| Intron 1 |
c.53+3158A>G |
|
non disease-causing |
| Intron 1 |
c.53+1G>T |
185+1G>T |
disease-causing |
| Intron 1 |
c.54-4235_164+377dup4723 |
|
disease-causing |
| Intron 1 |
c.53+4A>T |
185+4A>T |
unclassified |
| Intron 1 |
c.54-13C>G |
186-13C>G |
unclassified |
| Intron 1 |
c.54-589A>G |
|
unclassified |
| Intron 2 |
c.164+1G>C |
296+1G>C |
disease-causing |
| Intron 2 |
c.165-2A>C |
|
disease-causing |
| Intron 2 |
c.165-2A>G |
297-2A>G |
disease-causing |
| Intron 2 |
c.165-3C>T |
297-3C>T |
disease-causing |
| Intron 2 |
c.164+28A>G |
296+ 28A- >G |
unclassified |
| Intron 3 |
c.273+46T>G |
405+46G/T |
non disease-causing |
| Intron 3 |
c.273+1G>A |
405+1G>A |
disease-causing |
| Intron 3 |
c.274-1G>C |
406-1G>C |
disease-causing |
| Intron 3 |
c.274-1G>T |
406-1G>T |
disease-causing |
| Intron 3 |
c.274-2A>G |
406- 2A- >G |
disease-causing |
| Intron 3 |
c.274-3397_489+710del |
dele4 |
disease-causing |
| Intron 3 |
c.273+27A>G |
|
unclassified |
| Intron 3 |
c.273+4A>G |
405+ 4A- >G |
unclassified |
| Intron 3 |
c.274-6T>C |
406-6T>C |
unclassified |
| Intron 4 |
c.489+1G>T |
621+1G>T |
disease-causing |
| Intron 4 |
c.489+2T>C |
621+2T>C |
disease-causing |
| Intron 4 |
c.489+2T>G |
621+2T>G |
disease-causing |
| Intron 4 |
c.489+3A>G |
621+3A>G |
disease-causing |
| Intron 4 |
c.490-3T>G |
|
disease-causing |
| Intron 4 |
c.489+33T>C |
|
unclassified |
| Intron 4 |
c.489+76T>C |
|
unclassified |
| Intron 4 |
c.490-165T>C |
|
unclassified |
| Intron 4 |
c.490-23_490-4del |
|
unclassified |
| Intron 5 |
c.579+1G>T |
711+1G>T |
disease-causing |
| Intron 5 |
c.579+3A>G |
711+3A>G |
disease-causing |
| Intron 5 |
c.579+5G>A |
711+ 5G- >A |
disease-causing |
| Intron 5 |
c.580-1G>T |
712-1G>T |
disease-causing |
| Intron 5 |
c.580-62T>G |
|
unclassified |
| Intron 5 |
c.580-90C>T |
|
unclassified |
| Intron 5 |
c.580-92T>A |
712-92T/A |
unclassified |
| Intron 6 |
c.743+40A>G |
875+40A/G |
non disease-causing |
| Intron 6 |
c.744-33GATT[6] |
TTGA repeats |
non disease-causing |
| Intron 6 |
c.744-33GATT[7] |
TTGA repeats |
non disease-causing |
| Intron 6 |
c.744-33GATT[8] |
TTGA repeats |
non disease-causing |
| Intron 6 |
c.744-10_744-3del |
876-10del8 |
unclassified |
| Intron 6 |
c.744-14_744-3del |
876-14del12 |
unclassified |
| Intron 6 |
c.744-33GATT[4] |
|
unclassified |
| Intron 7 |
c.869+11C>T |
1001+11C/T |
non disease-causing |
| Intron 7 |
c.869+5G>A |
|
disease-causing |
| Intron 7 |
c.870-1113_870-1110del |
|
disease-causing |
| Intron 7 |
c.870-12T>A |
|
disease-causing |
| Intron 7 |
c.869+5G>T |
|
unclassified |
| Intron 7 |
c.869+88T>A |
|
unclassified |
| Intron 7 |
c.869+8G>T |
|
unclassified |
| Intron 7 |
c.870-1095A>G |
|
unclassified |
| Intron 7 |
c.870-1101T>C |
|
unclassified |
| Intron 7 |
c.870-1125A>G |
|
unclassified |
| Intron 8 |
c.1116+1G>A |
1248+1G>A |
disease-causing |
| Intron 8 |
c.1117-5A>G |
1249-5A>G |
disease-causing |
| Intron 8 |
c.1116+31A>C |
1248+31 A/C |
unclassified |
| Intron 8 |
c.1116+4_1116+10delinsTATACATAGTAT |
|
unclassified |
| Intron 9 |
c.1210-12T[7] |
poly-T tract variations |
non disease-causing |
| Intron 9 |
c.1210-12T[9] |
poly-T tract variations ; 1342-13G/T |
non disease-causing |
| Intron 9 |
c.1210-34TG[10] |
1342-12(GT)n |
non disease-causing |
| Intron 9 |
c.1210-34TG[11] |
1342-12(GT)n |
non disease-causing |
| Intron 9 |
c.1210-34TG[12] |
1342-12(GT)n |
non disease-causing |
| Intron 9 |
c.1210-34TG[13] |
1342-11TTT>G |
non disease-causing |
| Intron 9 |
c.1210-34TG[9] |
|
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[10]T[7] |
TG10T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[10]T[9] |
TG10T9 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[11]T[7] |
TG11T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[11]T[9] |
TG11T9 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[7] |
TG12T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[9] |
TG12T9 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[13]T[7] |
TG13T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[8]T[7] |
TG8T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[9]T[7] |
TG9T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[9]T[9] |
TG9T9 |
non disease-causing |
| Intron 9 |
c.1209+1G>A |
1341+1G>A |
disease-causing |
| Intron 9 |
c.1209+2T>G |
|
disease-causing |
| Intron 9 |
c.1210-12T[3] |
1342-11TTT>G |
disease-causing |
| Intron 9 |
c.1210-12T[5] |
poly-T tract variations |
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[3] |
TG12T3 |
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[5] |
TG12T5 |
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[13]T[5] |
TG13T5 |
disease-causing |
| Intron 9 |
c.1209+18A>C |
1341+18A>C |
unclassified |
| Intron 9 |
c.1209+28C>T |
|
unclassified |
| Intron 9 |
c.1210-12T[11] |
|
unclassified |
| Intron 9 |
c.1210-12T[6] |
|
unclassified |
| Intron 9 |
c.1210-12T[8] |
|
unclassified |
| Intron 9 |
c.1210-34_1210-6TG[10]T[8] |
TG10T8 |
unclassified |
| Intron 9 |
c.1210-34_1210-6TG[11]T[5] |
TG11T5 |
unclassified |
| Intron 9 |
c.1210-34_1210-6TG[12]T[6] |
TG12T6 |
unclassified |
| Intron 9 |
c.1210-34_1210-6TG[13]T[6] |
TG13T6 |
unclassified |
| Intron 9 |
c.1210-34_1210-6TG[15]T[7] |
TG15T7 |
unclassified |
| Intron 9 |
c.1210-34_1210-6TG[9]T[11] |
TG9T11 |
unclassified |
| Intron 9 |
c.1210-6T>A |
|
unclassified |
| Intron 10 |
c.1392+52T[10] |
|
non disease-causing |
| Intron 10 |
c.1393-61A>G |
1525-61A/G |
non disease-causing |
| Intron 10 |
c.1392+1del |
|
disease-causing |
| Intron 10 |
c.1393-1G>A |
1525-1G->A |
disease-causing |
| Intron 10 |
c.1393-2A>G |
1525-2A>G |
disease-causing |
| Intron 10 |
c.1393-3C>A |
|
unclassified |
| Intron 11 |
c.1585-9218G>A |
|
non disease-causing |
| Intron 11 |
c.1584+1G>A |
1716+1G->A |
disease-causing |
| Intron 11 |
c.1584+2T>C |
1716+2T>C |
disease-causing |
| Intron 11 |
c.1585-1G>A |
1717-1G>A |
disease-causing |
| Intron 11 |
c.1585-8G>A |
1717-8G>A |
disease-causing |
| Intron 11 |
c.1585-9412A>G |
|
disease-causing |
| Intron 11 |
c.1584+12T>C |
1716+12T/C |
unclassified |
| Intron 11 |
c.1584+53_1584+63dup |
|
unclassified |
| Intron 11 |
c.1584+64T>C |
|
unclassified |
| Intron 11 |
c.1584+77A>G |
1716+ 77A/G |
unclassified |
| Intron 11 |
c.1585-3T>C |
|
unclassified |
| Intron 11 |
c.1585-84A>C |
|
unclassified |
| Intron 11 |
c.1585-9212G>A |
|
unclassified |
| Intron 11 |
c.1585-9395C>G |
|
unclassified |
| Intron 11 |
c.1585-9418T>C |
|
unclassified |
| Intron 11 |
c.1585-9449C>A |
|
unclassified |
| Intron 12 |
c.1680-717A>G |
|
non disease-causing |
| Intron 12 |
c.1680-870T>A |
1811+1650T>A |
non disease-causing |
| Intron 12 |
c.1679+1G>C |
1811+1G>C |
disease-causing |
| Intron 12 |
c.1680-1G>A |
1812-1G>A |
disease-causing |
| Intron 12 |
c.1680-883A>G |
|
disease-causing |
| Intron 12 |
c.1680-886A>G |
1811+1.6kbA>G |
disease-causing |
| Intron 12 |
c.1679+18G>A |
1811+18G->A |
unclassified |
| Intron 12 |
c.1679+694_2490+281dup |
|
unclassified |
| Intron 12 |
c.1679+9C>G |
|
unclassified |
| Intron 12 |
c.1680-871A>G |
|
unclassified |
| Intron 12 |
c.1680-871_1680-870delATinsGA |
|
unclassified |
| Intron 12 |
c.1680-981T>C |
|
unclassified |
| Intron 12 |
c.1680-99T>C |
1812- 99 T- >C |
unclassified |
| Intron 13 |
c.1766+152T>A |
1898+152T/A |
non disease-causing |
| Intron 13 |
c.1766+1G>A |
1898+1G>A |
disease-causing |
| Intron 13 |
c.1766+1G>C |
1898+1G>C |
disease-causing |
| Intron 13 |
c.1766+3A>C |
1898+3A>C |
disease-causing |
| Intron 13 |
c.1766+3A>G |
1898+3A>G |
disease-causing |
| Intron 13 |
c.1766+5G>A |
1898+5G>A |
disease-causing |
| Intron 13 |
c.1766+5G>T |
1898+5G>T |
disease-causing |
| Intron 13 |
c.1766+73T>G |
1898+73T>G |
unclassified |
| Intron 13 |
c.1767-12T>G |
|
unclassified |
| Intron 13 |
c.1767-58G>C |
|
unclassified |
| Intron 14 |
c.2490+1G>A |
2622+1G>A |
disease-causing |
| Intron 14 |
c.2490+2T>C |
2622+2T>C |
unclassified |
| Intron 14 |
c.2490+4_2490+7del |
|
unclassified |
| Intron 14 |
c.2490+5G>T |
|
unclassified |
| Intron 14 |
c.2491-51T>C |
2623-51T>C |
unclassified |
| Intron 15 |
c.2619+86_2619+87del |
|
non disease-causing |
| Intron 15 |
c.2620-26A>G |
2752-26A>G |
non disease-causing |
| Intron 15 |
c.2620-6T>C |
2752-6T->C |
non disease-causing |
| Intron 15 |
c.(2619+1_2620-1)_(3367+1_3368-1)del |
|
disease-causing |
| Intron 15 |
c.2619+106T>A |
|
unclassified |
| Intron 15 |
c.2619+20_2619+24del |
IVS14a+17del5 |
unclassified |
| Intron 15 |
c.2619+3A>G |
2751+3A>G |
unclassified |
| Intron 15 |
c.2619+62T>C |
|
unclassified |
| Intron 15 |
c.2620-15C>G |
2752-15C/G |
unclassified |
| Intron 15 |
c.2620-17G>T |
|
unclassified |
| Intron 15 |
c.2620-22A>G |
2752-22A/G |
unclassified |
| Intron 16 |
c.2657+2_2657+3insA |
2789+2insA |
disease-causing |
| Intron 16 |
c.2657+5G>A |
2789+5G>A |
disease-causing |
| Intron 16 |
c.2658-1G>C |
2790-1G>C |
disease-causing |
| Intron 16 |
c.2658-1G>T |
2790-1G>T |
disease-causing |
| Intron 16 |
c.2657+66C>T |
|
unclassified |
| Intron 16 |
c.2658-13A>G |
|
unclassified |
| Intron 16 |
c.2658-21G>A |
2790-21G/A |
unclassified |
| Intron 16 |
c.2658-2A>G |
2790-2A>G |
unclassified |
| Intron 16 |
c.2658-77T>A |
|
unclassified |
| Intron 17 |
c.2909-71G>C |
3041-71G/C |
non disease-causing |
| Intron 17 |
c.2909-92G>A |
3041-92G/A |
non disease-causing |
| Intron 17 |
c.2908+1G>A |
|
disease-causing |
| Intron 17 |
c.2909-15T>G |
3041-15T>G |
disease-causing |
| Intron 17 |
c.2908+19G>A |
|
unclassified |
| Intron 17 |
c.2908+4C>A |
|
unclassified |
| Intron 17 |
c.2909-15T>C |
|
unclassified |
| Intron 17 |
c.2909-36T>G |
|
unclassified |
| Intron 18 |
c.2989-93A[12] |
3121-92A12/13 |
non disease-causing |
| Intron 18 |
c.2988+1616_3367+356delins62 |
Del exon 17a-17b |
disease-causing |
| Intron 18 |
c.2988+1G>A |
3120+1G>A |
disease-causing |
| Intron 18 |
c.2989-1G>A |
3121-1G>A |
disease-causing |
| Intron 18 |
c.2989-2A>G |
3121-2A>G |
disease-causing |
| Intron 18 |
c.2989-313A>T |
|
disease-causing |
| Intron 18 |
c.2989-357C>T |
|
unclassified |
| Intron 18 |
c.2989-35G>A |
|
unclassified |
| Intron 18 |
c.2989-3C>G |
3121-3C>G |
unclassified |
| Intron 18 |
c.2989-422G>T |
|
unclassified |
| Intron 18 |
c.2989-69C>G |
|
unclassified |
| Intron 19 |
c.3139+18C>T |
3271+18C/T |
non disease-causing |
| Intron 19 |
c.3139+42A>T |
3271+42A/T |
non disease-causing |
| Intron 19 |
c.3140-92T>C |
3272-93T/C |
non disease-causing |
| Intron 19 |
c.3139+1G>A |
3271+1G>A |
disease-causing |
| Intron 19 |
c.3140-26A>G |
3272-26A>G |
disease-causing |
| Intron 19 |
c.3139+101C>G |
3271+101C/G |
unclassified |
| Intron 19 |
c.3139+16T>A |
|
unclassified |
| Intron 19 |
c.3139+187dup |
|
unclassified |
| Intron 19 |
c.3139+89T>C |
|
unclassified |
| Intron 19 |
c.3140-16T>A |
|
unclassified |
| Intron 19 |
c.3140-25T>A |
|
unclassified |
| Intron 19 |
c.3140-33A>G |
3272-33A/G |
unclassified |
| Intron 20 |
c.3367+37G>A |
3499+37G/A |
non disease-causing |
| Intron 20 |
c.3368-140A>C |
3500-140A/C |
non disease-causing |
| Intron 20 |
c.3367+45T>C |
3499+45T/C |
unclassified |
| Intron 20 |
c.3368-2dup |
|
unclassified |
| Intron 21 |
c.3469-65C>A |
3601-65C/A |
non disease-causing |
| Intron 21 |
c.(3468+1_3469-1)_(3717+1_3718-1)del |
|
disease-causing |
| Intron 21 |
c.3468+2T>C |
3600+2T>C |
disease-causing |
| Intron 21 |
c.3469-1304C>G |
|
disease-causing |
| Intron 21 |
c.3468+51C>A |
|
unclassified |
| Intron 21 |
c.3468+5G>A |
3600+5G>A |
unclassified |
| Intron 21 |
c.3468+70T>C |
|
unclassified |
| Intron 21 |
c.3469-1374A>C |
|
unclassified |
| Intron 21 |
c.3469-1473A>G |
|
unclassified |
| Intron 21 |
c.3469-17T>C |
3601-17T>C |
unclassified |
| Intron 21 |
c.3469-20T>C |
3601-20T>C |
unclassified |
| Intron 22 |
c.3717+1G>A |
3849+ 1G- >A |
disease-causing |
| Intron 22 |
c.3717+40A>G |
3849+40A>G |
disease-causing |
| Intron 22 |
c.3717+4A>G |
3849+4A>G |
disease-causing |
| Intron 22 |
c.3718-1G>A |
3850-1G>A |
disease-causing |
| Intron 22 |
c.3718-2477C>T |
3849+10kbC>T |
disease-causing |
| Intron 22 |
c.3717+45G>A |
3849+45G>A |
unclassified |
| Intron 22 |
c.3717+53del |
|
unclassified |
| Intron 22 |
c.3717+68A>G |
|
unclassified |
| Intron 22 |
c.3718-2487A>T |
|
unclassified |
| Intron 22 |
c.3718-24G>A |
|
unclassified |
| Intron 22 |
c.3718-48A>G |
|
unclassified |
| Intron 22 |
c.3718-79T>C |
3850-79T/C |
unclassified |
| Intron 23 |
c.3874-105T>G |
|
non disease-causing |
| Intron 23 |
c.3874-200G>A |
4006-200G/A |
non disease-causing |
| Intron 23 |
c.3873+1G>A |
4005+1G>A |
disease-causing |
| Intron 23 |
c.3874-1G>A |
|
disease-causing |
| Intron 23 |
c.3874-1_3874delinsAG |
|
disease-causing |
| Intron 23 |
c.3874-4522A>G |
|
disease-causing |
| Intron 23 |
c.3873+112A>C |
|
unclassified |
| Intron 23 |
c.3874-14C>G |
4006- 14C- >G |
unclassified |
| Intron 23 |
c.3874-172C>G |
|
unclassified |
| Intron 23 |
c.3874-19_3874-17del |
4006-19del3 |
unclassified |
| Intron 23 |
c.3874-4A>G |
4006-4A>G |
unclassified |
| Intron 23 |
c.3874-71A>G |
|
unclassified |
| Intron 24 |
c.3963+69A>G |
|
non disease-causing |
| Intron 24 |
c.3964-283T>C |
4096-283T/C |
non disease-causing |
| Intron 24 |
c.3963+2T>A |
4095+ 2T- >A |
disease-causing |
| Intron 24 |
c.3964-3C>G |
4096-3C>G |
disease-causing |
| Intron 24 |
c.3963+47A>T |
|
unclassified |
| Intron 24 |
c.3964-93T>G |
|
unclassified |
| Intron 25 |
c.4137-139G>A |
4269-139G/A |
non disease-causing |
| Intron 25 |
c.4136+5G>A |
|
disease-causing |
| Intron 25 |
c.4137-116G>T |
|
unclassified |
| Intron 25 |
c.4137-136A>G |
|
unclassified |
| Intron 25 |
c.4137-89A>G |
|
unclassified |
| Intron 25 |
c.4137-94T>A |
|
unclassified |
| Intron 26 |
c.4242+13A>G |
4374+13A/G |
non disease-causing |
| Intron 26 |
c.4242+1G>A |
4374+1G>A |
disease-causing |
| Intron 26 |
c.4243-7del |
|
disease-causing |
| Intron 26 |
c.4242+65G>A |
|
unclassified |
| Intron 26 |
c.4242+71G>T |
|
unclassified |
| Intron 26 |
c.4243-16A>G |
|
unclassified |
| Intron 26 |
c.4243-20A>G |
|
unclassified |
| Intron 26 |
c.4243-2A>C |
|
unclassified |
| Intron 26 |
c.4243-32del |
|
unclassified |
| Intron 26 |
c.4243-33del |
|
unclassified |
| Intron 26 |
c.4243-35del |
4375-36delT |
unclassified |
