Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52038103_52038148del | CA2761648129 | SGCB | c.33+84_33+129del (n.33+84_33+129del) c.19+84_19+129del | |
4 | g.52038118_52038177del | CA2670614400 | SGCB | c.33+53_33+112del (n.33+53_33+112del) c.19+53_19+112del | gnomAD v4 |
4 | g.52038139_52038147del | CA2670614449 | SGCB | c.33+82_33+90del (n.33+82_33+90del) c.19+82_19+90del | gnomAD v4 |
4 | g.52038145G>A | CA796086038 | SGCB | c.33+82C>T (n.33+82C>T) c.19+82C>T | dbSNP gnomAD v4 |
4 | g.52038145G>C | CA2705809920 | SGCB | c.33+82C>G (n.33+82C>G) c.19+82C>G | dbSNP |
4 | g.52038145G= | CA1457434110 | SGCB | c.33+82C= (n.33+82C=) c.19+82C= | |
4 | g.52038145G>T | CA2670614462 | SGCB | c.33+82C>A (n.33+82C>A) c.19+82C>A | gnomAD v4 |
4 | g.52038146dup | CA2578086720 | SGCB | c.33+82dup (n.33+82dup) c.19+82dup | |
4 | g.52038146G>A | CA2670614463 | SGCB | c.33+81C>T (n.33+81C>T) c.19+81C>T | gnomAD v4 |
4 | g.52038146G>T | CA2670614464 | SGCB | c.33+81C>A (n.33+81C>A) c.19+81C>A | gnomAD v4 |
4 | g.52038147C>A | CA2670614465 | SGCB | c.33+80G>T (n.33+80G>T) c.19+80G>T | gnomAD v4 |
4 | g.52038147C= | CA1457434111 | SGCB | c.33+80G= (n.33+80G=) c.19+80G= | |
4 | g.52038147C>T | CA96791490 | SGCB | c.33+80G>A (n.33+80G>A) c.19+80G>A | dbSNP gnomAD v4 |
4 | g.52038148C>A | CA2670614466 | SGCB | c.33+79G>T (n.33+79G>T) c.19+79G>T | gnomAD v4 |
4 | g.52038148C>T | CA2670614467 | SGCB | c.33+79G>A (n.33+79G>A) c.19+79G>A | gnomAD v4 |
4 | g.52038149A= | CA1457434112 | SGCB | c.33+78T= (n.33+78T=) c.19+78T= | |
4 | g.52038149A>G | CA551343884 | SGCB | c.33+78T>C (n.33+78T>C) c.19+78T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038149A>T | CA2670614468 | SGCB | c.33+78T>A (n.33+78T>A) c.19+78T>A | gnomAD v4 |
4 | g.52038150G>A | CA1457434114 | SGCB | c.33+77C>T (n.33+77C>T) c.19+77C>T | dbSNP gnomAD v4 |
4 | g.52038150G= | CA1457434113 | SGCB | c.33+77C= (n.33+77C=) c.19+77C= | |
4 | g.52038150G>T | CA2670614469 | SGCB | c.33+77C>A (n.33+77C>A) c.19+77C>A | gnomAD v4 |
4 | g.52038151G>A | CA2597764750 | SGCB | c.33+76C>T (n.33+76C>T) c.19+76C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038151G>C | CA1457434115 | SGCB | c.33+76C>G (n.33+76C>G) c.19+76C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038151G= | CA1457434116 | SGCB | c.33+76C= (n.33+76C=) c.19+76C= | |
4 | g.52038151G>T | CA2670614470 | SGCB | c.33+76C>A (n.33+76C>A) c.19+76C>A | gnomAD v4 |
4 | g.52038152G>A | CA1062454370 | SGCB | c.33+75C>T (n.33+75C>T) c.19+75C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038152G= | CA1457434117 | SGCB | c.33+75C= (n.33+75C=) c.19+75C= | |
4 | g.52038152G>T | CA1457434118 | SGCB | c.33+75C>A (n.33+75C>A) c.19+75C>A | dbSNP gnomAD v4 |
4 | g.52038153C>A | CA2670614471 | SGCB | c.33+74G>T (n.33+74G>T) c.19+74G>T | gnomAD v4 |
4 | g.52038153C>G | CA2670614472 | SGCB | c.33+74G>C (n.33+74G>C) c.19+74G>C | gnomAD v4 |
4 | g.52038153C>T | CA2670614473 | SGCB | c.33+74G>A (n.33+74G>A) c.19+74G>A | gnomAD v4 |
4 | g.52038154T>C | CA2670614474 | SGCB | c.33+73A>G (n.33+73A>G) c.19+73A>G | gnomAD v4 |
4 | g.52038155C>A | CA2670614476 | SGCB | c.33+72G>T (n.33+72G>T) c.19+72G>T | gnomAD v4 |
4 | g.52038155C>G | CA2670614477 | SGCB | c.33+72G>C (n.33+72G>C) c.19+72G>C | gnomAD v4 |
4 | g.52038155C>T | CA2670614478 | SGCB | c.33+72G>A (n.33+72G>A) c.19+72G>A | gnomAD v4 |
4 | g.52038157del | CA2670614475 | SGCB | c.33+72del (n.33+72del) c.19+72del | gnomAD v4 |
4 | g.52038156C>A | CA2670614479 | SGCB | c.33+71G>T (n.33+71G>T) c.19+71G>T | gnomAD v4 |
4 | g.52038156C= | CA1457434119 | SGCB | c.33+71G= (n.33+71G=) c.19+71G= | |
4 | g.52038156C>T | CA1457434120 | SGCB | c.33+71G>A (n.33+71G>A) c.19+71G>A | dbSNP gnomAD v4 |
4 | g.52038157C>A | CA796086046 | SGCB | c.33+70G>T (n.33+70G>T) c.19+70G>T | dbSNP gnomAD v4 |
4 | g.52038157C= | CA1457434121 | SGCB | c.33+70G= (n.33+70G=) c.19+70G= | |
4 | g.52038157C>G | CA796086048 | SGCB | c.33+70G>C (n.33+70G>C) c.19+70G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038157C>T | CA2670614480 | SGCB | c.33+70G>A (n.33+70G>A) c.19+70G>A | gnomAD v4 |
4 | g.52038158G>A | CA2670614481 | SGCB | c.33+69C>T (n.33+69C>T) c.19+69C>T | gnomAD v4 |
4 | g.52038158G>T | CA2670614482 | SGCB | c.33+69C>A (n.33+69C>A) c.19+69C>A | gnomAD v4 |
4 | g.52038159C>A | CA2670614483 | SGCB | c.33+68G>T (n.33+68G>T) c.19+68G>T | gnomAD v4 |
4 | g.52038159C= | CA1457434122 | SGCB | c.33+68G= (n.33+68G=) c.19+68G= | |
4 | g.52038159C>G | CA2670614484 | SGCB | c.33+68G>C (n.33+68G>C) c.19+68G>C | gnomAD v4 |
4 | g.52038159C>T | CA96791503 | SGCB | c.33+68G>A (n.33+68G>A) c.19+68G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038160G>A | CA2670614485 | SGCB | c.33+67C>T (n.33+67C>T) c.19+67C>T | gnomAD v4 |
4 | g.52038160G>T | CA2670614486 | SGCB | c.33+67C>A (n.33+67C>A) c.19+67C>A | gnomAD v4 |
4 | g.52038161G>A | CA796086050 | SGCB | c.33+66C>T (n.33+66C>T) c.19+66C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038161G= | CA1457434123 | SGCB | c.33+66C= (n.33+66C=) c.19+66C= | |
4 | g.52038161G>T | CA2670614487 | SGCB | c.33+66C>A (n.33+66C>A) c.19+66C>A | gnomAD v4 |
4 | g.52038162G>A | CA1457434125 | SGCB | c.33+65C>T (n.33+65C>T) c.19+65C>T | dbSNP gnomAD v4 |
4 | g.52038162G>C | CA2670614488 | SGCB | c.33+65C>G (n.33+65C>G) c.19+65C>G | gnomAD v4 |
4 | g.52038162G= | CA1457434124 | SGCB | c.33+65C= (n.33+65C=) c.19+65C= | |
4 | g.52038162G>T | CA796086054 | SGCB | c.33+65C>A (n.33+65C>A) c.19+65C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038163C>A | CA2670614489 | SGCB | c.33+64G>T (n.33+64G>T) c.19+64G>T | gnomAD v4 |
4 | g.52038163C>T | CA2670614490 | SGCB | c.33+64G>A (n.33+64G>A) c.19+64G>A | gnomAD v4 |
4 | g.52038164C>A | CA2670614491 | SGCB | c.33+63G>T (n.33+63G>T) c.19+63G>T | gnomAD v4 |
4 | g.52038165C>A | CA2670614492 | SGCB | c.33+62G>T (n.33+62G>T) c.19+62G>T | gnomAD v4 |
4 | g.52038165C= | CA1457434126 | SGCB | c.33+62G= (n.33+62G=) c.19+62G= | |
4 | g.52038165C>G | CA1457434127 | SGCB | c.33+62G>C (n.33+62G>C) c.19+62G>C | dbSNP gnomAD v4 |
4 | g.52038165C>T | CA2670614493 | SGCB | c.33+62G>A (n.33+62G>A) c.19+62G>A | gnomAD v4 |
4 | g.52038166A>C | CA2761648132 | SGCB | c.33+61T>G (n.33+61T>G) c.19+61T>G | |
4 | g.52038166A>G | CA2670614494 | SGCB | c.33+61T>C (n.33+61T>C) c.19+61T>C | gnomAD v4 |
4 | g.52038166A>T | CA2670614495 | SGCB | c.33+61T>A (n.33+61T>A) c.19+61T>A | gnomAD v4 |
4 | g.52038167G>A | CA2670614496 | SGCB | c.33+60C>T (n.33+60C>T) c.19+60C>T | gnomAD v4 |
4 | g.52038167G>C | CA2761648133 | SGCB | c.33+60C>G (n.33+60C>G) c.19+60C>G | |
4 | g.52038167G>T | CA2670614497 | SGCB | c.33+60C>A (n.33+60C>A) c.19+60C>A | gnomAD v4 |
4 | g.52038168C>A | CA2670614498 | SGCB | c.33+59G>T (n.33+59G>T) c.19+59G>T | gnomAD v4 |
4 | g.52038168C= | CA1457434128 | SGCB | c.33+59G= (n.33+59G=) c.19+59G= | |
4 | g.52038168C>G | CA551343885 | SGCB | c.33+59G>C (n.33+59G>C) c.19+59G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038168C>T | CA2578086721 | SGCB | c.33+59G>A (n.33+59G>A) c.19+59G>A | gnomAD v4 |
4 | g.52038169C>A | CA2670614499 | SGCB | c.33+58G>T (n.33+58G>T) c.19+58G>T | gnomAD v4 |
4 | g.52038169C= | CA1457434129 | SGCB | c.33+58G= (n.33+58G=) c.19+58G= | |
4 | g.52038169C>G | CA1457434130 | SGCB | c.33+58G>C (n.33+58G>C) c.19+58G>C | dbSNP gnomAD v4 |
4 | g.52038169C>T | CA2670614500 | SGCB | c.33+58G>A (n.33+58G>A) c.19+58G>A | dbSNP gnomAD v4 |
4 | g.52038170G>A | CA96791512 | SGCB | c.33+57C>T (n.33+57C>T) c.19+57C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038170G>C | CA2670614502 | SGCB | c.33+57C>G (n.33+57C>G) c.19+57C>G | gnomAD v4 |
4 | g.52038170G= | CA1457434131 | SGCB | c.33+57C= (n.33+57C=) c.19+57C= | |
4 | g.52038170G>T | CA2670614501 | SGCB | c.33+57C>A (n.33+57C>A) c.19+57C>A | gnomAD v4 |
4 | g.52038171G>A | CA551343886 | SGCB | c.33+56C>T (n.33+56C>T) c.19+56C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038171G>C | CA2670614503 | SGCB | c.33+56C>G (n.33+56C>G) c.19+56C>G | gnomAD v4 |
4 | g.52038171G= | CA1457434132 | SGCB | c.33+56C= (n.33+56C=) c.19+56C= | |
4 | g.52038171G>T | CA2670614504 | SGCB | c.33+56C>A (n.33+56C>A) c.19+56C>A | gnomAD v4 |
4 | g.52038172C>A | CA2670614505 | SGCB | c.33+55G>T (n.33+55G>T) c.19+55G>T | gnomAD v4 |
4 | g.52038172C>G | CA2670614506 | SGCB | c.33+55G>C (n.33+55G>C) c.19+55G>C | gnomAD v4 |
4 | g.52038172C>T | CA2670614507 | SGCB | c.33+55G>A (n.33+55G>A) c.19+55G>A | gnomAD v4 |
4 | g.52038173A= | CA1457434133 | SGCB | c.33+54T= (n.33+54T=) c.19+54T= | |
4 | g.52038173A>G | CA796086066 | SGCB | c.33+54T>C (n.33+54T>C) c.19+54T>C | dbSNP gnomAD v4 |
4 | g.52038174G>A | CA1457434135 | SGCB | c.33+53C>T (n.33+53C>T) c.19+53C>T | dbSNP gnomAD v4 |
4 | g.52038174G>C | CA2670614508 | SGCB | c.33+53C>G (n.33+53C>G) c.19+53C>G | gnomAD v4 |
4 | g.52038174G= | CA1457434134 | SGCB | c.33+53C= (n.33+53C=) c.19+53C= | |
4 | g.52038174G>T | CA2670614509 | SGCB | c.33+53C>A (n.33+53C>A) c.19+53C>A | gnomAD v4 |
4 | g.52038175G>A | CA2670614510 | SGCB | c.33+52C>T (n.33+52C>T) c.19+52C>T | gnomAD v4 |
4 | g.52038175G>T | CA2670614511 | SGCB | c.33+52C>A (n.33+52C>A) c.19+52C>A | gnomAD v4 |
4 | g.52038176A>G | CA2670614512 | SGCB | c.33+51T>C (n.33+51T>C) c.19+51T>C | dbSNP gnomAD v4 |
4 | g.52038177C>A | CA2670614514 | SGCB | c.33+50G>T (n.33+50G>T) c.19+50G>T | gnomAD v4 |
4 | g.52038177C= | CA1457434136 | SGCB | c.33+50G= (n.33+50G=) c.19+50G= | |
4 | g.52038177C>G | CA551343887 | SGCB | c.33+50G>C (n.33+50G>C) c.19+50G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038177C>T | CA2578086722 | SGCB | c.33+50G>A (n.33+50G>A) c.19+50G>A | gnomAD v4 |
4 | g.52038183_52038213del | CA2670614513 | SGCB | c.33+20_33+50del (n.33+20_33+50del) c.19+20_19+50del | gnomAD v4 |
4 | g.52038178G>A | CA2670614515 | SGCB | c.33+49C>T (n.33+49C>T) c.19+49C>T | gnomAD v4 |
4 | g.52038178G>C | CA2670614516 | SGCB | c.33+49C>G (n.33+49C>G) c.19+49C>G | gnomAD v4 |
4 | g.52038178G>T | CA2670614517 | SGCB | c.33+49C>A (n.33+49C>A) c.19+49C>A | gnomAD v4 |
4 | g.52038179C>A | CA2670614518 | SGCB | c.33+48G>T (n.33+48G>T) c.19+48G>T | gnomAD v4 |
4 | g.52038179C>G | CA2670614519 | SGCB | c.33+48G>C (n.33+48G>C) c.19+48G>C | gnomAD v4 |
4 | g.52038179C>T | CA2670614520 | SGCB | c.33+48G>A (n.33+48G>A) c.19+48G>A | gnomAD v4 |
4 | g.52038180G>A | CA2560473188 | SGCB | c.33+47C>T (n.33+47C>T) c.19+47C>T | gnomAD v4 |
4 | g.52038180G>T | CA2578086723 | SGCB | c.33+47C>A (n.33+47C>A) c.19+47C>A | gnomAD v4 |
4 | g.52038181G>A | CA1457434138 | SGCB | c.33+46C>T (n.33+46C>T) c.19+46C>T | dbSNP gnomAD v4 |
4 | g.52038181G= | CA1457434137 | SGCB | c.33+46C= (n.33+46C=) c.19+46C= | |
4 | g.52038181G>T | CA2670614521 | SGCB | c.33+46C>A (n.33+46C>A) c.19+46C>A | gnomAD v4 |
4 | g.52038182C>A | CA1457434140 | SGCB | c.33+45G>T (n.33+45G>T) c.19+45G>T | dbSNP gnomAD v4 |
4 | g.52038182C= | CA1457434139 | SGCB | c.33+45G= (n.33+45G=) c.19+45G= | |
4 | g.52038182C>T | CA2670614523 | SGCB | c.33+45G>A (n.33+45G>A) c.19+45G>A | gnomAD v4 |
4 | g.52038184_52038186del | CA2670614522 | SGCB | c.33+43_33+45del (n.33+43_33+45del) c.19+43_19+45del | gnomAD v4 |
4 | g.52038183C>A | CA2670614524 | SGCB | c.33+44G>T (n.33+44G>T) c.19+44G>T | gnomAD v4 |
4 | g.52038183C>T | CA2670614525 | SGCB | c.33+44G>A (n.33+44G>A) c.19+44G>A | gnomAD v4 |
4 | g.52038184T>A | CA2670614526 | SGCB | c.33+43A>T (n.33+43A>T) c.19+43A>T | gnomAD v4 |
4 | g.52038184T>C | CA1457434143 | SGCB | c.33+43A>G (n.33+43A>G) c.19+43A>G | dbSNP gnomAD v4 |
4 | g.52038184T= | CA1457434142 | SGCB | c.33+43A= (n.33+43A=) c.19+43A= | |
4 | g.52038184_52038185delinsTC | CA1457434141 | SGCB | c.33+42_33+43delinsGA (n.33+42_33+43delinsGA) c.19+42_19+43delinsGA | |
4 | g.52038185C>A | CA2670614527 | SGCB | c.33+42G>T (n.33+42G>T) c.19+42G>T | gnomAD v4 |
4 | g.52038185C= | CA1457434144 | SGCB | c.33+42G= (n.33+42G=) c.19+42G= | |
4 | g.52038185C>T | CA796086071 | SGCB | c.33+42G>A (n.33+42G>A) c.19+42G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038189dup | CA2670614529 | SGCB | c.33+42dup (n.33+42dup) c.19+42dup | gnomAD v4 |
4 | g.52038189del | CA551343888 | SGCB | c.33+42del (n.33+42del) c.19+42del | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038186_52038210del | CA2670614528 | SGCB | c.33+18_33+42del (n.33+18_33+42del) c.19+18_19+42del | gnomAD v4 |
4 | g.52038186C>A | CA2670614530 | SGCB | c.33+41G>T (n.33+41G>T) c.19+41G>T | gnomAD v4 |
4 | g.52038186C>G | CA2670614531 | SGCB | c.33+41G>C (n.33+41G>C) c.19+41G>C | gnomAD v4 |
4 | g.52038186C>T | CA2670614532 | SGCB | c.33+41G>A (n.33+41G>A) c.19+41G>A | gnomAD v4 |
4 | g.52038187C>A | CA2670614533 | SGCB | c.33+40G>T (n.33+40G>T) c.19+40G>T | gnomAD v4 |
4 | g.52038187C>G | CA2670614534 | SGCB | c.33+40G>C (n.33+40G>C) c.19+40G>C | gnomAD v4 |
4 | g.52038187C>T | CA2670614535 | SGCB | c.33+40G>A (n.33+40G>A) c.19+40G>A | gnomAD v4 |
4 | g.52038188C>A | CA2670614536 | SGCB | c.33+39G>T (n.33+39G>T) c.19+39G>T | gnomAD v4 |
4 | g.52038188C>G | CA2670614538 | SGCB | c.33+39G>C (n.33+39G>C) c.19+39G>C | gnomAD v4 |
4 | g.52038188C>T | CA2670614537 | SGCB | c.33+39G>A (n.33+39G>A) c.19+39G>A | gnomAD v4 |
4 | g.52038189C>A | CA551343889 | SGCB | c.33+38G>T (n.33+38G>T) c.19+38G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038189C= | CA1457434145 | SGCB | c.33+38G= (n.33+38G=) c.19+38G= | |
4 | g.52038189C>G | CA551343890 | SGCB | c.33+38G>C (n.33+38G>C) c.19+38G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038189C>T | CA96791525 | SGCB | c.33+38G>A (n.33+38G>A) c.19+38G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038190del | CA2670614539 | SGCB | c.33+37del (n.33+37del) c.19+37del | gnomAD v4 |
4 | g.52038190G>A | CA2670614540 | SGCB | c.33+37C>T (n.33+37C>T) c.19+37C>T | gnomAD v4 |
4 | g.52038190G>C | CA2670614541 | SGCB | c.33+37C>G (n.33+37C>G) c.19+37C>G | gnomAD v4 |
4 | g.52038190G>T | CA2670614542 | SGCB | c.33+37C>A (n.33+37C>A) c.19+37C>A | gnomAD v4 |
4 | g.52038191C>A | CA2670614543 | SGCB | c.33+36G>T (n.33+36G>T) c.19+36G>T | gnomAD v4 |
4 | g.52038191C= | CA1457434146 | SGCB | c.33+36G= (n.33+36G=) c.19+36G= | |
4 | g.52038191C>G | CA2670614544 | SGCB | c.33+36G>C (n.33+36G>C) c.19+36G>C | gnomAD v4 |
4 | g.52038191C>T | CA796086081 | SGCB | c.33+36G>A (n.33+36G>A) c.19+36G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038192T>A | CA2670614545 | SGCB | c.33+35A>T (n.33+35A>T) c.19+35A>T | gnomAD v4 |
4 | g.52038192T>C | CA2670614546 | SGCB | c.33+35A>G (n.33+35A>G) c.19+35A>G | gnomAD v4 |
4 | g.52038193C>A | CA2670614547 | SGCB | c.33+34G>T (n.33+34G>T) c.19+34G>T | gnomAD v4 |
4 | g.52038193C= | CA1457434147 | SGCB | c.33+34G= (n.33+34G=) c.19+34G= | |
4 | g.52038193C>G | CA1062454409 | SGCB | c.33+34G>C (n.33+34G>C) c.19+34G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038193C>T | CA2578086724 | SGCB | c.33+34G>A (n.33+34G>A) c.19+34G>A | gnomAD v4 |
4 | g.52038194C>A | CA2670614548 | SGCB | c.33+33G>T (n.33+33G>T) c.19+33G>T | gnomAD v4 |
4 | g.52038194C= | CA1457434148 | SGCB | c.33+33G= (n.33+33G=) c.19+33G= | |
4 | g.52038194C>T | CA1062454414 | SGCB | c.33+33G>A (n.33+33G>A) c.19+33G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038195T>A | CA2670614549 | SGCB | c.33+32A>T (n.33+32A>T) c.19+32A>T | gnomAD v4 |
4 | g.52038195T>C | CA2670614550 | SGCB | c.33+32A>G (n.33+32A>G) c.19+32A>G | gnomAD v4 |
4 | g.52038196C>A | CA2670614552 | SGCB | c.33+31G>T (n.33+31G>T) c.19+31G>T | gnomAD v4 |
4 | g.52038196C>T | CA2670614553 | SGCB | c.33+31G>A (n.33+31G>A) c.19+31G>A | gnomAD v4 |
4 | g.52038197del | CA2670614551 | SGCB | c.33+31del (n.33+31del) c.19+31del | gnomAD v4 |
4 | g.52038197C>A | CA2670614556 | SGCB | c.33+30G>T (n.33+30G>T) c.19+30G>T | gnomAD v4 |
4 | g.52038197C>G | CA2670614554 | SGCB | c.33+30G>C (n.33+30G>C) c.19+30G>C | gnomAD v4 |
4 | g.52038197C>T | CA2670614555 | SGCB | c.33+30G>A (n.33+30G>A) c.19+30G>A | gnomAD v4 |
4 | g.52038198A>G | CA2670614557 | SGCB | c.33+29T>C (n.33+29T>C) c.19+29T>C | gnomAD v4 |
4 | g.52038198A>T | CA2670614558 | SGCB | c.33+29T>A (n.33+29T>A) c.19+29T>A | gnomAD v4 |
4 | g.52038199G>A | CA2670614560 | SGCB | c.33+28C>T (n.33+28C>T) c.19+28C>T | gnomAD v4 |
4 | g.52038199G>T | CA2670614561 | SGCB | c.33+28C>A (n.33+28C>A) c.19+28C>A | gnomAD v4 |
4 | g.52038205_52038273del | CA2670614559 | SGCB | c.-8_33+28del | gnomAD v4 |
4 | g.52038200C>A | CA2670614563 | SGCB | c.33+27G>T (n.33+27G>T) c.19+27G>T | gnomAD v4 |
4 | g.52038200C= | CA1457434149 | SGCB | c.33+27G= (n.33+27G=) c.19+27G= | |
4 | g.52038200C>T | CA551343891 | SGCB | c.33+27G>A (n.33+27G>A) c.19+27G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038206_52038268del | CA2670614562 | SGCB | c.-3_33+27del | gnomAD v4 |
4 | g.52038201C>A | CA2670614566 | SGCB | c.33+26G>T (n.33+26G>T) c.19+26G>T | gnomAD v4 |
4 | g.52038201C>T | CA2670614567 | SGCB | c.33+26G>A (n.33+26G>A) c.19+26G>A | gnomAD v4 |
4 | g.52038208_52038213del | CA2670614564 | SGCB | c.33+21_33+26del (n.33+21_33+26del) c.19+21_19+26del | gnomAD v4 |
4 | g.52038205_52038250del | CA2670614565 | SGCB | c.14_33+26del | gnomAD v4 |
4 | g.52038202C>A | CA2670614568 | SGCB | c.33+25G>T (n.33+25G>T) c.19+25G>T | gnomAD v4 |
4 | g.52038202C= | CA1457434150 | SGCB | c.33+25G= (n.33+25G=) c.19+25G= | |
4 | g.52038202C>T | CA1457434151 | SGCB | c.33+25G>A (n.33+25G>A) c.19+25G>A | dbSNP gnomAD v4 |
4 | g.52038203G>A | CA796086087 | SGCB | c.33+24C>T (n.33+24C>T) c.19+24C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038203G>C | CA2670614569 | SGCB | c.33+24C>G (n.33+24C>G) c.19+24C>G | dbSNP gnomAD v4 |
4 | g.52038203G= | CA1457434152 | SGCB | c.33+24C= (n.33+24C=) c.19+24C= | |
4 | g.52038203G>T | CA2670614570 | SGCB | c.33+24C>A (n.33+24C>A) c.19+24C>A | gnomAD v4 |
4 | g.52038204C>A | CA2670614571 | SGCB | c.33+23G>T (n.33+23G>T) c.19+23G>T | gnomAD v4 |
4 | g.52038204C= | CA1457434153 | SGCB | c.33+23G= (n.33+23G=) c.19+23G= | |
4 | g.52038204C>G | CA96791537 | SGCB | c.33+23G>C (n.33+23G>C) c.19+23G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038204C>T | CA2670614572 | SGCB | c.33+23G>A (n.33+23G>A) c.19+23G>A | gnomAD v4 |
4 | g.52038205G>A | CA2670614575 | SGCB | c.33+22C>T (n.33+22C>T) c.19+22C>T | gnomAD v4 |
4 | g.52038205G>C | CA2670614573 | SGCB | c.33+22C>G (n.33+22C>G) c.19+22C>G | gnomAD v4 |
4 | g.52038205G>T | CA2670614574 | SGCB | c.33+22C>A (n.33+22C>A) c.19+22C>A | gnomAD v4 |
4 | g.52038206G>A | CA2670614577 | SGCB | c.33+21C>T (n.33+21C>T) c.19+21C>T | gnomAD v4 |
4 | g.52038206G>C | CA2670614578 | SGCB | c.33+21C>G (n.33+21C>G) c.19+21C>G | gnomAD v4 |
4 | g.52038206G= | CA1457434154 | SGCB | c.33+21C= (n.33+21C=) c.19+21C= | |
4 | g.52038206G>T | CA2918523 | SGCB | c.33+21C>A (n.33+21C>A) c.19+21C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52038211_52038279del | CA2670614576 | SGCB | c.-15_33+21del | gnomAD v4 |
4 | g.52038207C>A | CA2670614580 | SGCB | c.33+20G>T (n.33+20G>T) c.19+20G>T | gnomAD v4 |
4 | g.52038207C>G | CA2670614581 | SGCB | c.33+20G>C (n.33+20G>C) c.19+20G>C | gnomAD v4 |
4 | g.52038207C>T | CA2670614582 | SGCB | c.33+20G>A (n.33+20G>A) c.19+20G>A | gnomAD v4 |
4 | g.52038211_52038273del | CA2670614579 | SGCB | c.-10_33+20del | gnomAD v4 |
4 | g.52038208C>A | CA2670614583 | SGCB | c.33+19G>T (n.33+19G>T) c.19+19G>T | gnomAD v4 |
4 | g.52038208C>G | CA2670614585 | SGCB | c.33+19G>C (n.33+19G>C) c.19+19G>C | gnomAD v4 |
4 | g.52038208C>T | CA2670614584 | SGCB | c.33+19G>A (n.33+19G>A) c.19+19G>A | gnomAD v4 |
4 | g.52038209G>A | CA1062454428 | SGCB | c.33+18C>T (n.33+18C>T) c.19+18C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038209G= | CA1457434155 | SGCB | c.33+18C= (n.33+18C=) c.19+18C= | |
4 | g.52038209G>T | CA2670614586 | SGCB | c.33+18C>A (n.33+18C>A) c.19+18C>A | gnomAD v4 |
4 | g.52038210C>A | CA2670614587 | SGCB | c.33+17G>T (n.33+17G>T) c.19+17G>T | gnomAD v4 |
4 | g.52038210C= | CA1457434156 | SGCB | c.33+17G= (n.33+17G=) c.19+17G= | |
4 | g.52038210C>G | CA2670614588 | SGCB | c.33+17G>C (n.33+17G>C) c.19+17G>C | ClinVar gnomAD v4 |
4 | g.52038210C>T | CA551343892 | SGCB | c.33+17G>A (n.33+17G>A) c.19+17G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038211G>A | CA2573137766 | SGCB | c.33+16C>T (n.33+16C>T) c.19+16C>T | ClinVar dbSNP gnomAD v4 |
4 | g.52038211G>C | CA2670614589 | SGCB | c.33+16C>G (n.33+16C>G) c.19+16C>G | gnomAD v4 |
4 | g.52038211G= | CA1457434157 | SGCB | c.33+16C= (n.33+16C=) c.19+16C= | |
4 | g.52038211G>T | CA2918524 | SGCB | c.33+16C>A (n.33+16C>A) c.19+16C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038212G>A | CA2670614590 | SGCB | c.33+15C>T (n.33+15C>T) c.19+15C>T | ClinVar gnomAD v4 |
4 | g.52038212G>C | CA2670614591 | SGCB | c.33+15C>G (n.33+15C>G) c.19+15C>G | gnomAD v4 |
4 | g.52038212G>T | CA2670614592 | SGCB | c.33+15C>A (n.33+15C>A) c.19+15C>A | gnomAD v4 |
4 | g.52038213C>A | CA2670614593 | SGCB | c.33+14G>T (n.33+14G>T) c.19+14G>T | gnomAD v4 |
4 | g.52038213C= | CA1457434158 | SGCB | c.33+14G= (n.33+14G=) c.19+14G= | |
4 | g.52038213C>G | CA2670614594 | SGCB | c.33+14G>C (n.33+14G>C) c.19+14G>C | gnomAD v4 |
4 | g.52038213C>T | CA551343893 | SGCB | c.33+14G>A (n.33+14G>A) c.19+14G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038214G>A | CA2533808630 | SGCB | c.33+13C>T (n.33+13C>T) c.19+13C>T | ClinVar gnomAD v4 |
4 | g.52038214G>C | CA2697546694 | SGCB | c.33+13C>G (n.33+13C>G) c.19+13C>G | ClinVar |
4 | g.52038214G= | CA1457434159 | SGCB | c.33+13C= (n.33+13C=) c.19+13C= | |
4 | g.52038214G>T | CA1457434160 | SGCB | c.33+13C>A (n.33+13C>A) c.19+13C>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038215G>A | CA96791565 | SGCB | c.33+12C>T (n.33+12C>T) c.19+12C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038215G>C | CA2670614595 | SGCB | c.33+12C>G (n.33+12C>G) c.19+12C>G | gnomAD v4 |
4 | g.52038215G= | CA1457434161 | SGCB | c.33+12C= (n.33+12C=) c.19+12C= | |
4 | g.52038215G>T | CA2578086725 | SGCB | c.33+12C>A (n.33+12C>A) c.19+12C>A | ClinVar gnomAD v4 |
4 | g.52038216T>C | CA2670614596 | SGCB | c.33+11A>G (n.33+11A>G) c.19+11A>G | ClinVar gnomAD v4 |
4 | g.52038216T>G | CA2761648134 | SGCB | c.33+11A>C (n.33+11A>C) c.19+11A>C | |
4 | g.52038217del | CA2670614597 | SGCB | c.33+10del (n.33+10del) c.19+10del | gnomAD v4 |
4 | g.52038217A= | CA1457434162 | SGCB | c.33+10T= (n.33+10T=) c.19+10T= | |
4 | g.52038217A>G | CA96791567 | SGCB | c.33+10T>C (n.33+10T>C) c.19+10T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038217A>T | CA2670614598 | SGCB | c.33+10T>A (n.33+10T>A) c.19+10T>A | gnomAD v4 |
4 | g.52038217_52038218del | CA2670614599 | SGCB | c.33+9_33+10del (n.33+9_33+10del) c.19+9_19+10del | gnomAD v4 |
4 | g.52038218C>A | CA2670614600 | SGCB | c.33+9G>T (n.33+9G>T) c.19+9G>T | gnomAD v4 |
4 | g.52038218C= | CA1457434163 | SGCB | c.33+9G= (n.33+9G=) c.19+9G= | |
4 | g.52038218C>G | CA1457434164 | SGCB | c.33+9G>C (n.33+9G>C) c.19+9G>C | ClinVar dbSNP gnomAD v4 |
4 | g.52038218C>T | CA10605300 | SGCB | c.33+9G>A (n.33+9G>A) c.19+9G>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038219T>A | CA2670614601 | SGCB | c.33+8A>T (n.33+8A>T) c.19+8A>T | gnomAD v4 |
4 | g.52038219T>C | CA551343894 | SGCB | c.33+8A>G (n.33+8A>G) c.19+8A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038219T= | CA1457434166 | SGCB | c.33+8A= (n.33+8A=) c.19+8A= | |
4 | g.52038219_52038221delinsTCA | CA1457434165 | SGCB | c.33+6_33+8delinsTGA (n.33+6_33+8delinsTGA) c.19+6_19+8delinsTGA | |
4 | g.52038220C>A | CA2670614602 | SGCB | c.33+7G>T (n.33+7G>T) c.19+7G>T | gnomAD v4 |
4 | g.52038220C>T | CA2573137767 | SGCB | c.33+7G>A (n.33+7G>A) c.19+7G>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038222_52038223del | CA1457434167 | SGCB | c.33+6_33+7del (n.33+6_33+7del) c.19+6_19+7del | dbSNP |
4 | g.52038221A= | CA1457434168 | SGCB | c.33+6T= (n.33+6T=) c.19+6T= | |
4 | g.52038221A>C | CA1062454450 | SGCB | c.33+6T>G (n.33+6T>G) c.19+6T>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038221A>G | CA2670614603 | SGCB | c.33+6T>C (n.33+6T>C) c.19+6T>C | gnomAD v4 |
4 | g.52038221A>T | CA10606865 | SGCB | c.33+6T>A (n.33+6T>A) c.19+6T>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038222C>A | CA2670614606 | SGCB | c.33+5G>T (n.33+5G>T) c.19+5G>T | gnomAD v4 |
4 | g.52038222C>G | CA2670614605 | SGCB | c.33+5G>C (n.33+5G>C) c.19+5G>C | gnomAD v4 |
4 | g.52038222C>T | CA2670614604 | SGCB | c.33+5G>A (n.33+5G>A) c.19+5G>A | gnomAD v4 |
4 | g.52038223A= | CA1457434169 | SGCB | c.33+4T= (n.33+4T=) c.19+4T= | |
4 | g.52038223A>G | CA1062454457 | SGCB | c.33+4T>C (n.33+4T>C) c.19+4T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038223A>T | CA2670614608 | SGCB | c.33+4T>A (n.33+4T>A) c.19+4T>A | gnomAD v4 |
4 | g.52038223dup | CA2670614607 | SGCB | c.33+4dup (n.33+4dup) c.19+4dup | gnomAD v4 |
4 | g.52038224G>A | CA551343897 | SGCB | c.33+3C>T (n.33+3C>T) c.19+3C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038224G>C | CA2580071064 | SGCB | c.33+3C>G (n.33+3C>G) c.19+3C>G | ClinVar |
4 | g.52038224G= | CA1457434170 | SGCB | c.33+3C= (n.33+3C=) c.19+3C= | |
4 | g.52038224G>T | CA2670614610 | SGCB | c.33+3C>A (n.33+3C>A) c.19+3C>A | gnomAD v4 |
4 | g.52038226_52038227insAGGAC | CA2670614609 | SGCB | c.33+3_33+4insCTGTC (n.33+3_33+4insCTGTC) c.19+3_19+4insCTGTC | gnomAD v4 |
4 | g.52038225A>C | CA356878661 | SGCB | c.33+2T>G (n.33+2T>G) c.19+2T>G | gnomAD v4 |
4 | g.52038225A>G | CA356878662 | SGCB | c.33+2T>C (n.33+2T>C) c.19+2T>C | gnomAD v4 |
4 | g.52038225A>T | CA356878663 | SGCB | c.33+2T>A (n.33+2T>A) c.19+2T>A | ClinVar dbSNP |
4 | g.52038226C>A | CA356878664 | SGCB | c.33+1G>T (n.33+1G>T) c.19+1G>T | gnomAD v4 |
4 | g.52038226C= | CA1457434172 | SGCB | c.33+1G= (n.33+1G=) c.19+1G= | |
4 | g.52038226C>G | CA356878666 | SGCB | c.33+1G>C (n.33+1G>C) c.19+1G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038226C>T | CA356878665 | SGCB | c.33+1G>A (n.33+1G>A) c.19+1G>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038226_52038231delinsCCTGTT | CA1457434171 | SGCB | c.29_33+1delinsAACAGG c.15_19+1delinsAACAGG | |
4 | g.52038227C>A | CA356878667 | SGCB | c.33G>T (p.Gln11His) c.19G>T | dbSNP gnomAD v4 |
4 | g.52038227C= | CA1457434173 | SGCB | c.33G= (p.Gln11=) c.19G= | |
4 | g.52038227C>G | CA356878668 | SGCB | c.33G>C (p.Gln11His) c.19G>C | ClinVar dbSNP gnomAD v4 |
4 | g.52038227C>T | CA439274982 | SGCB | c.33G>A (p.Gln11=) c.19G>A | dbSNP gnomAD v4 |
4 | g.52038230_52038234del | CA16040956 | SGCB | c.29_33del (p.Glu10AlafsTer13) c.15_19del c.29_33del (p.Glu10AspfsTer17) | ClinVar dbSNP |
4 | g.52038228T>A | CA356878669 | SGCB | c.32A>T (p.Gln11Leu) c.18A>T | |
4 | g.52038228T>C | CA356878670 | SGCB | c.32A>G (p.Gln11Arg) c.18A>G | ClinVar dbSNP gnomAD v4 |
4 | g.52038228T>G | CA356878671 | SGCB | c.32A>C (p.Gln11Pro) c.18A>C | |
4 | g.52038228dup | CA200293 | SGCB | c.32dup (p.Gln12AlafsTer13) c.18dup c.32dup (p.Ile12AspfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038229G>A | CA10604818 | SGCB | c.31C>T (p.Gln11Ter) c.17C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038229G>C | CA2918525 | SGCB | c.31C>G (p.Gln11Glu) c.17C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038229G= | CA1457434174 | SGCB | c.31C= (p.Gln11=) c.17C= | |
4 | g.52038229G>T | CA356878672 | SGCB | c.31C>A (p.Gln11Lys) c.17C>A | gnomAD v4 |
4 | g.52038230T>A | CA356878673 | SGCB | c.30A>T (p.Glu10Asp) c.16A>T | gnomAD v4 |
4 | g.52038230T>C | CA439274983 | SGCB | c.30A>G (p.Glu10=) c.16A>G | gnomAD v4 |
4 | g.52038230T>G | CA356878674 | SGCB | c.30A>C (p.Glu10Asp) c.16A>C | gnomAD v4 |
4 | g.52038231del | CA2524524599 | SGCB | c.30del (p.Glu10AspfsTer9) c.16del c.30del (p.Glu10AspfsTer3) | ClinVar dbSNP gnomAD v4 |
4 | g.52038231T>A | CA356878677 | SGCB | c.29A>T (p.Glu10Val) c.15A>T | gnomAD v4 |
4 | g.52038231T>C | CA356878675 | SGCB | c.29A>G (p.Glu10Gly) c.15A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038231T>G | CA356878676 | SGCB | c.29A>C (p.Glu10Ala) c.15A>C | dbSNP |
4 | g.52038231T= | CA1457434175 | SGCB | c.29A= (p.Glu10=) c.15A= | |
4 | g.52038232C>A | CA356878678 | SGCB | c.28G>T (p.Glu10Ter) c.14G>T | ClinVar dbSNP gnomAD v4 |
4 | g.52038232C= | CA1457434176 | SGCB | c.28G= (p.Glu10=) c.14G= | |
4 | g.52038232C>G | CA356878679 | SGCB | c.28G>C (p.Glu10Gln) c.14G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038232C>T | CA356878680 | SGCB | c.28G>A (p.Glu10Lys) c.14G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038233T>A | CA439274984 | SGCB | c.27A>T (p.Ala9=) c.13A>T | gnomAD v4 |
4 | g.52038233T>C | CA439274985 | SGCB | c.27A>G (p.Ala9=) c.13A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038233T>G | CA439274986 | SGCB | c.27A>C (p.Ala9=) c.13A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038233T= | CA1457434177 | SGCB | c.27A= (p.Ala9=) c.13A= | |
4 | g.52038234G>A | CA356878681 | SGCB | c.26C>T (p.Ala9Val) c.12C>T | ClinVar gnomAD v4 |
4 | g.52038234G>C | CA356878682 | SGCB | c.26C>G (p.Ala9Gly) c.12C>G | gnomAD v4 |
4 | g.52038234G>T | CA356878683 | SGCB | c.26C>A (p.Ala9Glu) c.12C>A | gnomAD v4 |
4 | g.52038236_52038238dup | CA2670614611 | SGCB | c.24_26dup (p.Ala9_Glu10insAla) c.10_12dup | gnomAD v4 |
4 | g.52038236_52038238del | CA2670614613 | SGCB | c.24_26del (p.Ala9del) c.10_12del | gnomAD v4 |
4 | g.52038236_52038250del | CA2670614612 | SGCB | c.12_26del (p.Ala5_Ala9del) | gnomAD v4 |
4 | g.52038235C>A | CA356878684 | SGCB | c.25G>T (p.Ala9Ser) c.11G>T | gnomAD v4 |
4 | g.52038235C>G | CA356878685 | SGCB | c.25G>C (p.Ala9Pro) c.11G>C | |
4 | g.52038235C>T | CA356878686 | SGCB | c.25G>A (p.Ala9Thr) c.11G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038236A= | CA1457434178 | SGCB | c.24T= (p.Ala8=) c.10T= | |
4 | g.52038236A>C | CA439274987 | SGCB | c.24T>G (p.Ala8=) c.10T>G | gnomAD v4 |
4 | g.52038236A>G | CA439274988 | SGCB | c.24T>C (p.Ala8=) c.10T>C | ClinVar dbSNP gnomAD v4 |
4 | g.52038236A>T | CA439274989 | SGCB | c.24T>A (p.Ala8=) c.10T>A | gnomAD v4 |
4 | g.52038236dup | CA913106909 | SGCB | c.24dup (p.Ala9CysfsTer16) c.10dup c.24dup (p.Ala9CysfsTer20) | |
4 | g.52038236_52038245delinsAGCCGCCGCC | CA1457434179 | SGCB | c.15_24delinsGGCGGCGGCT (p.Ala5=) c.1_10delinsGGCGGCGGCT | |
4 | g.52038237G>A | CA356878688 | SGCB | c.23C>T (p.Ala8Val) c.9C>T | dbSNP gnomAD v4 |
4 | g.52038237G>C | CA356878689 | SGCB | c.23C>G (p.Ala8Gly) c.9C>G | dbSNP gnomAD v4 |
4 | g.52038237G= | CA1457434181 | SGCB | c.23C= (p.Ala8=) c.9C= | |
4 | g.52038237G>T | CA356878687 | SGCB | c.23C>A (p.Ala8Asp) c.9C>A | gnomAD v4 |
4 | g.52038248_52038250dup | CA238567 | SGCB | c.21_23dup (p.Ala8_Ala9insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038245_52038250dup | CA10604499 | SGCB | c.18_23dup (p.Ala8_Ala9insAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038248_52038250del | CA2918526 | SGCB | c.21_23del (p.Ala8del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038245_52038250del | CA2670614615 | SGCB | c.18_23del (p.Ala7_Ala8del) | gnomAD v4 |
4 | g.52038242_52038250del | CA1457434180 | SGCB | c.15_23del (p.Ala6_Ala8del) | dbSNP gnomAD v4 |
4 | g.52038243_52038257dup | CA658822653 | SGCB | c.9_23dup (p.Ala8_Ala9insAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038247_52038281dup | CA2739270062 | SGCB | c.-12_23dup (p.Ala9GlyfsTer22) c.-12_23dup (p.Ala9GlyfsTer16) | ClinVar |
4 | g.52038247_52038281del | CA2670614614 | SGCB | c.-12_23del | gnomAD v4 |
4 | g.52038238C>A | CA356878690 | SGCB | c.22G>T (p.Ala8Ser) c.8G>T | gnomAD v4 |
4 | g.52038238C>G | CA356878691 | SGCB | c.22G>C (p.Ala8Pro) c.8G>C | gnomAD v4 |
4 | g.52038238C>T | CA356878692 | SGCB | c.22G>A (p.Ala8Thr) c.8G>A | gnomAD v4 |
4 | g.52038238_52038250dup | CA2586973779 | SGCB | c.10_22dup (p.Ala8GlyfsTer21) c.10_22dup (p.Ala8GlyfsTer25) | |
4 | g.52038250_52038281dup | CA658657385 | SGCB | c.-10_22dup (p.Ala8GlyfsTer22) c.-10_22dup (p.Ala8GlyfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038250_52038281del | CA2670614616 | SGCB | c.-10_22del | gnomAD v4 |
4 | g.52038239C>A | CA439274990 | SGCB | c.21G>T (p.Ala7=) c.7G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038239C= | CA1457434182 | SGCB | c.21G= (p.Ala7=) c.7G= | |
4 | g.52038239C>G | CA439274991 | SGCB | c.21G>C (p.Ala7=) c.7G>C | |
4 | g.52038239C>T | CA439274992 | SGCB | c.21G>A (p.Ala7=) c.7G>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038240G>A | CA356878693 | SGCB | c.20C>T (p.Ala7Val) c.6C>T | dbSNP gnomAD v4 |
4 | g.52038240G>C | CA356878694 | SGCB | c.20C>G (p.Ala7Gly) c.6C>G | gnomAD v4 |
4 | g.52038240G= | CA1457434183 | SGCB | c.20C= (p.Ala7=) c.6C= | |
4 | g.52038240G>T | CA10606311 | SGCB | c.20C>A (p.Ala7Glu) c.6C>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038246_52038257dup | CA2670614618 | SGCB | c.9_20dup (p.Ala7_Ala8insAlaAlaAlaAla) | gnomAD v4 |
4 | g.52038246_52038257del | CA2670614617 | SGCB | c.9_20del (p.Ala4_Ala7del) | gnomAD v4 |
4 | g.52038241C>A | CA356878695 | SGCB | c.19G>T (p.Ala7Ser) c.5G>T | gnomAD v4 |
4 | g.52038241C>G | CA356878696 | SGCB | c.19G>C (p.Ala7Pro) c.5G>C | gnomAD v4 |
4 | g.52038241C>T | CA356878697 | SGCB | c.19G>A (p.Ala7Thr) c.5G>A | ClinVar dbSNP gnomAD v4 |
4 | g.52038242dup | CA913106910 | SGCB | c.19dup (p.Ala7GlyfsTer18) c.5dup c.19dup (p.Ala7GlyfsTer22) | |
4 | g.52038242del | CA2578086726 | SGCB | c.19del (p.Ala7ArgfsTer12) c.5del c.19del (p.Ala7ArgfsTer6) | |
4 | g.52038242_52038248del | CA2586973780 | SGCB | c.13_19del (p.Ala5ArgfsTer12) c.13_19del (p.Ala5ArgfsTer6) | |
4 | g.52038245_52038267del | CA2670614619 | SGCB | c.-4_19del | gnomAD v4 |
4 | g.52038251_52038279dup | CA1062454577 | SGCB | c.-10_19dup (p.Ala7GlyfsTer22) c.-10_19dup (p.Ala7GlyfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038251_52038279del | CA2670614620 | SGCB | c.-10_19del | gnomAD v4 |
4 | g.52038242C>A | CA439274993 | SGCB | c.18G>T (p.Ala6=) c.4G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038242C= | CA1457434184 | SGCB | c.18G= (p.Ala6=) c.4G= | |
4 | g.52038242C>G | CA439274994 | SGCB | c.18G>C (p.Ala6=) c.4G>C | gnomAD v4 |
4 | g.52038242C>T | CA96791660 | SGCB | c.18G>A (p.Ala6=) c.4G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038243G>A | CA356878698 | SGCB | c.17C>T (p.Ala6Val) c.3C>T | ClinVar dbSNP gnomAD v4 |
4 | g.52038243G>C | CA356878699 | SGCB | c.17C>G (p.Ala6Gly) c.3C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038243G= | CA1457434185 | SGCB | c.17C= (p.Ala6=) c.3C= | |
4 | g.52038243G>T | CA356878700 | SGCB | c.17C>A (p.Ala6Glu) c.3C>A | gnomAD v4 |
4 | g.52038249_52038257dup | CA658822654 | SGCB | c.9_17dup (p.Ala6_Ala7insAlaAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038249_52038257del | CA2670614621 | SGCB | c.9_17del (p.Ala4_Ala6del) | gnomAD v4 |
4 | g.52038244C>A | CA356878701 | SGCB | c.16G>T (p.Ala6Ser) c.2G>T | gnomAD v4 |
4 | g.52038244C= | CA1457434186 | SGCB | c.16G= (p.Ala6=) c.2G= | |
4 | g.52038244C>G | CA356878702 | SGCB | c.16G>C (p.Ala6Pro) c.2G>C | gnomAD v4 |
4 | g.52038244C>T | CA96791661 | SGCB | c.16G>A (p.Ala6Thr) c.2G>A | dbSNP gnomAD v4 |
4 | g.52038251_52038276dup | CA2670614622 | SGCB | c.-10_16dup (p.Ala6GlyfsTer22) c.-10_16dup (p.Ala6GlyfsTer16) | ClinVar gnomAD v4 |
4 | g.52038245C>A | CA439274995 | SGCB | c.15G>T (p.Ala5=) c.1G>T | gnomAD v4 |
4 | g.52038245C= | CA1457434187 | SGCB | c.15G= (p.Ala5=) c.1G= | |
4 | g.52038245C>G | CA439274997 | SGCB | c.15G>C (p.Ala5=) c.1G>C | gnomAD v4 |
4 | g.52038245C>T | CA439274996 | SGCB | c.15G>A (p.Ala5=) c.1G>A | ClinVar dbSNP gnomAD v4 |