Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
4 | g.52038246del | CA2670614623 | SGCB | c.14del (p.Ala5GlyfsTer14) c.14del (p.Ala5GlyfsTer8) | gnomAD v4 |
4 | g.52038246G>A | CA356878703 | SGCB | c.14C>T (p.Ala5Val) | ClinVar dbSNP gnomAD v4 |
4 | g.52038246G>C | CA356878704 | SGCB | c.14C>G (p.Ala5Gly) | dbSNP gnomAD v4 |
4 | g.52038246G= | CA1457434188 | SGCB | c.14C= (p.Ala5=) | |
4 | g.52038246G>T | CA96791683 | SGCB | c.14C>A (p.Ala5Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038247_52038248insTGC | CA551343929 | SGCB | c.14_15insAGC (p.Ala5_Ala6insAla) | dbSNP gnomAD v2 |
4 | g.52038251_52038256dup | CA10606351 | SGCB | c.9_14dup (p.Ala5_Ala6insAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038247C>A | CA356878707 | SGCB | c.13G>T (p.Ala5Ser) | gnomAD v4 |
4 | g.52038247C>G | CA356878706 | SGCB | c.13G>C (p.Ala5Pro) | |
4 | g.52038247C>T | CA356878705 | SGCB | c.13G>A (p.Ala5Thr) | gnomAD v4 |
4 | g.52038251_52038273dup | CA2670614624 | SGCB | c.-10_13dup (p.Ala5GlyfsTer22) c.-10_13dup (p.Ala5GlyfsTer16) | gnomAD v4 |
4 | g.52038251_52038273del | CA2573137768 | SGCB | c.-10_13del | ClinVar dbSNP |
4 | g.52038248C>A | CA439274998 | SGCB | c.12G>T (p.Ala4=) | ClinVar dbSNP gnomAD v4 |
4 | g.52038248C= | CA1457434189 | SGCB | c.12G= (p.Ala4=) | |
4 | g.52038248C>G | CA439274999 | SGCB | c.12G>C (p.Ala4=) | ClinVar dbSNP gnomAD v4 |
4 | g.52038248C>T | CA2918527 | SGCB | c.12G>A (p.Ala4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038249del | CA2670614625 | SGCB | c.11del (p.Ala4GlyfsTer15) c.11del (p.Ala4GlyfsTer9) | gnomAD v4 |
4 | g.52038249G>A | CA96791709 | SGCB | c.11C>T (p.Ala4Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038249G>C | CA356878708 | SGCB | c.11C>G (p.Ala4Gly) | |
4 | g.52038249G= | CA1457434190 | SGCB | c.11C= (p.Ala4=) | |
4 | g.52038249G>T | CA356878709 | SGCB | c.11C>A (p.Ala4Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038249_52038250insAG | CA2670614627 | SGCB | c.11_12insTC (p.Ala5ArgfsTer15) c.11_12insTC (p.Ala5ArgfsTer9) | gnomAD v4 |
4 | g.52038251_52038253del | CA2670614626 | SGCB | c.9_11del (p.Ala4del) | gnomAD v4 |
4 | g.52038249_52038250insAGCT | CA2670614628 | SGCB | c.10_11insAGCT (p.Ala4GlufsTer22) c.10_11insAGCT (p.Ala4GlufsTer26) | gnomAD v4 |
4 | g.52038250C>A | CA356878710 | SGCB | c.10G>T (p.Ala4Ser) | gnomAD v4 |
4 | g.52038250C>G | CA356878711 | SGCB | c.10G>C (p.Ala4Pro) | ClinVar gnomAD v4 |
4 | g.52038250C>T | CA356878712 | SGCB | c.10G>A (p.Ala4Thr) | gnomAD v4 |
4 | g.52038250_52038251insCG | CA2670614629 | SGCB | c.9_10insCG (p.Ala4ArgfsTer16) c.9_10insCG (p.Ala4ArgfsTer10) | gnomAD v4 |
4 | g.52038251T>A | CA439275000 | SGCB | c.9A>T (p.Ala3=) | ClinVar gnomAD v4 |
4 | g.52038251T>C | CA10605972 | SGCB | c.9A>G (p.Ala3=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038251T>G | CA439275001 | SGCB | c.9A>C (p.Ala3=) | gnomAD v4 |
4 | g.52038251T= | CA1457434191 | SGCB | c.9A= (p.Ala3=) | |
4 | g.52038251_52038274delinsTGCCGCCATCTTCCCGCGCCCGCC | CA1457434192 | SGCB | c.-15_9delinsGGCGGGCGCGGGAAGATGGCGGCA | |
4 | g.52038252G>A | CA356878715 | SGCB | c.8C>T (p.Ala3Val) | dbSNP gnomAD v4 |
4 | g.52038252G>C | CA356878713 | SGCB | c.8C>G (p.Ala3Gly) | gnomAD v4 |
4 | g.52038252G= | CA1457434193 | SGCB | c.8C= (p.Ala3=) | |
4 | g.52038252G>T | CA356878714 | SGCB | c.8C>A (p.Ala3Glu) | ClinVar dbSNP gnomAD v4 |
4 | g.52038252_52038257dup | CA2670614630 | SGCB | c.3_8dup (p.Ala3_Ala4insAlaAla) | gnomAD v4 |
4 | g.52038255_52038270dup | CA2670614632 | SGCB | c.-8_8dup (p.Ala4ArgfsTer26) c.-8_8dup (p.Ala4ArgfsTer30) | ClinVar gnomAD v4 |
4 | g.52038258_52038277dup | CA796086297 | SGCB | c.-12_8dup (p.Ala4GlyfsTer22) c.-12_8dup (p.Ala4GlyfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038258_52038280dup | CA2695199379 | SGCB | c.-15_8dup (p.Ala5GlyfsTer22) c.-15_8dup (p.Ala5GlyfsTer16) | ClinVar |
4 | g.52038258_52038280del | CA16040957 | SGCB | c.-15_8del | ClinVar dbSNP gnomAD v4 |
4 | g.52038256_52038281dup | CA2499217223 | SGCB | c.-18_8dup (p.Ala6GlyfsTer22) c.-18_8dup (p.Ala6GlyfsTer16) | ClinVar dbSNP gnomAD v4 |
4 | g.52038256_52038281del | CA2670614633 | SGCB | c.-18_8del | gnomAD v4 |
4 | g.52038253_52038281del | CA2670614631 | SGCB | c.-21_8del | gnomAD v4 |
4 | g.52038253C>A | CA356878716 | SGCB | c.7G>T (p.Ala3Ser) | gnomAD v4 |
4 | g.52038253C>G | CA356878717 | SGCB | c.7G>C (p.Ala3Pro) | |
4 | g.52038253C>T | CA356878718 | SGCB | c.7G>A (p.Ala3Thr) | gnomAD v4 |
4 | g.52038254C>A | CA439275003 | SGCB | c.6G>T (p.Ala2=) | ClinVar gnomAD v4 |
4 | g.52038254C>G | CA439275004 | SGCB | c.6G>C (p.Ala2=) | ClinVar |
4 | g.52038254C>T | CA439275005 | SGCB | c.6G>A (p.Ala2=) | ClinVar gnomAD v4 |
4 | g.52038255del | CA2670614634 | SGCB | c.5del (p.Ala2GlyfsTer17) c.5del (p.Ala2GlyfsTer11) | gnomAD v4 |
4 | g.52038255G>A | CA356878721 | SGCB | c.5C>T (p.Ala2Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52038255G>C | CA356878720 | SGCB | c.5C>G (p.Ala2Gly) | dbSNP gnomAD v4 |
4 | g.52038255G= | CA1457434194 | SGCB | c.5C= (p.Ala2=) | |
4 | g.52038255G>T | CA356878719 | SGCB | c.5C>A (p.Ala2Glu) | gnomAD v4 |
4 | g.52038256C>A | CA356878722 | SGCB | c.4G>T (p.Ala2Ser) | gnomAD v4 |
4 | g.52038256C>G | CA356878723 | SGCB | c.4G>C (p.Ala2Pro) | gnomAD v4 |
4 | g.52038256C>T | CA356878724 | SGCB | c.4G>A (p.Ala2Thr) | gnomAD v4 |
4 | g.52038257C>A | CA356878725 | SGCB | c.3G>T (p.Met1Ile) | ClinVar dbSNP gnomAD v4 |
4 | g.52038257C>G | CA356878726 | SGCB | c.3G>C (p.Met1Ile) | |
4 | g.52038257C>T | CA356878727 | SGCB | c.3G>A (p.Met1Ile) | dbSNP gnomAD v4 |
4 | g.52038257_52038259delinsCAT | CA1457434195 | SGCB | c.1_3delinsATG (p.Met1=) | |
4 | g.52038258A= | CA1457434196 | SGCB | c.2T= (p.Met1=) | |
4 | g.52038258A>C | CA356878728 | SGCB | c.2T>G (p.Met1Arg) | |
4 | g.52038258A>G | CA356878730 | SGCB | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
4 | g.52038258A>T | CA356878729 | SGCB | c.2T>A (p.Met1Lys) | gnomAD v4 |
4 | g.52038258_52038259del | CA10604324 | SGCB | c.1_2del (p.Met1GlyfsTer23) c.1_2del (p.Met1GlyfsTer27) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038259T>A | CA356878731 | SGCB | c.1A>T (p.Met1Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.52038259T>C | CA200290 | SGCB | c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038259T>G | CA356878732 | SGCB | c.1A>C (p.Met1Leu) | |
4 | g.52038259T= | CA1457434197 | SGCB | c.1A= (p.Met1=) | |
4 | g.52038260C>A | CA2670614637 | SGCB | c.-1G>T (n.-1G>T) | gnomAD v4 |
4 | g.52038260C>G | CA2670614636 | SGCB | c.-1G>C (n.-1G>C) | gnomAD v4 |
4 | g.52038260C>T | CA2670614635 | SGCB | c.-1G>A (n.-1G>A) | gnomAD v4 |
4 | g.52038261T>A | CA2761648135 | SGCB | c.-2A>T (n.-2A>T) | |
4 | g.52038261T>C | CA2670614638 | SGCB | c.-2A>G (n.-2A>G) | gnomAD v4 |
4 | g.52038261T>G | CA2761648136 | SGCB | c.-2A>C (n.-2A>C) | |
4 | g.52038262T>A | CA2670614639 | SGCB | c.-3A>T (n.-3A>T) | gnomAD v4 |
4 | g.52038262T>C | CA1457434199 | SGCB | c.-3A>G (n.-3A>G) | dbSNP gnomAD v4 |
4 | g.52038262T>G | CA1457434200 | SGCB | c.-3A>C (n.-3A>C) | dbSNP |
4 | g.52038262T= | CA1457434198 | SGCB | c.-3A= (n.-3A=) | |
4 | g.52038263C>A | CA645372395 | SGCB | c.-4G>T (n.-4G>T) | ClinVar dbSNP gnomAD v4 |
4 | g.52038263C= | CA1457434201 | SGCB | c.-4G= (n.-4G=) | |
4 | g.52038263C>G | CA2670614641 | SGCB | c.-4G>C (n.-4G>C) | gnomAD v4 |
4 | g.52038263C>T | CA2670614640 | SGCB | c.-4G>A (n.-4G>A) | gnomAD v4 |
4 | g.52038265del | CA2670614643 | SGCB | c.-4del (n.-4del) | gnomAD v4 |
4 | g.52038264_52038265del | CA2670614642 | SGCB | c.-5_-4del (n.-5_-4del) | gnomAD v4 |
4 | g.52038264C>A | CA10621149 | SGCB | c.-5G>T (n.-5G>T) | ClinVar dbSNP gnomAD v4 |
4 | g.52038264C= | CA1457434202 | SGCB | c.-5G= (n.-5G=) | |
4 | g.52038264C>G | CA2670614644 | SGCB | c.-5G>C (n.-5G>C) | gnomAD v4 |
4 | g.52038264C>T | CA2670614645 | SGCB | c.-5G>A (n.-5G>A) | gnomAD v4 |
4 | g.52038265C>A | CA1457434204 | SGCB | c.-6G>T (n.-6G>T) | dbSNP gnomAD v4 |
4 | g.52038265C= | CA1457434203 | SGCB | c.-6G= (n.-6G=) | |
4 | g.52038265C>G | CA2670614646 | SGCB | c.-6G>C (n.-6G>C) | gnomAD v4 |
4 | g.52038265C>T | CA2670614647 | SGCB | c.-6G>A (n.-6G>A) | gnomAD v4 |
4 | g.52038266del | CA2670614648 | SGCB | c.-7del (n.-7del) | gnomAD v4 |
4 | g.52038266G>A | CA1457434206 | SGCB | c.-7C>T (n.-7C>T) | dbSNP gnomAD v4 |
4 | g.52038266G>C | CA796086337 | SGCB | c.-7C>G (n.-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038266G= | CA1457434205 | SGCB | c.-7C= (n.-7C=) | |
4 | g.52038266G>T | CA796086338 | SGCB | c.-7C>A (n.-7C>A) | dbSNP gnomAD v4 |