| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52038095_52038116del | CA2670614336 | SGCB | c.33+111_33+132del (n.33+111_33+132del) c.19+111_19+132del | gnomAD v4 |
| 4 | g.52038103_52038148del | CA2761648129 | SGCB | c.33+84_33+129del (n.33+84_33+129del) c.19+84_19+129del | |
| 4 | g.52038112_52038129del | CA2670614389 | SGCB | c.33+99_33+116del (n.33+99_33+116del) c.19+99_19+116del | gnomAD v4 |
| 4 | g.52038112_52038123del | CA2597764744 | SGCB | c.33+104_33+115del (n.33+104_33+115del) c.19+104_19+115del | gnomAD v3 gnomAD v4 |
| 4 | g.52038114del | CA2670614399 | SGCB | c.33+113del (n.33+113del) c.19+113del | gnomAD v4 |
| 4 | g.52038114A= | CA1457434086 | SGCB | c.33+113T= (n.33+113T=) c.19+113T= | |
| 4 | g.52038114A>C | CA796085989 | SGCB | c.33+113T>G (n.33+113T>G) c.19+113T>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038114A>G | CA2670614397 | SGCB | c.33+113T>C (n.33+113T>C) c.19+113T>C | gnomAD v4 |
| 4 | g.52038114A>T | CA2670614396 | SGCB | c.33+113T>A (n.33+113T>A) c.19+113T>A | gnomAD v4 |
| 4 | g.52038114_52038116del | CA2670614398 | SGCB | c.33+111_33+113del (n.33+111_33+113del) c.19+111_19+113del | gnomAD v4 |
| 4 | g.52038115_52038116del | CA2670614395 | SGCB | c.33+112_33+113del (n.33+112_33+113del) c.19+112_19+113del | gnomAD v4 |
| 4 | g.52038114_52038128del | CA2524549534 | SGCB | c.33+99_33+113del (n.33+99_33+113del) c.19+99_19+113del | |
| 4 | g.52038115del | CA2670614406 | SGCB | c.33+112del (n.33+112del) c.19+112del | gnomAD v4 |
| 4 | g.52038115G>A | CA2670614403 | SGCB | c.33+112C>T (n.33+112C>T) c.19+112C>T | gnomAD v4 |
| 4 | g.52038115G>C | CA2670614402 | SGCB | c.33+112C>G (n.33+112C>G) c.19+112C>G | gnomAD v4 |
| 4 | g.52038115G>T | CA2670614401 | SGCB | c.33+112C>A (n.33+112C>A) c.19+112C>A | gnomAD v4 |
| 4 | g.52038115_52038128del | CA2670614404 | SGCB | c.33+99_33+112del (n.33+99_33+112del) c.19+99_19+112del | gnomAD v4 |
| 4 | g.52038116_52038128del | CA2670614405 | SGCB | c.33+100_33+112del (n.33+100_33+112del) c.19+100_19+112del | gnomAD v4 |
| 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.52038116A>C | CA1062454331 | SGCB | c.33+111T>G (n.33+111T>G) c.19+111T>G | gnomAD v3 gnomAD v4 |
| 4 | g.52038116A>G | CA2670614407 | SGCB | c.33+111T>C (n.33+111T>C) c.19+111T>C | gnomAD v4 |
| 4 | g.52038116A>T | CA2670614408 | SGCB | c.33+111T>A (n.33+111T>A) c.19+111T>A | gnomAD v4 |
| 4 | g.52038117C>A | CA2670614409 | SGCB | c.33+110G>T (n.33+110G>T) c.19+110G>T | gnomAD v4 |
| 4 | g.52038117C= | CA1457434087 | SGCB | c.33+110G= (n.33+110G=) c.19+110G= | |
| 4 | g.52038117C>T | CA1062454335 | SGCB | c.33+110G>A (n.33+110G>A) c.19+110G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038118C>A | CA1457434089 | SGCB | c.33+109G>T (n.33+109G>T) c.19+109G>T | dbSNP gnomAD v4 |
| 4 | g.52038118C= | CA1457434088 | SGCB | c.33+109G= (n.33+109G=) c.19+109G= | |
| 4 | g.52038118C>T | CA796085997 | SGCB | c.33+109G>A (n.33+109G>A) c.19+109G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038120_52038126dup | CA2597764746 | SGCB | c.33+103_33+109dup (n.33+103_33+109dup) c.19+103_19+109dup | gnomAD v3 gnomAD v4 |
| 4 | g.52038119C>A | CA2670614411 | SGCB | c.33+108G>T (n.33+108G>T) c.19+108G>T | gnomAD v4 |
| 4 | g.52038119C>G | CA2670614412 | SGCB | c.33+108G>C (n.33+108G>C) c.19+108G>C | gnomAD v4 |
| 4 | g.52038119C>T | CA2670614413 | SGCB | c.33+108G>A (n.33+108G>A) c.19+108G>A | gnomAD v4 |
| 4 | g.52038119_52038123del | CA2670614410 | SGCB | c.33+104_33+108del (n.33+104_33+108del) c.19+104_19+108del | gnomAD v4 |
| 4 | g.52038120T>A | CA2670614415 | SGCB | c.33+107A>T (n.33+107A>T) c.19+107A>T | gnomAD v4 |
| 4 | g.52038120T>C | CA796085998 | SGCB | c.33+107A>G (n.33+107A>G) c.19+107A>G | dbSNP gnomAD v4 |
| 4 | g.52038120T>G | CA2670614414 | SGCB | c.33+107A>C (n.33+107A>C) c.19+107A>C | gnomAD v4 |
| 4 | g.52038120T= | CA1457434090 | SGCB | c.33+107A= (n.33+107A=) c.19+107A= | |
| 4 | g.52038121G>A | CA2670614417 | SGCB | c.33+106C>T (n.33+106C>T) c.19+106C>T | gnomAD v4 |
| 4 | g.52038121G>T | CA2670614418 | SGCB | c.33+106C>A (n.33+106C>A) c.19+106C>A | gnomAD v4 |
| 4 | g.52038124_52038130del | CA2670614416 | SGCB | c.33+100_33+106del (n.33+100_33+106del) c.19+100_19+106del | gnomAD v4 |
| 4 | g.52038122del | CA2670614419 | SGCB | c.33+105del (n.33+105del) c.19+105del | gnomAD v4 |
| 4 | g.52038122C>A | CA1457434092 | SGCB | c.33+105G>T (n.33+105G>T) c.19+105G>T | dbSNP gnomAD v4 |
| 4 | g.52038122C= | CA1457434091 | SGCB | c.33+105G= (n.33+105G=) c.19+105G= | |
| 4 | g.52038122C>T | CA2670614420 | SGCB | c.33+105G>A (n.33+105G>A) c.19+105G>A | gnomAD v4 |
| 4 | g.52038123G>A | CA796086014 | SGCB | c.33+104C>T (n.33+104C>T) c.19+104C>T | dbSNP gnomAD v4 |
| 4 | g.52038123G= | CA1457434093 | SGCB | c.33+104C= (n.33+104C=) c.19+104C= | |
| 4 | g.52038123G>T | CA2670614421 | SGCB | c.33+104C>A (n.33+104C>A) c.19+104C>A | gnomAD v4 |
| 4 | g.52038124G>A | CA2670614422 | SGCB | c.33+103C>T (n.33+103C>T) c.19+103C>T | gnomAD v4 |
| 4 | g.52038124G>T | CA2670614423 | SGCB | c.33+103C>A (n.33+103C>A) c.19+103C>A | gnomAD v4 |
| 4 | g.52038124_52038133delinsGCCCGCGCCC | CA1457434094 | SGCB | c.33+94_33+103delinsGGGCGCGGGC (n.33+94_33+103delinsGGGCGCGGGC) c.19+94_19+103delinsGGGCGCGGGC | |
| 4 | g.52038125C>A | CA2670614424 | SGCB | c.33+102G>T (n.33+102G>T) c.19+102G>T | gnomAD v4 |
| 4 | g.52038125C>T | CA2670614425 | SGCB | c.33+102G>A (n.33+102G>A) c.19+102G>A | gnomAD v4 |
| 4 | g.52038130_52038138del | CA796086016 | SGCB | c.33+94_33+102del (n.33+94_33+102del) c.19+94_19+102del | dbSNP gnomAD v4 |
| 4 | g.52038126C>A | CA96791485 | SGCB | c.33+101G>T (n.33+101G>T) c.19+101G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52038126C= | CA1457434095 | SGCB | c.33+101G= (n.33+101G=) c.19+101G= | |
| 4 | g.52038126C>T | CA2597764747 | SGCB | c.33+101G>A (n.33+101G>A) c.19+101G>A | gnomAD v3 gnomAD v4 |
| 4 | g.52038127C>A | CA2670614427 | SGCB | c.33+100G>T (n.33+100G>T) c.19+100G>T | gnomAD v4 |
| 4 | g.52038127C= | CA1457434096 | SGCB | c.33+100G= (n.33+100G=) c.19+100G= | |
| 4 | g.52038127C>T | CA1457434097 | SGCB | c.33+100G>A (n.33+100G>A) c.19+100G>A | dbSNP gnomAD v4 |
| 4 | g.52038130_52038131del | CA2670614426 | SGCB | c.33+99_33+100del (n.33+99_33+100del) c.19+99_19+100del | gnomAD v4 |
| 4 | g.52038128G>A | CA2670614429 | SGCB | c.33+99C>T (n.33+99C>T) c.19+99C>T | gnomAD v4 |
| 4 | g.52038128G>C | CA2597764748 | SGCB | c.33+99C>G (n.33+99C>G) c.19+99C>G | gnomAD v3 gnomAD v4 |
| 4 | g.52038128G>T | CA2670614430 | SGCB | c.33+99C>A (n.33+99C>A) c.19+99C>A | gnomAD v4 |
| 4 | g.52038128_52038130del | CA2670614428 | SGCB | c.33+97_33+99del (n.33+97_33+99del) c.19+97_19+99del | gnomAD v4 |
| 4 | g.52038129C>A | CA2670614431 | SGCB | c.33+98G>T (n.33+98G>T) c.19+98G>T | gnomAD v4 |
| 4 | g.52038129C= | CA1457434098 | SGCB | c.33+98G= (n.33+98G=) c.19+98G= | |
| 4 | g.52038129C>T | CA96791487 | SGCB | c.33+98G>A (n.33+98G>A) c.19+98G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038130del | CA2670614432 | SGCB | c.33+97del (n.33+97del) c.19+97del | gnomAD v4 |
| 4 | g.52038130G>A | CA2670614433 | SGCB | c.33+97C>T (n.33+97C>T) c.19+97C>T | gnomAD v4 |
| 4 | g.52038130G>C | CA2670614434 | SGCB | c.33+97C>G (n.33+97C>G) c.19+97C>G | gnomAD v4 |
| 4 | g.52038130G= | CA1457434099 | SGCB | c.33+97C= (n.33+97C=) c.19+97C= | |
| 4 | g.52038130G>T | CA2670614435 | SGCB | c.33+97C>A (n.33+97C>A) c.19+97C>A | gnomAD v4 |
| 4 | g.52038131C>A | CA2578086718 | SGCB | c.33+96G>T (n.33+96G>T) c.19+96G>T | gnomAD v4 |
| 4 | g.52038131C>T | CA2670614436 | SGCB | c.33+96G>A (n.33+96G>A) c.19+96G>A | gnomAD v4 |
| 4 | g.52038136dup | CA796086021 | SGCB | c.33+96dup (n.33+96dup) c.19+96dup | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038136del | CA2578086717 | SGCB | c.33+96del (n.33+96del) c.19+96del | gnomAD v4 |
| 4 | g.52038136_52038144dup | CA2670614437 | SGCB | c.33+88_33+96dup (n.33+88_33+96dup) c.19+88_19+96dup | gnomAD v4 |
| 4 | g.52038136_52038144del | CA2670614438 | SGCB | c.33+88_33+96del (n.33+88_33+96del) c.19+88_19+96del | gnomAD v4 |
| 4 | g.52038132C>A | CA2670614439 | SGCB | c.33+95G>T (n.33+95G>T) c.19+95G>T | gnomAD v4 |
| 4 | g.52038132C>T | CA2670614440 | SGCB | c.33+95G>A (n.33+95G>A) c.19+95G>A | gnomAD v4 |
| 4 | g.52038133C>A | CA1457434101 | SGCB | c.33+94G>T (n.33+94G>T) c.19+94G>T | dbSNP gnomAD v4 |
| 4 | g.52038133C= | CA1457434100 | SGCB | c.33+94G= (n.33+94G=) c.19+94G= | |
| 4 | g.52038133C>T | CA2670614441 | SGCB | c.33+94G>A (n.33+94G>A) c.19+94G>A | gnomAD v4 |
| 4 | g.52038134C>A | CA2670614444 | SGCB | c.33+93G>T (n.33+93G>T) c.19+93G>T | gnomAD v4 |
| 4 | g.52038134C>G | CA2670614443 | SGCB | c.33+93G>C (n.33+93G>C) c.19+93G>C | gnomAD v4 |
| 4 | g.52038134C>T | CA2670614442 | SGCB | c.33+93G>A (n.33+93G>A) c.19+93G>A | gnomAD v4 |
| 4 | g.52038135C= | CA1457434102 | SGCB | c.33+92G= (n.33+92G=) c.19+92G= | |
| 4 | g.52038135C>G | CA796086030 | SGCB | c.33+92G>C (n.33+92G>C) c.19+92G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038135C>T | CA1457434103 | SGCB | c.33+92G>A (n.33+92G>A) c.19+92G>A | dbSNP gnomAD v4 |
| 4 | g.52038136C>A | CA1062454348 | SGCB | c.33+91G>T (n.33+91G>T) c.19+91G>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038136C= | CA1457434104 | SGCB | c.33+91G= (n.33+91G=) c.19+91G= | |
| 4 | g.52038136C>G | CA2670614445 | SGCB | c.33+91G>C (n.33+91G>C) c.19+91G>C | gnomAD v4 |
| 4 | g.52038136C>T | CA2670614446 | SGCB | c.33+91G>A (n.33+91G>A) c.19+91G>A | gnomAD v4 |
| 4 | g.52038137del | CA2670614450 | SGCB | c.33+90del (n.33+90del) c.19+90del | gnomAD v4 |
| 4 | g.52038137G>A | CA551343882 | SGCB | c.33+90C>T (n.33+90C>T) c.19+90C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52038137G>C | CA2670614448 | SGCB | c.33+90C>G (n.33+90C>G) c.19+90C>G | gnomAD v4 |
| 4 | g.52038137G= | CA1457434105 | SGCB | c.33+90C= (n.33+90C=) c.19+90C= | |
| 4 | g.52038137G>T | CA2670614447 | SGCB | c.33+90C>A (n.33+90C>A) c.19+90C>A | 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.52038138C>A | CA2670614451 | SGCB | c.33+89G>T (n.33+89G>T) c.19+89G>T | gnomAD v4 |
| 4 | g.52038138C>T | CA2670614452 | SGCB | c.33+89G>A (n.33+89G>A) c.19+89G>A | gnomAD v4 |
| 4 | g.52038139A= | CA1457434106 | SGCB | c.33+88T= (n.33+88T=) c.19+88T= | |
| 4 | g.52038139A>C | CA1062454360 | SGCB | c.33+88T>G (n.33+88T>G) c.19+88T>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038139A>G | CA2670614453 | SGCB | c.33+88T>C (n.33+88T>C) c.19+88T>C | gnomAD v4 |
| 4 | g.52038140C>A | CA2670614455 | SGCB | c.33+87G>T (n.33+87G>T) c.19+87G>T | gnomAD v4 |
| 4 | g.52038140C= | CA1457434107 | SGCB | c.33+87G= (n.33+87G=) c.19+87G= | |
| 4 | g.52038140C>G | CA1457434108 | SGCB | c.33+87G>C (n.33+87G>C) c.19+87G>C | dbSNP |
| 4 | g.52038140C>T | CA551343883 | SGCB | c.33+87G>A (n.33+87G>A) c.19+87G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52038144dup | CA96791489 | SGCB | c.33+87dup (n.33+87dup) c.19+87dup | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52038144del | CA2670614454 | SGCB | c.33+87del (n.33+87del) c.19+87del | gnomAD v4 |
| 4 | g.52038141C>A | CA2670614456 | SGCB | c.33+86G>T (n.33+86G>T) c.19+86G>T | gnomAD v4 |
| 4 | g.52038141C>T | CA2578086719 | SGCB | c.33+86G>A (n.33+86G>A) c.19+86G>A | gnomAD v4 |
| 4 | g.52038142C>A | CA2670614457 | SGCB | c.33+85G>T (n.33+85G>T) c.19+85G>T | gnomAD v4 |
| 4 | g.52038142C>T | CA2670614458 | SGCB | c.33+85G>A (n.33+85G>A) c.19+85G>A | gnomAD v4 |
| 4 | g.52038143C>A | CA2670614459 | SGCB | c.33+84G>T (n.33+84G>T) c.19+84G>T | gnomAD v4 |
| 4 | g.52038143C>T | CA2761648131 | SGCB | c.33+84G>A (n.33+84G>A) c.19+84G>A | |
| 4 | g.52038144C>A | CA2670614460 | SGCB | c.33+83G>T (n.33+83G>T) c.19+83G>T | gnomAD v4 |
| 4 | g.52038144C= | CA1457434109 | SGCB | c.33+83G= (n.33+83G=) c.19+83G= | |
| 4 | g.52038144C>G | CA796086036 | SGCB | c.33+83G>C (n.33+83G>C) c.19+83G>C | dbSNP gnomAD v4 |
| 4 | g.52038144C>T | CA2670614461 | SGCB | c.33+83G>A (n.33+83G>A) c.19+83G>A | 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 |