Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.52038118_52038177del | CA2670614400 | SGCB | c.33+53_33+112del (n.33+53_33+112del) c.19+53_19+112del | 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.52038124_52038133delinsGCCCGCGCCC | CA1457434094 | SGCB | c.33+94_33+103delinsGGGCGCGGGC (n.33+94_33+103delinsGGGCGCGGGC) c.19+94_19+103delinsGGGCGCGGGC | |
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.52038130_52038131del | CA2670614426 | SGCB | c.33+99_33+100del (n.33+99_33+100del) c.19+99_19+100del | 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 |