Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26484476del | CA2658239967 | OTOF | c.1205+1del c.1250+1del | gnomAD v4 |
2 | g.26484475C>A | CA346137618 | OTOF | c.1204G>T (p.Gly402Trp) c.1249G>T (p.Gly417Trp) | |
2 | g.26484475C>G | CA346137619 | OTOF | c.1204G>C (p.Gly402Arg) c.1249G>C (p.Gly417Arg) | |
2 | g.26484475C>T | CA346137621 | OTOF | c.1204G>A (p.Gly402Arg) c.1249G>A (p.Gly417Arg) | gnomAD v4 |
2 | g.26484476C>A | CA346137624 | OTOF | c.1203G>T (p.Glu401Asp) c.1248G>T (p.Glu416Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484476C= | CA1239831202 | OTOF | c.1203G= (p.Glu401=) c.1248G= (p.Glu416=) | |
2 | g.26484476C>G | CA346137625 | OTOF | c.1203G>C (p.Glu401Asp) c.1248G>C (p.Glu416Asp) | |
2 | g.26484476C>T | CA425207319 | OTOF | c.1203G>A (p.Glu401=) c.1248G>A (p.Glu416=) | |
2 | g.26484477T>A | CA346137628 | OTOF | c.1202A>T (p.Glu401Val) c.1247A>T (p.Glu416Val) | |
2 | g.26484477T>C | CA346137632 | OTOF | c.1202A>G (p.Glu401Gly) c.1247A>G (p.Glu416Gly) | gnomAD v4 |
2 | g.26484477T>G | CA346137634 | OTOF | c.1202A>C (p.Glu401Ala) c.1247A>C (p.Glu416Ala) | |
2 | g.26484478C>A | CA346137636 | OTOF | c.1201G>T (p.Glu401Ter) c.1246G>T (p.Glu416Ter) | |
2 | g.26484478C>G | CA346137638 | OTOF | c.1201G>C (p.Glu401Gln) c.1246G>C (p.Glu416Gln) | gnomAD v4 |
2 | g.26484478C>T | CA346137639 | OTOF | c.1201G>A (p.Glu401Lys) c.1246G>A (p.Glu416Lys) | |
2 | g.26484479A>C | CA346137641 | OTOF | c.1200T>G (p.Ile400Met) c.1245T>G (p.Ile415Met) | |
2 | g.26484479A>G | CA425207321 | OTOF | c.1200T>C (p.Ile400=) c.1245T>C (p.Ile415=) | |
2 | g.26484479A>T | CA425207320 | OTOF | c.1200T>A (p.Ile400=) c.1245T>A (p.Ile415=) | |
2 | g.26484480A= | CA1239831206 | OTOF | c.1199T= (p.Ile400=) c.1244T= (p.Ile415=) | |
2 | g.26484480A>C | CA346137642 | OTOF | c.1199T>G (p.Ile400Ser) c.1244T>G (p.Ile415Ser) | |
2 | g.26484480A>G | CA1564358 | OTOF | c.1199T>C (p.Ile400Thr) c.1244T>C (p.Ile415Thr) | dbSNP ExAC gnomAD v4 |
2 | g.26484480A>T | CA346137646 | OTOF | c.1199T>A (p.Ile400Asn) c.1244T>A (p.Ile415Asn) | |
2 | g.26484481T>A | CA346137649 | OTOF | c.1198A>T (p.Ile400Phe) c.1243A>T (p.Ile415Phe) | |
2 | g.26484481T>C | CA1564359 | OTOF | c.1198A>G (p.Ile400Val) c.1243A>G (p.Ile415Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484481T>G | CA346137653 | OTOF | c.1198A>C (p.Ile400Leu) c.1243A>C (p.Ile415Leu) | |
2 | g.26484481T= | CA1239831213 | OTOF | c.1198A= (p.Ile400=) c.1243A= (p.Ile415=) | |
2 | g.26484482G>A | CA425207322 | OTOF | c.1197C>T (p.Asp399=) c.1242C>T (p.Asp414=) | |
2 | g.26484482G>C | CA346137657 | OTOF | c.1197C>G (p.Asp399Glu) c.1242C>G (p.Asp414Glu) | |
2 | g.26484482G>T | CA346137659 | OTOF | c.1197C>A (p.Asp399Glu) c.1242C>A (p.Asp414Glu) | |
2 | g.26484483T>A | CA346137662 | OTOF | c.1196A>T (p.Asp399Val) c.1241A>T (p.Asp414Val) | |
2 | g.26484483T>C | CA346137667 | OTOF | c.1196A>G (p.Asp399Gly) c.1241A>G (p.Asp414Gly) | |
2 | g.26484483T>G | CA346137664 | OTOF | c.1196A>C (p.Asp399Ala) c.1241A>C (p.Asp414Ala) | |
2 | g.26484484C>A | CA346137669 | OTOF | c.1195G>T (p.Asp399Tyr) c.1240G>T (p.Asp414Tyr) | gnomAD v4 |
2 | g.26484484C>G | CA346137673 | OTOF | c.1195G>C (p.Asp399His) c.1240G>C (p.Asp414His) | |
2 | g.26484484C>T | CA346137672 | OTOF | c.1195G>A (p.Asp399Asn) c.1240G>A (p.Asp414Asn) | |
2 | g.26484485A= | CA1239831217 | OTOF | c.1194T= (p.Asp398=) c.1239T= (p.Asp413=) | |
2 | g.26484485A>C | CA346137674 | OTOF | c.1194T>G (p.Asp398Glu) c.1239T>G (p.Asp413Glu) | |
2 | g.26484485A>G | CA425207323 | OTOF | c.1194T>C (p.Asp398=) c.1239T>C (p.Asp413=) | |
2 | g.26484485A>T | CA142734 | OTOF | c.1194T>A (p.Asp398Glu) c.1239T>A (p.Asp413Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484486T>A | CA346137675 | OTOF | c.1193A>T (p.Asp398Val) c.1238A>T (p.Asp413Val) | |
2 | g.26484486T>C | CA346137676 | OTOF | c.1193A>G (p.Asp398Gly) c.1238A>G (p.Asp413Gly) | |
2 | g.26484486T>G | CA346137677 | OTOF | c.1193A>C (p.Asp398Ala) c.1238A>C (p.Asp413Ala) | |
2 | g.26484487C>A | CA346137678 | OTOF | c.1192G>T (p.Asp398Tyr) c.1237G>T (p.Asp413Tyr) | |
2 | g.26484487C= | CA1239831221 | OTOF | c.1192G= (p.Asp398=) c.1237G= (p.Asp413=) | |
2 | g.26484487C>G | CA346137679 | OTOF | c.1192G>C (p.Asp398His) c.1237G>C (p.Asp413His) | |
2 | g.26484487C>T | CA346137680 | OTOF | c.1192G>A (p.Asp398Asn) c.1237G>A (p.Asp413Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484488T>A | CA346137681 | OTOF | c.1191A>T (p.Glu397Asp) c.1236A>T (p.Glu412Asp) | |
2 | g.26484488T>C | CA425207324 | OTOF | c.1191A>G (p.Glu397=) c.1236A>G (p.Glu412=) | |
2 | g.26484488T>G | CA346137682 | OTOF | c.1191A>C (p.Glu397Asp) c.1236A>C (p.Glu412Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484488T= | CA1239831224 | OTOF | c.1191A= (p.Glu397=) c.1236A= (p.Glu412=) | |
2 | g.26484489T>A | CA346137683 | OTOF | c.1190A>T (p.Glu397Val) c.1235A>T (p.Glu412Val) |