| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26483623dup | CA1564330 | OTOF | c.1236dup (p.Glu413ArgfsTer?) c.1281dup (p.Glu428ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26483622_26483623dup | CA2749240847 | OTOF | c.1235_1236dup (p.Glu413ProfsTer10) c.1280_1281dup (p.Glu428ProfsTer10) | |
| 2 | g.26483623del | CA345086 | OTOF | c.1236del (p.Glu413AsnfsTer9) c.1281del (p.Glu428AsnfsTer9) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.26483623G>A | CA1564332 | OTOF | c.1231C>T (p.Pro411Ser) c.1276C>T (p.Pro426Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26483623G>C | CA346137053 | OTOF | c.1231C>G (p.Pro411Ala) c.1276C>G (p.Pro426Ala) | gnomAD v4 |
| 2 | g.26483623G= | CA1239830466 | OTOF | c.1231C= (p.Pro411=) c.1276C= (p.Pro426=) | |
| 2 | g.26483623G>T | CA346137056 | OTOF | c.1231C>A (p.Pro411Thr) c.1276C>A (p.Pro426Thr) | |
| 2 | g.26483624C>A | CA425207195 | OTOF | c.1230G>T (p.Val410=) c.1275G>T (p.Val425=) | dbSNP gnomAD v2 |
| 2 | g.26483624C= | CA1239830468 | OTOF | c.1230G= (p.Val410=) c.1275G= (p.Val425=) | |
| 2 | g.26483624C>G | CA425207196 | OTOF | c.1230G>C (p.Val410=) c.1275G>C (p.Val425=) | |
| 2 | g.26483624C>T | CA425207197 | OTOF | c.1230G>A (p.Val410=) c.1275G>A (p.Val425=) | |
| 2 | g.26483625A= | CA1239830470 | OTOF | c.1229T= (p.Val410=) c.1274T= (p.Val425=) | |
| 2 | g.26483625A>C | CA346137058 | OTOF | c.1229T>G (p.Val410Gly) c.1274T>G (p.Val425Gly) | dbSNP |
| 2 | g.26483625A>G | CA346137060 | OTOF | c.1229T>C (p.Val410Ala) c.1274T>C (p.Val425Ala) | |
| 2 | g.26483625A>T | CA346137062 | OTOF | c.1229T>A (p.Val410Glu) c.1274T>A (p.Val425Glu) | |
| 2 | g.26483626C>A | CA346137070 | OTOF | c.1228G>T (p.Val410Leu) c.1273G>T (p.Val425Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26483626C= | CA1239830473 | OTOF | c.1228G= (p.Val410=) c.1273G= (p.Val425=) | |
| 2 | g.26483626C>G | CA1564333 | OTOF | c.1228G>C (p.Val410Leu) c.1273G>C (p.Val425Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26483626C>T | CA346137067 | OTOF | c.1228G>A (p.Val410Met) c.1273G>A (p.Val425Met) | gnomAD v4 |
| 2 | g.26483627C>A | CA425207198 | OTOF | c.1227G>T (p.Gly409=) c.1272G>T (p.Gly424=) | |
| 2 | g.26483627C= | CA1239830476 | OTOF | c.1227G= (p.Gly409=) c.1272G= (p.Gly424=) | |
| 2 | g.26483627C>G | CA10615100 | OTOF | c.1227G>C (p.Gly409=) c.1272G>C (p.Gly424=) | ClinVar dbSNP |
| 2 | g.26483627C>T | CA425207199 | OTOF | c.1227G>A (p.Gly409=) c.1272G>A (p.Gly424=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26483628C>A | CA346137077 | OTOF | c.1226G>T (p.Gly409Val) c.1271G>T (p.Gly424Val) | |
| 2 | g.26483628C>G | CA346137079 | OTOF | c.1226G>C (p.Gly409Ala) c.1271G>C (p.Gly424Ala) | |
| 2 | g.26483628C>T | CA346137082 | OTOF | c.1226G>A (p.Gly409Glu) c.1271G>A (p.Gly424Glu) | |
| 2 | g.26483629C>A | CA346137085 | OTOF | c.1225G>T (p.Gly409Trp) c.1270G>T (p.Gly424Trp) | |
| 2 | g.26483629C>G | CA346137087 | OTOF | c.1225G>C (p.Gly409Arg) c.1270G>C (p.Gly424Arg) | |
| 2 | g.26483629C>T | CA346137090 | OTOF | c.1225G>A (p.Gly409Arg) c.1270G>A (p.Gly424Arg) | COSMIC |
| 2 | g.26483630C>A | CA346137094 | OTOF | c.1224G>T (p.Glu408Asp) c.1269G>T (p.Glu423Asp) | |
| 2 | g.26483630C>G | CA346137096 | OTOF | c.1224G>C (p.Glu408Asp) c.1269G>C (p.Glu423Asp) | gnomAD v4 |
| 2 | g.26483630C>T | CA425207200 | OTOF | c.1224G>A (p.Glu408=) c.1269G>A (p.Glu423=) | gnomAD v4 |
| 2 | g.26483631T>A | CA346137099 | OTOF | c.1223A>T (p.Glu408Val) c.1268A>T (p.Glu423Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26483631T>C | CA346137101 | OTOF | c.1223A>G (p.Glu408Gly) c.1268A>G (p.Glu423Gly) | |
| 2 | g.26483631T>G | CA346137104 | OTOF | c.1223A>C (p.Glu408Ala) c.1268A>C (p.Glu423Ala) | |
| 2 | g.26483631T= | CA1239830478 | OTOF | c.1223A= (p.Glu408=) c.1268A= (p.Glu423=) | |
| 2 | g.26483632C>A | CA346137114 | OTOF | c.1222G>T (p.Glu408Ter) c.1267G>T (p.Glu423Ter) | |
| 2 | g.26483632C= | CA1239830479 | OTOF | c.1222G= (p.Glu408=) c.1267G= (p.Glu423=) | |
| 2 | g.26483632C>G | CA346137111 | OTOF | c.1222G>C (p.Glu408Gln) c.1267G>C (p.Glu423Gln) | gnomAD v4 |
| 2 | g.26483632C>T | CA1564334 | OTOF | c.1222G>A (p.Glu408Lys) c.1267G>A (p.Glu423Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26483632_26483633delinsCG | CA1239830481 | OTOF | c.1221_1222delinsCG (p.Pro407=) c.1266_1267delinsCG (p.Pro422=) | |
| 2 | g.26483633G>A | CA183969 | OTOF | c.1221C>T (p.Pro407=) c.1266C>T (p.Pro422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26483633G>C | CA425207201 | OTOF | c.1221C>G (p.Pro407=) c.1266C>G (p.Pro422=) | |
| 2 | g.26483633G= | CA1239830483 | OTOF | c.1221C= (p.Pro407=) c.1266C= (p.Pro422=) | |
| 2 | g.26483633G>T | CA425207202 | OTOF | c.1221C>A (p.Pro407=) c.1266C>A (p.Pro422=) | |
| 2 | g.26483636del | CA916496232 | OTOF | c.1221del (p.Glu408ArgfsTer14) c.1266del (p.Glu423ArgfsTer14) | dbSNP |
| 2 | g.26483634G>A | CA346137120 | OTOF | c.1220C>T (p.Pro407Leu) c.1265C>T (p.Pro422Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26483634G>C | CA346137124 | OTOF | c.1220C>G (p.Pro407Arg) c.1265C>G (p.Pro422Arg) | |
| 2 | g.26483634G= | CA1239830485 | OTOF | c.1220C= (p.Pro407=) c.1265C= (p.Pro422=) | |
| 2 | g.26483634G>T | CA346137126 | OTOF | c.1220C>A (p.Pro407His) c.1265C>A (p.Pro422His) |