| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 2 | g.26484489T>C | CA346137684 | OTOF | c.1190A>G (p.Glu397Gly) c.1235A>G (p.Glu412Gly) | |
| 2 | g.26484489T>G | CA346137685 | OTOF | c.1190A>C (p.Glu397Ala) c.1235A>C (p.Glu412Ala) | |
| 2 | g.26484490C>A | CA346137688 | OTOF | c.1189G>T (p.Glu397Ter) c.1234G>T (p.Glu412Ter) | |
| 2 | g.26484490C= | CA1239831228 | OTOF | c.1189G= (p.Glu397=) c.1234G= (p.Glu412=) | |
| 2 | g.26484490C>G | CA346137687 | OTOF | c.1189G>C (p.Glu397Gln) c.1234G>C (p.Glu412Gln) | |
| 2 | g.26484490C>T | CA346137686 | OTOF | c.1189G>A (p.Glu397Lys) c.1234G>A (p.Glu412Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26484491G>A | CA1564360 | OTOF | c.1188C>T (p.Asp396=) c.1233C>T (p.Asp411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26484491G>C | CA346137689 | OTOF | c.1188C>G (p.Asp396Glu) c.1233C>G (p.Asp411Glu) | |
| 2 | g.26484491G= | CA1239831231 | OTOF | c.1188C= (p.Asp396=) c.1233C= (p.Asp411=) | |
| 2 | g.26484491G>T | CA346137690 | OTOF | c.1188C>A (p.Asp396Glu) c.1233C>A (p.Asp411Glu) | dbSNP gnomAD v4 |
| 2 | g.26484492T>A | CA346137691 | OTOF | c.1187A>T (p.Asp396Val) c.1232A>T (p.Asp411Val) | |
| 2 | g.26484492T>C | CA346137692 | OTOF | c.1187A>G (p.Asp396Gly) c.1232A>G (p.Asp411Gly) | |
| 2 | g.26484492T>G | CA346137693 | OTOF | c.1187A>C (p.Asp396Ala) c.1232A>C (p.Asp411Ala) | |
| 2 | g.26484493C>A | CA346137694 | OTOF | c.1186G>T (p.Asp396Tyr) c.1231G>T (p.Asp411Tyr) | |
| 2 | g.26484493C= | CA1239831234 | OTOF | c.1186G= (p.Asp396=) c.1231G= (p.Asp411=) | |
| 2 | g.26484493C>G | CA346137695 | OTOF | c.1186G>C (p.Asp396His) c.1231G>C (p.Asp411His) | |
| 2 | g.26484493C>T | CA1564361 | OTOF | c.1186G>A (p.Asp396Asn) c.1231G>A (p.Asp411Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26484494G>A | CA142732 | OTOF | c.1185C>T (p.Thr395=) c.1230C>T (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26484494G>C | CA425207325 | OTOF | c.1185C>G (p.Thr395=) c.1230C>G (p.Thr410=) | |
| 2 | g.26484494G= | CA1239831241 | OTOF | c.1185C= (p.Thr395=) c.1230C= (p.Thr410=) | |
| 2 | g.26484494G>T | CA1564362 | OTOF | c.1185C>A (p.Thr395=) c.1230C>A (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26484495G>A | CA346137698 | OTOF | c.1184C>T (p.Thr395Ile) c.1229C>T (p.Thr410Ile) | |
| 2 | g.26484495G>C | CA346137697 | OTOF | c.1184C>G (p.Thr395Ser) c.1229C>G (p.Thr410Ser) | gnomAD v4 |
| 2 | g.26484495G>T | CA346137696 | OTOF | c.1184C>A (p.Thr395Asn) c.1229C>A (p.Thr410Asn) | COSMIC |
| 2 | g.26484496T>A | CA346137699 | OTOF | c.1183A>T (p.Thr395Ser) c.1228A>T (p.Thr410Ser) | |
| 2 | g.26484496T>C | CA346137700 | OTOF | c.1183A>G (p.Thr395Ala) c.1228A>G (p.Thr410Ala) | |
| 2 | g.26484496T>G | CA346137701 | OTOF | c.1183A>C (p.Thr395Pro) c.1228A>C (p.Thr410Pro) | |
| 2 | g.26484497C>A | CA346137702 | OTOF | c.1182G>T (p.Glu394Asp) c.1227G>T (p.Glu409Asp) | |
| 2 | g.26484497C>G | CA346137703 | OTOF | c.1182G>C (p.Glu394Asp) c.1227G>C (p.Glu409Asp) | |
| 2 | g.26484497C>T | CA425207326 | OTOF | c.1182G>A (p.Glu394=) c.1227G>A (p.Glu409=) | gnomAD v4 |
| 2 | g.26484498T>A | CA346137704 | OTOF | c.1181A>T (p.Glu394Val) c.1226A>T (p.Glu409Val) | |
| 2 | g.26484498T>C | CA346137705 | OTOF | c.1181A>G (p.Glu394Gly) c.1226A>G (p.Glu409Gly) | |
| 2 | g.26484498T>G | CA1564363 | OTOF | c.1181A>C (p.Glu394Ala) c.1226A>C (p.Glu409Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26484498T= | CA1239831249 | OTOF | c.1181A= (p.Glu394=) c.1226A= (p.Glu409=) |