Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17645848G>A | CA5906326 | OTOG | c.8682G>A (p.Leu2894=) c.8646G>A (p.Leu2882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17645848G>C | CA473301205 | OTOG | c.8682G>C (p.Leu2894=) c.8646G>C (p.Leu2882=) | |
11 | g.17645848G= | CA1955242341 | OTOG | c.8682G= (p.Leu2894=) c.8646G= (p.Leu2882=) | |
11 | g.17645848G>T | CA473301206 | OTOG | c.8682G>T (p.Leu2894=) c.8646G>T (p.Leu2882=) | gnomAD v4 |
11 | g.17645849C>A | CA379792556 | OTOG | c.8683C>A (p.Gln2895Lys) c.8647C>A (p.Gln2883Lys) | |
11 | g.17645849C>G | CA379792559 | OTOG | c.8683C>G (p.Gln2895Glu) c.8647C>G (p.Gln2883Glu) | |
11 | g.17645849C>T | CA379792561 | OTOG | c.8683C>T (p.Gln2895Ter) c.8647C>T (p.Gln2883Ter) | gnomAD v4 |
11 | g.17645850A>C | CA379792570 | OTOG | c.8684A>C (p.Gln2895Pro) c.8648A>C (p.Gln2883Pro) | |
11 | g.17645850A>G | CA379792574 | OTOG | c.8684A>G (p.Gln2895Arg) c.8648A>G (p.Gln2883Arg) | |
11 | g.17645850A>T | CA379792565 | OTOG | c.8684A>T (p.Gln2895Leu) c.8648A>T (p.Gln2883Leu) | |
11 | g.17645851G>A | CA473301207 | OTOG | c.8685G>A (p.Gln2895=) c.8649G>A (p.Gln2883=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17645851G>C | CA379792577 | OTOG | c.8685G>C (p.Gln2895His) c.8649G>C (p.Gln2883His) | |
11 | g.17645851G= | CA1955242342 | OTOG | c.8685G= (p.Gln2895=) c.8649G= (p.Gln2883=) | |
11 | g.17645851G>T | CA379792589 | OTOG | c.8685G>T (p.Gln2895His) c.8649G>T (p.Gln2883His) | |
11 | g.17645852C>A | CA473301208 | OTOG | c.8686C>A (p.Arg2896=) c.8650C>A (p.Arg2884=) | dbSNP |
11 | g.17645852C= | CA1955242343 | OTOG | c.8686C= (p.Arg2896=) c.8650C= (p.Arg2884=) | |
11 | g.17645852C>G | CA379792593 | OTOG | c.8686C>G (p.Arg2896Gly) c.8650C>G (p.Arg2884Gly) | |
11 | g.17645852C>T | CA5906327 | OTOG | c.8686C>T (p.Arg2896Trp) c.8650C>T (p.Arg2884Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17645853G>A | CA5906328 | OTOG | c.8687G>A (p.Arg2896Gln) c.8651G>A (p.Arg2884Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17645853G>C | CA379792609 | OTOG | c.8687G>C (p.Arg2896Pro) c.8651G>C (p.Arg2884Pro) | |
11 | g.17645853G= | CA1955242344 | OTOG | c.8687G= (p.Arg2896=) c.8651G= (p.Arg2884=) | |
11 | g.17645853G>T | CA379792605 | OTOG | c.8687G>T (p.Arg2896Leu) c.8651G>T (p.Arg2884Leu) | |
11 | g.17645854G>A | CA473301210 | OTOG | c.8688G>A (p.Arg2896=) c.8652G>A (p.Arg2884=) | gnomAD v4 |
11 | g.17645854G>C | CA473301211 | OTOG | c.8688G>C (p.Arg2896=) c.8652G>C (p.Arg2884=) | |
11 | g.17645854G>T | CA473301209 | OTOG | c.8688G>T (p.Arg2896=) c.8652G>T (p.Arg2884=) | |
11 | g.17645855C>A | CA379792624 | OTOG | c.8689C>A (p.Arg2897Ser) c.8653C>A (p.Arg2885Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17645855C= | CA1955242345 | OTOG | c.8689C= (p.Arg2897=) c.8653C= (p.Arg2885=) | |
11 | g.17645855C>G | CA379792630 | OTOG | c.8689C>G (p.Arg2897Gly) c.8653C>G (p.Arg2885Gly) | |
11 | g.17645855C>T | CA5906329 | OTOG | c.8689C>T (p.Arg2897Cys) c.8653C>T (p.Arg2885Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17645856G>A | CA5906330 | OTOG | c.8690G>A (p.Arg2897His) c.8654G>A (p.Arg2885His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17645856G>C | CA379792644 | OTOG | c.8690G>C (p.Arg2897Pro) c.8654G>C (p.Arg2885Pro) | |
11 | g.17645856G= | CA1955242346 | OTOG | c.8690G= (p.Arg2897=) c.8654G= (p.Arg2885=) | |
11 | g.17645856G>T | CA379792649 | OTOG | c.8690G>T (p.Arg2897Leu) c.8654G>T (p.Arg2885Leu) | |
11 | g.17645857C>A | CA473301213 | OTOG | c.8691C>A (p.Arg2897=) c.8655C>A (p.Arg2885=) | |
11 | g.17645857C>G | CA473301214 | OTOG | c.8691C>G (p.Arg2897=) c.8655C>G (p.Arg2885=) | |
11 | g.17645857C>T | CA473301215 | OTOG | c.8691C>T (p.Arg2897=) c.8655C>T (p.Arg2885=) | gnomAD v4 |
11 | g.17645858T>A | CA379792652 | OTOG | c.8692T>A (p.Ser2898Thr) c.8656T>A (p.Ser2886Thr) | |
11 | g.17645858T>C | CA379792660 | OTOG | c.8692T>C (p.Ser2898Pro) c.8656T>C (p.Ser2886Pro) | |
11 | g.17645858T>G | CA379792654 | OTOG | c.8692T>G (p.Ser2898Ala) c.8656T>G (p.Ser2886Ala) | |
11 | g.17645865_17645877del | CA2612692783 | OTOG | c.8699_8711del (p.Gln2900ProfsTer?) c.8663_8675del (p.Gln2888ProfsTer?) | gnomAD v4 |
11 | g.17645859C>A | CA379792667 | OTOG | c.8693C>A (p.Ser2898Tyr) c.8657C>A (p.Ser2886Tyr) | |
11 | g.17645859C>G | CA379792673 | OTOG | c.8693C>G (p.Ser2898Cys) c.8657C>G (p.Ser2886Cys) | |
11 | g.17645859C>T | CA379792671 | OTOG | c.8693C>T (p.Ser2898Phe) c.8657C>T (p.Ser2886Phe) | |
11 | g.17645860T>A | CA473301216 | OTOG | c.8694T>A (p.Ser2898=) c.8658T>A (p.Ser2886=) | |
11 | g.17645860T>C | CA473301218 | OTOG | c.8694T>C (p.Ser2898=) c.8658T>C (p.Ser2886=) | dbSNP gnomAD v4 |
11 | g.17645860T>G | CA473301219 | OTOG | c.8694T>G (p.Ser2898=) c.8658T>G (p.Ser2886=) | |
11 | g.17645860T= | CA1955242347 | OTOG | c.8694T= (p.Ser2898=) c.8658T= (p.Ser2886=) | |
11 | g.17645861G>A | CA379792679 | OTOG | c.8695G>A (p.Val2899Met) c.8659G>A (p.Val2887Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17645861G>C | CA379792683 | OTOG | c.8695G>C (p.Val2899Leu) c.8659G>C (p.Val2887Leu) | |
11 | g.17645861G= | CA1955242348 | OTOG | c.8695G= (p.Val2899=) c.8659G= (p.Val2887=) |