| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77211314G>A | CA132426 | MYO7A | c.6214G>A (p.Val2072Ile) c.4015G>A c.6067G>A (p.Val2023Ile) c.3640G>A (p.Val1214Ile) c.6100G>A (p.Val2034Ile) n.3750G>A n.25+403G>A n.1681G>A c.6097G>A (p.Val2033Ile) c.6205G>A (p.Val2069Ile) c.6208G>A (p.Val2070Ile) c.6181G>A (p.Val2061Ile) c.6118G>A (p.Val2040Ile) c.5989G>A (p.Val1997Ile) c.5977G>A (p.Val1993Ile) c.5950G>A (p.Val1984Ile) n.6534G>A n.6508G>A c.6304G>A (p.Val2102Ile) c.6298G>A (p.Val2100Ile) c.6295G>A (p.Val2099Ile) c.6190G>A (p.Val2064Ile) c.6187G>A (p.Val2063Ile) n.6293G>A n.6279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77211314G>C | CA381936255 | MYO7A | c.6214G>C (p.Val2072Leu) c.4015G>C c.6067G>C (p.Val2023Leu) c.3640G>C (p.Val1214Leu) c.6100G>C (p.Val2034Leu) n.3750G>C n.25+403G>C n.1681G>C c.6097G>C (p.Val2033Leu) c.6205G>C (p.Val2069Leu) c.6208G>C (p.Val2070Leu) c.6181G>C (p.Val2061Leu) c.6118G>C (p.Val2040Leu) c.5989G>C (p.Val1997Leu) c.5977G>C (p.Val1993Leu) c.5950G>C (p.Val1984Leu) n.6534G>C n.6508G>C c.6304G>C (p.Val2102Leu) c.6298G>C (p.Val2100Leu) c.6295G>C (p.Val2099Leu) c.6190G>C (p.Val2064Leu) c.6187G>C (p.Val2063Leu) n.6293G>C n.6279G>C | |
| 11 | g.77211314G= | CA1984129908 | MYO7A | c.6214G= (p.Val2072=) c.4015G= c.6067G= (p.Val2023=) c.3640G= (p.Val1214=) c.6100G= (p.Val2034=) n.3750G= n.25+403G= n.1681G= c.6097G= (p.Val2033=) c.6205G= (p.Val2069=) c.6208G= (p.Val2070=) c.6181G= (p.Val2061=) c.6118G= (p.Val2040=) c.5989G= (p.Val1997=) c.5977G= (p.Val1993=) c.5950G= (p.Val1984=) n.6534G= n.6508G= c.6304G= (p.Val2102=) c.6298G= (p.Val2100=) c.6295G= (p.Val2099=) c.6190G= (p.Val2064=) c.6187G= (p.Val2063=) n.6293G= n.6279G= | |
| 11 | g.77211314G>T | CA381936254 | MYO7A | c.6214G>T (p.Val2072Phe) c.4015G>T c.6067G>T (p.Val2023Phe) c.3640G>T (p.Val1214Phe) c.6100G>T (p.Val2034Phe) n.3750G>T n.25+403G>T n.1681G>T c.6097G>T (p.Val2033Phe) c.6205G>T (p.Val2069Phe) c.6208G>T (p.Val2070Phe) c.6181G>T (p.Val2061Phe) c.6118G>T (p.Val2040Phe) c.5989G>T (p.Val1997Phe) c.5977G>T (p.Val1993Phe) c.5950G>T (p.Val1984Phe) n.6534G>T n.6508G>T c.6304G>T (p.Val2102Phe) c.6298G>T (p.Val2100Phe) c.6295G>T (p.Val2099Phe) c.6190G>T (p.Val2064Phe) c.6187G>T (p.Val2063Phe) n.6293G>T n.6279G>T | dbSNP gnomAD v4 |
| 11 | g.77211315T>A | CA381936259 | MYO7A | c.6215T>A (p.Val2072Asp) c.4016T>A c.6068T>A (p.Val2023Asp) c.3641T>A (p.Val1214Asp) c.6101T>A (p.Val2034Asp) n.3751T>A n.25+404T>A n.1682T>A c.6098T>A (p.Val2033Asp) c.6206T>A (p.Val2069Asp) c.6209T>A (p.Val2070Asp) c.6182T>A (p.Val2061Asp) c.6119T>A (p.Val2040Asp) c.5990T>A (p.Val1997Asp) c.5978T>A (p.Val1993Asp) c.5951T>A (p.Val1984Asp) n.6535T>A n.6509T>A c.6305T>A (p.Val2102Asp) c.6299T>A (p.Val2100Asp) c.6296T>A (p.Val2099Asp) c.6191T>A (p.Val2064Asp) c.6188T>A (p.Val2063Asp) n.6294T>A n.6280T>A | |
| 11 | g.77211315T>C | CA381936260 | MYO7A | c.6215T>C (p.Val2072Ala) c.4016T>C c.6068T>C (p.Val2023Ala) c.3641T>C (p.Val1214Ala) c.6101T>C (p.Val2034Ala) n.3751T>C n.25+404T>C n.1682T>C c.6098T>C (p.Val2033Ala) c.6206T>C (p.Val2069Ala) c.6209T>C (p.Val2070Ala) c.6182T>C (p.Val2061Ala) c.6119T>C (p.Val2040Ala) c.5990T>C (p.Val1997Ala) c.5978T>C (p.Val1993Ala) c.5951T>C (p.Val1984Ala) n.6535T>C n.6509T>C c.6305T>C (p.Val2102Ala) c.6299T>C (p.Val2100Ala) c.6296T>C (p.Val2099Ala) c.6191T>C (p.Val2064Ala) c.6188T>C (p.Val2063Ala) n.6294T>C n.6280T>C | |
| 11 | g.77211315T>G | CA381936263 | MYO7A | c.6215T>G (p.Val2072Gly) c.4016T>G c.6068T>G (p.Val2023Gly) c.3641T>G (p.Val1214Gly) c.6101T>G (p.Val2034Gly) n.3751T>G n.25+404T>G n.1682T>G c.6098T>G (p.Val2033Gly) c.6206T>G (p.Val2069Gly) c.6209T>G (p.Val2070Gly) c.6182T>G (p.Val2061Gly) c.6119T>G (p.Val2040Gly) c.5990T>G (p.Val1997Gly) c.5978T>G (p.Val1993Gly) c.5951T>G (p.Val1984Gly) n.6535T>G n.6509T>G c.6305T>G (p.Val2102Gly) c.6299T>G (p.Val2100Gly) c.6296T>G (p.Val2099Gly) c.6191T>G (p.Val2064Gly) c.6188T>G (p.Val2063Gly) n.6294T>G n.6280T>G | dbSNP |
| 11 | g.77211315T= | CA1984129909 | MYO7A | c.6215T= (p.Val2072=) c.4016T= c.6068T= (p.Val2023=) c.3641T= (p.Val1214=) c.6101T= (p.Val2034=) n.3751T= n.25+404T= n.1682T= c.6098T= (p.Val2033=) c.6206T= (p.Val2069=) c.6209T= (p.Val2070=) c.6182T= (p.Val2061=) c.6119T= (p.Val2040=) c.5990T= (p.Val1997=) c.5978T= (p.Val1993=) c.5951T= (p.Val1984=) n.6535T= n.6509T= c.6305T= (p.Val2102=) c.6299T= (p.Val2100=) c.6296T= (p.Val2099=) c.6191T= (p.Val2064=) c.6188T= (p.Val2063=) n.6294T= n.6280T= | |
| 11 | g.77211316C>A | CA475792061 | MYO7A | c.6216C>A (p.Val2072=) c.4017C>A c.6069C>A (p.Val2023=) c.3642C>A (p.Val1214=) c.6102C>A (p.Val2034=) n.3752C>A n.25+405C>A n.1683C>A c.6099C>A (p.Val2033=) c.6207C>A (p.Val2069=) c.6210C>A (p.Val2070=) c.6183C>A (p.Val2061=) c.6120C>A (p.Val2040=) c.5991C>A (p.Val1997=) c.5979C>A (p.Val1993=) c.5952C>A (p.Val1984=) n.6536C>A n.6510C>A c.6306C>A (p.Val2102=) c.6300C>A (p.Val2100=) c.6297C>A (p.Val2099=) c.6192C>A (p.Val2064=) c.6189C>A (p.Val2063=) n.6295C>A n.6281C>A | gnomAD v4 |
| 11 | g.77211316C= | CA1984129910 | MYO7A | c.6216C= (p.Val2072=) c.4017C= c.6069C= (p.Val2023=) c.3642C= (p.Val1214=) c.6102C= (p.Val2034=) n.3752C= n.25+405C= n.1683C= c.6099C= (p.Val2033=) c.6207C= (p.Val2069=) c.6210C= (p.Val2070=) c.6183C= (p.Val2061=) c.6120C= (p.Val2040=) c.5991C= (p.Val1997=) c.5979C= (p.Val1993=) c.5952C= (p.Val1984=) n.6536C= n.6510C= c.6306C= (p.Val2102=) c.6300C= (p.Val2100=) c.6297C= (p.Val2099=) c.6192C= (p.Val2064=) c.6189C= (p.Val2063=) n.6295C= n.6281C= | |
| 11 | g.77211316C>G | CA475792060 | MYO7A | c.6216C>G (p.Val2072=) c.4017C>G c.6069C>G (p.Val2023=) c.3642C>G (p.Val1214=) c.6102C>G (p.Val2034=) n.3752C>G n.25+405C>G n.1683C>G c.6099C>G (p.Val2033=) c.6207C>G (p.Val2069=) c.6210C>G (p.Val2070=) c.6183C>G (p.Val2061=) c.6120C>G (p.Val2040=) c.5991C>G (p.Val1997=) c.5979C>G (p.Val1993=) c.5952C>G (p.Val1984=) n.6536C>G n.6510C>G c.6306C>G (p.Val2102=) c.6300C>G (p.Val2100=) c.6297C>G (p.Val2099=) c.6192C>G (p.Val2064=) c.6189C>G (p.Val2063=) n.6295C>G n.6281C>G | |
| 11 | g.77211316C>T | CA475792059 | MYO7A | c.6216C>T (p.Val2072=) c.4017C>T c.6069C>T (p.Val2023=) c.3642C>T (p.Val1214=) c.6102C>T (p.Val2034=) n.3752C>T n.25+405C>T n.1683C>T c.6099C>T (p.Val2033=) c.6207C>T (p.Val2069=) c.6210C>T (p.Val2070=) c.6183C>T (p.Val2061=) c.6120C>T (p.Val2040=) c.5991C>T (p.Val1997=) c.5979C>T (p.Val1993=) c.5952C>T (p.Val1984=) n.6536C>T n.6510C>T c.6306C>T (p.Val2102=) c.6300C>T (p.Val2100=) c.6297C>T (p.Val2099=) c.6192C>T (p.Val2064=) c.6189C>T (p.Val2063=) n.6295C>T n.6281C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77211317T>A | CA381936267 | MYO7A | c.6217T>A (p.Ser2073Thr) c.4018T>A c.6070T>A (p.Ser2024Thr) c.3643T>A (p.Ser1215Thr) c.6103T>A (p.Ser2035Thr) n.3753T>A n.25+406T>A n.1684T>A c.6100T>A (p.Ser2034Thr) c.6208T>A (p.Ser2070Thr) c.6211T>A (p.Ser2071Thr) c.6184T>A (p.Ser2062Thr) c.6121T>A (p.Ser2041Thr) c.5992T>A (p.Ser1998Thr) c.5980T>A (p.Ser1994Thr) c.5953T>A (p.Ser1985Thr) n.6537T>A n.6511T>A c.6307T>A (p.Ser2103Thr) c.6301T>A (p.Ser2101Thr) c.6298T>A (p.Ser2100Thr) c.6193T>A (p.Ser2065Thr) c.6190T>A (p.Ser2064Thr) n.6296T>A n.6282T>A | |
| 11 | g.77211317T>C | CA381936269 | MYO7A | c.6217T>C (p.Ser2073Pro) c.4018T>C c.6070T>C (p.Ser2024Pro) c.3643T>C (p.Ser1215Pro) c.6103T>C (p.Ser2035Pro) n.3753T>C n.25+406T>C n.1684T>C c.6100T>C (p.Ser2034Pro) c.6208T>C (p.Ser2070Pro) c.6211T>C (p.Ser2071Pro) c.6184T>C (p.Ser2062Pro) c.6121T>C (p.Ser2041Pro) c.5992T>C (p.Ser1998Pro) c.5980T>C (p.Ser1994Pro) c.5953T>C (p.Ser1985Pro) n.6537T>C n.6511T>C c.6307T>C (p.Ser2103Pro) c.6301T>C (p.Ser2101Pro) c.6298T>C (p.Ser2100Pro) c.6193T>C (p.Ser2065Pro) c.6190T>C (p.Ser2064Pro) n.6296T>C n.6282T>C | gnomAD v4 |
| 11 | g.77211317T>G | CA381936271 | MYO7A | c.6217T>G (p.Ser2073Ala) c.4018T>G c.6070T>G (p.Ser2024Ala) c.3643T>G (p.Ser1215Ala) c.6103T>G (p.Ser2035Ala) n.3753T>G n.25+406T>G n.1684T>G c.6100T>G (p.Ser2034Ala) c.6208T>G (p.Ser2070Ala) c.6211T>G (p.Ser2071Ala) c.6184T>G (p.Ser2062Ala) c.6121T>G (p.Ser2041Ala) c.5992T>G (p.Ser1998Ala) c.5980T>G (p.Ser1994Ala) c.5953T>G (p.Ser1985Ala) n.6537T>G n.6511T>G c.6307T>G (p.Ser2103Ala) c.6301T>G (p.Ser2101Ala) c.6298T>G (p.Ser2100Ala) c.6193T>G (p.Ser2065Ala) c.6190T>G (p.Ser2064Ala) n.6296T>G n.6282T>G | |
| 11 | g.77211318C>A | CA381936274 | MYO7A | c.6218C>A (p.Ser2073Ter) c.4019C>A c.6071C>A (p.Ser2024Ter) c.3644C>A (p.Ser1215Ter) c.6104C>A (p.Ser2035Ter) n.3754C>A n.25+407C>A n.1685C>A c.6101C>A (p.Ser2034Ter) c.6209C>A (p.Ser2070Ter) c.6212C>A (p.Ser2071Ter) c.6185C>A (p.Ser2062Ter) c.6122C>A (p.Ser2041Ter) c.5993C>A (p.Ser1998Ter) c.5981C>A (p.Ser1994Ter) c.5954C>A (p.Ser1985Ter) n.6538C>A n.6512C>A c.6308C>A (p.Ser2103Ter) c.6302C>A (p.Ser2101Ter) c.6299C>A (p.Ser2100Ter) c.6194C>A (p.Ser2065Ter) c.6191C>A (p.Ser2064Ter) n.6297C>A n.6283C>A | gnomAD v4 |
| 11 | g.77211318C= | CA1984129911 | MYO7A | c.6218C= (p.Ser2073=) c.4019C= c.6071C= (p.Ser2024=) c.3644C= (p.Ser1215=) c.6104C= (p.Ser2035=) n.3754C= n.25+407C= n.1685C= c.6101C= (p.Ser2034=) c.6209C= (p.Ser2070=) c.6212C= (p.Ser2071=) c.6185C= (p.Ser2062=) c.6122C= (p.Ser2041=) c.5993C= (p.Ser1998=) c.5981C= (p.Ser1994=) c.5954C= (p.Ser1985=) n.6538C= n.6512C= c.6308C= (p.Ser2103=) c.6302C= (p.Ser2101=) c.6299C= (p.Ser2100=) c.6194C= (p.Ser2065=) c.6191C= (p.Ser2064=) n.6297C= n.6283C= | |
| 11 | g.77211318C>G | CA381936276 | MYO7A | c.6218C>G (p.Ser2073Ter) c.4019C>G c.6071C>G (p.Ser2024Ter) c.3644C>G (p.Ser1215Ter) c.6104C>G (p.Ser2035Ter) n.3754C>G n.25+407C>G n.1685C>G c.6101C>G (p.Ser2034Ter) c.6209C>G (p.Ser2070Ter) c.6212C>G (p.Ser2071Ter) c.6185C>G (p.Ser2062Ter) c.6122C>G (p.Ser2041Ter) c.5993C>G (p.Ser1998Ter) c.5981C>G (p.Ser1994Ter) c.5954C>G (p.Ser1985Ter) n.6538C>G n.6512C>G c.6308C>G (p.Ser2103Ter) c.6302C>G (p.Ser2101Ter) c.6299C>G (p.Ser2100Ter) c.6194C>G (p.Ser2065Ter) c.6191C>G (p.Ser2064Ter) n.6297C>G n.6283C>G | gnomAD v4 |
| 11 | g.77211318C>T | CA381936278 | MYO7A | c.6218C>T (p.Ser2073Leu) c.4019C>T c.6071C>T (p.Ser2024Leu) c.3644C>T (p.Ser1215Leu) c.6104C>T (p.Ser2035Leu) n.3754C>T n.25+407C>T n.1685C>T c.6101C>T (p.Ser2034Leu) c.6209C>T (p.Ser2070Leu) c.6212C>T (p.Ser2071Leu) c.6185C>T (p.Ser2062Leu) c.6122C>T (p.Ser2041Leu) c.5993C>T (p.Ser1998Leu) c.5981C>T (p.Ser1994Leu) c.5954C>T (p.Ser1985Leu) n.6538C>T n.6512C>T c.6308C>T (p.Ser2103Leu) c.6302C>T (p.Ser2101Leu) c.6299C>T (p.Ser2100Leu) c.6194C>T (p.Ser2065Leu) c.6191C>T (p.Ser2064Leu) n.6297C>T n.6283C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77211319A>C | CA475792063 | MYO7A | c.6219A>C (p.Ser2073=) c.4020A>C c.6072A>C (p.Ser2024=) c.3645A>C (p.Ser1215=) c.6105A>C (p.Ser2035=) n.3755A>C n.25+408A>C n.1686A>C c.6102A>C (p.Ser2034=) c.6210A>C (p.Ser2070=) c.6213A>C (p.Ser2071=) c.6186A>C (p.Ser2062=) c.6123A>C (p.Ser2041=) c.5994A>C (p.Ser1998=) c.5982A>C (p.Ser1994=) c.5955A>C (p.Ser1985=) n.6539A>C n.6513A>C c.6309A>C (p.Ser2103=) c.6303A>C (p.Ser2101=) c.6300A>C (p.Ser2100=) c.6195A>C (p.Ser2065=) c.6192A>C (p.Ser2064=) n.6298A>C n.6284A>C | gnomAD v4 |
| 11 | g.77211319A>G | CA475792064 | MYO7A | c.6219A>G (p.Ser2073=) c.4020A>G c.6072A>G (p.Ser2024=) c.3645A>G (p.Ser1215=) c.6105A>G (p.Ser2035=) n.3755A>G n.25+408A>G n.1686A>G c.6102A>G (p.Ser2034=) c.6210A>G (p.Ser2070=) c.6213A>G (p.Ser2071=) c.6186A>G (p.Ser2062=) c.6123A>G (p.Ser2041=) c.5994A>G (p.Ser1998=) c.5982A>G (p.Ser1994=) c.5955A>G (p.Ser1985=) n.6539A>G n.6513A>G c.6309A>G (p.Ser2103=) c.6303A>G (p.Ser2101=) c.6300A>G (p.Ser2100=) c.6195A>G (p.Ser2065=) c.6192A>G (p.Ser2064=) n.6298A>G n.6284A>G | ClinVar gnomAD v4 |
| 11 | g.77211319A>T | CA475792065 | MYO7A | c.6219A>T (p.Ser2073=) c.4020A>T c.6072A>T (p.Ser2024=) c.3645A>T (p.Ser1215=) c.6105A>T (p.Ser2035=) n.3755A>T n.25+408A>T n.1686A>T c.6102A>T (p.Ser2034=) c.6210A>T (p.Ser2070=) c.6213A>T (p.Ser2071=) c.6186A>T (p.Ser2062=) c.6123A>T (p.Ser2041=) c.5994A>T (p.Ser1998=) c.5982A>T (p.Ser1994=) c.5955A>T (p.Ser1985=) n.6539A>T n.6513A>T c.6309A>T (p.Ser2103=) c.6303A>T (p.Ser2101=) c.6300A>T (p.Ser2100=) c.6195A>T (p.Ser2065=) c.6192A>T (p.Ser2064=) n.6298A>T n.6284A>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77211320C>A | CA381936281 | MYO7A | c.6220C>A (p.Pro2074Thr) c.4021C>A c.6073C>A (p.Pro2025Thr) c.3646C>A (p.Pro1216Thr) c.6106C>A (p.Pro2036Thr) n.3756C>A n.25+409C>A n.1687C>A c.6103C>A (p.Pro2035Thr) c.6211C>A (p.Pro2071Thr) c.6214C>A (p.Pro2072Thr) c.6187C>A (p.Pro2063Thr) c.6124C>A (p.Pro2042Thr) c.5995C>A (p.Pro1999Thr) c.5983C>A (p.Pro1995Thr) c.5956C>A (p.Pro1986Thr) n.6540C>A n.6514C>A c.6310C>A (p.Pro2104Thr) c.6304C>A (p.Pro2102Thr) c.6301C>A (p.Pro2101Thr) c.6196C>A (p.Pro2066Thr) c.6193C>A (p.Pro2065Thr) n.6299C>A n.6285C>A | gnomAD v4 |
| 11 | g.77211320C= | CA1984129912 | MYO7A | c.6220C= (p.Pro2074=) c.4021C= c.6073C= (p.Pro2025=) c.3646C= (p.Pro1216=) c.6106C= (p.Pro2036=) n.3756C= n.25+409C= n.1687C= c.6103C= (p.Pro2035=) c.6211C= (p.Pro2071=) c.6214C= (p.Pro2072=) c.6187C= (p.Pro2063=) c.6124C= (p.Pro2042=) c.5995C= (p.Pro1999=) c.5983C= (p.Pro1995=) c.5956C= (p.Pro1986=) n.6540C= n.6514C= c.6310C= (p.Pro2104=) c.6304C= (p.Pro2102=) c.6301C= (p.Pro2101=) c.6196C= (p.Pro2066=) c.6193C= (p.Pro2065=) n.6299C= n.6285C= | |
| 11 | g.77211320C>G | CA381936283 | MYO7A | c.6220C>G (p.Pro2074Ala) c.4021C>G c.6073C>G (p.Pro2025Ala) c.3646C>G (p.Pro1216Ala) c.6106C>G (p.Pro2036Ala) n.3756C>G n.25+409C>G n.1687C>G c.6103C>G (p.Pro2035Ala) c.6211C>G (p.Pro2071Ala) c.6214C>G (p.Pro2072Ala) c.6187C>G (p.Pro2063Ala) c.6124C>G (p.Pro2042Ala) c.5995C>G (p.Pro1999Ala) c.5983C>G (p.Pro1995Ala) c.5956C>G (p.Pro1986Ala) n.6540C>G n.6514C>G c.6310C>G (p.Pro2104Ala) c.6304C>G (p.Pro2102Ala) c.6301C>G (p.Pro2101Ala) c.6196C>G (p.Pro2066Ala) c.6193C>G (p.Pro2065Ala) n.6299C>G n.6285C>G | |
| 11 | g.77211320C>T | CA6198952 | MYO7A | c.6220C>T (p.Pro2074Ser) c.4021C>T c.6073C>T (p.Pro2025Ser) c.3646C>T (p.Pro1216Ser) c.6106C>T (p.Pro2036Ser) n.3756C>T n.25+409C>T n.1687C>T c.6103C>T (p.Pro2035Ser) c.6211C>T (p.Pro2071Ser) c.6214C>T (p.Pro2072Ser) c.6187C>T (p.Pro2063Ser) c.6124C>T (p.Pro2042Ser) c.5995C>T (p.Pro1999Ser) c.5983C>T (p.Pro1995Ser) c.5956C>T (p.Pro1986Ser) n.6540C>T n.6514C>T c.6310C>T (p.Pro2104Ser) c.6304C>T (p.Pro2102Ser) c.6301C>T (p.Pro2101Ser) c.6196C>T (p.Pro2066Ser) c.6193C>T (p.Pro2065Ser) n.6299C>T n.6285C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77211321C>A | CA381936289 | MYO7A | c.6221C>A (p.Pro2074His) c.4022C>A c.6074C>A (p.Pro2025His) c.3647C>A (p.Pro1216His) c.6107C>A (p.Pro2036His) n.3757C>A n.25+410C>A n.1688C>A c.6104C>A (p.Pro2035His) c.6212C>A (p.Pro2071His) c.6215C>A (p.Pro2072His) c.6188C>A (p.Pro2063His) c.6125C>A (p.Pro2042His) c.5996C>A (p.Pro1999His) c.5984C>A (p.Pro1995His) c.5957C>A (p.Pro1986His) n.6541C>A n.6515C>A c.6311C>A (p.Pro2104His) c.6305C>A (p.Pro2102His) c.6302C>A (p.Pro2101His) c.6197C>A (p.Pro2066His) c.6194C>A (p.Pro2065His) n.6300C>A n.6286C>A | ClinVar gnomAD v4 COSMIC |
| 11 | g.77211321C= | CA1984129913 | MYO7A | c.6221C= (p.Pro2074=) c.4022C= c.6074C= (p.Pro2025=) c.3647C= (p.Pro1216=) c.6107C= (p.Pro2036=) n.3757C= n.25+410C= n.1688C= c.6104C= (p.Pro2035=) c.6212C= (p.Pro2071=) c.6215C= (p.Pro2072=) c.6188C= (p.Pro2063=) c.6125C= (p.Pro2042=) c.5996C= (p.Pro1999=) c.5984C= (p.Pro1995=) c.5957C= (p.Pro1986=) n.6541C= n.6515C= c.6311C= (p.Pro2104=) c.6305C= (p.Pro2102=) c.6302C= (p.Pro2101=) c.6197C= (p.Pro2066=) c.6194C= (p.Pro2065=) n.6300C= n.6286C= | |
| 11 | g.77211321C>G | CA6198953 | MYO7A | c.6221C>G (p.Pro2074Arg) c.4022C>G c.6074C>G (p.Pro2025Arg) c.3647C>G (p.Pro1216Arg) c.6107C>G (p.Pro2036Arg) n.3757C>G n.25+410C>G n.1688C>G c.6104C>G (p.Pro2035Arg) c.6212C>G (p.Pro2071Arg) c.6215C>G (p.Pro2072Arg) c.6188C>G (p.Pro2063Arg) c.6125C>G (p.Pro2042Arg) c.5996C>G (p.Pro1999Arg) c.5984C>G (p.Pro1995Arg) c.5957C>G (p.Pro1986Arg) n.6541C>G n.6515C>G c.6311C>G (p.Pro2104Arg) c.6305C>G (p.Pro2102Arg) c.6302C>G (p.Pro2101Arg) c.6197C>G (p.Pro2066Arg) c.6194C>G (p.Pro2065Arg) n.6300C>G n.6286C>G | dbSNP ExAC gnomAD v2 |
| 11 | g.77211321C>T | CA381936287 | MYO7A | c.6221C>T (p.Pro2074Leu) c.4022C>T c.6074C>T (p.Pro2025Leu) c.3647C>T (p.Pro1216Leu) c.6107C>T (p.Pro2036Leu) n.3757C>T n.25+410C>T n.1688C>T c.6104C>T (p.Pro2035Leu) c.6212C>T (p.Pro2071Leu) c.6215C>T (p.Pro2072Leu) c.6188C>T (p.Pro2063Leu) c.6125C>T (p.Pro2042Leu) c.5996C>T (p.Pro1999Leu) c.5984C>T (p.Pro1995Leu) c.5957C>T (p.Pro1986Leu) n.6541C>T n.6515C>T c.6311C>T (p.Pro2104Leu) c.6305C>T (p.Pro2102Leu) c.6302C>T (p.Pro2101Leu) c.6197C>T (p.Pro2066Leu) c.6194C>T (p.Pro2065Leu) n.6300C>T n.6286C>T | dbSNP gnomAD v4 |
| 11 | g.77211322T>A | CA475792066 | MYO7A | c.6222T>A (p.Pro2074=) c.4023T>A c.6075T>A (p.Pro2025=) c.3648T>A (p.Pro1216=) c.6108T>A (p.Pro2036=) n.3758T>A n.25+411T>A n.1689T>A c.6105T>A (p.Pro2035=) c.6213T>A (p.Pro2071=) c.6216T>A (p.Pro2072=) c.6189T>A (p.Pro2063=) c.6126T>A (p.Pro2042=) c.5997T>A (p.Pro1999=) c.5985T>A (p.Pro1995=) c.5958T>A (p.Pro1986=) n.6542T>A n.6516T>A c.6312T>A (p.Pro2104=) c.6306T>A (p.Pro2102=) c.6303T>A (p.Pro2101=) c.6198T>A (p.Pro2066=) c.6195T>A (p.Pro2065=) n.6301T>A n.6287T>A | |
| 11 | g.77211322T>C | CA475792068 | MYO7A | c.6222T>C (p.Pro2074=) c.4023T>C c.6075T>C (p.Pro2025=) c.3648T>C (p.Pro1216=) c.6108T>C (p.Pro2036=) n.3758T>C n.25+411T>C n.1689T>C c.6105T>C (p.Pro2035=) c.6213T>C (p.Pro2071=) c.6216T>C (p.Pro2072=) c.6189T>C (p.Pro2063=) c.6126T>C (p.Pro2042=) c.5997T>C (p.Pro1999=) c.5985T>C (p.Pro1995=) c.5958T>C (p.Pro1986=) n.6542T>C n.6516T>C c.6312T>C (p.Pro2104=) c.6306T>C (p.Pro2102=) c.6303T>C (p.Pro2101=) c.6198T>C (p.Pro2066=) c.6195T>C (p.Pro2065=) n.6301T>C n.6287T>C | gnomAD v4 |
| 11 | g.77211322T>G | CA475792067 | MYO7A | c.6222T>G (p.Pro2074=) c.4023T>G c.6075T>G (p.Pro2025=) c.3648T>G (p.Pro1216=) c.6108T>G (p.Pro2036=) n.3758T>G n.25+411T>G n.1689T>G c.6105T>G (p.Pro2035=) c.6213T>G (p.Pro2071=) c.6216T>G (p.Pro2072=) c.6189T>G (p.Pro2063=) c.6126T>G (p.Pro2042=) c.5997T>G (p.Pro1999=) c.5985T>G (p.Pro1995=) c.5958T>G (p.Pro1986=) n.6542T>G n.6516T>G c.6312T>G (p.Pro2104=) c.6306T>G (p.Pro2102=) c.6303T>G (p.Pro2101=) c.6198T>G (p.Pro2066=) c.6195T>G (p.Pro2065=) n.6301T>G n.6287T>G | gnomAD v4 |
| 11 | g.77211323G>A | CA381936293 | MYO7A | c.6223G>A (p.Asp2075Asn) c.4024G>A c.6076G>A (p.Asp2026Asn) c.3649G>A (p.Asp1217Asn) c.6109G>A (p.Asp2037Asn) n.3759G>A n.25+412G>A n.1690G>A c.6106G>A (p.Asp2036Asn) c.6214G>A (p.Asp2072Asn) c.6217G>A (p.Asp2073Asn) c.6190G>A (p.Asp2064Asn) c.6127G>A (p.Asp2043Asn) c.5998G>A (p.Asp2000Asn) c.5986G>A (p.Asp1996Asn) c.5959G>A (p.Asp1987Asn) n.6543G>A n.6517G>A c.6313G>A (p.Asp2105Asn) c.6307G>A (p.Asp2103Asn) c.6304G>A (p.Asp2102Asn) c.6199G>A (p.Asp2067Asn) c.6196G>A (p.Asp2066Asn) n.6302G>A n.6288G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77211323G>C | CA381936295 | MYO7A | c.6223G>C (p.Asp2075His) c.4024G>C c.6076G>C (p.Asp2026His) c.3649G>C (p.Asp1217His) c.6109G>C (p.Asp2037His) n.3759G>C n.25+412G>C n.1690G>C c.6106G>C (p.Asp2036His) c.6214G>C (p.Asp2072His) c.6217G>C (p.Asp2073His) c.6190G>C (p.Asp2064His) c.6127G>C (p.Asp2043His) c.5998G>C (p.Asp2000His) c.5986G>C (p.Asp1996His) c.5959G>C (p.Asp1987His) n.6543G>C n.6517G>C c.6313G>C (p.Asp2105His) c.6307G>C (p.Asp2103His) c.6304G>C (p.Asp2102His) c.6199G>C (p.Asp2067His) c.6196G>C (p.Asp2066His) n.6302G>C n.6288G>C | gnomAD v4 |
| 11 | g.77211323G>T | CA381936297 | MYO7A | c.6223G>T (p.Asp2075Tyr) c.4024G>T c.6076G>T (p.Asp2026Tyr) c.3649G>T (p.Asp1217Tyr) c.6109G>T (p.Asp2037Tyr) n.3759G>T n.25+412G>T n.1690G>T c.6106G>T (p.Asp2036Tyr) c.6214G>T (p.Asp2072Tyr) c.6217G>T (p.Asp2073Tyr) c.6190G>T (p.Asp2064Tyr) c.6127G>T (p.Asp2043Tyr) c.5998G>T (p.Asp2000Tyr) c.5986G>T (p.Asp1996Tyr) c.5959G>T (p.Asp1987Tyr) n.6543G>T n.6517G>T c.6313G>T (p.Asp2105Tyr) c.6307G>T (p.Asp2103Tyr) c.6304G>T (p.Asp2102Tyr) c.6199G>T (p.Asp2067Tyr) c.6196G>T (p.Asp2066Tyr) n.6302G>T n.6288G>T | gnomAD v4 |
| 11 | g.77211324A>C | CA381936299 | MYO7A | c.6224A>C (p.Asp2075Ala) c.4025A>C c.6077A>C (p.Asp2026Ala) c.3650A>C (p.Asp1217Ala) c.6110A>C (p.Asp2037Ala) n.3760A>C n.25+413A>C n.1691A>C c.6107A>C (p.Asp2036Ala) c.6215A>C (p.Asp2072Ala) c.6218A>C (p.Asp2073Ala) c.6191A>C (p.Asp2064Ala) c.6128A>C (p.Asp2043Ala) c.5999A>C (p.Asp2000Ala) c.5987A>C (p.Asp1996Ala) c.5960A>C (p.Asp1987Ala) n.6544A>C n.6518A>C c.6314A>C (p.Asp2105Ala) c.6308A>C (p.Asp2103Ala) c.6305A>C (p.Asp2102Ala) c.6200A>C (p.Asp2067Ala) c.6197A>C (p.Asp2066Ala) n.6303A>C n.6289A>C | |
| 11 | g.77211324A>G | CA381936301 | MYO7A | c.6224A>G (p.Asp2075Gly) c.4025A>G c.6077A>G (p.Asp2026Gly) c.3650A>G (p.Asp1217Gly) c.6110A>G (p.Asp2037Gly) n.3760A>G n.25+413A>G n.1691A>G c.6107A>G (p.Asp2036Gly) c.6215A>G (p.Asp2072Gly) c.6218A>G (p.Asp2073Gly) c.6191A>G (p.Asp2064Gly) c.6128A>G (p.Asp2043Gly) c.5999A>G (p.Asp2000Gly) c.5987A>G (p.Asp1996Gly) c.5960A>G (p.Asp1987Gly) n.6544A>G n.6518A>G c.6314A>G (p.Asp2105Gly) c.6308A>G (p.Asp2103Gly) c.6305A>G (p.Asp2102Gly) c.6200A>G (p.Asp2067Gly) c.6197A>G (p.Asp2066Gly) n.6303A>G n.6289A>G | |
| 11 | g.77211324A>T | CA381936303 | MYO7A | c.6224A>T (p.Asp2075Val) c.4025A>T c.6077A>T (p.Asp2026Val) c.3650A>T (p.Asp1217Val) c.6110A>T (p.Asp2037Val) n.3760A>T n.25+413A>T n.1691A>T c.6107A>T (p.Asp2036Val) c.6215A>T (p.Asp2072Val) c.6218A>T (p.Asp2073Val) c.6191A>T (p.Asp2064Val) c.6128A>T (p.Asp2043Val) c.5999A>T (p.Asp2000Val) c.5987A>T (p.Asp1996Val) c.5960A>T (p.Asp1987Val) n.6544A>T n.6518A>T c.6314A>T (p.Asp2105Val) c.6308A>T (p.Asp2103Val) c.6305A>T (p.Asp2102Val) c.6200A>T (p.Asp2067Val) c.6197A>T (p.Asp2066Val) n.6303A>T n.6289A>T | |
| 11 | g.77211325T>A | CA381936306 | MYO7A | c.6225T>A (p.Asp2075Glu) c.4026T>A c.6078T>A (p.Asp2026Glu) c.3651T>A (p.Asp1217Glu) c.6111T>A (p.Asp2037Glu) n.3761T>A n.25+414T>A n.1692T>A c.6108T>A (p.Asp2036Glu) c.6216T>A (p.Asp2072Glu) c.6219T>A (p.Asp2073Glu) c.6192T>A (p.Asp2064Glu) c.6129T>A (p.Asp2043Glu) c.6000T>A (p.Asp2000Glu) c.5988T>A (p.Asp1996Glu) c.5961T>A (p.Asp1987Glu) n.6545T>A n.6519T>A c.6315T>A (p.Asp2105Glu) c.6309T>A (p.Asp2103Glu) c.6306T>A (p.Asp2102Glu) c.6201T>A (p.Asp2067Glu) c.6198T>A (p.Asp2066Glu) n.6304T>A n.6290T>A | |
| 11 | g.77211325T>C | CA475792070 | MYO7A | c.6225T>C (p.Asp2075=) c.4026T>C c.6078T>C (p.Asp2026=) c.3651T>C (p.Asp1217=) c.6111T>C (p.Asp2037=) n.3761T>C n.25+414T>C n.1692T>C c.6108T>C (p.Asp2036=) c.6216T>C (p.Asp2072=) c.6219T>C (p.Asp2073=) c.6192T>C (p.Asp2064=) c.6129T>C (p.Asp2043=) c.6000T>C (p.Asp2000=) c.5988T>C (p.Asp1996=) c.5961T>C (p.Asp1987=) n.6545T>C n.6519T>C c.6315T>C (p.Asp2105=) c.6309T>C (p.Asp2103=) c.6306T>C (p.Asp2102=) c.6201T>C (p.Asp2067=) c.6198T>C (p.Asp2066=) n.6304T>C n.6290T>C | |
| 11 | g.77211325T>G | CA381936308 | MYO7A | c.6225T>G (p.Asp2075Glu) c.4026T>G c.6078T>G (p.Asp2026Glu) c.3651T>G (p.Asp1217Glu) c.6111T>G (p.Asp2037Glu) n.3761T>G n.25+414T>G n.1692T>G c.6108T>G (p.Asp2036Glu) c.6216T>G (p.Asp2072Glu) c.6219T>G (p.Asp2073Glu) c.6192T>G (p.Asp2064Glu) c.6129T>G (p.Asp2043Glu) c.6000T>G (p.Asp2000Glu) c.5988T>G (p.Asp1996Glu) c.5961T>G (p.Asp1987Glu) n.6545T>G n.6519T>G c.6315T>G (p.Asp2105Glu) c.6309T>G (p.Asp2103Glu) c.6306T>G (p.Asp2102Glu) c.6201T>G (p.Asp2067Glu) c.6198T>G (p.Asp2066Glu) n.6304T>G n.6290T>G | |
| 11 | g.77211326G>A | CA381936311 | MYO7A | c.6226G>A (p.Asp2076Asn) c.4027G>A c.6079G>A (p.Asp2027Asn) c.3652G>A (p.Asp1218Asn) c.6112G>A (p.Asp2038Asn) n.3762G>A n.25+415G>A n.1693G>A c.6109G>A (p.Asp2037Asn) c.6217G>A (p.Asp2073Asn) c.6220G>A (p.Asp2074Asn) c.6193G>A (p.Asp2065Asn) c.6130G>A (p.Asp2044Asn) c.6001G>A (p.Asp2001Asn) c.5989G>A (p.Asp1997Asn) c.5962G>A (p.Asp1988Asn) n.6546G>A n.6520G>A c.6316G>A (p.Asp2106Asn) c.6310G>A (p.Asp2104Asn) c.6307G>A (p.Asp2103Asn) c.6202G>A (p.Asp2068Asn) c.6199G>A (p.Asp2067Asn) n.6305G>A n.6291G>A | |
| 11 | g.77211326G>C | CA381936313 | MYO7A | c.6226G>C (p.Asp2076His) c.4027G>C c.6079G>C (p.Asp2027His) c.3652G>C (p.Asp1218His) c.6112G>C (p.Asp2038His) n.3762G>C n.25+415G>C n.1693G>C c.6109G>C (p.Asp2037His) c.6217G>C (p.Asp2073His) c.6220G>C (p.Asp2074His) c.6193G>C (p.Asp2065His) c.6130G>C (p.Asp2044His) c.6001G>C (p.Asp2001His) c.5989G>C (p.Asp1997His) c.5962G>C (p.Asp1988His) n.6546G>C n.6520G>C c.6316G>C (p.Asp2106His) c.6310G>C (p.Asp2104His) c.6307G>C (p.Asp2103His) c.6202G>C (p.Asp2068His) c.6199G>C (p.Asp2067His) n.6305G>C n.6291G>C | gnomAD v4 |
| 11 | g.77211326G>T | CA381936316 | MYO7A | c.6226G>T (p.Asp2076Tyr) c.4027G>T c.6079G>T (p.Asp2027Tyr) c.3652G>T (p.Asp1218Tyr) c.6112G>T (p.Asp2038Tyr) n.3762G>T n.25+415G>T n.1693G>T c.6109G>T (p.Asp2037Tyr) c.6217G>T (p.Asp2073Tyr) c.6220G>T (p.Asp2074Tyr) c.6193G>T (p.Asp2065Tyr) c.6130G>T (p.Asp2044Tyr) c.6001G>T (p.Asp2001Tyr) c.5989G>T (p.Asp1997Tyr) c.5962G>T (p.Asp1988Tyr) n.6546G>T n.6520G>T c.6316G>T (p.Asp2106Tyr) c.6310G>T (p.Asp2104Tyr) c.6307G>T (p.Asp2103Tyr) c.6202G>T (p.Asp2068Tyr) c.6199G>T (p.Asp2067Tyr) n.6305G>T n.6291G>T | gnomAD v4 |
| 11 | g.77211328_77211332del | CA2573147840 | MYO7A | c.6228_6232del (p.Asp2076GlufsTer?) c.4029_4033del c.6081_6085del (p.Asp2027GlufsTer?) c.3654_3658del (p.Asp1218GlufsTer?) c.6114_6118del (p.Asp2038GlufsTer?) n.3764_3768del n.25+417_25+421del n.1695_1699del c.6111_6115del (p.Asp2037GlufsTer?) c.6219_6223del (p.Asp2073GlufsTer?) c.6222_6226del (p.Asp2074GlufsTer?) c.6195_6199del (p.Asp2065GlufsTer?) c.6132_6136del (p.Asp2044GlufsTer?) c.6003_6007del (p.Asp2001GlufsTer?) c.5991_5995del (p.Asp1997GlufsTer?) c.5964_5968del (p.Asp1988GlufsTer?) n.6548_6552del n.6522_6526del c.6318_6322del (p.Asp2106GlufsTer?) c.6312_6316del (p.Asp2104GlufsTer?) c.6309_6313del (p.Asp2103GlufsTer?) c.6204_6208del (p.Asp2068GlufsTer?) c.6201_6205del (p.Asp2067GlufsTer?) n.6307_6311del n.6293_6297del | ClinVar dbSNP gnomAD v4 |
| 11 | g.77211327A>C | CA381936319 | MYO7A | c.6227A>C (p.Asp2076Ala) c.4028A>C c.6080A>C (p.Asp2027Ala) c.3653A>C (p.Asp1218Ala) c.6113A>C (p.Asp2038Ala) n.3763A>C n.25+416A>C n.1694A>C c.6110A>C (p.Asp2037Ala) c.6218A>C (p.Asp2073Ala) c.6221A>C (p.Asp2074Ala) c.6194A>C (p.Asp2065Ala) c.6131A>C (p.Asp2044Ala) c.6002A>C (p.Asp2001Ala) c.5990A>C (p.Asp1997Ala) c.5963A>C (p.Asp1988Ala) n.6547A>C n.6521A>C c.6317A>C (p.Asp2106Ala) c.6311A>C (p.Asp2104Ala) c.6308A>C (p.Asp2103Ala) c.6203A>C (p.Asp2068Ala) c.6200A>C (p.Asp2067Ala) n.6306A>C n.6292A>C | |
| 11 | g.77211327A>G | CA381936322 | MYO7A | c.6227A>G (p.Asp2076Gly) c.4028A>G c.6080A>G (p.Asp2027Gly) c.3653A>G (p.Asp1218Gly) c.6113A>G (p.Asp2038Gly) n.3763A>G n.25+416A>G n.1694A>G c.6110A>G (p.Asp2037Gly) c.6218A>G (p.Asp2073Gly) c.6221A>G (p.Asp2074Gly) c.6194A>G (p.Asp2065Gly) c.6131A>G (p.Asp2044Gly) c.6002A>G (p.Asp2001Gly) c.5990A>G (p.Asp1997Gly) c.5963A>G (p.Asp1988Gly) n.6547A>G n.6521A>G c.6317A>G (p.Asp2106Gly) c.6311A>G (p.Asp2104Gly) c.6308A>G (p.Asp2103Gly) c.6203A>G (p.Asp2068Gly) c.6200A>G (p.Asp2067Gly) n.6306A>G n.6292A>G | gnomAD v4 |
| 11 | g.77211327A>T | CA381936325 | MYO7A | c.6227A>T (p.Asp2076Val) c.4028A>T c.6080A>T (p.Asp2027Val) c.3653A>T (p.Asp1218Val) c.6113A>T (p.Asp2038Val) n.3763A>T n.25+416A>T n.1694A>T c.6110A>T (p.Asp2037Val) c.6218A>T (p.Asp2073Val) c.6221A>T (p.Asp2074Val) c.6194A>T (p.Asp2065Val) c.6131A>T (p.Asp2044Val) c.6002A>T (p.Asp2001Val) c.5990A>T (p.Asp1997Val) c.5963A>T (p.Asp1988Val) n.6547A>T n.6521A>T c.6317A>T (p.Asp2106Val) c.6311A>T (p.Asp2104Val) c.6308A>T (p.Asp2103Val) c.6203A>T (p.Asp2068Val) c.6200A>T (p.Asp2067Val) n.6306A>T n.6292A>T | |
| 11 | g.77211328C>A | CA381936330 | MYO7A | c.6228C>A (p.Asp2076Glu) c.4029C>A c.6081C>A (p.Asp2027Glu) c.3654C>A (p.Asp1218Glu) c.6114C>A (p.Asp2038Glu) n.3764C>A n.25+417C>A n.1695C>A c.6111C>A (p.Asp2037Glu) c.6219C>A (p.Asp2073Glu) c.6222C>A (p.Asp2074Glu) c.6195C>A (p.Asp2065Glu) c.6132C>A (p.Asp2044Glu) c.6003C>A (p.Asp2001Glu) c.5991C>A (p.Asp1997Glu) c.5964C>A (p.Asp1988Glu) n.6548C>A n.6522C>A c.6318C>A (p.Asp2106Glu) c.6312C>A (p.Asp2104Glu) c.6309C>A (p.Asp2103Glu) c.6204C>A (p.Asp2068Glu) c.6201C>A (p.Asp2067Glu) n.6307C>A n.6293C>A | gnomAD v4 |