| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7933894_7933948del | CA2588035128 | TIMM44 | c.600_654del (p.Tyr201ArgfsTer?) c.587_641del c.*288_*342del (n.*288_*342del) c.504_558del (p.Tyr169ArgfsTer?) n.6_60del n.585_639del | gnomAD v4 |
| 19 | g.7933903C>A | CA403699439 | TIMM44 | c.644G>T (p.Gly215Val) c.631G>T c.*332G>T (n.*332G>T) c.548G>T (p.Gly183Val) n.50G>T n.629G>T | |
| 19 | g.7933903C= | CA2321169187 | TIMM44 | c.644G= (p.Gly215=) c.631G= c.*332G= (n.*332G=) c.548G= (p.Gly183=) n.50G= n.629G= | |
| 19 | g.7933903C>G | CA403699436 | TIMM44 | c.644G>C (p.Gly215Ala) c.631G>C c.*332G>C (n.*332G>C) c.548G>C (p.Gly183Ala) n.50G>C n.629G>C | |
| 19 | g.7933903C>T | CA403699433 | TIMM44 | c.644G>A (p.Gly215Glu) c.631G>A c.*332G>A (n.*332G>A) c.548G>A (p.Gly183Glu) n.50G>A n.629G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933904C>A | CA403699443 | TIMM44 | c.643G>T (p.Gly215Ter) c.630G>T c.*331G>T (n.*331G>T) c.547G>T (p.Gly183Ter) n.49G>T n.628G>T | |
| 19 | g.7933904C>G | CA403699447 | TIMM44 | c.643G>C (p.Gly215Arg) c.630G>C c.*331G>C (n.*331G>C) c.547G>C (p.Gly183Arg) n.49G>C n.628G>C | |
| 19 | g.7933904C>T | CA403699449 | TIMM44 | c.643G>A (p.Gly215Arg) c.630G>A c.*331G>A (n.*331G>A) c.547G>A (p.Gly183Arg) n.49G>A n.628G>A | |
| 19 | g.7933905C>A | CA505415519 | TIMM44 | c.642G>T (p.Ala214=) c.629G>T c.*330G>T (n.*330G>T) c.546G>T (p.Ala182=) n.48G>T n.627G>T | gnomAD v4 |
| 19 | g.7933905C= | CA2321169188 | TIMM44 | c.642G= (p.Ala214=) c.629G= c.*330G= (n.*330G=) c.546G= (p.Ala182=) n.48G= n.627G= | |
| 19 | g.7933905C>G | CA505415520 | TIMM44 | c.642G>C (p.Ala214=) c.629G>C c.*330G>C (n.*330G>C) c.546G>C (p.Ala182=) n.48G>C n.627G>C | |
| 19 | g.7933905C>T | CA9149779 | TIMM44 | c.642G>A (p.Ala214=) c.629G>A c.*330G>A (n.*330G>A) c.546G>A (p.Ala182=) n.48G>A n.627G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933906G>A | CA9149780 | TIMM44 | c.641C>T (p.Ala214Val) c.628C>T c.*329C>T (n.*329C>T) c.545C>T (p.Ala182Val) n.47C>T n.626C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933906G>C | CA403699454 | TIMM44 | c.641C>G (p.Ala214Gly) c.628C>G c.*329C>G (n.*329C>G) c.545C>G (p.Ala182Gly) n.47C>G n.626C>G | |
| 19 | g.7933906G= | CA2321169189 | TIMM44 | c.641C= (p.Ala214=) c.628C= c.*329C= (n.*329C=) c.545C= (p.Ala182=) n.47C= n.626C= | |
| 19 | g.7933906G>T | CA403699456 | TIMM44 | c.641C>A (p.Ala214Glu) c.628C>A c.*329C>A (n.*329C>A) c.545C>A (p.Ala182Glu) n.47C>A n.626C>A | |
| 19 | g.7933906_7933928del | CA2588035129 | TIMM44 | c.619_641del (p.Leu207GlyfsTer3) c.606_628del c.*307_*329del (n.*307_*329del) c.523_545del (p.Leu175GlyfsTer3) n.25_47del n.604_626del | gnomAD v4 |
| 19 | g.7933907C>A | CA403699460 | TIMM44 | c.640G>T (p.Ala214Ser) c.627G>T c.*328G>T (n.*328G>T) c.544G>T (p.Ala182Ser) n.46G>T n.625G>T | |
| 19 | g.7933907C>G | CA403699463 | TIMM44 | c.640G>C (p.Ala214Pro) c.627G>C c.*328G>C (n.*328G>C) c.544G>C (p.Ala182Pro) n.46G>C n.625G>C | |
| 19 | g.7933907C>T | CA403699465 | TIMM44 | c.640G>A (p.Ala214Thr) c.627G>A c.*328G>A (n.*328G>A) c.544G>A (p.Ala182Thr) n.46G>A n.625G>A | |
| 19 | g.7933908A>C | CA403699469 | TIMM44 | c.639T>G (p.Phe213Leu) c.626T>G c.*327T>G (n.*327T>G) c.543T>G (p.Phe181Leu) n.45T>G n.624T>G | |
| 19 | g.7933908A>G | CA505415524 | TIMM44 | c.639T>C (p.Phe213=) c.626T>C c.*327T>C (n.*327T>C) c.543T>C (p.Phe181=) n.45T>C n.624T>C | gnomAD v4 |
| 19 | g.7933908A>T | CA403699471 | TIMM44 | c.639T>A (p.Phe213Leu) c.626T>A c.*327T>A (n.*327T>A) c.543T>A (p.Phe181Leu) n.45T>A n.624T>A | |
| 19 | g.7933909A>C | CA403699477 | TIMM44 | c.638T>G (p.Phe213Cys) c.625T>G c.*326T>G (n.*326T>G) c.542T>G (p.Phe181Cys) n.44T>G n.623T>G | |
| 19 | g.7933909A>G | CA403699474 | TIMM44 | c.638T>C (p.Phe213Ser) c.625T>C c.*326T>C (n.*326T>C) c.542T>C (p.Phe181Ser) n.44T>C n.623T>C | |
| 19 | g.7933909A>T | CA403699473 | TIMM44 | c.638T>A (p.Phe213Tyr) c.625T>A c.*326T>A (n.*326T>A) c.542T>A (p.Phe181Tyr) n.44T>A n.623T>A | |
| 19 | g.7933910A= | CA2321169190 | TIMM44 | c.637T= (p.Phe213=) c.624T= c.*325T= (n.*325T=) c.541T= (p.Phe181=) n.43T= n.622T= | |
| 19 | g.7933910A>C | CA403699480 | TIMM44 | c.637T>G (p.Phe213Val) c.624T>G c.*325T>G (n.*325T>G) c.541T>G (p.Phe181Val) n.43T>G n.622T>G | |
| 19 | g.7933910A>G | CA9149781 | TIMM44 | c.637T>C (p.Phe213Leu) c.624T>C c.*325T>C (n.*325T>C) c.541T>C (p.Phe181Leu) n.43T>C n.622T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933910A>T | CA403699482 | TIMM44 | c.637T>A (p.Phe213Ile) c.624T>A c.*325T>A (n.*325T>A) c.541T>A (p.Phe181Ile) n.43T>A n.622T>A | |
| 19 | g.7933911C>A | CA403699488 | TIMM44 | c.636G>T (p.Glu212Asp) c.623G>T c.*324G>T (n.*324G>T) c.540G>T (p.Glu180Asp) n.42G>T n.621G>T | |
| 19 | g.7933911C= | CA2321169191 | TIMM44 | c.636G= (p.Glu212=) c.623G= c.*324G= (n.*324G=) c.540G= (p.Glu180=) n.42G= n.621G= | |
| 19 | g.7933911C>G | CA304925520 | TIMM44 | c.636G>C (p.Glu212Asp) c.623G>C c.*324G>C (n.*324G>C) c.540G>C (p.Glu180Asp) n.42G>C n.621G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933911C>T | CA9149782 | TIMM44 | c.636G>A (p.Glu212=) c.623G>A c.*324G>A (n.*324G>A) c.540G>A (p.Glu180=) n.42G>A n.621G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933912T>A | CA403699505 | TIMM44 | c.635A>T (p.Glu212Val) c.622A>T c.*323A>T (n.*323A>T) c.539A>T (p.Glu180Val) n.41A>T n.620A>T | |
| 19 | g.7933912T>C | CA403699510 | TIMM44 | c.635A>G (p.Glu212Gly) c.622A>G c.*323A>G (n.*323A>G) c.539A>G (p.Glu180Gly) n.41A>G n.620A>G | |
| 19 | g.7933912T>G | CA403699512 | TIMM44 | c.635A>C (p.Glu212Ala) c.622A>C c.*323A>C (n.*323A>C) c.539A>C (p.Glu180Ala) n.41A>C n.620A>C | |
| 19 | g.7933913C>A | CA403699515 | TIMM44 | c.634G>T (p.Glu212Ter) c.621G>T c.*322G>T (n.*322G>T) c.538G>T (p.Glu180Ter) n.40G>T n.619G>T | |
| 19 | g.7933913C>G | CA403699522 | TIMM44 | c.634G>C (p.Glu212Gln) c.621G>C c.*322G>C (n.*322G>C) c.538G>C (p.Glu180Gln) n.40G>C n.619G>C | gnomAD v4 |
| 19 | g.7933913C>T | CA403699525 | TIMM44 | c.634G>A (p.Glu212Lys) c.621G>A c.*322G>A (n.*322G>A) c.538G>A (p.Glu180Lys) n.40G>A n.619G>A | |
| 19 | g.7933914C>A | CA505415531 | TIMM44 | c.633G>T (p.Thr211=) c.620G>T c.*321G>T (n.*321G>T) c.537G>T (p.Thr179=) n.39G>T n.618G>T | gnomAD v4 |
| 19 | g.7933914C= | CA2321169192 | TIMM44 | c.633G= (p.Thr211=) c.620G= c.*321G= (n.*321G=) c.537G= (p.Thr179=) n.39G= n.618G= | |
| 19 | g.7933914C>G | CA505415532 | TIMM44 | c.633G>C (p.Thr211=) c.620G>C c.*321G>C (n.*321G>C) c.537G>C (p.Thr179=) n.39G>C n.618G>C | |
| 19 | g.7933914C>T | CA9149783 | TIMM44 | c.633G>A (p.Thr211=) c.620G>A c.*321G>A (n.*321G>A) c.537G>A (p.Thr179=) n.39G>A n.618G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933915G>A | CA9149784 | TIMM44 | c.632C>T (p.Thr211Met) c.619C>T c.*320C>T (n.*320C>T) c.536C>T (p.Thr179Met) n.38C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933915G>C | CA403699534 | TIMM44 | c.632C>G (p.Thr211Arg) c.619C>G c.*320C>G (n.*320C>G) c.536C>G (p.Thr179Arg) n.38C>G n.617C>G | gnomAD v4 |
| 19 | g.7933915G= | CA2321169193 | TIMM44 | c.632C= (p.Thr211=) c.619C= c.*320C= (n.*320C=) c.536C= (p.Thr179=) n.38C= n.617C= | |
| 19 | g.7933915G>T | CA403699530 | TIMM44 | c.632C>A (p.Thr211Lys) c.619C>A c.*320C>A (n.*320C>A) c.536C>A (p.Thr179Lys) n.38C>A n.617C>A | |
| 19 | g.7933916T>A | CA403699542 | TIMM44 | c.631A>T (p.Thr211Ser) c.618A>T c.*319A>T (n.*319A>T) c.535A>T (p.Thr179Ser) n.37A>T n.616A>T | |
| 19 | g.7933916T>C | CA403699544 | TIMM44 | c.631A>G (p.Thr211Ala) c.618A>G c.*319A>G (n.*319A>G) c.535A>G (p.Thr179Ala) n.37A>G n.616A>G | gnomAD v4 |
| 19 | g.7933916T>G | CA403699549 | TIMM44 | c.631A>C (p.Thr211Pro) c.618A>C c.*319A>C (n.*319A>C) c.535A>C (p.Thr179Pro) n.37A>C n.616A>C | |
| 19 | g.7933917T>A | CA403699559 | TIMM44 | c.630A>T (p.Arg210Ser) c.617A>T c.*318A>T (n.*318A>T) c.534A>T (p.Arg178Ser) n.36A>T n.615A>T | |
| 19 | g.7933917T>C | CA505415535 | TIMM44 | c.630A>G (p.Arg210=) c.617A>G c.*318A>G (n.*318A>G) c.534A>G (p.Arg178=) n.36A>G n.615A>G | dbSNP |
| 19 | g.7933917T>G | CA403699561 | TIMM44 | c.630A>C (p.Arg210Ser) c.617A>C c.*318A>C (n.*318A>C) c.534A>C (p.Arg178Ser) n.36A>C n.615A>C | |
| 19 | g.7933917T= | CA2321169194 | TIMM44 | c.630A= (p.Arg210=) c.617A= c.*318A= (n.*318A=) c.534A= (p.Arg178=) n.36A= n.615A= | |
| 19 | g.7933918C>A | CA403699563 | TIMM44 | c.629G>T (p.Arg210Ile) c.616G>T c.*317G>T (n.*317G>T) c.533G>T (p.Arg178Ile) n.35G>T n.614G>T | |
| 19 | g.7933918C>G | CA403699565 | TIMM44 | c.629G>C (p.Arg210Thr) c.616G>C c.*317G>C (n.*317G>C) c.533G>C (p.Arg178Thr) n.35G>C n.614G>C | |
| 19 | g.7933918C>T | CA403699569 | TIMM44 | c.629G>A (p.Arg210Lys) c.616G>A c.*317G>A (n.*317G>A) c.533G>A (p.Arg178Lys) n.35G>A n.614G>A | gnomAD v4 |
| 19 | g.7933919T>A | CA403699577 | TIMM44 | c.628A>T (p.Arg210Ter) c.615A>T c.*316A>T (n.*316A>T) c.532A>T (p.Arg178Ter) n.34A>T n.613A>T | |
| 19 | g.7933919T>C | CA403699579 | TIMM44 | c.628A>G (p.Arg210Gly) c.615A>G c.*316A>G (n.*316A>G) c.532A>G (p.Arg178Gly) n.34A>G n.613A>G | |
| 19 | g.7933919T>G | CA505415538 | TIMM44 | c.628A>C (p.Arg210=) c.615A>C c.*316A>C (n.*316A>C) c.532A>C (p.Arg178=) n.34A>C n.613A>C | |
| 19 | g.7933920C>A | CA403699582 | TIMM44 | c.627G>T (p.Lys209Asn) c.614G>T c.*315G>T (n.*315G>T) c.531G>T (p.Lys177Asn) n.33G>T n.612G>T | |
| 19 | g.7933920C>G | CA403699583 | TIMM44 | c.627G>C (p.Lys209Asn) c.614G>C c.*315G>C (n.*315G>C) c.531G>C (p.Lys177Asn) n.33G>C n.612G>C | |
| 19 | g.7933920C>T | CA505415539 | TIMM44 | c.627G>A (p.Lys209=) c.614G>A c.*315G>A (n.*315G>A) c.531G>A (p.Lys177=) n.33G>A n.612G>A | |
| 19 | g.7933920_7933921insCGGAA | CA2588035130 | TIMM44 | c.626_627insTTCCG (p.Lys209AsnfsTer?) c.613_614insTTCCG c.*314_*315insTTCCG (n.*314_*315insTTCCG) c.530_531insTTCCG (p.Lys177AsnfsTer?) n.32_33insTTCCG n.611_612insTTCCG | gnomAD v4 |
| 19 | g.7933921T>A | CA403699585 | TIMM44 | c.626A>T (p.Lys209Met) c.613A>T c.*314A>T (n.*314A>T) c.530A>T (p.Lys177Met) n.32A>T n.611A>T | |
| 19 | g.7933921T>C | CA403699586 | TIMM44 | c.626A>G (p.Lys209Arg) c.613A>G c.*314A>G (n.*314A>G) c.530A>G (p.Lys177Arg) n.32A>G n.611A>G | gnomAD v4 |
| 19 | g.7933921T>G | CA403699584 | TIMM44 | c.626A>C (p.Lys209Thr) c.613A>C c.*314A>C (n.*314A>C) c.530A>C (p.Lys177Thr) n.32A>C n.611A>C | |
| 19 | g.7933922T>A | CA403699590 | TIMM44 | c.625A>T (p.Lys209Ter) c.612A>T c.*313A>T (n.*313A>T) c.529A>T (p.Lys177Ter) n.31A>T n.610A>T | |
| 19 | g.7933922T>C | CA403699600 | TIMM44 | c.625A>G (p.Lys209Glu) c.612A>G c.*313A>G (n.*313A>G) c.529A>G (p.Lys177Glu) n.31A>G n.610A>G | |
| 19 | g.7933922T>G | CA403699606 | TIMM44 | c.625A>C (p.Lys209Gln) c.612A>C c.*313A>C (n.*313A>C) c.529A>C (p.Lys177Gln) n.31A>C n.610A>C | |
| 19 | g.7933923C>A | CA505415543 | TIMM44 | c.624G>T (p.Arg208=) c.611G>T c.*312G>T (n.*312G>T) c.528G>T (p.Arg176=) n.30G>T n.609G>T | |
| 19 | g.7933923C>G | CA505415545 | TIMM44 | c.624G>C (p.Arg208=) c.611G>C c.*312G>C (n.*312G>C) c.528G>C (p.Arg176=) n.30G>C n.609G>C | |
| 19 | g.7933923C>T | CA505415544 | TIMM44 | c.624G>A (p.Arg208=) c.611G>A c.*312G>A (n.*312G>A) c.528G>A (p.Arg176=) n.30G>A n.609G>A | |
| 19 | g.7933924C>A | CA403699609 | TIMM44 | c.623G>T (p.Arg208Leu) c.610G>T c.*311G>T (n.*311G>T) c.527G>T (p.Arg176Leu) n.29G>T n.608G>T | gnomAD v4 |
| 19 | g.7933924C= | CA2321169195 | TIMM44 | c.623G= (p.Arg208=) c.610G= c.*311G= (n.*311G=) c.527G= (p.Arg176=) n.29G= n.608G= | |
| 19 | g.7933924C>G | CA403699612 | TIMM44 | c.623G>C (p.Arg208Pro) c.610G>C c.*311G>C (n.*311G>C) c.527G>C (p.Arg176Pro) n.29G>C n.608G>C | |
| 19 | g.7933924C>T | CA9149785 | TIMM44 | c.623G>A (p.Arg208Gln) c.610G>A c.*311G>A (n.*311G>A) c.527G>A (p.Arg176Gln) n.29G>A n.608G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933925G>A | CA9149786 | TIMM44 | c.622C>T (p.Arg208Trp) c.609C>T c.*310C>T (n.*310C>T) c.526C>T (p.Arg176Trp) n.28C>T n.607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.7933925G>C | CA403699618 | TIMM44 | c.622C>G (p.Arg208Gly) c.609C>G c.*310C>G (n.*310C>G) c.526C>G (p.Arg176Gly) n.28C>G n.607C>G | |
| 19 | g.7933925G= | CA2321169196 | TIMM44 | c.622C= (p.Arg208=) c.609C= c.*310C= (n.*310C=) c.526C= (p.Arg176=) n.28C= n.607C= | |
| 19 | g.7933925G>T | CA505415548 | TIMM44 | c.622C>A (p.Arg208=) c.609C>A c.*310C>A (n.*310C>A) c.526C>A (p.Arg176=) n.28C>A n.607C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7933925_7933926delinsAA | CA645609469 | TIMM44 | c.621_622delinsTT (p.Arg208Trp) c.608_609delinsTT c.*309_*310delinsTT (n.*309_*310delinsTT) c.525_526delinsTT (p.Arg176Trp) n.27_28delinsTT n.606_607delinsTT | COSMIC |
| 19 | g.7933926G>A | CA505415549 | TIMM44 | c.621C>T (p.Leu207=) c.608C>T c.*309C>T (n.*309C>T) c.525C>T (p.Leu175=) n.27C>T n.606C>T | COSMIC |
| 19 | g.7933926G>C | CA505415550 | TIMM44 | c.621C>G (p.Leu207=) c.608C>G c.*309C>G (n.*309C>G) c.525C>G (p.Leu175=) n.27C>G n.606C>G | |
| 19 | g.7933926G>T | CA505415551 | TIMM44 | c.621C>A (p.Leu207=) c.608C>A c.*309C>A (n.*309C>A) c.525C>A (p.Leu175=) n.27C>A n.606C>A | |
| 19 | g.7933927A>C | CA403699626 | TIMM44 | c.620T>G (p.Leu207Arg) c.607T>G c.*308T>G (n.*308T>G) c.524T>G (p.Leu175Arg) n.26T>G n.605T>G | |
| 19 | g.7933927A>G | CA403699628 | TIMM44 | c.620T>C (p.Leu207Pro) c.607T>C c.*308T>C (n.*308T>C) c.524T>C (p.Leu175Pro) n.26T>C n.605T>C | |
| 19 | g.7933927A>T | CA403699633 | TIMM44 | c.620T>A (p.Leu207His) c.607T>A c.*308T>A (n.*308T>A) c.524T>A (p.Leu175His) n.26T>A n.605T>A | |
| 19 | g.7933928G>A | CA403699638 | TIMM44 | c.619C>T (p.Leu207Phe) c.606C>T c.*307C>T (n.*307C>T) c.523C>T (p.Leu175Phe) n.25C>T n.604C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933928G>C | CA403699644 | TIMM44 | c.619C>G (p.Leu207Val) c.606C>G c.*307C>G (n.*307C>G) c.523C>G (p.Leu175Val) n.25C>G n.604C>G | |
| 19 | g.7933928G= | CA2321169197 | TIMM44 | c.619C= (p.Leu207=) c.606C= c.*307C= (n.*307C=) c.523C= (p.Leu175=) n.25C= n.604C= | |
| 19 | g.7933928G>T | CA403699649 | TIMM44 | c.619C>A (p.Leu207Ile) c.606C>A c.*307C>A (n.*307C>A) c.523C>A (p.Leu175Ile) n.25C>A n.604C>A | |
| 19 | g.7933929T>A | CA505415553 | TIMM44 | c.618A>T (p.Arg206=) c.605A>T c.*306A>T (n.*306A>T) c.522A>T (p.Arg174=) n.24A>T n.603A>T | |
| 19 | g.7933929T>C | CA505415554 | TIMM44 | c.618A>G (p.Arg206=) c.605A>G c.*306A>G (n.*306A>G) c.522A>G (p.Arg174=) n.24A>G n.603A>G | |
| 19 | g.7933929T>G | CA505415555 | TIMM44 | c.618A>C (p.Arg206=) c.605A>C c.*306A>C (n.*306A>C) c.522A>C (p.Arg174=) n.24A>C n.603A>C | |
| 19 | g.7933930C>A | CA403699672 | TIMM44 | c.617G>T (p.Arg206Leu) c.604G>T c.*305G>T (n.*305G>T) c.521G>T (p.Arg174Leu) n.23G>T n.602G>T | |
| 19 | g.7933930C= | CA2321169198 | TIMM44 | c.617G= (p.Arg206=) c.604G= c.*305G= (n.*305G=) c.521G= (p.Arg174=) n.23G= n.602G= | |
| 19 | g.7933930C>G | CA403699683 | TIMM44 | c.617G>C (p.Arg206Pro) c.604G>C c.*305G>C (n.*305G>C) c.521G>C (p.Arg174Pro) n.23G>C n.602G>C | |
| 19 | g.7933930C>T | CA9149787 | TIMM44 | c.617G>A (p.Arg206Gln) c.604G>A c.*305G>A (n.*305G>A) c.521G>A (p.Arg174Gln) n.23G>A n.602G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933931G>A | CA403699686 | TIMM44 | c.616C>T (p.Arg206Ter) c.603C>T c.*304C>T (n.*304C>T) c.520C>T (p.Arg174Ter) n.22C>T n.601C>T | gnomAD v4 |
| 19 | g.7933931G>C | CA403699688 | TIMM44 | c.616C>G (p.Arg206Gly) c.603C>G c.*304C>G (n.*304C>G) c.520C>G (p.Arg174Gly) n.22C>G n.601C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7933931G= | CA2321169199 | TIMM44 | c.616C= (p.Arg206=) c.603C= c.*304C= (n.*304C=) c.520C= (p.Arg174=) n.22C= n.601C= | |
| 19 | g.7933931G>T | CA505415556 | TIMM44 | c.616C>A (p.Arg206=) c.603C>A c.*304C>A (n.*304C>A) c.520C>A (p.Arg174=) n.22C>A n.601C>A | |
| 19 | g.7933932C>A | CA403699690 | TIMM44 | c.615G>T (p.Gln205His) c.602G>T c.*303G>T (n.*303G>T) c.519G>T (p.Gln173His) n.21G>T n.600G>T | |
| 19 | g.7933932C= | CA2321169200 | TIMM44 | c.615G= (p.Gln205=) c.602G= c.*303G= (n.*303G=) c.519G= (p.Gln173=) n.21G= n.600G= | |
| 19 | g.7933932C>G | CA403699692 | TIMM44 | c.615G>C (p.Gln205His) c.602G>C c.*303G>C (n.*303G>C) c.519G>C (p.Gln173His) n.21G>C n.600G>C | |
| 19 | g.7933932C>T | CA505415559 | TIMM44 | c.615G>A (p.Gln205=) c.602G>A c.*303G>A (n.*303G>A) c.519G>A (p.Gln173=) n.21G>A n.600G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7933933T>A | CA403699693 | TIMM44 | c.614A>T (p.Gln205Leu) c.601A>T c.*302A>T (n.*302A>T) c.518A>T (p.Gln173Leu) n.20A>T n.599A>T | |
| 19 | g.7933933T>C | CA403699695 | TIMM44 | c.614A>G (p.Gln205Arg) c.601A>G c.*302A>G (n.*302A>G) c.518A>G (p.Gln173Arg) n.20A>G n.599A>G | gnomAD v4 |
| 19 | g.7933933T>G | CA403699708 | TIMM44 | c.614A>C (p.Gln205Pro) c.601A>C c.*302A>C (n.*302A>C) c.518A>C (p.Gln173Pro) n.20A>C n.599A>C | |
| 19 | g.7933934G>A | CA403699710 | TIMM44 | c.613C>T (p.Gln205Ter) c.600C>T c.*301C>T (n.*301C>T) c.517C>T (p.Gln173Ter) n.19C>T n.598C>T | |
| 19 | g.7933934G>C | CA403699712 | TIMM44 | c.613C>G (p.Gln205Glu) c.600C>G c.*301C>G (n.*301C>G) c.517C>G (p.Gln173Glu) n.19C>G n.598C>G | |
| 19 | g.7933934G>T | CA403699713 | TIMM44 | c.613C>A (p.Gln205Lys) c.600C>A c.*301C>A (n.*301C>A) c.517C>A (p.Gln173Lys) n.19C>A n.598C>A | |
| 19 | g.7933935G>A | CA9149788 | TIMM44 | c.612C>T (p.Pro204=) c.599C>T c.*300C>T (n.*300C>T) c.516C>T (p.Pro172=) n.18C>T n.597C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933935G>C | CA505415562 | TIMM44 | c.612C>G (p.Pro204=) c.599C>G c.*300C>G (n.*300C>G) c.516C>G (p.Pro172=) n.18C>G n.597C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933935G= | CA2321169201 | TIMM44 | c.612C= (p.Pro204=) c.599C= c.*300C= (n.*300C=) c.516C= (p.Pro172=) n.18C= n.597C= | |
| 19 | g.7933935G>T | CA505415563 | TIMM44 | c.612C>A (p.Pro204=) c.599C>A c.*300C>A (n.*300C>A) c.516C>A (p.Pro172=) n.18C>A n.597C>A | |
| 19 | g.7933936G>A | CA403699718 | TIMM44 | c.611C>T (p.Pro204Leu) c.598C>T c.*299C>T (n.*299C>T) c.515C>T (p.Pro172Leu) n.17C>T n.596C>T | |
| 19 | g.7933936G>C | CA403699716 | TIMM44 | c.611C>G (p.Pro204Arg) c.598C>G c.*299C>G (n.*299C>G) c.515C>G (p.Pro172Arg) n.17C>G n.596C>G | |
| 19 | g.7933936G= | CA2321169202 | TIMM44 | c.611C= (p.Pro204=) c.598C= c.*299C= (n.*299C=) c.515C= (p.Pro172=) n.17C= n.596C= | |
| 19 | g.7933936G>T | CA9149789 | TIMM44 | c.611C>A (p.Pro204His) c.598C>A c.*299C>A (n.*299C>A) c.515C>A (p.Pro172His) n.17C>A n.596C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933937G>A | CA403699722 | TIMM44 | c.610C>T (p.Pro204Ser) c.597C>T c.*298C>T (n.*298C>T) c.514C>T (p.Pro172Ser) n.16C>T n.595C>T | |
| 19 | g.7933937G>C | CA403699732 | TIMM44 | c.610C>G (p.Pro204Ala) c.597C>G c.*298C>G (n.*298C>G) c.514C>G (p.Pro172Ala) n.16C>G n.595C>G | |
| 19 | g.7933937G>T | CA403699725 | TIMM44 | c.610C>A (p.Pro204Thr) c.597C>A c.*298C>A (n.*298C>A) c.514C>A (p.Pro172Thr) n.16C>A n.595C>A | |
| 19 | g.7933938C>A | CA403699735 | TIMM44 | c.609G>T (p.Arg203Ser) c.596G>T c.*297G>T (n.*297G>T) c.513G>T (p.Arg171Ser) n.15G>T n.594G>T | gnomAD v4 |
| 19 | g.7933938C= | CA2321169203 | TIMM44 | c.609G= (p.Arg203=) c.596G= c.*297G= (n.*297G=) c.513G= (p.Arg171=) n.15G= n.594G= | |
| 19 | g.7933938C>G | CA403699737 | TIMM44 | c.609G>C (p.Arg203Ser) c.596G>C c.*297G>C (n.*297G>C) c.513G>C (p.Arg171Ser) n.15G>C n.594G>C | |
| 19 | g.7933938C>T | CA9149790 | TIMM44 | c.609G>A (p.Arg203=) c.596G>A c.*297G>A (n.*297G>A) c.513G>A (p.Arg171=) n.15G>A n.594G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933939C>A | CA403699738 | TIMM44 | c.608G>T (p.Arg203Met) c.595G>T c.*296G>T (n.*296G>T) c.512G>T (p.Arg171Met) n.14G>T n.593G>T | |
| 19 | g.7933939C>G | CA403699740 | TIMM44 | c.608G>C (p.Arg203Thr) c.595G>C c.*296G>C (n.*296G>C) c.512G>C (p.Arg171Thr) n.14G>C n.593G>C | |
| 19 | g.7933939C>T | CA403699739 | TIMM44 | c.608G>A (p.Arg203Lys) c.595G>A c.*296G>A (n.*296G>A) c.512G>A (p.Arg171Lys) n.14G>A n.593G>A | |
| 19 | g.7933940T>A | CA403699742 | TIMM44 | c.607A>T (p.Arg203Trp) c.594A>T c.*295A>T (n.*295A>T) c.511A>T (p.Arg171Trp) n.13A>T n.592A>T | |
| 19 | g.7933940T>C | CA403699746 | TIMM44 | c.607A>G (p.Arg203Gly) c.594A>G c.*295A>G (n.*295A>G) c.511A>G (p.Arg171Gly) n.13A>G n.592A>G | |
| 19 | g.7933940T>G | CA505415564 | TIMM44 | c.607A>C (p.Arg203=) c.594A>C c.*295A>C (n.*295A>C) c.511A>C (p.Arg171=) n.13A>C n.592A>C | dbSNP |
| 19 | g.7933940T= | CA2321169204 | TIMM44 | c.607A= (p.Arg203=) c.594A= c.*295A= (n.*295A=) c.511A= (p.Arg171=) n.13A= n.592A= | |
| 19 | g.7933941C>A | CA505415565 | TIMM44 | c.606G>T (p.Arg202=) c.593G>T c.*294G>T (n.*294G>T) c.510G>T (p.Arg170=) n.12G>T n.591G>T | |
| 19 | g.7933941C>G | CA505415566 | TIMM44 | c.606G>C (p.Arg202=) c.593G>C c.*294G>C (n.*294G>C) c.510G>C (p.Arg170=) n.12G>C n.591G>C | |
| 19 | g.7933941C>T | CA505415567 | TIMM44 | c.606G>A (p.Arg202=) c.593G>A c.*294G>A (n.*294G>A) c.510G>A (p.Arg170=) n.12G>A n.591G>A | COSMIC |
| 19 | g.7933942C>A | CA403699751 | TIMM44 | c.605G>T (p.Arg202Leu) c.592G>T c.*293G>T (n.*293G>T) c.509G>T (p.Arg170Leu) n.11G>T n.590G>T | |
| 19 | g.7933942C= | CA2321169205 | TIMM44 | c.605G= (p.Arg202=) c.592G= c.*293G= (n.*293G=) c.509G= (p.Arg170=) n.11G= n.590G= | |
| 19 | g.7933942C>G | CA403699759 | TIMM44 | c.605G>C (p.Arg202Pro) c.592G>C c.*293G>C (n.*293G>C) c.509G>C (p.Arg170Pro) n.11G>C n.590G>C | gnomAD v4 |
| 19 | g.7933942C>T | CA9149791 | TIMM44 | c.605G>A (p.Arg202Gln) c.592G>A c.*293G>A (n.*293G>A) c.509G>A (p.Arg170Gln) n.11G>A n.590G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.7933943G>A | CA9149792 | TIMM44 | c.604C>T (p.Arg202Trp) c.591C>T c.*292C>T (n.*292C>T) c.508C>T (p.Arg170Trp) n.10C>T n.589C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933943G>C | CA403699767 | TIMM44 | c.604C>G (p.Arg202Gly) c.591C>G c.*292C>G (n.*292C>G) c.508C>G (p.Arg170Gly) n.10C>G n.589C>G | gnomAD v4 |
| 19 | g.7933943G= | CA2321169206 | TIMM44 | c.604C= (p.Arg202=) c.591C= c.*292C= (n.*292C=) c.508C= (p.Arg170=) n.10C= n.589C= | |
| 19 | g.7933943G>T | CA505415570 | TIMM44 | c.604C>A (p.Arg202=) c.591C>A c.*292C>A (n.*292C>A) c.508C>A (p.Arg170=) n.10C>A n.589C>A | gnomAD v4 COSMIC |
| 19 | g.7933944G>A | CA505415572 | TIMM44 | c.603C>T (p.Tyr201=) c.590C>T c.*291C>T (n.*291C>T) c.507C>T (p.Tyr169=) n.9C>T n.588C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933944G>C | CA403699770 | TIMM44 | c.603C>G (p.Tyr201Ter) c.590C>G c.*291C>G (n.*291C>G) c.507C>G (p.Tyr169Ter) n.9C>G n.588C>G | |
| 19 | g.7933944G= | CA2321169207 | TIMM44 | c.603C= (p.Tyr201=) c.590C= c.*291C= (n.*291C=) c.507C= (p.Tyr169=) n.9C= n.588C= | |
| 19 | g.7933944G>T | CA403699772 | TIMM44 | c.603C>A (p.Tyr201Ter) c.590C>A c.*291C>A (n.*291C>A) c.507C>A (p.Tyr169Ter) n.9C>A n.588C>A | |
| 19 | g.7933945T>A | CA403699775 | TIMM44 | c.602A>T (p.Tyr201Phe) c.589A>T c.*290A>T (n.*290A>T) c.506A>T (p.Tyr169Phe) n.8A>T n.587A>T | |
| 19 | g.7933945T>C | CA403699779 | TIMM44 | c.602A>G (p.Tyr201Cys) c.589A>G c.*290A>G (n.*290A>G) c.506A>G (p.Tyr169Cys) n.8A>G n.587A>G | |
| 19 | g.7933945T>G | CA403699780 | TIMM44 | c.602A>C (p.Tyr201Ser) c.589A>C c.*290A>C (n.*290A>C) c.506A>C (p.Tyr169Ser) n.8A>C n.587A>C | |
| 19 | g.7933946A>C | CA403699781 | TIMM44 | c.601T>G (p.Tyr201Asp) c.588T>G c.*289T>G (n.*289T>G) c.505T>G (p.Tyr169Asp) n.7T>G n.586T>G | |
| 19 | g.7933946A>G | CA403699783 | TIMM44 | c.601T>C (p.Tyr201His) c.588T>C c.*289T>C (n.*289T>C) c.505T>C (p.Tyr169His) n.7T>C n.586T>C | |
| 19 | g.7933946A>T | CA403699782 | TIMM44 | c.601T>A (p.Tyr201Asn) c.588T>A c.*289T>A (n.*289T>A) c.505T>A (p.Tyr169Asn) n.7T>A n.586T>A | |
| 19 | g.7933947G>A | CA505415573 | TIMM44 | c.600C>T (p.Pro200=) c.587C>T c.*288C>T (n.*288C>T) c.504C>T (p.Pro168=) n.6C>T n.585C>T | |
| 19 | g.7933947G>C | CA505415574 | TIMM44 | c.600C>G (p.Pro200=) c.587C>G c.*288C>G (n.*288C>G) c.504C>G (p.Pro168=) n.6C>G n.585C>G | gnomAD v4 |
| 19 | g.7933947G>T | CA505415575 | TIMM44 | c.600C>A (p.Pro200=) c.587C>A c.*288C>A (n.*288C>A) c.504C>A (p.Pro168=) n.6C>A n.585C>A | |
| 19 | g.7933948G>A | CA403699784 | TIMM44 | c.599C>T (p.Pro200Leu) c.586C>T c.*287C>T (n.*287C>T) c.503C>T (p.Pro168Leu) n.5C>T n.584C>T | dbSNP |
| 19 | g.7933948G>C | CA403699786 | TIMM44 | c.599C>G (p.Pro200Arg) c.586C>G c.*287C>G (n.*287C>G) c.503C>G (p.Pro168Arg) n.5C>G n.584C>G | |
| 19 | g.7933948G= | CA2321169208 | TIMM44 | c.599C= (p.Pro200=) c.586C= c.*287C= (n.*287C=) c.503C= (p.Pro168=) n.5C= n.584C= | |
| 19 | g.7933948G>T | CA403699788 | TIMM44 | c.599C>A (p.Pro200His) c.586C>A c.*287C>A (n.*287C>A) c.503C>A (p.Pro168His) n.5C>A n.584C>A | |
| 19 | g.7933949G>A | CA403699801 | TIMM44 | c.598C>T (p.Pro200Ser) c.585C>T c.*286C>T (n.*286C>T) c.502C>T (p.Pro168Ser) n.4C>T n.583C>T | dbSNP gnomAD v2 |
| 19 | g.7933949G>C | CA403699803 | TIMM44 | c.598C>G (p.Pro200Ala) c.585C>G c.*286C>G (n.*286C>G) c.502C>G (p.Pro168Ala) n.4C>G n.583C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933949G= | CA2321169209 | TIMM44 | c.598C= (p.Pro200=) c.585C= c.*286C= (n.*286C=) c.502C= (p.Pro168=) n.4C= n.583C= | |
| 19 | g.7933949G>T | CA403699811 | TIMM44 | c.598C>A (p.Pro200Thr) c.585C>A c.*286C>A (n.*286C>A) c.502C>A (p.Pro168Thr) n.4C>A n.583C>A | |
| 19 | g.7933950C>A | CA505415576 | TIMM44 | c.597G>T (p.Gly199=) c.584G>T c.*285G>T (n.*285G>T) c.501G>T (p.Gly167=) n.3G>T n.582G>T | |
| 19 | g.7933950C= | CA2321169210 | TIMM44 | c.597G= (p.Gly199=) c.584G= c.*285G= (n.*285G=) c.501G= (p.Gly167=) n.3G= n.582G= | |
| 19 | g.7933950C>G | CA505415577 | TIMM44 | c.597G>C (p.Gly199=) c.584G>C c.*285G>C (n.*285G>C) c.501G>C (p.Gly167=) n.3G>C n.582G>C | |
| 19 | g.7933950C>T | CA505415579 | TIMM44 | c.597G>A (p.Gly199=) c.584G>A c.*285G>A (n.*285G>A) c.501G>A (p.Gly167=) n.3G>A n.582G>A | dbSNP gnomAD v4 |
| 19 | g.7933951C>A | CA403699816 | TIMM44 | c.596G>T (p.Gly199Val) c.583G>T c.*284G>T (n.*284G>T) c.500G>T (p.Gly167Val) n.2G>T n.581G>T | |
| 19 | g.7933951C>G | CA403699817 | TIMM44 | c.596G>C (p.Gly199Ala) c.583G>C c.*284G>C (n.*284G>C) c.500G>C (p.Gly167Ala) n.2G>C n.581G>C | |
| 19 | g.7933951C>T | CA403699818 | TIMM44 | c.596G>A (p.Gly199Glu) c.583G>A c.*284G>A (n.*284G>A) c.500G>A (p.Gly167Glu) n.2G>A n.581G>A | |
| 19 | g.7933952C>A | CA403699830 | TIMM44 | c.595G>T (p.Gly199Trp) c.582G>T c.*283G>T (n.*283G>T) c.499G>T (p.Gly167Trp) n.1G>T n.580G>T | |
| 19 | g.7933952C= | CA2321169211 | TIMM44 | c.595G= (p.Gly199=) c.582G= c.*283G= (n.*283G=) c.499G= (p.Gly167=) n.1G= n.580G= | |
| 19 | g.7933952C>G | CA403699824 | TIMM44 | c.595G>C (p.Gly199Arg) c.582G>C c.*283G>C (n.*283G>C) c.499G>C (p.Gly167Arg) n.1G>C n.580G>C | gnomAD v4 |
| 19 | g.7933952C>T | CA9149793 | TIMM44 | c.595G>A (p.Gly199Arg) c.582G>A c.*283G>A (n.*283G>A) c.499G>A (p.Gly167Arg) n.1G>A n.580G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933953G>A | CA9149794 | TIMM44 | c.594C>T (p.Thr198=) c.581C>T c.*282C>T (n.*282C>T) c.498C>T (p.Thr166=) n.579C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933953G>C | CA505415583 | TIMM44 | c.594C>G (p.Thr198=) c.581C>G c.*282C>G (n.*282C>G) c.498C>G (p.Thr166=) n.579C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7933953G= | CA2321169212 | TIMM44 | c.594C= (p.Thr198=) c.581C= c.*282C= (n.*282C=) c.498C= (p.Thr166=) n.579C= | |
| 19 | g.7933953G>T | CA505415582 | TIMM44 | c.594C>A (p.Thr198=) c.581C>A c.*282C>A (n.*282C>A) c.498C>A (p.Thr166=) n.579C>A | |
| 19 | g.7933954G>A | CA403699839 | TIMM44 | c.593C>T (p.Thr198Ile) c.580C>T c.*281C>T (n.*281C>T) c.497C>T (p.Thr166Ile) n.578C>T | dbSNP |
| 19 | g.7933954G>C | CA403699841 | TIMM44 | c.593C>G (p.Thr198Ser) c.580C>G c.*281C>G (n.*281C>G) c.497C>G (p.Thr166Ser) n.578C>G | |
| 19 | g.7933954G= | CA2321169213 | TIMM44 | c.593C= (p.Thr198=) c.580C= c.*281C= (n.*281C=) c.497C= (p.Thr166=) n.578C= | |
| 19 | g.7933954G>T | CA403699842 | TIMM44 | c.593C>A (p.Thr198Asn) c.580C>A c.*281C>A (n.*281C>A) c.497C>A (p.Thr166Asn) n.578C>A | |
| 19 | g.7933955_7933964dup | CA2588035131 | TIMM44 | c.584_593dup (p.Pro200ThrfsTer21) c.571_580dup c.*272_*281dup (n.*272_*281dup) c.488_497dup (p.Pro168ThrfsTer21) n.569_578dup | gnomAD v4 |
| 19 | g.7933955T>A | CA403699845 | TIMM44 | c.592A>T (p.Thr198Ser) c.579A>T c.*280A>T (n.*280A>T) c.496A>T (p.Thr166Ser) n.577A>T | dbSNP |
| 19 | g.7933955T>C | CA403699848 | TIMM44 | c.592A>G (p.Thr198Ala) c.579A>G c.*280A>G (n.*280A>G) c.496A>G (p.Thr166Ala) n.577A>G | |
| 19 | g.7933955T>G | CA403699854 | TIMM44 | c.592A>C (p.Thr198Pro) c.579A>C c.*280A>C (n.*280A>C) c.496A>C (p.Thr166Pro) n.577A>C | dbSNP |
| 19 | g.7933955T= | CA2321169214 | TIMM44 | c.592A= (p.Thr198=) c.579A= c.*280A= (n.*280A=) c.496A= (p.Thr166=) n.577A= | |
| 19 | g.7933956C>A | CA403699859 | TIMM44 | c.591G>T (p.Gln197His) c.578G>T c.*279G>T (n.*279G>T) c.495G>T (p.Gln165His) n.576G>T | |
| 19 | g.7933956C>G | CA403699860 | TIMM44 | c.591G>C (p.Gln197His) c.578G>C c.*279G>C (n.*279G>C) c.495G>C (p.Gln165His) n.576G>C | |
| 19 | g.7933956C>T | CA505415586 | TIMM44 | c.591G>A (p.Gln197=) c.578G>A c.*279G>A (n.*279G>A) c.495G>A (p.Gln165=) n.576G>A | |
| 19 | g.7933957T>A | CA403699862 | TIMM44 | c.590A>T (p.Gln197Leu) c.577A>T c.*278A>T (n.*278A>T) c.494A>T (p.Gln165Leu) n.575A>T | |
| 19 | g.7933957T>C | CA403699863 | TIMM44 | c.590A>G (p.Gln197Arg) c.577A>G c.*278A>G (n.*278A>G) c.494A>G (p.Gln165Arg) n.575A>G | |
| 19 | g.7933957T>G | CA403699864 | TIMM44 | c.590A>C (p.Gln197Pro) c.577A>C c.*278A>C (n.*278A>C) c.494A>C (p.Gln165Pro) n.575A>C | |
| 19 | g.7933958G>A | CA403699866 | TIMM44 | c.589C>T (p.Gln197Ter) c.576C>T c.*277C>T (n.*277C>T) c.493C>T (p.Gln165Ter) n.574C>T | gnomAD v4 |
| 19 | g.7933958G>C | CA9149795 | TIMM44 | c.589C>G (p.Gln197Glu) c.576C>G c.*277C>G (n.*277C>G) c.493C>G (p.Gln165Glu) n.574C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933958G= | CA2321169215 | TIMM44 | c.589C= (p.Gln197=) c.576C= c.*277C= (n.*277C=) c.493C= (p.Gln165=) n.574C= | |
| 19 | g.7933958G>T | CA403699865 | TIMM44 | c.589C>A (p.Gln197Lys) c.576C>A c.*277C>A (n.*277C>A) c.493C>A (p.Gln165Lys) n.574C>A | |
| 19 | g.7933959T>A | CA304925573 | TIMM44 | c.588A>T (p.Gly196=) c.575A>T c.*276A>T (n.*276A>T) c.492A>T (p.Gly164=) n.573A>T | dbSNP |
| 19 | g.7933959T>C | CA505415589 | TIMM44 | c.588A>G (p.Gly196=) c.575A>G c.*276A>G (n.*276A>G) c.492A>G (p.Gly164=) n.573A>G | |
| 19 | g.7933959T>G | CA505415590 | TIMM44 | c.588A>C (p.Gly196=) c.575A>C c.*276A>C (n.*276A>C) c.492A>C (p.Gly164=) n.573A>C | |
| 19 | g.7933959T= | CA2321169216 | TIMM44 | c.588A= (p.Gly196=) c.575A= c.*276A= (n.*276A=) c.492A= (p.Gly164=) n.573A= | |
| 19 | g.7933960C>A | CA403699869 | TIMM44 | c.587G>T (p.Gly196Val) c.574G>T c.*275G>T (n.*275G>T) c.491G>T (p.Gly164Val) n.572G>T | |
| 19 | g.7933960C>G | CA403699871 | TIMM44 | c.587G>C (p.Gly196Ala) c.574G>C c.*275G>C (n.*275G>C) c.491G>C (p.Gly164Ala) n.572G>C | |
| 19 | g.7933960C>T | CA403699874 | TIMM44 | c.587G>A (p.Gly196Glu) c.574G>A c.*275G>A (n.*275G>A) c.491G>A (p.Gly164Glu) n.572G>A | |
| 19 | g.7933961C>A | CA403699878 | TIMM44 | c.586G>T (p.Gly196Ter) c.573G>T c.*274G>T (n.*274G>T) c.490G>T (p.Gly164Ter) n.571G>T | |
| 19 | g.7933961C>G | CA403699879 | TIMM44 | c.586G>C (p.Gly196Arg) c.573G>C c.*274G>C (n.*274G>C) c.490G>C (p.Gly164Arg) n.571G>C | |
| 19 | g.7933961C>T | CA403699880 | TIMM44 | c.586G>A (p.Gly196Arg) c.573G>A c.*274G>A (n.*274G>A) c.490G>A (p.Gly164Arg) n.571G>A | gnomAD v4 |
| 19 | g.7933962C>A | CA505415592 | TIMM44 | c.585G>T (p.Leu195=) c.572G>T c.*273G>T (n.*273G>T) c.489G>T (p.Leu163=) n.570G>T | |
| 19 | g.7933962C= | CA2321169217 | TIMM44 | c.585G= (p.Leu195=) c.572G= c.*273G= (n.*273G=) c.489G= (p.Leu163=) n.570G= | |
| 19 | g.7933962C>G | CA505415593 | TIMM44 | c.585G>C (p.Leu195=) c.572G>C c.*273G>C (n.*273G>C) c.489G>C (p.Leu163=) n.570G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933962C>T | CA505415594 | TIMM44 | c.585G>A (p.Leu195=) c.572G>A c.*273G>A (n.*273G>A) c.489G>A (p.Leu163=) n.570G>A | |
| 19 | g.7933963A= | CA2321169218 | TIMM44 | c.584T= (p.Leu195=) c.571T= c.*272T= (n.*272T=) c.488T= (p.Leu163=) n.569T= | |
| 19 | g.7933963A>C | CA403699881 | TIMM44 | c.584T>G (p.Leu195Arg) c.571T>G c.*272T>G (n.*272T>G) c.488T>G (p.Leu163Arg) n.569T>G | |
| 19 | g.7933963A>G | CA403699883 | TIMM44 | c.584T>C (p.Leu195Pro) c.571T>C c.*272T>C (n.*272T>C) c.488T>C (p.Leu163Pro) n.569T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933963A>T | CA403699887 | TIMM44 | c.584T>A (p.Leu195Gln) c.571T>A c.*272T>A (n.*272T>A) c.488T>A (p.Leu163Gln) n.569T>A | |
| 19 | g.7933964G>A | CA505415595 | TIMM44 | c.583C>T (p.Leu195=) c.570C>T c.*271C>T (n.*271C>T) c.487C>T (p.Leu163=) n.568C>T | |
| 19 | g.7933964G>C | CA403699888 | TIMM44 | c.583C>G (p.Leu195Val) c.570C>G c.*271C>G (n.*271C>G) c.487C>G (p.Leu163Val) n.568C>G | |
| 19 | g.7933964G>T | CA403699891 | TIMM44 | c.583C>A (p.Leu195Met) c.570C>A c.*271C>A (n.*271C>A) c.487C>A (p.Leu163Met) n.568C>A | |
| 19 | g.7933965G>A | CA505415597 | TIMM44 | c.582C>T (p.Val194=) c.569C>T c.*270C>T (n.*270C>T) c.486C>T (p.Val162=) n.567C>T | |
| 19 | g.7933965G>C | CA505415599 | TIMM44 | c.582C>G (p.Val194=) c.569C>G c.*270C>G (n.*270C>G) c.486C>G (p.Val162=) n.567C>G | |
| 19 | g.7933965G>T | CA505415598 | TIMM44 | c.582C>A (p.Val194=) c.569C>A c.*270C>A (n.*270C>A) c.486C>A (p.Val162=) n.567C>A | |
| 19 | g.7933966A>C | CA403699897 | TIMM44 | c.581T>G (p.Val194Gly) c.568T>G c.*269T>G (n.*269T>G) c.485T>G (p.Val162Gly) n.566T>G | |
| 19 | g.7933966A>G | CA403699900 | TIMM44 | c.581T>C (p.Val194Ala) c.568T>C c.*269T>C (n.*269T>C) c.485T>C (p.Val162Ala) n.566T>C | gnomAD v4 |
| 19 | g.7933966A>T | CA403699895 | TIMM44 | c.581T>A (p.Val194Asp) c.568T>A c.*269T>A (n.*269T>A) c.485T>A (p.Val162Asp) n.566T>A | |
| 19 | g.7933967C>A | CA304925577 | TIMM44 | c.580G>T (p.Val194Phe) c.567G>T c.*268G>T (n.*268G>T) c.484G>T (p.Val162Phe) n.565G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7933967C= | CA2321169219 | TIMM44 | c.580G= (p.Val194=) c.567G= c.*268G= (n.*268G=) c.484G= (p.Val162=) n.565G= | |
| 19 | g.7933967C>G | CA403699906 | TIMM44 | c.580G>C (p.Val194Leu) c.567G>C c.*268G>C (n.*268G>C) c.484G>C (p.Val162Leu) n.565G>C | |
| 19 | g.7933967C>T | CA322681 | TIMM44 | c.580G>A (p.Val194Ile) c.567G>A c.*268G>A (n.*268G>A) c.484G>A (p.Val162Ile) n.565G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933968G>A | CA9149796 | TIMM44 | c.579C>T (p.Ser193=) c.566C>T c.*267C>T (n.*267C>T) c.483C>T (p.Ser161=) n.564C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933968G>C | CA403699929 | TIMM44 | c.579C>G (p.Ser193Arg) c.566C>G c.*267C>G (n.*267C>G) c.483C>G (p.Ser161Arg) n.564C>G | |
| 19 | g.7933968G= | CA2321169220 | TIMM44 | c.579C= (p.Ser193=) c.566C= c.*267C= (n.*267C=) c.483C= (p.Ser161=) n.564C= | |
| 19 | g.7933968G>T | CA403699931 | TIMM44 | c.579C>A (p.Ser193Arg) c.566C>A c.*267C>A (n.*267C>A) c.483C>A (p.Ser161Arg) n.564C>A | |
| 19 | g.7933969C>A | CA403699943 | TIMM44 | c.578G>T (p.Ser193Ile) c.565G>T c.*266G>T (n.*266G>T) c.482G>T (p.Ser161Ile) n.563G>T | |
| 19 | g.7933969C>G | CA403699936 | TIMM44 | c.578G>C (p.Ser193Thr) c.565G>C c.*266G>C (n.*266G>C) c.482G>C (p.Ser161Thr) n.563G>C | |
| 19 | g.7933969C>T | CA403699939 | TIMM44 | c.578G>A (p.Ser193Asn) c.565G>A c.*266G>A (n.*266G>A) c.482G>A (p.Ser161Asn) n.563G>A | |
| 19 | g.7933970T>A | CA9149797 | TIMM44 | c.577A>T (p.Ser193Cys) c.564A>T c.*265A>T (n.*265A>T) c.481A>T (p.Ser161Cys) n.562A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933970T>C | CA403699950 | TIMM44 | c.577A>G (p.Ser193Gly) c.564A>G c.*265A>G (n.*265A>G) c.481A>G (p.Ser161Gly) n.562A>G | |
| 19 | g.7933970T>G | CA403699951 | TIMM44 | c.577A>C (p.Ser193Arg) c.564A>C c.*265A>C (n.*265A>C) c.481A>C (p.Ser161Arg) n.562A>C | |
| 19 | g.7933970T= | CA2321169221 | TIMM44 | c.577A= (p.Ser193=) c.564A= c.*265A= (n.*265A=) c.481A= (p.Ser161=) n.562A= | |
| 19 | g.7933971G>A | CA505415604 | TIMM44 | c.576C>T (p.Asp192=) c.563C>T c.*264C>T (n.*264C>T) c.480C>T (p.Asp160=) n.561C>T | |
| 19 | g.7933971G>C | CA403699953 | TIMM44 | c.576C>G (p.Asp192Glu) c.563C>G c.*264C>G (n.*264C>G) c.480C>G (p.Asp160Glu) n.561C>G | |
| 19 | g.7933971G>T | CA403699954 | TIMM44 | c.576C>A (p.Asp192Glu) c.563C>A c.*264C>A (n.*264C>A) c.480C>A (p.Asp160Glu) n.561C>A | |
| 19 | g.7933972T>A | CA403699961 | TIMM44 | c.575A>T (p.Asp192Val) c.562A>T c.*263A>T (n.*263A>T) c.479A>T (p.Asp160Val) n.560A>T | |
| 19 | g.7933972T>C | CA403699958 | TIMM44 | c.575A>G (p.Asp192Gly) c.562A>G c.*263A>G (n.*263A>G) c.479A>G (p.Asp160Gly) n.560A>G | |
| 19 | g.7933972T>G | CA403699960 | TIMM44 | c.575A>C (p.Asp192Ala) c.562A>C c.*263A>C (n.*263A>C) c.479A>C (p.Asp160Ala) n.560A>C | |
| 19 | g.7933973C>A | CA403699966 | TIMM44 | c.574G>T (p.Asp192Tyr) c.561G>T c.*262G>T (n.*262G>T) c.478G>T (p.Asp160Tyr) n.559G>T | |
| 19 | g.7933973C= | CA2321169222 | TIMM44 | c.574G= (p.Asp192=) c.561G= c.*262G= (n.*262G=) c.478G= (p.Asp160=) n.559G= | |
| 19 | g.7933973C>G | CA403699970 | TIMM44 | c.574G>C (p.Asp192His) c.561G>C c.*262G>C (n.*262G>C) c.478G>C (p.Asp160His) n.559G>C | gnomAD v4 |
| 19 | g.7933973C>T | CA9149798 | TIMM44 | c.574G>A (p.Asp192Asn) c.561G>A c.*262G>A (n.*262G>A) c.478G>A (p.Asp160Asn) n.559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933974G>A | CA291286 | TIMM44 | c.573C>T (p.Asp191=) c.560C>T c.*261C>T (n.*261C>T) c.477C>T (p.Asp159=) n.558C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933974G>C | CA403699977 | TIMM44 | c.573C>G (p.Asp191Glu) c.560C>G c.*261C>G (n.*261C>G) c.477C>G (p.Asp159Glu) n.558C>G | |
| 19 | g.7933974G= | CA2321169223 | TIMM44 | c.573C= (p.Asp191=) c.560C= c.*261C= (n.*261C=) c.477C= (p.Asp159=) n.558C= | |
| 19 | g.7933974G>T | CA403699981 | TIMM44 | c.573C>A (p.Asp191Glu) c.560C>A c.*261C>A (n.*261C>A) c.477C>A (p.Asp159Glu) n.558C>A | gnomAD v4 |
| 19 | g.7933975T>A | CA403699985 | TIMM44 | c.572A>T (p.Asp191Val) c.559A>T c.*260A>T (n.*260A>T) c.476A>T (p.Asp159Val) n.557A>T | |
| 19 | g.7933975T>C | CA403699987 | TIMM44 | c.572A>G (p.Asp191Gly) c.559A>G c.*260A>G (n.*260A>G) c.476A>G (p.Asp159Gly) n.557A>G | |
| 19 | g.7933975T>G | CA403699989 | TIMM44 | c.572A>C (p.Asp191Ala) c.559A>C c.*260A>C (n.*260A>C) c.476A>C (p.Asp159Ala) n.557A>C | |
| 19 | g.7933976C>A | CA403699992 | TIMM44 | c.571G>T (p.Asp191Tyr) c.558G>T c.*259G>T (n.*259G>T) c.475G>T (p.Asp159Tyr) n.556G>T | |
| 19 | g.7933976C>G | CA403699996 | TIMM44 | c.571G>C (p.Asp191His) c.558G>C c.*259G>C (n.*259G>C) c.475G>C (p.Asp159His) n.556G>C | dbSNP |
| 19 | g.7933976C>T | CA403699998 | TIMM44 | c.571G>A (p.Asp191Asn) c.558G>A c.*259G>A (n.*259G>A) c.475G>A (p.Asp159Asn) n.556G>A | COSMIC |
| 19 | g.7933977A>C | CA403700001 | TIMM44 | c.570T>G (p.Ile190Met) c.557T>G c.*258T>G (n.*258T>G) c.474T>G (p.Ile158Met) n.555T>G | |
| 19 | g.7933977A>G | CA505415610 | TIMM44 | c.570T>C (p.Ile190=) c.557T>C c.*258T>C (n.*258T>C) c.474T>C (p.Ile158=) n.555T>C | gnomAD v4 |
| 19 | g.7933977A>T | CA505415612 | TIMM44 | c.570T>A (p.Ile190=) c.557T>A c.*258T>A (n.*258T>A) c.474T>A (p.Ile158=) n.555T>A | |
| 19 | g.7933978A>C | CA403700005 | TIMM44 | c.569T>G (p.Ile190Ser) c.556T>G c.*257T>G (n.*257T>G) c.473T>G (p.Ile158Ser) n.554T>G | |
| 19 | g.7933978A>G | CA403700011 | TIMM44 | c.569T>C (p.Ile190Thr) c.556T>C c.*257T>C (n.*257T>C) c.473T>C (p.Ile158Thr) n.554T>C | gnomAD v4 |
| 19 | g.7933978A>T | CA403700009 | TIMM44 | c.569T>A (p.Ile190Asn) c.556T>A c.*257T>A (n.*257T>A) c.473T>A (p.Ile158Asn) n.554T>A | |
| 19 | g.7933979T>A | CA403700015 | TIMM44 | c.568A>T (p.Ile190Phe) c.555A>T c.*256A>T (n.*256A>T) c.472A>T (p.Ile158Phe) n.553A>T | |
| 19 | g.7933979T>C | CA403700018 | TIMM44 | c.568A>G (p.Ile190Val) c.555A>G c.*256A>G (n.*256A>G) c.472A>G (p.Ile158Val) n.553A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933979T>G | CA403700021 | TIMM44 | c.568A>C (p.Ile190Leu) c.555A>C c.*256A>C (n.*256A>C) c.472A>C (p.Ile158Leu) n.553A>C | |
| 19 | g.7933979T= | CA2321169224 | TIMM44 | c.568A= (p.Ile190=) c.555A= c.*256A= (n.*256A=) c.472A= (p.Ile158=) n.553A= | |
| 19 | g.7933980T>A | CA403700023 | TIMM44 | c.567A>T (p.Glu189Asp) c.554A>T c.*255A>T (n.*255A>T) c.471A>T (p.Glu157Asp) n.552A>T | |
| 19 | g.7933980T>C | CA505415613 | TIMM44 | c.567A>G (p.Glu189=) c.554A>G c.*255A>G (n.*255A>G) c.471A>G (p.Glu157=) n.552A>G | |
| 19 | g.7933980T>G | CA403700026 | TIMM44 | c.567A>C (p.Glu189Asp) c.554A>C c.*255A>C (n.*255A>C) c.471A>C (p.Glu157Asp) n.552A>C | |
| 19 | g.7933981T>A | CA403700031 | TIMM44 | c.566A>T (p.Glu189Val) c.553A>T c.*254A>T (n.*254A>T) c.470A>T (p.Glu157Val) n.551A>T | |
| 19 | g.7933981T>C | CA403700034 | TIMM44 | c.566A>G (p.Glu189Gly) c.553A>G c.*254A>G (n.*254A>G) c.470A>G (p.Glu157Gly) n.551A>G | dbSNP |
| 19 | g.7933981T>G | CA403700037 | TIMM44 | c.566A>C (p.Glu189Ala) c.553A>C c.*254A>C (n.*254A>C) c.470A>C (p.Glu157Ala) n.551A>C | |
| 19 | g.7933981T= | CA2321169225 | TIMM44 | c.566A= (p.Glu189=) c.553A= c.*254A= (n.*254A=) c.470A= (p.Glu157=) n.551A= | |
| 19 | g.7933982C>A | CA403700040 | TIMM44 | c.565G>T (p.Glu189Ter) c.552G>T c.*253G>T (n.*253G>T) c.469G>T (p.Glu157Ter) n.550G>T | |
| 19 | g.7933982C>G | CA403700043 | TIMM44 | c.565G>C (p.Glu189Gln) c.552G>C c.*253G>C (n.*253G>C) c.469G>C (p.Glu157Gln) n.550G>C | |
| 19 | g.7933982C>T | CA403700045 | TIMM44 | c.565G>A (p.Glu189Lys) c.552G>A c.*253G>A (n.*253G>A) c.469G>A (p.Glu157Lys) n.550G>A | |
| 19 | g.7933983C>A | CA403700048 | TIMM44 | c.564G>T (p.Lys188Asn) c.551G>T c.*252G>T (n.*252G>T) c.468G>T (p.Lys156Asn) n.549G>T | |
| 19 | g.7933983C>G | CA403700051 | TIMM44 | c.564G>C (p.Lys188Asn) c.551G>C c.*252G>C (n.*252G>C) c.468G>C (p.Lys156Asn) n.549G>C | |
| 19 | g.7933983C>T | CA505415618 | TIMM44 | c.564G>A (p.Lys188=) c.551G>A c.*252G>A (n.*252G>A) c.468G>A (p.Lys156=) n.549G>A | |
| 19 | g.7933984T>A | CA403700060 | TIMM44 | c.563A>T (p.Lys188Met) c.550A>T c.*251A>T (n.*251A>T) c.467A>T (p.Lys156Met) n.548A>T | |
| 19 | g.7933984T>C | CA403700055 | TIMM44 | c.563A>G (p.Lys188Arg) c.550A>G c.*251A>G (n.*251A>G) c.467A>G (p.Lys156Arg) n.548A>G | |
| 19 | g.7933984T>G | CA403700058 | TIMM44 | c.563A>C (p.Lys188Thr) c.550A>C c.*251A>C (n.*251A>C) c.467A>C (p.Lys156Thr) n.548A>C | |
| 19 | g.7933985T>A | CA403700065 | TIMM44 | c.562A>T (p.Lys188Ter) c.549A>T c.*250A>T (n.*250A>T) c.466A>T (p.Lys156Ter) n.547A>T | |
| 19 | g.7933985T>C | CA403700067 | TIMM44 | c.562A>G (p.Lys188Glu) c.549A>G c.*250A>G (n.*250A>G) c.466A>G (p.Lys156Glu) n.547A>G | |
| 19 | g.7933985T>G | CA403700070 | TIMM44 | c.562A>C (p.Lys188Gln) c.549A>C c.*250A>C (n.*250A>C) c.466A>C (p.Lys156Gln) n.547A>C | |
| 19 | g.7933986C>A | CA403700073 | TIMM44 | c.561G>T (p.Lys187Asn) c.548G>T c.*249G>T (n.*249G>T) c.465G>T (p.Lys155Asn) n.546G>T | |
| 19 | g.7933986C= | CA2321169226 | TIMM44 | c.561G= (p.Lys187=) c.548G= c.*249G= (n.*249G=) c.465G= (p.Lys155=) n.546G= | |
| 19 | g.7933986C>G | CA403700075 | TIMM44 | c.561G>C (p.Lys187Asn) c.548G>C c.*249G>C (n.*249G>C) c.465G>C (p.Lys155Asn) n.546G>C | |
| 19 | g.7933986C>T | CA505415622 | TIMM44 | c.561G>A (p.Lys187=) c.548G>A c.*249G>A (n.*249G>A) c.465G>A (p.Lys155=) n.546G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933987T>A | CA403700078 | TIMM44 | c.560A>T (p.Lys187Met) c.547A>T c.*248A>T (n.*248A>T) c.464A>T (p.Lys155Met) n.545A>T | |
| 19 | g.7933987T>C | CA9149799 | TIMM44 | c.560A>G (p.Lys187Arg) c.547A>G c.*248A>G (n.*248A>G) c.464A>G (p.Lys155Arg) n.545A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7933987T>G | CA403700083 | TIMM44 | c.560A>C (p.Lys187Thr) c.547A>C c.*248A>C (n.*248A>C) c.464A>C (p.Lys155Thr) n.545A>C | |
| 19 | g.7933987T= | CA2321169227 | TIMM44 | c.560A= (p.Lys187=) c.547A= c.*248A= (n.*248A=) c.464A= (p.Lys155=) n.545A= | |
| 19 | g.7933988T>A | CA403700088 | TIMM44 | c.559A>T (p.Lys187Ter) c.546A>T c.*247A>T (n.*247A>T) c.463A>T (p.Lys155Ter) n.544A>T | |
| 19 | g.7933988T>C | CA403700093 | TIMM44 | c.559A>G (p.Lys187Glu) c.546A>G c.*247A>G (n.*247A>G) c.463A>G (p.Lys155Glu) n.544A>G | |
| 19 | g.7933988T>G | CA403700096 | TIMM44 | c.559A>C (p.Lys187Gln) c.546A>C c.*247A>C (n.*247A>C) c.463A>C (p.Lys155Gln) n.544A>C | |
| 19 | g.7933989C>A | CA505415625 | TIMM44 | c.558G>T (p.Val186=) c.545G>T c.*246G>T (n.*246G>T) c.462G>T (p.Val154=) n.543G>T | |
| 19 | g.7933989C>G | CA505415627 | TIMM44 | c.558G>C (p.Val186=) c.545G>C c.*246G>C (n.*246G>C) c.462G>C (p.Val154=) n.543G>C | |
| 19 | g.7933989C>T | CA505415628 | TIMM44 | c.558G>A (p.Val186=) c.545G>A c.*246G>A (n.*246G>A) c.462G>A (p.Val154=) n.543G>A | |
| 19 | g.7933990A>C | CA403700104 | TIMM44 | c.557T>G (p.Val186Gly) c.544T>G c.*245T>G (n.*245T>G) c.461T>G (p.Val154Gly) n.542T>G | |
| 19 | g.7933990A>G | CA403700101 | TIMM44 | c.557T>C (p.Val186Ala) c.544T>C c.*245T>C (n.*245T>C) c.461T>C (p.Val154Ala) n.542T>C | |
| 19 | g.7933990A>T | CA403700098 | TIMM44 | c.557T>A (p.Val186Glu) c.544T>A c.*245T>A (n.*245T>A) c.461T>A (p.Val154Glu) n.542T>A | |
| 19 | g.7933991C>A | CA403700109 | TIMM44 | c.556G>T (p.Val186Leu) c.543G>T c.*244G>T (n.*244G>T) c.460G>T (p.Val154Leu) n.541G>T | |
| 19 | g.7933991C= | CA2321169228 | TIMM44 | c.556G= (p.Val186=) c.543G= c.*244G= (n.*244G=) c.460G= (p.Val154=) n.541G= | |
| 19 | g.7933991C>G | CA403700113 | TIMM44 | c.556G>C (p.Val186Leu) c.543G>C c.*244G>C (n.*244G>C) c.460G>C (p.Val154Leu) n.541G>C | |
| 19 | g.7933991C>T | CA403700111 | TIMM44 | c.556G>A (p.Val186Met) c.543G>A c.*244G>A (n.*244G>A) c.460G>A (p.Val154Met) n.541G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933992G>A | CA9149800 | TIMM44 | c.555C>T (p.Ser185=) c.542C>T c.*243C>T (n.*243C>T) c.459C>T (p.Ser153=) n.540C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7933992G>C | CA505415630 | TIMM44 | c.555C>G (p.Ser185=) c.542C>G c.*243C>G (n.*243C>G) c.459C>G (p.Ser153=) n.540C>G | |
| 19 | g.7933992G= | CA2321169229 | TIMM44 | c.555C= (p.Ser185=) c.542C= c.*243C= (n.*243C=) c.459C= (p.Ser153=) n.540C= | |
| 19 | g.7933992G>T | CA505415632 | TIMM44 | c.555C>A (p.Ser185=) c.542C>A c.*243C>A (n.*243C>A) c.459C>A (p.Ser153=) n.540C>A | |
| 19 | g.7933993G>A | CA403700117 | TIMM44 | c.554C>T (p.Ser185Phe) c.541C>T c.*242C>T (n.*242C>T) c.458C>T (p.Ser153Phe) n.539C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7933993G>C | CA403700115 | TIMM44 | c.554C>G (p.Ser185Cys) c.541C>G c.*242C>G (n.*242C>G) c.458C>G (p.Ser153Cys) n.539C>G | |
| 19 | g.7933993G= | CA2321169230 | TIMM44 | c.554C= (p.Ser185=) c.541C= c.*242C= (n.*242C=) c.458C= (p.Ser153=) n.539C= | |
| 19 | g.7933993G>T | CA403700116 | TIMM44 | c.554C>A (p.Ser185Tyr) c.541C>A c.*242C>A (n.*242C>A) c.458C>A (p.Ser153Tyr) n.539C>A | |
| 19 | g.7933994A>C | CA403700118 | TIMM44 | c.553T>G (p.Ser185Ala) c.540T>G c.*241T>G (n.*241T>G) c.457T>G (p.Ser153Ala) n.538T>G | gnomAD v4 |
| 19 | g.7933994A>G | CA403700120 | TIMM44 | c.553T>C (p.Ser185Pro) c.540T>C c.*241T>C (n.*241T>C) c.457T>C (p.Ser153Pro) n.538T>C | |
| 19 | g.7933994A>T | CA403700121 | TIMM44 | c.553T>A (p.Ser185Thr) c.540T>A c.*241T>A (n.*241T>A) c.457T>A (p.Ser153Thr) n.538T>A | |
| 19 | g.7933995C>A | CA403700124 | TIMM44 | c.552G>T (p.Glu184Asp) c.539G>T c.*240G>T (n.*240G>T) c.456G>T (p.Glu152Asp) n.537G>T | |
| 19 | g.7933995C>G | CA403700126 | TIMM44 | c.552G>C (p.Glu184Asp) c.539G>C c.*240G>C (n.*240G>C) c.456G>C (p.Glu152Asp) n.537G>C | |
| 19 | g.7933995C>T | CA505415634 | TIMM44 | c.552G>A (p.Glu184=) c.539G>A c.*240G>A (n.*240G>A) c.456G>A (p.Glu152=) n.537G>A | |
| 19 | g.7933996T>A | CA403700128 | TIMM44 | c.551A>T (p.Glu184Val) c.538A>T c.*239A>T (n.*239A>T) c.455A>T (p.Glu152Val) n.536A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7933996T>C | CA403700131 | TIMM44 | c.551A>G (p.Glu184Gly) c.538A>G c.*239A>G (n.*239A>G) c.455A>G (p.Glu152Gly) n.536A>G | |
| 19 | g.7933996T>G | CA403700133 | TIMM44 | c.551A>C (p.Glu184Ala) c.538A>C c.*239A>C (n.*239A>C) c.455A>C (p.Glu152Ala) n.536A>C | |
| 19 | g.7933996T= | CA2321169231 | TIMM44 | c.551A= (p.Glu184=) c.538A= c.*239A= (n.*239A=) c.455A= (p.Glu152=) n.536A= | |
| 19 | g.7933997C>A | CA403700135 | TIMM44 | c.550G>T (p.Glu184Ter) c.537G>T c.*238G>T (n.*238G>T) c.454G>T (p.Glu152Ter) n.535G>T | COSMIC |
| 19 | g.7933997C>G | CA403700137 | TIMM44 | c.550G>C (p.Glu184Gln) c.537G>C c.*238G>C (n.*238G>C) c.454G>C (p.Glu152Gln) n.535G>C | |
| 19 | g.7933997C>T | CA403700139 | TIMM44 | c.550G>A (p.Glu184Lys) c.537G>A c.*238G>A (n.*238G>A) c.454G>A (p.Glu152Lys) n.535G>A | |
| 19 | g.7933998C>A | CA505415637 | TIMM44 | c.549G>T (p.Val183=) c.536G>T c.*237G>T (n.*237G>T) c.453G>T (p.Val151=) n.534G>T | COSMIC |
| 19 | g.7933998C>G | CA505415638 | TIMM44 | c.549G>C (p.Val183=) c.536G>C c.*237G>C (n.*237G>C) c.453G>C (p.Val151=) n.534G>C | |
| 19 | g.7933998C>T | CA505415639 | TIMM44 | c.549G>A (p.Val183=) c.536G>A c.*237G>A (n.*237G>A) c.453G>A (p.Val151=) n.534G>A | |
| 19 | g.7933999A>C | CA403700141 | TIMM44 | c.548T>G (p.Val183Gly) c.535T>G c.*236T>G (n.*236T>G) c.452T>G (p.Val151Gly) n.533T>G | |
| 19 | g.7933999A>G | CA403700143 | TIMM44 | c.548T>C (p.Val183Ala) c.535T>C c.*236T>C (n.*236T>C) c.452T>C (p.Val151Ala) n.533T>C | |
| 19 | g.7933999A>T | CA403700142 | TIMM44 | c.548T>A (p.Val183Glu) c.535T>A c.*236T>A (n.*236T>A) c.452T>A (p.Val151Glu) n.533T>A | |
| 19 | g.7933999_7934000delinsAC | CA2321169232 | TIMM44 | c.547_548delinsGT (p.Val183=) c.534_535delinsGT c.*235_*236delinsGT (n.*235_*236delinsGT) c.451_452delinsGT (p.Val151=) n.532_533delinsGT | |
| 19 | g.7934000C>A | CA403700144 | TIMM44 | c.547G>T (p.Val183Leu) c.534G>T c.*235G>T (n.*235G>T) c.451G>T (p.Val151Leu) n.532G>T | dbSNP |
| 19 | g.7934000C= | CA2321169233 | TIMM44 | c.547G= (p.Val183=) c.534G= c.*235G= (n.*235G=) c.451G= (p.Val151=) n.532G= | |
| 19 | g.7934000C>G | CA403700145 | TIMM44 | c.547G>C (p.Val183Leu) c.534G>C c.*235G>C (n.*235G>C) c.451G>C (p.Val151Leu) n.532G>C | |
| 19 | g.7934000C>T | CA9149801 | TIMM44 | c.547G>A (p.Val183Met) c.534G>A c.*235G>A (n.*235G>A) c.451G>A (p.Val151Met) n.532G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7934004del | CA631703138 | TIMM44 | c.547del c.534del c.*235del c.451del n.532del | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.7934001C>A | CA505415679 | TIMM44 | c.546G>T (p.Gly182=) c.533G>T c.*234G>T (n.*234G>T) c.450G>T (p.Gly150=) n.531G>T | dbSNP gnomAD v4 |
| 19 | g.7934001C= | CA2321169234 | TIMM44 | c.546G= (p.Gly182=) c.533G= c.*234G= (n.*234G=) c.450G= (p.Gly150=) n.531G= | |
| 19 | g.7934001C>G | CA9149802 | TIMM44 | c.546G>C (p.Gly182=) c.533G>C c.*234G>C (n.*234G>C) c.450G>C (p.Gly150=) n.531G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7934001C>T | CA505415678 | TIMM44 | c.546G>A (p.Gly182=) c.533G>A c.*234G>A (n.*234G>A) c.450G>A (p.Gly150=) n.531G>A | gnomAD v4 |
| 19 | g.7934002C>A | CA403700146 | TIMM44 | c.545G>T (p.Gly182Val) c.532G>T c.*233G>T (n.*233G>T) c.449G>T (p.Gly150Val) n.530G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7934002C= | CA2321169235 | TIMM44 | c.545G= (p.Gly182=) c.532G= c.*233G= (n.*233G=) c.449G= (p.Gly150=) n.530G= | |
| 19 | g.7934002C>G | CA403700147 | TIMM44 | c.545G>C (p.Gly182Ala) c.532G>C c.*233G>C (n.*233G>C) c.449G>C (p.Gly150Ala) n.530G>C | |
| 19 | g.7934002C>T | CA403700148 | TIMM44 | c.545G>A (p.Gly182Glu) c.532G>A c.*233G>A (n.*233G>A) c.449G>A (p.Gly150Glu) n.530G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7934003C>A | CA403700149 | TIMM44 | c.544G>T (p.Gly182Trp) c.531G>T c.*232G>T (n.*232G>T) c.448G>T (p.Gly150Trp) n.529G>T | gnomAD v4 |
| 19 | g.7934003C>G | CA403700150 | TIMM44 | c.544G>C (p.Gly182Arg) c.531G>C c.*232G>C (n.*232G>C) c.448G>C (p.Gly150Arg) n.529G>C | gnomAD v4 |
| 19 | g.7934003C>T | CA403700151 | TIMM44 | c.544G>A (p.Gly182Arg) c.531G>A c.*232G>A (n.*232G>A) c.448G>A (p.Gly150Arg) n.529G>A | gnomAD v4 |