| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.88731756T>A | CA445369784 | MEF2C | c.405A>T (p.Pro135=) c.783A>T (p.Pro261=) n.720A>T c.774A>T (p.Pro258=) c.837A>T (p.Pro279=) c.777A>T (p.Pro259=) n.201A>T c.639A>T (p.Pro213=) c.72A>T (p.Pro24=) c.192A>T (p.Pro64=) c.357A>T (p.Pro119=) | |
| 5 | g.88731756T>C | CA445369786 | MEF2C | c.405A>G (p.Pro135=) c.783A>G (p.Pro261=) n.720A>G c.774A>G (p.Pro258=) c.837A>G (p.Pro279=) c.777A>G (p.Pro259=) n.201A>G c.639A>G (p.Pro213=) c.72A>G (p.Pro24=) c.192A>G (p.Pro64=) c.357A>G (p.Pro119=) | gnomAD v4 |
| 5 | g.88731756T>G | CA445369787 | MEF2C | c.405A>C (p.Pro135=) c.783A>C (p.Pro261=) n.720A>C c.774A>C (p.Pro258=) c.837A>C (p.Pro279=) c.777A>C (p.Pro259=) n.201A>C c.639A>C (p.Pro213=) c.72A>C (p.Pro24=) c.192A>C (p.Pro64=) c.357A>C (p.Pro119=) | |
| 5 | g.88731757G>A | CA360423209 | MEF2C | c.404C>T (p.Pro135Leu) c.782C>T (p.Pro261Leu) n.719C>T c.773C>T (p.Pro258Leu) c.836C>T (p.Pro279Leu) c.776C>T (p.Pro259Leu) n.200C>T c.638C>T (p.Pro213Leu) c.71C>T (p.Pro24Leu) c.191C>T (p.Pro64Leu) c.356C>T (p.Pro119Leu) | |
| 5 | g.88731757G>C | CA360423210 | MEF2C | c.404C>G (p.Pro135Arg) c.782C>G (p.Pro261Arg) n.719C>G c.773C>G (p.Pro258Arg) c.836C>G (p.Pro279Arg) c.776C>G (p.Pro259Arg) n.200C>G c.638C>G (p.Pro213Arg) c.71C>G (p.Pro24Arg) c.191C>G (p.Pro64Arg) c.356C>G (p.Pro119Arg) | |
| 5 | g.88731757G>T | CA360423211 | MEF2C | c.404C>A (p.Pro135Gln) c.782C>A (p.Pro261Gln) n.719C>A c.773C>A (p.Pro258Gln) c.836C>A (p.Pro279Gln) c.776C>A (p.Pro259Gln) n.200C>A c.638C>A (p.Pro213Gln) c.71C>A (p.Pro24Gln) c.191C>A (p.Pro64Gln) c.356C>A (p.Pro119Gln) | |
| 5 | g.88731758G>A | CA360423213 | MEF2C | c.403C>T (p.Pro135Ser) c.781C>T (p.Pro261Ser) n.718C>T c.772C>T (p.Pro258Ser) c.835C>T (p.Pro279Ser) c.775C>T (p.Pro259Ser) n.199C>T c.637C>T (p.Pro213Ser) c.70C>T (p.Pro24Ser) c.190C>T (p.Pro64Ser) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v4 |
| 5 | g.88731758G>C | CA360423214 | MEF2C | c.403C>G (p.Pro135Ala) c.781C>G (p.Pro261Ala) n.718C>G c.772C>G (p.Pro258Ala) c.835C>G (p.Pro279Ala) c.775C>G (p.Pro259Ala) n.199C>G c.637C>G (p.Pro213Ala) c.70C>G (p.Pro24Ala) c.190C>G (p.Pro64Ala) c.355C>G (p.Pro119Ala) | |
| 5 | g.88731758G= | CA1562203606 | MEF2C | c.403C= (p.Pro135=) c.781C= (p.Pro261=) n.718C= c.772C= (p.Pro258=) c.835C= (p.Pro279=) c.775C= (p.Pro259=) n.199C= c.637C= (p.Pro213=) c.70C= (p.Pro24=) c.190C= (p.Pro64=) c.355C= (p.Pro119=) | |
| 5 | g.88731758G>T | CA360423212 | MEF2C | c.403C>A (p.Pro135Thr) c.781C>A (p.Pro261Thr) n.718C>A c.772C>A (p.Pro258Thr) c.835C>A (p.Pro279Thr) c.775C>A (p.Pro259Thr) n.199C>A c.637C>A (p.Pro213Thr) c.70C>A (p.Pro24Thr) c.190C>A (p.Pro64Thr) c.355C>A (p.Pro119Thr) | |
| 5 | g.88731759T>A | CA445369793 | MEF2C | c.402A>T (p.Pro134=) c.780A>T (p.Pro260=) n.717A>T c.771A>T (p.Pro257=) c.834A>T (p.Pro278=) c.774A>T (p.Pro258=) n.198A>T c.636A>T (p.Pro212=) c.69A>T (p.Pro23=) c.189A>T (p.Pro63=) c.354A>T (p.Pro118=) | |
| 5 | g.88731759T>C | CA3337252 | MEF2C | c.402A>G (p.Pro134=) c.780A>G (p.Pro260=) n.717A>G c.771A>G (p.Pro257=) c.834A>G (p.Pro278=) c.774A>G (p.Pro258=) n.198A>G c.636A>G (p.Pro212=) c.69A>G (p.Pro23=) c.189A>G (p.Pro63=) c.354A>G (p.Pro118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.88731759T>G | CA445369795 | MEF2C | c.402A>C (p.Pro134=) c.780A>C (p.Pro260=) n.717A>C c.771A>C (p.Pro257=) c.834A>C (p.Pro278=) c.774A>C (p.Pro258=) n.198A>C c.636A>C (p.Pro212=) c.69A>C (p.Pro23=) c.189A>C (p.Pro63=) c.354A>C (p.Pro118=) | |
| 5 | g.88731759T= | CA1562203607 | MEF2C | c.402A= (p.Pro134=) c.780A= (p.Pro260=) n.717A= c.771A= (p.Pro257=) c.834A= (p.Pro278=) c.774A= (p.Pro258=) n.198A= c.636A= (p.Pro212=) c.69A= (p.Pro23=) c.189A= (p.Pro63=) c.354A= (p.Pro118=) | |
| 5 | g.88731759dup | CA891843147 | MEF2C | c.402dup (p.Pro135ThrfsTer12) c.780dup (p.Pro261ThrfsTer12) n.717dup c.771dup (p.Pro258ThrfsTer16) c.834dup (p.Pro279ThrfsTer16) c.774dup (p.Pro259ThrfsTer16) c.780dup (p.Pro261ThrfsTer16) n.198dup c.774dup (p.Pro259ThrfsTer12) c.636dup (p.Pro213ThrfsTer12) c.69dup (p.Pro24ThrfsTer12) c.189dup (p.Pro64ThrfsTer16) c.636dup (p.Pro213ThrfsTer16) c.354dup (p.Pro119ThrfsTer16) | ClinVar dbSNP |
| 5 | g.88731760G>A | CA360423215 | MEF2C | c.401C>T (p.Pro134Leu) c.779C>T (p.Pro260Leu) n.716C>T c.770C>T (p.Pro257Leu) c.833C>T (p.Pro278Leu) c.773C>T (p.Pro258Leu) n.197C>T c.635C>T (p.Pro212Leu) c.68C>T (p.Pro23Leu) c.188C>T (p.Pro63Leu) c.353C>T (p.Pro118Leu) | |
| 5 | g.88731760G>C | CA360423216 | MEF2C | c.401C>G (p.Pro134Arg) c.779C>G (p.Pro260Arg) n.716C>G c.770C>G (p.Pro257Arg) c.833C>G (p.Pro278Arg) c.773C>G (p.Pro258Arg) n.197C>G c.635C>G (p.Pro212Arg) c.68C>G (p.Pro23Arg) c.188C>G (p.Pro63Arg) c.353C>G (p.Pro118Arg) | |
| 5 | g.88731760G>T | CA360423217 | MEF2C | c.401C>A (p.Pro134Gln) c.779C>A (p.Pro260Gln) n.716C>A c.770C>A (p.Pro257Gln) c.833C>A (p.Pro278Gln) c.773C>A (p.Pro258Gln) n.197C>A c.635C>A (p.Pro212Gln) c.68C>A (p.Pro23Gln) c.188C>A (p.Pro63Gln) c.353C>A (p.Pro118Gln) | |
| 5 | g.88731761G>A | CA360423220 | MEF2C | c.400C>T (p.Pro134Ser) c.778C>T (p.Pro260Ser) n.715C>T c.769C>T (p.Pro257Ser) c.832C>T (p.Pro278Ser) c.772C>T (p.Pro258Ser) n.196C>T c.634C>T (p.Pro212Ser) c.67C>T (p.Pro23Ser) c.187C>T (p.Pro63Ser) c.352C>T (p.Pro118Ser) | COSMIC COSMIC COSMIC COSMIC |
| 5 | g.88731761G>C | CA360423219 | MEF2C | c.400C>G (p.Pro134Ala) c.778C>G (p.Pro260Ala) n.715C>G c.769C>G (p.Pro257Ala) c.832C>G (p.Pro278Ala) c.772C>G (p.Pro258Ala) n.196C>G c.634C>G (p.Pro212Ala) c.67C>G (p.Pro23Ala) c.187C>G (p.Pro63Ala) c.352C>G (p.Pro118Ala) | |
| 5 | g.88731761G>T | CA360423218 | MEF2C | c.400C>A (p.Pro134Thr) c.778C>A (p.Pro260Thr) n.715C>A c.769C>A (p.Pro257Thr) c.832C>A (p.Pro278Thr) c.772C>A (p.Pro258Thr) n.196C>A c.634C>A (p.Pro212Thr) c.67C>A (p.Pro23Thr) c.187C>A (p.Pro63Thr) c.352C>A (p.Pro118Thr) | |
| 5 | g.88731762A>C | CA360423221 | MEF2C | c.399T>G (p.Ile133Met) c.777T>G (p.Ile259Met) n.714T>G c.768T>G (p.Ile256Met) c.831T>G (p.Ile277Met) c.771T>G (p.Ile257Met) n.195T>G c.633T>G (p.Ile211Met) c.66T>G (p.Ile22Met) c.186T>G (p.Ile62Met) c.351T>G (p.Ile117Met) | |
| 5 | g.88731762A>G | CA445369802 | MEF2C | c.399T>C (p.Ile133=) c.777T>C (p.Ile259=) n.714T>C c.768T>C (p.Ile256=) c.831T>C (p.Ile277=) c.771T>C (p.Ile257=) n.195T>C c.633T>C (p.Ile211=) c.66T>C (p.Ile22=) c.186T>C (p.Ile62=) c.351T>C (p.Ile117=) | |
| 5 | g.88731762A>T | CA445369804 | MEF2C | c.399T>A (p.Ile133=) c.777T>A (p.Ile259=) n.714T>A c.768T>A (p.Ile256=) c.831T>A (p.Ile277=) c.771T>A (p.Ile257=) n.195T>A c.633T>A (p.Ile211=) c.66T>A (p.Ile22=) c.186T>A (p.Ile62=) c.351T>A (p.Ile117=) | |
| 5 | g.88731763A= | CA1562203608 | MEF2C | c.398T= (p.Ile133=) c.776T= (p.Ile259=) n.713T= c.767T= (p.Ile256=) c.830T= (p.Ile277=) c.770T= (p.Ile257=) n.194T= c.632T= (p.Ile211=) c.65T= (p.Ile22=) c.185T= (p.Ile62=) c.350T= (p.Ile117=) | |
| 5 | g.88731763A>C | CA360423222 | MEF2C | c.398T>G (p.Ile133Ser) c.776T>G (p.Ile259Ser) n.713T>G c.767T>G (p.Ile256Ser) c.830T>G (p.Ile277Ser) c.770T>G (p.Ile257Ser) n.194T>G c.632T>G (p.Ile211Ser) c.65T>G (p.Ile22Ser) c.185T>G (p.Ile62Ser) c.350T>G (p.Ile117Ser) | |
| 5 | g.88731763A>G | CA360423223 | MEF2C | c.398T>C (p.Ile133Thr) c.776T>C (p.Ile259Thr) n.713T>C c.767T>C (p.Ile256Thr) c.830T>C (p.Ile277Thr) c.770T>C (p.Ile257Thr) n.194T>C c.632T>C (p.Ile211Thr) c.65T>C (p.Ile22Thr) c.185T>C (p.Ile62Thr) c.350T>C (p.Ile117Thr) | dbSNP |
| 5 | g.88731763A>T | CA360423224 | MEF2C | c.398T>A (p.Ile133Asn) c.776T>A (p.Ile259Asn) n.713T>A c.767T>A (p.Ile256Asn) c.830T>A (p.Ile277Asn) c.770T>A (p.Ile257Asn) n.194T>A c.632T>A (p.Ile211Asn) c.65T>A (p.Ile22Asn) c.185T>A (p.Ile62Asn) c.350T>A (p.Ile117Asn) | |
| 5 | g.88731764T>A | CA360423225 | MEF2C | c.397A>T (p.Ile133Phe) c.775A>T (p.Ile259Phe) n.712A>T c.766A>T (p.Ile256Phe) c.829A>T (p.Ile277Phe) c.769A>T (p.Ile257Phe) n.193A>T c.631A>T (p.Ile211Phe) c.64A>T (p.Ile22Phe) c.184A>T (p.Ile62Phe) c.349A>T (p.Ile117Phe) | dbSNP |
| 5 | g.88731764T>C | CA3337253 | MEF2C | c.397A>G (p.Ile133Val) c.775A>G (p.Ile259Val) n.712A>G c.766A>G (p.Ile256Val) c.829A>G (p.Ile277Val) c.769A>G (p.Ile257Val) n.193A>G c.631A>G (p.Ile211Val) c.64A>G (p.Ile22Val) c.184A>G (p.Ile62Val) c.349A>G (p.Ile117Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.88731764T>G | CA360423226 | MEF2C | c.397A>C (p.Ile133Leu) c.775A>C (p.Ile259Leu) n.712A>C c.766A>C (p.Ile256Leu) c.829A>C (p.Ile277Leu) c.769A>C (p.Ile257Leu) n.193A>C c.631A>C (p.Ile211Leu) c.64A>C (p.Ile22Leu) c.184A>C (p.Ile62Leu) c.349A>C (p.Ile117Leu) | |
| 5 | g.88731764T= | CA1562203609 | MEF2C | c.397A= (p.Ile133=) c.775A= (p.Ile259=) n.712A= c.766A= (p.Ile256=) c.829A= (p.Ile277=) c.769A= (p.Ile257=) n.193A= c.631A= (p.Ile211=) c.64A= (p.Ile22=) c.184A= (p.Ile62=) c.349A= (p.Ile117=) | |
| 5 | g.88731765A= | CA1562203610 | MEF2C | c.396T= (p.Leu132=) c.774T= (p.Leu258=) n.711T= c.765T= (p.Leu255=) c.828T= (p.Leu276=) c.768T= (p.Leu256=) n.192T= c.630T= (p.Leu210=) c.63T= (p.Leu21=) c.183T= (p.Leu61=) c.348T= (p.Leu116=) | |
| 5 | g.88731765A>C | CA445369810 | MEF2C | c.396T>G (p.Leu132=) c.774T>G (p.Leu258=) n.711T>G c.765T>G (p.Leu255=) c.828T>G (p.Leu276=) c.768T>G (p.Leu256=) n.192T>G c.630T>G (p.Leu210=) c.63T>G (p.Leu21=) c.183T>G (p.Leu61=) c.348T>G (p.Leu116=) | |
| 5 | g.88731765A>G | CA445369811 | MEF2C | c.396T>C (p.Leu132=) c.774T>C (p.Leu258=) n.711T>C c.765T>C (p.Leu255=) c.828T>C (p.Leu276=) c.768T>C (p.Leu256=) n.192T>C c.630T>C (p.Leu210=) c.63T>C (p.Leu21=) c.183T>C (p.Leu61=) c.348T>C (p.Leu116=) | dbSNP gnomAD v2 |
| 5 | g.88731765A>T | CA445369813 | MEF2C | c.396T>A (p.Leu132=) c.774T>A (p.Leu258=) n.711T>A c.765T>A (p.Leu255=) c.828T>A (p.Leu276=) c.768T>A (p.Leu256=) n.192T>A c.630T>A (p.Leu210=) c.63T>A (p.Leu21=) c.183T>A (p.Leu61=) c.348T>A (p.Leu116=) | |
| 5 | g.88731766A= | CA1562203611 | MEF2C | c.395T= (p.Leu132=) c.773T= (p.Leu258=) n.710T= c.764T= (p.Leu255=) c.827T= (p.Leu276=) c.767T= (p.Leu256=) n.191T= c.629T= (p.Leu210=) c.62T= (p.Leu21=) c.182T= (p.Leu61=) c.347T= (p.Leu116=) | |
| 5 | g.88731766A>C | CA360423228 | MEF2C | c.395T>G (p.Leu132Arg) c.773T>G (p.Leu258Arg) n.710T>G c.764T>G (p.Leu255Arg) c.827T>G (p.Leu276Arg) c.767T>G (p.Leu256Arg) n.191T>G c.629T>G (p.Leu210Arg) c.62T>G (p.Leu21Arg) c.182T>G (p.Leu61Arg) c.347T>G (p.Leu116Arg) | |
| 5 | g.88731766A>G | CA360423229 | MEF2C | c.395T>C (p.Leu132Pro) c.773T>C (p.Leu258Pro) n.710T>C c.764T>C (p.Leu255Pro) c.827T>C (p.Leu276Pro) c.767T>C (p.Leu256Pro) n.191T>C c.629T>C (p.Leu210Pro) c.62T>C (p.Leu21Pro) c.182T>C (p.Leu61Pro) c.347T>C (p.Leu116Pro) | |
| 5 | g.88731766A>T | CA360423227 | MEF2C | c.395T>A (p.Leu132His) c.773T>A (p.Leu258His) n.710T>A c.764T>A (p.Leu255His) c.827T>A (p.Leu276His) c.767T>A (p.Leu256His) n.191T>A c.629T>A (p.Leu210His) c.62T>A (p.Leu21His) c.182T>A (p.Leu61His) c.347T>A (p.Leu116His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.88731767G>A | CA360423232 | MEF2C | c.394C>T (p.Leu132Phe) c.772C>T (p.Leu258Phe) n.709C>T c.763C>T (p.Leu255Phe) c.826C>T (p.Leu276Phe) c.766C>T (p.Leu256Phe) n.190C>T c.628C>T (p.Leu210Phe) c.61C>T (p.Leu21Phe) c.181C>T (p.Leu61Phe) c.346C>T (p.Leu116Phe) | |
| 5 | g.88731767G>C | CA360423230 | MEF2C | c.394C>G (p.Leu132Val) c.772C>G (p.Leu258Val) n.709C>G c.763C>G (p.Leu255Val) c.826C>G (p.Leu276Val) c.766C>G (p.Leu256Val) n.190C>G c.628C>G (p.Leu210Val) c.61C>G (p.Leu21Val) c.181C>G (p.Leu61Val) c.346C>G (p.Leu116Val) | |
| 5 | g.88731767G>T | CA360423231 | MEF2C | c.394C>A (p.Leu132Ile) c.772C>A (p.Leu258Ile) n.709C>A c.763C>A (p.Leu255Ile) c.826C>A (p.Leu276Ile) c.766C>A (p.Leu256Ile) n.190C>A c.628C>A (p.Leu210Ile) c.61C>A (p.Leu21Ile) c.181C>A (p.Leu61Ile) c.346C>A (p.Leu116Ile) | |
| 5 | g.88731768A>C | CA445369818 | MEF2C | c.393T>G (p.Val131=) c.771T>G (p.Val257=) n.708T>G c.762T>G (p.Val254=) c.825T>G (p.Val275=) c.765T>G (p.Val255=) n.189T>G c.627T>G (p.Val209=) c.60T>G (p.Val20=) c.180T>G (p.Val60=) c.345T>G (p.Val115=) | |
| 5 | g.88731768A>G | CA445369820 | MEF2C | c.393T>C (p.Val131=) c.771T>C (p.Val257=) n.708T>C c.762T>C (p.Val254=) c.825T>C (p.Val275=) c.765T>C (p.Val255=) n.189T>C c.627T>C (p.Val209=) c.60T>C (p.Val20=) c.180T>C (p.Val60=) c.345T>C (p.Val115=) | |
| 5 | g.88731768A>T | CA445369822 | MEF2C | c.393T>A (p.Val131=) c.771T>A (p.Val257=) n.708T>A c.762T>A (p.Val254=) c.825T>A (p.Val275=) c.765T>A (p.Val255=) n.189T>A c.627T>A (p.Val209=) c.60T>A (p.Val20=) c.180T>A (p.Val60=) c.345T>A (p.Val115=) | |
| 5 | g.88731769A>C | CA360423233 | MEF2C | c.392T>G (p.Val131Gly) c.770T>G (p.Val257Gly) n.707T>G c.761T>G (p.Val254Gly) c.824T>G (p.Val275Gly) c.764T>G (p.Val255Gly) n.188T>G c.626T>G (p.Val209Gly) c.59T>G (p.Val20Gly) c.179T>G (p.Val60Gly) c.344T>G (p.Val115Gly) | gnomAD v4 |
| 5 | g.88731769A>G | CA360423234 | MEF2C | c.392T>C (p.Val131Ala) c.770T>C (p.Val257Ala) n.707T>C c.761T>C (p.Val254Ala) c.824T>C (p.Val275Ala) c.764T>C (p.Val255Ala) n.188T>C c.626T>C (p.Val209Ala) c.59T>C (p.Val20Ala) c.179T>C (p.Val60Ala) c.344T>C (p.Val115Ala) | |
| 5 | g.88731769A>T | CA360423235 | MEF2C | c.392T>A (p.Val131Asp) c.770T>A (p.Val257Asp) n.707T>A c.761T>A (p.Val254Asp) c.824T>A (p.Val275Asp) c.764T>A (p.Val255Asp) n.188T>A c.626T>A (p.Val209Asp) c.59T>A (p.Val20Asp) c.179T>A (p.Val60Asp) c.344T>A (p.Val115Asp) | |
| 5 | g.88731770C>A | CA360423236 | MEF2C | c.391G>T (p.Val131Phe) c.769G>T (p.Val257Phe) n.706G>T c.760G>T (p.Val254Phe) c.823G>T (p.Val275Phe) c.763G>T (p.Val255Phe) n.187G>T c.625G>T (p.Val209Phe) c.58G>T (p.Val20Phe) c.178G>T (p.Val60Phe) c.343G>T (p.Val115Phe) |