UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178621641C>A | CA430276065 | TTN | c.37479G>T (p.Val12493=) c.18564G>T (p.Val6188=) c.18363G>T (p.Val6121=) c.17988G>T (p.Val5996=) c.45183G>T (p.Val15061=) c.40260G>T (p.Val13420=) c.44280G>T (p.Val14760=) c.18174G>T (p.Val6058=) c.18033G>T (p.Val6011=) c.44076G>T (p.Val14692=) c.39474G>T (p.Val13158=) c.39471G>T (p.Val13157=) c.36513G>T (p.Val12171=) c.18129G>T (p.Val6043=) c.39624G>T (p.Val13208=) c.39621G>T (p.Val13207=) c.39054G>T (p.Val13018=) c.36396G>T (p.Val12132=) c.36315G>T (p.Val12105=) c.18078G>T (p.Val6026=) c.7932G>T (p.Val2644=) | |
| 2 | g.178621641C>G | CA430276066 | TTN | c.37479G>C (p.Val12493=) c.18564G>C (p.Val6188=) c.18363G>C (p.Val6121=) c.17988G>C (p.Val5996=) c.45183G>C (p.Val15061=) c.40260G>C (p.Val13420=) c.44280G>C (p.Val14760=) c.18174G>C (p.Val6058=) c.18033G>C (p.Val6011=) c.44076G>C (p.Val14692=) c.39474G>C (p.Val13158=) c.39471G>C (p.Val13157=) c.36513G>C (p.Val12171=) c.18129G>C (p.Val6043=) c.39624G>C (p.Val13208=) c.39621G>C (p.Val13207=) c.39054G>C (p.Val13018=) c.36396G>C (p.Val12132=) c.36315G>C (p.Val12105=) c.18078G>C (p.Val6026=) c.7932G>C (p.Val2644=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178621641C>T | CA430276068 | TTN | c.37479G>A (p.Val12493=) c.18564G>A (p.Val6188=) c.18363G>A (p.Val6121=) c.17988G>A (p.Val5996=) c.45183G>A (p.Val15061=) c.40260G>A (p.Val13420=) c.44280G>A (p.Val14760=) c.18174G>A (p.Val6058=) c.18033G>A (p.Val6011=) c.44076G>A (p.Val14692=) c.39474G>A (p.Val13158=) c.39471G>A (p.Val13157=) c.36513G>A (p.Val12171=) c.18129G>A (p.Val6043=) c.39624G>A (p.Val13208=) c.39621G>A (p.Val13207=) c.39054G>A (p.Val13018=) c.36396G>A (p.Val12132=) c.36315G>A (p.Val12105=) c.18078G>A (p.Val6026=) c.7932G>A (p.Val2644=) | |
| 2 | g.178621641_178621642delinsCA | CA1310552295 | TTN | c.37478_37479delinsTG (p.Val12493=) c.18563_18564delinsTG (p.Val6188=) c.18362_18363delinsTG (p.Val6121=) c.17987_17988delinsTG (p.Val5996=) c.45182_45183delinsTG (p.Val15061=) c.40259_40260delinsTG (p.Val13420=) c.44279_44280delinsTG (p.Val14760=) c.18173_18174delinsTG (p.Val6058=) c.18032_18033delinsTG (p.Val6011=) c.44075_44076delinsTG (p.Val14692=) c.39473_39474delinsTG (p.Val13158=) c.39470_39471delinsTG (p.Val13157=) c.36512_36513delinsTG (p.Val12171=) c.18128_18129delinsTG (p.Val6043=) c.39623_39624delinsTG (p.Val13208=) c.39620_39621delinsTG (p.Val13207=) c.39053_39054delinsTG (p.Val13018=) c.36395_36396delinsTG (p.Val12132=) c.36314_36315delinsTG (p.Val12105=) c.18077_18078delinsTG (p.Val6026=) c.7931_7932delinsTG (p.Val2644=) | |
| 2 | g.178621642del | CA1995483 | TTN | c.37478del (p.Val12493GlyfsTer19) c.18563del (p.Val6188GlyfsTer19) c.18362del (p.Val6121GlyfsTer19) c.17987del (p.Val5996GlyfsTer19) c.45182del (p.Val15061GlyfsTer19) c.40259del (p.Val13420GlyfsTer19) c.44279del (p.Val14760GlyfsTer19) c.18173del (p.Val6058GlyfsTer19) c.18032del (p.Val6011GlyfsTer19) c.44075del (p.Val14692GlyfsTer19) c.39473del (p.Val13158GlyfsTer19) c.39470del (p.Val13157GlyfsTer19) c.36512del (p.Val12171GlyfsTer19) c.18128del (p.Val6043GlyfsTer19) c.39623del (p.Val13208GlyfsTer19) c.39620del (p.Val13207GlyfsTer19) c.39053del (p.Val13018GlyfsTer19) c.36395del (p.Val12132GlyfsTer19) c.36314del (p.Val12105GlyfsTer19) c.18077del (p.Val6026GlyfsTer19) c.7931del (p.Val2644GlyfsTer19) | dbSNP ExAC gnomAD v2 |
| 2 | g.178621642A>C | CA349635704 | TTN | c.37478T>G (p.Val12493Gly) c.18563T>G (p.Val6188Gly) c.18362T>G (p.Val6121Gly) c.17987T>G (p.Val5996Gly) c.45182T>G (p.Val15061Gly) c.40259T>G (p.Val13420Gly) c.44279T>G (p.Val14760Gly) c.18173T>G (p.Val6058Gly) c.18032T>G (p.Val6011Gly) c.44075T>G (p.Val14692Gly) c.39473T>G (p.Val13158Gly) c.39470T>G (p.Val13157Gly) c.36512T>G (p.Val12171Gly) c.18128T>G (p.Val6043Gly) c.39623T>G (p.Val13208Gly) c.39620T>G (p.Val13207Gly) c.39053T>G (p.Val13018Gly) c.36395T>G (p.Val12132Gly) c.36314T>G (p.Val12105Gly) c.18077T>G (p.Val6026Gly) c.7931T>G (p.Val2644Gly) | gnomAD v4 |
| 2 | g.178621642A>G | CA349635706 | TTN | c.37478T>C (p.Val12493Ala) c.18563T>C (p.Val6188Ala) c.18362T>C (p.Val6121Ala) c.17987T>C (p.Val5996Ala) c.45182T>C (p.Val15061Ala) c.40259T>C (p.Val13420Ala) c.44279T>C (p.Val14760Ala) c.18173T>C (p.Val6058Ala) c.18032T>C (p.Val6011Ala) c.44075T>C (p.Val14692Ala) c.39473T>C (p.Val13158Ala) c.39470T>C (p.Val13157Ala) c.36512T>C (p.Val12171Ala) c.18128T>C (p.Val6043Ala) c.39623T>C (p.Val13208Ala) c.39620T>C (p.Val13207Ala) c.39053T>C (p.Val13018Ala) c.36395T>C (p.Val12132Ala) c.36314T>C (p.Val12105Ala) c.18077T>C (p.Val6026Ala) c.7931T>C (p.Val2644Ala) | |
| 2 | g.178621642A>T | CA349635708 | TTN | c.37478T>A (p.Val12493Glu) c.18563T>A (p.Val6188Glu) c.18362T>A (p.Val6121Glu) c.17987T>A (p.Val5996Glu) c.45182T>A (p.Val15061Glu) c.40259T>A (p.Val13420Glu) c.44279T>A (p.Val14760Glu) c.18173T>A (p.Val6058Glu) c.18032T>A (p.Val6011Glu) c.44075T>A (p.Val14692Glu) c.39473T>A (p.Val13158Glu) c.39470T>A (p.Val13157Glu) c.36512T>A (p.Val12171Glu) c.18128T>A (p.Val6043Glu) c.39623T>A (p.Val13208Glu) c.39620T>A (p.Val13207Glu) c.39053T>A (p.Val13018Glu) c.36395T>A (p.Val12132Glu) c.36314T>A (p.Val12105Glu) c.18077T>A (p.Val6026Glu) c.7931T>A (p.Val2644Glu) | |
| 2 | g.178621643C>A | CA349635711 | TTN | c.37477G>T (p.Val12493Leu) c.18562G>T (p.Val6188Leu) c.18361G>T (p.Val6121Leu) c.17986G>T (p.Val5996Leu) c.45181G>T (p.Val15061Leu) c.40258G>T (p.Val13420Leu) c.44278G>T (p.Val14760Leu) c.18172G>T (p.Val6058Leu) c.18031G>T (p.Val6011Leu) c.44074G>T (p.Val14692Leu) c.39472G>T (p.Val13158Leu) c.39469G>T (p.Val13157Leu) c.36511G>T (p.Val12171Leu) c.18127G>T (p.Val6043Leu) c.39622G>T (p.Val13208Leu) c.39619G>T (p.Val13207Leu) c.39052G>T (p.Val13018Leu) c.36394G>T (p.Val12132Leu) c.36313G>T (p.Val12105Leu) c.18076G>T (p.Val6026Leu) c.7930G>T (p.Val2644Leu) | |
| 2 | g.178621643C>G | CA349635713 | TTN | c.37477G>C (p.Val12493Leu) c.18562G>C (p.Val6188Leu) c.18361G>C (p.Val6121Leu) c.17986G>C (p.Val5996Leu) c.45181G>C (p.Val15061Leu) c.40258G>C (p.Val13420Leu) c.44278G>C (p.Val14760Leu) c.18172G>C (p.Val6058Leu) c.18031G>C (p.Val6011Leu) c.44074G>C (p.Val14692Leu) c.39472G>C (p.Val13158Leu) c.39469G>C (p.Val13157Leu) c.36511G>C (p.Val12171Leu) c.18127G>C (p.Val6043Leu) c.39622G>C (p.Val13208Leu) c.39619G>C (p.Val13207Leu) c.39052G>C (p.Val13018Leu) c.36394G>C (p.Val12132Leu) c.36313G>C (p.Val12105Leu) c.18076G>C (p.Val6026Leu) c.7930G>C (p.Val2644Leu) | |
| 2 | g.178621643C>T | CA349635714 | TTN | c.37477G>A (p.Val12493Met) c.18562G>A (p.Val6188Met) c.18361G>A (p.Val6121Met) c.17986G>A (p.Val5996Met) c.45181G>A (p.Val15061Met) c.40258G>A (p.Val13420Met) c.44278G>A (p.Val14760Met) c.18172G>A (p.Val6058Met) c.18031G>A (p.Val6011Met) c.44074G>A (p.Val14692Met) c.39472G>A (p.Val13158Met) c.39469G>A (p.Val13157Met) c.36511G>A (p.Val12171Met) c.18127G>A (p.Val6043Met) c.39622G>A (p.Val13208Met) c.39619G>A (p.Val13207Met) c.39052G>A (p.Val13018Met) c.36394G>A (p.Val12132Met) c.36313G>A (p.Val12105Met) c.18076G>A (p.Val6026Met) c.7930G>A (p.Val2644Met) | |
| 2 | g.178621644T>A | CA349635716 | TTN | c.37476A>T (p.Glu12492Asp) c.18561A>T (p.Glu6187Asp) c.18360A>T (p.Glu6120Asp) c.17985A>T (p.Glu5995Asp) c.45180A>T (p.Glu15060Asp) c.40257A>T (p.Glu13419Asp) c.44277A>T (p.Glu14759Asp) c.18171A>T (p.Glu6057Asp) c.18030A>T (p.Glu6010Asp) c.44073A>T (p.Glu14691Asp) c.39471A>T (p.Glu13157Asp) c.39468A>T (p.Glu13156Asp) c.36510A>T (p.Glu12170Asp) c.18126A>T (p.Glu6042Asp) c.39621A>T (p.Glu13207Asp) c.39618A>T (p.Glu13206Asp) c.39051A>T (p.Glu13017Asp) c.36393A>T (p.Glu12131Asp) c.36312A>T (p.Glu12104Asp) c.18075A>T (p.Glu6025Asp) c.7929A>T (p.Glu2643Asp) | |
| 2 | g.178621644T>C | CA430276077 | TTN | c.37476A>G (p.Glu12492=) c.18561A>G (p.Glu6187=) c.18360A>G (p.Glu6120=) c.17985A>G (p.Glu5995=) c.45180A>G (p.Glu15060=) c.40257A>G (p.Glu13419=) c.44277A>G (p.Glu14759=) c.18171A>G (p.Glu6057=) c.18030A>G (p.Glu6010=) c.44073A>G (p.Glu14691=) c.39471A>G (p.Glu13157=) c.39468A>G (p.Glu13156=) c.36510A>G (p.Glu12170=) c.18126A>G (p.Glu6042=) c.39621A>G (p.Glu13207=) c.39618A>G (p.Glu13206=) c.39051A>G (p.Glu13017=) c.36393A>G (p.Glu12131=) c.36312A>G (p.Glu12104=) c.18075A>G (p.Glu6025=) c.7929A>G (p.Glu2643=) | |
| 2 | g.178621644T>G | CA349635717 | TTN | c.37476A>C (p.Glu12492Asp) c.18561A>C (p.Glu6187Asp) c.18360A>C (p.Glu6120Asp) c.17985A>C (p.Glu5995Asp) c.45180A>C (p.Glu15060Asp) c.40257A>C (p.Glu13419Asp) c.44277A>C (p.Glu14759Asp) c.18171A>C (p.Glu6057Asp) c.18030A>C (p.Glu6010Asp) c.44073A>C (p.Glu14691Asp) c.39471A>C (p.Glu13157Asp) c.39468A>C (p.Glu13156Asp) c.36510A>C (p.Glu12170Asp) c.18126A>C (p.Glu6042Asp) c.39621A>C (p.Glu13207Asp) c.39618A>C (p.Glu13206Asp) c.39051A>C (p.Glu13017Asp) c.36393A>C (p.Glu12131Asp) c.36312A>C (p.Glu12104Asp) c.18075A>C (p.Glu6025Asp) c.7929A>C (p.Glu2643Asp) | |
| 2 | g.178621645T>A | CA349635718 | TTN | c.37475A>T (p.Glu12492Val) c.18560A>T (p.Glu6187Val) c.18359A>T (p.Glu6120Val) c.17984A>T (p.Glu5995Val) c.45179A>T (p.Glu15060Val) c.40256A>T (p.Glu13419Val) c.44276A>T (p.Glu14759Val) c.18170A>T (p.Glu6057Val) c.18029A>T (p.Glu6010Val) c.44072A>T (p.Glu14691Val) c.39470A>T (p.Glu13157Val) c.39467A>T (p.Glu13156Val) c.36509A>T (p.Glu12170Val) c.18125A>T (p.Glu6042Val) c.39620A>T (p.Glu13207Val) c.39617A>T (p.Glu13206Val) c.39050A>T (p.Glu13017Val) c.36392A>T (p.Glu12131Val) c.36311A>T (p.Glu12104Val) c.18074A>T (p.Glu6025Val) c.7928A>T (p.Glu2643Val) | |
| 2 | g.178621645T>C | CA349635721 | TTN | c.37475A>G (p.Glu12492Gly) c.18560A>G (p.Glu6187Gly) c.18359A>G (p.Glu6120Gly) c.17984A>G (p.Glu5995Gly) c.45179A>G (p.Glu15060Gly) c.40256A>G (p.Glu13419Gly) c.44276A>G (p.Glu14759Gly) c.18170A>G (p.Glu6057Gly) c.18029A>G (p.Glu6010Gly) c.44072A>G (p.Glu14691Gly) c.39470A>G (p.Glu13157Gly) c.39467A>G (p.Glu13156Gly) c.36509A>G (p.Glu12170Gly) c.18125A>G (p.Glu6042Gly) c.39620A>G (p.Glu13207Gly) c.39617A>G (p.Glu13206Gly) c.39050A>G (p.Glu13017Gly) c.36392A>G (p.Glu12131Gly) c.36311A>G (p.Glu12104Gly) c.18074A>G (p.Glu6025Gly) c.7928A>G (p.Glu2643Gly) | |
| 2 | g.178621645T>G | CA349635720 | TTN | c.37475A>C (p.Glu12492Ala) c.18560A>C (p.Glu6187Ala) c.18359A>C (p.Glu6120Ala) c.17984A>C (p.Glu5995Ala) c.45179A>C (p.Glu15060Ala) c.40256A>C (p.Glu13419Ala) c.44276A>C (p.Glu14759Ala) c.18170A>C (p.Glu6057Ala) c.18029A>C (p.Glu6010Ala) c.44072A>C (p.Glu14691Ala) c.39470A>C (p.Glu13157Ala) c.39467A>C (p.Glu13156Ala) c.36509A>C (p.Glu12170Ala) c.18125A>C (p.Glu6042Ala) c.39620A>C (p.Glu13207Ala) c.39617A>C (p.Glu13206Ala) c.39050A>C (p.Glu13017Ala) c.36392A>C (p.Glu12131Ala) c.36311A>C (p.Glu12104Ala) c.18074A>C (p.Glu6025Ala) c.7928A>C (p.Glu2643Ala) | |
| 2 | g.178621646C>A | CA349635724 | TTN | c.37474G>T (p.Glu12492Ter) c.18559G>T (p.Glu6187Ter) c.18358G>T (p.Glu6120Ter) c.17983G>T (p.Glu5995Ter) c.45178G>T (p.Glu15060Ter) c.40255G>T (p.Glu13419Ter) c.44275G>T (p.Glu14759Ter) c.18169G>T (p.Glu6057Ter) c.18028G>T (p.Glu6010Ter) c.44071G>T (p.Glu14691Ter) c.39469G>T (p.Glu13157Ter) c.39466G>T (p.Glu13156Ter) c.36508G>T (p.Glu12170Ter) c.18124G>T (p.Glu6042Ter) c.39619G>T (p.Glu13207Ter) c.39616G>T (p.Glu13206Ter) c.39049G>T (p.Glu13017Ter) c.36391G>T (p.Glu12131Ter) c.36310G>T (p.Glu12104Ter) c.18073G>T (p.Glu6025Ter) c.7927G>T (p.Glu2643Ter) | gnomAD v4 |
| 2 | g.178621646C>G | CA349635725 | TTN | c.37474G>C (p.Glu12492Gln) c.18559G>C (p.Glu6187Gln) c.18358G>C (p.Glu6120Gln) c.17983G>C (p.Glu5995Gln) c.45178G>C (p.Glu15060Gln) c.40255G>C (p.Glu13419Gln) c.44275G>C (p.Glu14759Gln) c.18169G>C (p.Glu6057Gln) c.18028G>C (p.Glu6010Gln) c.44071G>C (p.Glu14691Gln) c.39469G>C (p.Glu13157Gln) c.39466G>C (p.Glu13156Gln) c.36508G>C (p.Glu12170Gln) c.18124G>C (p.Glu6042Gln) c.39619G>C (p.Glu13207Gln) c.39616G>C (p.Glu13206Gln) c.39049G>C (p.Glu13017Gln) c.36391G>C (p.Glu12131Gln) c.36310G>C (p.Glu12104Gln) c.18073G>C (p.Glu6025Gln) c.7927G>C (p.Glu2643Gln) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178621646C>T | CA349635726 | TTN | c.37474G>A (p.Glu12492Lys) c.18559G>A (p.Glu6187Lys) c.18358G>A (p.Glu6120Lys) c.17983G>A (p.Glu5995Lys) c.45178G>A (p.Glu15060Lys) c.40255G>A (p.Glu13419Lys) c.44275G>A (p.Glu14759Lys) c.18169G>A (p.Glu6057Lys) c.18028G>A (p.Glu6010Lys) c.44071G>A (p.Glu14691Lys) c.39469G>A (p.Glu13157Lys) c.39466G>A (p.Glu13156Lys) c.36508G>A (p.Glu12170Lys) c.18124G>A (p.Glu6042Lys) c.39619G>A (p.Glu13207Lys) c.39616G>A (p.Glu13206Lys) c.39049G>A (p.Glu13017Lys) c.36391G>A (p.Glu12131Lys) c.36310G>A (p.Glu12104Lys) c.18073G>A (p.Glu6025Lys) c.7927G>A (p.Glu2643Lys) | |
| 2 | g.178621647T>A | CA430276087 | TTN | c.37473A>T (p.Ala12491=) c.18558A>T (p.Ala6186=) c.18357A>T (p.Ala6119=) c.17982A>T (p.Ala5994=) c.45177A>T (p.Ala15059=) c.40254A>T (p.Ala13418=) c.44274A>T (p.Ala14758=) c.18168A>T (p.Ala6056=) c.18027A>T (p.Ala6009=) c.44070A>T (p.Ala14690=) c.39468A>T (p.Ala13156=) c.39465A>T (p.Ala13155=) c.36507A>T (p.Ala12169=) c.18123A>T (p.Ala6041=) c.39618A>T (p.Ala13206=) c.39615A>T (p.Ala13205=) c.39048A>T (p.Ala13016=) c.36390A>T (p.Ala12130=) c.36309A>T (p.Ala12103=) c.18072A>T (p.Ala6024=) c.7926A>T (p.Ala2642=) | |
| 2 | g.178621647T>C | CA1995484 | TTN | c.37473A>G (p.Ala12491=) c.18558A>G (p.Ala6186=) c.18357A>G (p.Ala6119=) c.17982A>G (p.Ala5994=) c.45177A>G (p.Ala15059=) c.40254A>G (p.Ala13418=) c.44274A>G (p.Ala14758=) c.18168A>G (p.Ala6056=) c.18027A>G (p.Ala6009=) c.44070A>G (p.Ala14690=) c.39468A>G (p.Ala13156=) c.39465A>G (p.Ala13155=) c.36507A>G (p.Ala12169=) c.18123A>G (p.Ala6041=) c.39618A>G (p.Ala13206=) c.39615A>G (p.Ala13205=) c.39048A>G (p.Ala13016=) c.36390A>G (p.Ala12130=) c.36309A>G (p.Ala12103=) c.18072A>G (p.Ala6024=) c.7926A>G (p.Ala2642=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178621647T>G | CA430276089 | TTN | c.37473A>C (p.Ala12491=) c.18558A>C (p.Ala6186=) c.18357A>C (p.Ala6119=) c.17982A>C (p.Ala5994=) c.45177A>C (p.Ala15059=) c.40254A>C (p.Ala13418=) c.44274A>C (p.Ala14758=) c.18168A>C (p.Ala6056=) c.18027A>C (p.Ala6009=) c.44070A>C (p.Ala14690=) c.39468A>C (p.Ala13156=) c.39465A>C (p.Ala13155=) c.36507A>C (p.Ala12169=) c.18123A>C (p.Ala6041=) c.39618A>C (p.Ala13206=) c.39615A>C (p.Ala13205=) c.39048A>C (p.Ala13016=) c.36390A>C (p.Ala12130=) c.36309A>C (p.Ala12103=) c.18072A>C (p.Ala6024=) c.7926A>C (p.Ala2642=) | |
| 2 | g.178621647T= | CA1310552296 | TTN | c.37473A= (p.Ala12491=) c.18558A= (p.Ala6186=) c.18357A= (p.Ala6119=) c.17982A= (p.Ala5994=) c.45177A= (p.Ala15059=) c.40254A= (p.Ala13418=) c.44274A= (p.Ala14758=) c.18168A= (p.Ala6056=) c.18027A= (p.Ala6009=) c.44070A= (p.Ala14690=) c.39468A= (p.Ala13156=) c.39465A= (p.Ala13155=) c.36507A= (p.Ala12169=) c.18123A= (p.Ala6041=) c.39618A= (p.Ala13206=) c.39615A= (p.Ala13205=) c.39048A= (p.Ala13016=) c.36390A= (p.Ala12130=) c.36309A= (p.Ala12103=) c.18072A= (p.Ala6024=) c.7926A= (p.Ala2642=) | |
| 2 | g.178621648G>A | CA349635729 | TTN | c.37472C>T (p.Ala12491Val) c.18557C>T (p.Ala6186Val) c.18356C>T (p.Ala6119Val) c.17981C>T (p.Ala5994Val) c.45176C>T (p.Ala15059Val) c.40253C>T (p.Ala13418Val) c.44273C>T (p.Ala14758Val) c.18167C>T (p.Ala6056Val) c.18026C>T (p.Ala6009Val) c.44069C>T (p.Ala14690Val) c.39467C>T (p.Ala13156Val) c.39464C>T (p.Ala13155Val) c.36506C>T (p.Ala12169Val) c.18122C>T (p.Ala6041Val) c.39617C>T (p.Ala13206Val) c.39614C>T (p.Ala13205Val) c.39047C>T (p.Ala13016Val) c.36389C>T (p.Ala12130Val) c.36308C>T (p.Ala12103Val) c.18071C>T (p.Ala6024Val) c.7925C>T (p.Ala2642Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178621648G>C | CA349635730 | TTN | c.37472C>G (p.Ala12491Gly) c.18557C>G (p.Ala6186Gly) c.18356C>G (p.Ala6119Gly) c.17981C>G (p.Ala5994Gly) c.45176C>G (p.Ala15059Gly) c.40253C>G (p.Ala13418Gly) c.44273C>G (p.Ala14758Gly) c.18167C>G (p.Ala6056Gly) c.18026C>G (p.Ala6009Gly) c.44069C>G (p.Ala14690Gly) c.39467C>G (p.Ala13156Gly) c.39464C>G (p.Ala13155Gly) c.36506C>G (p.Ala12169Gly) c.18122C>G (p.Ala6041Gly) c.39617C>G (p.Ala13206Gly) c.39614C>G (p.Ala13205Gly) c.39047C>G (p.Ala13016Gly) c.36389C>G (p.Ala12130Gly) c.36308C>G (p.Ala12103Gly) c.18071C>G (p.Ala6024Gly) c.7925C>G (p.Ala2642Gly) | |
| 2 | g.178621648G>T | CA349635732 | TTN | c.37472C>A (p.Ala12491Glu) c.18557C>A (p.Ala6186Glu) c.18356C>A (p.Ala6119Glu) c.17981C>A (p.Ala5994Glu) c.45176C>A (p.Ala15059Glu) c.40253C>A (p.Ala13418Glu) c.44273C>A (p.Ala14758Glu) c.18167C>A (p.Ala6056Glu) c.18026C>A (p.Ala6009Glu) c.44069C>A (p.Ala14690Glu) c.39467C>A (p.Ala13156Glu) c.39464C>A (p.Ala13155Glu) c.36506C>A (p.Ala12169Glu) c.18122C>A (p.Ala6041Glu) c.39617C>A (p.Ala13206Glu) c.39614C>A (p.Ala13205Glu) c.39047C>A (p.Ala13016Glu) c.36389C>A (p.Ala12130Glu) c.36308C>A (p.Ala12103Glu) c.18071C>A (p.Ala6024Glu) c.7925C>A (p.Ala2642Glu) | |
| 2 | g.178621649C>A | CA349635735 | TTN | c.37471G>T (p.Ala12491Ser) c.18556G>T (p.Ala6186Ser) c.18355G>T (p.Ala6119Ser) c.17980G>T (p.Ala5994Ser) c.45175G>T (p.Ala15059Ser) c.40252G>T (p.Ala13418Ser) c.44272G>T (p.Ala14758Ser) c.18166G>T (p.Ala6056Ser) c.18025G>T (p.Ala6009Ser) c.44068G>T (p.Ala14690Ser) c.39466G>T (p.Ala13156Ser) c.39463G>T (p.Ala13155Ser) c.36505G>T (p.Ala12169Ser) c.18121G>T (p.Ala6041Ser) c.39616G>T (p.Ala13206Ser) c.39613G>T (p.Ala13205Ser) c.39046G>T (p.Ala13016Ser) c.36388G>T (p.Ala12130Ser) c.36307G>T (p.Ala12103Ser) c.18070G>T (p.Ala6024Ser) c.7924G>T (p.Ala2642Ser) | |
| 2 | g.178621649C= | CA1310552297 | TTN | c.37471G= (p.Ala12491=) c.18556G= (p.Ala6186=) c.18355G= (p.Ala6119=) c.17980G= (p.Ala5994=) c.45175G= (p.Ala15059=) c.40252G= (p.Ala13418=) c.44272G= (p.Ala14758=) c.18166G= (p.Ala6056=) c.18025G= (p.Ala6009=) c.44068G= (p.Ala14690=) c.39466G= (p.Ala13156=) c.39463G= (p.Ala13155=) c.36505G= (p.Ala12169=) c.18121G= (p.Ala6041=) c.39616G= (p.Ala13206=) c.39613G= (p.Ala13205=) c.39046G= (p.Ala13016=) c.36388G= (p.Ala12130=) c.36307G= (p.Ala12103=) c.18070G= (p.Ala6024=) c.7924G= (p.Ala2642=) | |
| 2 | g.178621649C>G | CA349635738 | TTN | c.37471G>C (p.Ala12491Pro) c.18556G>C (p.Ala6186Pro) c.18355G>C (p.Ala6119Pro) c.17980G>C (p.Ala5994Pro) c.45175G>C (p.Ala15059Pro) c.40252G>C (p.Ala13418Pro) c.44272G>C (p.Ala14758Pro) c.18166G>C (p.Ala6056Pro) c.18025G>C (p.Ala6009Pro) c.44068G>C (p.Ala14690Pro) c.39466G>C (p.Ala13156Pro) c.39463G>C (p.Ala13155Pro) c.36505G>C (p.Ala12169Pro) c.18121G>C (p.Ala6041Pro) c.39616G>C (p.Ala13206Pro) c.39613G>C (p.Ala13205Pro) c.39046G>C (p.Ala13016Pro) c.36388G>C (p.Ala12130Pro) c.36307G>C (p.Ala12103Pro) c.18070G>C (p.Ala6024Pro) c.7924G>C (p.Ala2642Pro) | |
| 2 | g.178621649C>T | CA139690 | TTN | c.37471G>A (p.Ala12491Thr) c.18556G>A (p.Ala6186Thr) c.18355G>A (p.Ala6119Thr) c.17980G>A (p.Ala5994Thr) c.45175G>A (p.Ala15059Thr) c.40252G>A (p.Ala13418Thr) c.44272G>A (p.Ala14758Thr) c.18166G>A (p.Ala6056Thr) c.18025G>A (p.Ala6009Thr) c.44068G>A (p.Ala14690Thr) c.39466G>A (p.Ala13156Thr) c.39463G>A (p.Ala13155Thr) c.36505G>A (p.Ala12169Thr) c.18121G>A (p.Ala6041Thr) c.39616G>A (p.Ala13206Thr) c.39613G>A (p.Ala13205Thr) c.39046G>A (p.Ala13016Thr) c.36388G>A (p.Ala12130Thr) c.36307G>A (p.Ala12103Thr) c.18070G>A (p.Ala6024Thr) c.7924G>A (p.Ala2642Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178621650G>A | CA283259 | TTN | c.37470C>T (p.Gly12490=) c.18555C>T (p.Gly6185=) c.18354C>T (p.Gly6118=) c.17979C>T (p.Gly5993=) c.45174C>T (p.Gly15058=) c.40251C>T (p.Gly13417=) c.44271C>T (p.Gly14757=) c.18165C>T (p.Gly6055=) c.18024C>T (p.Gly6008=) c.44067C>T (p.Gly14689=) c.39465C>T (p.Gly13155=) c.39462C>T (p.Gly13154=) c.36504C>T (p.Gly12168=) c.18120C>T (p.Gly6040=) c.39615C>T (p.Gly13205=) c.39612C>T (p.Gly13204=) c.39045C>T (p.Gly13015=) c.36387C>T (p.Gly12129=) c.36306C>T (p.Gly12102=) c.18069C>T (p.Gly6023=) c.7923C>T (p.Gly2641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178621650G>C | CA430276099 | TTN | c.37470C>G (p.Gly12490=) c.18555C>G (p.Gly6185=) c.18354C>G (p.Gly6118=) c.17979C>G (p.Gly5993=) c.45174C>G (p.Gly15058=) c.40251C>G (p.Gly13417=) c.44271C>G (p.Gly14757=) c.18165C>G (p.Gly6055=) c.18024C>G (p.Gly6008=) c.44067C>G (p.Gly14689=) c.39465C>G (p.Gly13155=) c.39462C>G (p.Gly13154=) c.36504C>G (p.Gly12168=) c.18120C>G (p.Gly6040=) c.39615C>G (p.Gly13205=) c.39612C>G (p.Gly13204=) c.39045C>G (p.Gly13015=) c.36387C>G (p.Gly12129=) c.36306C>G (p.Gly12102=) c.18069C>G (p.Gly6023=) c.7923C>G (p.Gly2641=) | |
| 2 | g.178621650G= | CA1310552298 | TTN | c.37470C= (p.Gly12490=) c.18555C= (p.Gly6185=) c.18354C= (p.Gly6118=) c.17979C= (p.Gly5993=) c.45174C= (p.Gly15058=) c.40251C= (p.Gly13417=) c.44271C= (p.Gly14757=) c.18165C= (p.Gly6055=) c.18024C= (p.Gly6008=) c.44067C= (p.Gly14689=) c.39465C= (p.Gly13155=) c.39462C= (p.Gly13154=) c.36504C= (p.Gly12168=) c.18120C= (p.Gly6040=) c.39615C= (p.Gly13205=) c.39612C= (p.Gly13204=) c.39045C= (p.Gly13015=) c.36387C= (p.Gly12129=) c.36306C= (p.Gly12102=) c.18069C= (p.Gly6023=) c.7923C= (p.Gly2641=) | |
| 2 | g.178621650G>T | CA60994624 | TTN | c.37470C>A (p.Gly12490=) c.18555C>A (p.Gly6185=) c.18354C>A (p.Gly6118=) c.17979C>A (p.Gly5993=) c.45174C>A (p.Gly15058=) c.40251C>A (p.Gly13417=) c.44271C>A (p.Gly14757=) c.18165C>A (p.Gly6055=) c.18024C>A (p.Gly6008=) c.44067C>A (p.Gly14689=) c.39465C>A (p.Gly13155=) c.39462C>A (p.Gly13154=) c.36504C>A (p.Gly12168=) c.18120C>A (p.Gly6040=) c.39615C>A (p.Gly13205=) c.39612C>A (p.Gly13204=) c.39045C>A (p.Gly13015=) c.36387C>A (p.Gly12129=) c.36306C>A (p.Gly12102=) c.18069C>A (p.Gly6023=) c.7923C>A (p.Gly2641=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178621651C>A | CA349635748 | TTN | c.37469G>T (p.Gly12490Val) c.18554G>T (p.Gly6185Val) c.18353G>T (p.Gly6118Val) c.17978G>T (p.Gly5993Val) c.45173G>T (p.Gly15058Val) c.40250G>T (p.Gly13417Val) c.44270G>T (p.Gly14757Val) c.18164G>T (p.Gly6055Val) c.18023G>T (p.Gly6008Val) c.44066G>T (p.Gly14689Val) c.39464G>T (p.Gly13155Val) c.39461G>T (p.Gly13154Val) c.36503G>T (p.Gly12168Val) c.18119G>T (p.Gly6040Val) c.39614G>T (p.Gly13205Val) c.39611G>T (p.Gly13204Val) c.39044G>T (p.Gly13015Val) c.36386G>T (p.Gly12129Val) c.36305G>T (p.Gly12102Val) c.18068G>T (p.Gly6023Val) c.7922G>T (p.Gly2641Val) | |
| 2 | g.178621651C= | CA1310552299 | TTN | c.37469G= (p.Gly12490=) c.18554G= (p.Gly6185=) c.18353G= (p.Gly6118=) c.17978G= (p.Gly5993=) c.45173G= (p.Gly15058=) c.40250G= (p.Gly13417=) c.44270G= (p.Gly14757=) c.18164G= (p.Gly6055=) c.18023G= (p.Gly6008=) c.44066G= (p.Gly14689=) c.39464G= (p.Gly13155=) c.39461G= (p.Gly13154=) c.36503G= (p.Gly12168=) c.18119G= (p.Gly6040=) c.39614G= (p.Gly13205=) c.39611G= (p.Gly13204=) c.39044G= (p.Gly13015=) c.36386G= (p.Gly12129=) c.36305G= (p.Gly12102=) c.18068G= (p.Gly6023=) c.7922G= (p.Gly2641=) | |
| 2 | g.178621651C>G | CA349635744 | TTN | c.37469G>C (p.Gly12490Ala) c.18554G>C (p.Gly6185Ala) c.18353G>C (p.Gly6118Ala) c.17978G>C (p.Gly5993Ala) c.45173G>C (p.Gly15058Ala) c.40250G>C (p.Gly13417Ala) c.44270G>C (p.Gly14757Ala) c.18164G>C (p.Gly6055Ala) c.18023G>C (p.Gly6008Ala) c.44066G>C (p.Gly14689Ala) c.39464G>C (p.Gly13155Ala) c.39461G>C (p.Gly13154Ala) c.36503G>C (p.Gly12168Ala) c.18119G>C (p.Gly6040Ala) c.39614G>C (p.Gly13205Ala) c.39611G>C (p.Gly13204Ala) c.39044G>C (p.Gly13015Ala) c.36386G>C (p.Gly12129Ala) c.36305G>C (p.Gly12102Ala) c.18068G>C (p.Gly6023Ala) c.7922G>C (p.Gly2641Ala) | |
| 2 | g.178621651C>T | CA349635746 | TTN | c.37469G>A (p.Gly12490Asp) c.18554G>A (p.Gly6185Asp) c.18353G>A (p.Gly6118Asp) c.17978G>A (p.Gly5993Asp) c.45173G>A (p.Gly15058Asp) c.40250G>A (p.Gly13417Asp) c.44270G>A (p.Gly14757Asp) c.18164G>A (p.Gly6055Asp) c.18023G>A (p.Gly6008Asp) c.44066G>A (p.Gly14689Asp) c.39464G>A (p.Gly13155Asp) c.39461G>A (p.Gly13154Asp) c.36503G>A (p.Gly12168Asp) c.18119G>A (p.Gly6040Asp) c.39614G>A (p.Gly13205Asp) c.39611G>A (p.Gly13204Asp) c.39044G>A (p.Gly13015Asp) c.36386G>A (p.Gly12129Asp) c.36305G>A (p.Gly12102Asp) c.18068G>A (p.Gly6023Asp) c.7922G>A (p.Gly2641Asp) | dbSNP |
| 2 | g.178621652C>A | CA349635750 | TTN | c.37468G>T (p.Gly12490Cys) c.18553G>T (p.Gly6185Cys) c.18352G>T (p.Gly6118Cys) c.17977G>T (p.Gly5993Cys) c.45172G>T (p.Gly15058Cys) c.40249G>T (p.Gly13417Cys) c.44269G>T (p.Gly14757Cys) c.18163G>T (p.Gly6055Cys) c.18022G>T (p.Gly6008Cys) c.44065G>T (p.Gly14689Cys) c.39463G>T (p.Gly13155Cys) c.39460G>T (p.Gly13154Cys) c.36502G>T (p.Gly12168Cys) c.18118G>T (p.Gly6040Cys) c.39613G>T (p.Gly13205Cys) c.39610G>T (p.Gly13204Cys) c.39043G>T (p.Gly13015Cys) c.36385G>T (p.Gly12129Cys) c.36304G>T (p.Gly12102Cys) c.18067G>T (p.Gly6023Cys) c.7921G>T (p.Gly2641Cys) | |
| 2 | g.178621652C>G | CA349635752 | TTN | c.37468G>C (p.Gly12490Arg) c.18553G>C (p.Gly6185Arg) c.18352G>C (p.Gly6118Arg) c.17977G>C (p.Gly5993Arg) c.45172G>C (p.Gly15058Arg) c.40249G>C (p.Gly13417Arg) c.44269G>C (p.Gly14757Arg) c.18163G>C (p.Gly6055Arg) c.18022G>C (p.Gly6008Arg) c.44065G>C (p.Gly14689Arg) c.39463G>C (p.Gly13155Arg) c.39460G>C (p.Gly13154Arg) c.36502G>C (p.Gly12168Arg) c.18118G>C (p.Gly6040Arg) c.39613G>C (p.Gly13205Arg) c.39610G>C (p.Gly13204Arg) c.39043G>C (p.Gly13015Arg) c.36385G>C (p.Gly12129Arg) c.36304G>C (p.Gly12102Arg) c.18067G>C (p.Gly6023Arg) c.7921G>C (p.Gly2641Arg) | |
| 2 | g.178621652C>T | CA349635753 | TTN | c.37468G>A (p.Gly12490Ser) c.18553G>A (p.Gly6185Ser) c.18352G>A (p.Gly6118Ser) c.17977G>A (p.Gly5993Ser) c.45172G>A (p.Gly15058Ser) c.40249G>A (p.Gly13417Ser) c.44269G>A (p.Gly14757Ser) c.18163G>A (p.Gly6055Ser) c.18022G>A (p.Gly6008Ser) c.44065G>A (p.Gly14689Ser) c.39463G>A (p.Gly13155Ser) c.39460G>A (p.Gly13154Ser) c.36502G>A (p.Gly12168Ser) c.18118G>A (p.Gly6040Ser) c.39613G>A (p.Gly13205Ser) c.39610G>A (p.Gly13204Ser) c.39043G>A (p.Gly13015Ser) c.36385G>A (p.Gly12129Ser) c.36304G>A (p.Gly12102Ser) c.18067G>A (p.Gly6023Ser) c.7921G>A (p.Gly2641Ser) | |
| 2 | g.178621653A>C | CA430276105 | TTN | c.37467T>G (p.Pro12489=) c.18552T>G (p.Pro6184=) c.18351T>G (p.Pro6117=) c.17976T>G (p.Pro5992=) c.45171T>G (p.Pro15057=) c.40248T>G (p.Pro13416=) c.44268T>G (p.Pro14756=) c.18162T>G (p.Pro6054=) c.18021T>G (p.Pro6007=) c.44064T>G (p.Pro14688=) c.39462T>G (p.Pro13154=) c.39459T>G (p.Pro13153=) c.36501T>G (p.Pro12167=) c.18117T>G (p.Pro6039=) c.39612T>G (p.Pro13204=) c.39609T>G (p.Pro13203=) c.39042T>G (p.Pro13014=) c.36384T>G (p.Pro12128=) c.36303T>G (p.Pro12101=) c.18066T>G (p.Pro6022=) c.7920T>G (p.Pro2640=) | gnomAD v4 |
| 2 | g.178621653A>G | CA430276107 | TTN | c.37467T>C (p.Pro12489=) c.18552T>C (p.Pro6184=) c.18351T>C (p.Pro6117=) c.17976T>C (p.Pro5992=) c.45171T>C (p.Pro15057=) c.40248T>C (p.Pro13416=) c.44268T>C (p.Pro14756=) c.18162T>C (p.Pro6054=) c.18021T>C (p.Pro6007=) c.44064T>C (p.Pro14688=) c.39462T>C (p.Pro13154=) c.39459T>C (p.Pro13153=) c.36501T>C (p.Pro12167=) c.18117T>C (p.Pro6039=) c.39612T>C (p.Pro13204=) c.39609T>C (p.Pro13203=) c.39042T>C (p.Pro13014=) c.36384T>C (p.Pro12128=) c.36303T>C (p.Pro12101=) c.18066T>C (p.Pro6022=) c.7920T>C (p.Pro2640=) | |
| 2 | g.178621653A>T | CA430276108 | TTN | c.37467T>A (p.Pro12489=) c.18552T>A (p.Pro6184=) c.18351T>A (p.Pro6117=) c.17976T>A (p.Pro5992=) c.45171T>A (p.Pro15057=) c.40248T>A (p.Pro13416=) c.44268T>A (p.Pro14756=) c.18162T>A (p.Pro6054=) c.18021T>A (p.Pro6007=) c.44064T>A (p.Pro14688=) c.39462T>A (p.Pro13154=) c.39459T>A (p.Pro13153=) c.36501T>A (p.Pro12167=) c.18117T>A (p.Pro6039=) c.39612T>A (p.Pro13204=) c.39609T>A (p.Pro13203=) c.39042T>A (p.Pro13014=) c.36384T>A (p.Pro12128=) c.36303T>A (p.Pro12101=) c.18066T>A (p.Pro6022=) c.7920T>A (p.Pro2640=) | |
| 2 | g.178621654G>A | CA349635755 | TTN | c.37466C>T (p.Pro12489Leu) c.18551C>T (p.Pro6184Leu) c.18350C>T (p.Pro6117Leu) c.17975C>T (p.Pro5992Leu) c.45170C>T (p.Pro15057Leu) c.40247C>T (p.Pro13416Leu) c.44267C>T (p.Pro14756Leu) c.18161C>T (p.Pro6054Leu) c.18020C>T (p.Pro6007Leu) c.44063C>T (p.Pro14688Leu) c.39461C>T (p.Pro13154Leu) c.39458C>T (p.Pro13153Leu) c.36500C>T (p.Pro12167Leu) c.18116C>T (p.Pro6039Leu) c.39611C>T (p.Pro13204Leu) c.39608C>T (p.Pro13203Leu) c.39041C>T (p.Pro13014Leu) c.36383C>T (p.Pro12128Leu) c.36302C>T (p.Pro12101Leu) c.18065C>T (p.Pro6022Leu) c.7919C>T (p.Pro2640Leu) | |
| 2 | g.178621654G>C | CA349635757 | TTN | c.37466C>G (p.Pro12489Arg) c.18551C>G (p.Pro6184Arg) c.18350C>G (p.Pro6117Arg) c.17975C>G (p.Pro5992Arg) c.45170C>G (p.Pro15057Arg) c.40247C>G (p.Pro13416Arg) c.44267C>G (p.Pro14756Arg) c.18161C>G (p.Pro6054Arg) c.18020C>G (p.Pro6007Arg) c.44063C>G (p.Pro14688Arg) c.39461C>G (p.Pro13154Arg) c.39458C>G (p.Pro13153Arg) c.36500C>G (p.Pro12167Arg) c.18116C>G (p.Pro6039Arg) c.39611C>G (p.Pro13204Arg) c.39608C>G (p.Pro13203Arg) c.39041C>G (p.Pro13014Arg) c.36383C>G (p.Pro12128Arg) c.36302C>G (p.Pro12101Arg) c.18065C>G (p.Pro6022Arg) c.7919C>G (p.Pro2640Arg) | |
| 2 | g.178621654G>T | CA349635759 | TTN | c.37466C>A (p.Pro12489His) c.18551C>A (p.Pro6184His) c.18350C>A (p.Pro6117His) c.17975C>A (p.Pro5992His) c.45170C>A (p.Pro15057His) c.40247C>A (p.Pro13416His) c.44267C>A (p.Pro14756His) c.18161C>A (p.Pro6054His) c.18020C>A (p.Pro6007His) c.44063C>A (p.Pro14688His) c.39461C>A (p.Pro13154His) c.39458C>A (p.Pro13153His) c.36500C>A (p.Pro12167His) c.18116C>A (p.Pro6039His) c.39611C>A (p.Pro13204His) c.39608C>A (p.Pro13203His) c.39041C>A (p.Pro13014His) c.36383C>A (p.Pro12128His) c.36302C>A (p.Pro12101His) c.18065C>A (p.Pro6022His) c.7919C>A (p.Pro2640His) | |
| 2 | g.178621655G>A | CA349635762 | TTN | c.37465C>T (p.Pro12489Ser) c.18550C>T (p.Pro6184Ser) c.18349C>T (p.Pro6117Ser) c.17974C>T (p.Pro5992Ser) c.45169C>T (p.Pro15057Ser) c.40246C>T (p.Pro13416Ser) c.44266C>T (p.Pro14756Ser) c.18160C>T (p.Pro6054Ser) c.18019C>T (p.Pro6007Ser) c.44062C>T (p.Pro14688Ser) c.39460C>T (p.Pro13154Ser) c.39457C>T (p.Pro13153Ser) c.36499C>T (p.Pro12167Ser) c.18115C>T (p.Pro6039Ser) c.39610C>T (p.Pro13204Ser) c.39607C>T (p.Pro13203Ser) c.39040C>T (p.Pro13014Ser) c.36382C>T (p.Pro12128Ser) c.36301C>T (p.Pro12101Ser) c.18064C>T (p.Pro6022Ser) c.7918C>T (p.Pro2640Ser) | gnomAD v4 |
| 2 | g.178621655G>C | CA349635763 | TTN | c.37465C>G (p.Pro12489Ala) c.18550C>G (p.Pro6184Ala) c.18349C>G (p.Pro6117Ala) c.17974C>G (p.Pro5992Ala) c.45169C>G (p.Pro15057Ala) c.40246C>G (p.Pro13416Ala) c.44266C>G (p.Pro14756Ala) c.18160C>G (p.Pro6054Ala) c.18019C>G (p.Pro6007Ala) c.44062C>G (p.Pro14688Ala) c.39460C>G (p.Pro13154Ala) c.39457C>G (p.Pro13153Ala) c.36499C>G (p.Pro12167Ala) c.18115C>G (p.Pro6039Ala) c.39610C>G (p.Pro13204Ala) c.39607C>G (p.Pro13203Ala) c.39040C>G (p.Pro13014Ala) c.36382C>G (p.Pro12128Ala) c.36301C>G (p.Pro12101Ala) c.18064C>G (p.Pro6022Ala) c.7918C>G (p.Pro2640Ala) |