Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178630326A>CCA430113562TTNc.36492T>G (p.Val12164=)
c.17577T>G (p.Val5859=)
c.17376T>G (p.Val5792=)
c.17001T>G (p.Val5667=)
c.44196T>G (p.Val14732=)
c.39273T>G (p.Val13091=)
c.43293T>G (p.Val14431=)
c.17187T>G (p.Val5729=)
c.17046T>G (p.Val5682=)
c.43089T>G (p.Val14363=)
c.38487T>G (p.Val12829=)
c.38484T>G (p.Val12828=)
c.35526T>G (p.Val11842=)
c.17142T>G (p.Val5714=)
c.38637T>G (p.Val12879=)
c.38634T>G (p.Val12878=)
c.38067T>G (p.Val12689=)
c.35409T>G (p.Val11803=)
c.35328T>G (p.Val11776=)
c.17091T>G (p.Val5697=)
c.6945T>G (p.Val2315=)
2g.178630326A>GCA430113564TTNc.36492T>C (p.Val12164=)
c.17577T>C (p.Val5859=)
c.17376T>C (p.Val5792=)
c.17001T>C (p.Val5667=)
c.44196T>C (p.Val14732=)
c.39273T>C (p.Val13091=)
c.43293T>C (p.Val14431=)
c.17187T>C (p.Val5729=)
c.17046T>C (p.Val5682=)
c.43089T>C (p.Val14363=)
c.38487T>C (p.Val12829=)
c.38484T>C (p.Val12828=)
c.35526T>C (p.Val11842=)
c.17142T>C (p.Val5714=)
c.38637T>C (p.Val12879=)
c.38634T>C (p.Val12878=)
c.38067T>C (p.Val12689=)
c.35409T>C (p.Val11803=)
c.35328T>C (p.Val11776=)
c.17091T>C (p.Val5697=)
c.6945T>C (p.Val2315=)
2g.178630326A>TCA430113563TTNc.36492T>A (p.Val12164=)
c.17577T>A (p.Val5859=)
c.17376T>A (p.Val5792=)
c.17001T>A (p.Val5667=)
c.44196T>A (p.Val14732=)
c.39273T>A (p.Val13091=)
c.43293T>A (p.Val14431=)
c.17187T>A (p.Val5729=)
c.17046T>A (p.Val5682=)
c.43089T>A (p.Val14363=)
c.38487T>A (p.Val12829=)
c.38484T>A (p.Val12828=)
c.35526T>A (p.Val11842=)
c.17142T>A (p.Val5714=)
c.38637T>A (p.Val12879=)
c.38634T>A (p.Val12878=)
c.38067T>A (p.Val12689=)
c.35409T>A (p.Val11803=)
c.35328T>A (p.Val11776=)
c.17091T>A (p.Val5697=)
c.6945T>A (p.Val2315=)
2g.178630327A>CCA349645619TTNc.36491T>G (p.Val12164Gly)
c.17576T>G (p.Val5859Gly)
c.17375T>G (p.Val5792Gly)
c.17000T>G (p.Val5667Gly)
c.44195T>G (p.Val14732Gly)
c.39272T>G (p.Val13091Gly)
c.43292T>G (p.Val14431Gly)
c.17186T>G (p.Val5729Gly)
c.17045T>G (p.Val5682Gly)
c.43088T>G (p.Val14363Gly)
c.38486T>G (p.Val12829Gly)
c.38483T>G (p.Val12828Gly)
c.35525T>G (p.Val11842Gly)
c.17141T>G (p.Val5714Gly)
c.38636T>G (p.Val12879Gly)
c.38633T>G (p.Val12878Gly)
c.38066T>G (p.Val12689Gly)
c.35408T>G (p.Val11803Gly)
c.35327T>G (p.Val11776Gly)
c.17090T>G (p.Val5697Gly)
c.6944T>G (p.Val2315Gly)
2g.178630327A>GCA349645622TTNc.36491T>C (p.Val12164Ala)
c.17576T>C (p.Val5859Ala)
c.17375T>C (p.Val5792Ala)
c.17000T>C (p.Val5667Ala)
c.44195T>C (p.Val14732Ala)
c.39272T>C (p.Val13091Ala)
c.43292T>C (p.Val14431Ala)
c.17186T>C (p.Val5729Ala)
c.17045T>C (p.Val5682Ala)
c.43088T>C (p.Val14363Ala)
c.38486T>C (p.Val12829Ala)
c.38483T>C (p.Val12828Ala)
c.35525T>C (p.Val11842Ala)
c.17141T>C (p.Val5714Ala)
c.38636T>C (p.Val12879Ala)
c.38633T>C (p.Val12878Ala)
c.38066T>C (p.Val12689Ala)
c.35408T>C (p.Val11803Ala)
c.35327T>C (p.Val11776Ala)
c.17090T>C (p.Val5697Ala)
c.6944T>C (p.Val2315Ala)
2g.178630327A>TCA349645623TTNc.36491T>A (p.Val12164Asp)
c.17576T>A (p.Val5859Asp)
c.17375T>A (p.Val5792Asp)
c.17000T>A (p.Val5667Asp)
c.44195T>A (p.Val14732Asp)
c.39272T>A (p.Val13091Asp)
c.43292T>A (p.Val14431Asp)
c.17186T>A (p.Val5729Asp)
c.17045T>A (p.Val5682Asp)
c.43088T>A (p.Val14363Asp)
c.38486T>A (p.Val12829Asp)
c.38483T>A (p.Val12828Asp)
c.35525T>A (p.Val11842Asp)
c.17141T>A (p.Val5714Asp)
c.38636T>A (p.Val12879Asp)
c.38633T>A (p.Val12878Asp)
c.38066T>A (p.Val12689Asp)
c.35408T>A (p.Val11803Asp)
c.35327T>A (p.Val11776Asp)
c.17090T>A (p.Val5697Asp)
c.6944T>A (p.Val2315Asp)
2g.178630328C>ACA349645625TTNc.36490G>T (p.Val12164Phe)
c.17575G>T (p.Val5859Phe)
c.17374G>T (p.Val5792Phe)
c.16999G>T (p.Val5667Phe)
c.44194G>T (p.Val14732Phe)
c.39271G>T (p.Val13091Phe)
c.43291G>T (p.Val14431Phe)
c.17185G>T (p.Val5729Phe)
c.17044G>T (p.Val5682Phe)
c.43087G>T (p.Val14363Phe)
c.38485G>T (p.Val12829Phe)
c.38482G>T (p.Val12828Phe)
c.35524G>T (p.Val11842Phe)
c.17140G>T (p.Val5714Phe)
c.38635G>T (p.Val12879Phe)
c.38632G>T (p.Val12878Phe)
c.38065G>T (p.Val12689Phe)
c.35407G>T (p.Val11803Phe)
c.35326G>T (p.Val11776Phe)
c.17089G>T (p.Val5697Phe)
c.6943G>T (p.Val2315Phe)
2g.178630328C>GCA349645628TTNc.36490G>C (p.Val12164Leu)
c.17575G>C (p.Val5859Leu)
c.17374G>C (p.Val5792Leu)
c.16999G>C (p.Val5667Leu)
c.44194G>C (p.Val14732Leu)
c.39271G>C (p.Val13091Leu)
c.43291G>C (p.Val14431Leu)
c.17185G>C (p.Val5729Leu)
c.17044G>C (p.Val5682Leu)
c.43087G>C (p.Val14363Leu)
c.38485G>C (p.Val12829Leu)
c.38482G>C (p.Val12828Leu)
c.35524G>C (p.Val11842Leu)
c.17140G>C (p.Val5714Leu)
c.38635G>C (p.Val12879Leu)
c.38632G>C (p.Val12878Leu)
c.38065G>C (p.Val12689Leu)
c.35407G>C (p.Val11803Leu)
c.35326G>C (p.Val11776Leu)
c.17089G>C (p.Val5697Leu)
c.6943G>C (p.Val2315Leu)
2g.178630328C>TCA349645631TTNc.36490G>A (p.Val12164Ile)
c.17575G>A (p.Val5859Ile)
c.17374G>A (p.Val5792Ile)
c.16999G>A (p.Val5667Ile)
c.44194G>A (p.Val14732Ile)
c.39271G>A (p.Val13091Ile)
c.43291G>A (p.Val14431Ile)
c.17185G>A (p.Val5729Ile)
c.17044G>A (p.Val5682Ile)
c.43087G>A (p.Val14363Ile)
c.38485G>A (p.Val12829Ile)
c.38482G>A (p.Val12828Ile)
c.35524G>A (p.Val11842Ile)
c.17140G>A (p.Val5714Ile)
c.38635G>A (p.Val12879Ile)
c.38632G>A (p.Val12878Ile)
c.38065G>A (p.Val12689Ile)
c.35407G>A (p.Val11803Ile)
c.35326G>A (p.Val11776Ile)
c.17089G>A (p.Val5697Ile)
c.6943G>A (p.Val2315Ile)
2g.178630329A=CA1310555930TTNc.36489T= (p.Leu12163=)
c.17574T= (p.Leu5858=)
c.17373T= (p.Leu5791=)
c.16998T= (p.Leu5666=)
c.44193T= (p.Leu14731=)
c.39270T= (p.Leu13090=)
c.43290T= (p.Leu14430=)
c.17184T= (p.Leu5728=)
c.17043T= (p.Leu5681=)
c.43086T= (p.Leu14362=)
c.38484T= (p.Leu12828=)
c.38481T= (p.Leu12827=)
c.35523T= (p.Leu11841=)
c.17139T= (p.Leu5713=)
c.38634T= (p.Leu12878=)
c.38631T= (p.Leu12877=)
c.38064T= (p.Leu12688=)
c.35406T= (p.Leu11802=)
c.35325T= (p.Leu11775=)
c.17088T= (p.Leu5696=)
c.6942T= (p.Leu2314=)
2g.178630329A>CCA430113570TTNc.36489T>G (p.Leu12163=)
c.17574T>G (p.Leu5858=)
c.17373T>G (p.Leu5791=)
c.16998T>G (p.Leu5666=)
c.44193T>G (p.Leu14731=)
c.39270T>G (p.Leu13090=)
c.43290T>G (p.Leu14430=)
c.17184T>G (p.Leu5728=)
c.17043T>G (p.Leu5681=)
c.43086T>G (p.Leu14362=)
c.38484T>G (p.Leu12828=)
c.38481T>G (p.Leu12827=)
c.35523T>G (p.Leu11841=)
c.17139T>G (p.Leu5713=)
c.38634T>G (p.Leu12878=)
c.38631T>G (p.Leu12877=)
c.38064T>G (p.Leu12688=)
c.35406T>G (p.Leu11802=)
c.35325T>G (p.Leu11775=)
c.17088T>G (p.Leu5696=)
c.6942T>G (p.Leu2314=)
 ClinVar dbSNP gnomAD v4
2g.178630329A>GCA430113571TTNc.36489T>C (p.Leu12163=)
c.17574T>C (p.Leu5858=)
c.17373T>C (p.Leu5791=)
c.16998T>C (p.Leu5666=)
c.44193T>C (p.Leu14731=)
c.39270T>C (p.Leu13090=)
c.43290T>C (p.Leu14430=)
c.17184T>C (p.Leu5728=)
c.17043T>C (p.Leu5681=)
c.43086T>C (p.Leu14362=)
c.38484T>C (p.Leu12828=)
c.38481T>C (p.Leu12827=)
c.35523T>C (p.Leu11841=)
c.17139T>C (p.Leu5713=)
c.38634T>C (p.Leu12878=)
c.38631T>C (p.Leu12877=)
c.38064T>C (p.Leu12688=)
c.35406T>C (p.Leu11802=)
c.35325T>C (p.Leu11775=)
c.17088T>C (p.Leu5696=)
c.6942T>C (p.Leu2314=)
 COSMIC COSMIC COSMIC COSMIC
2g.178630329A>TCA430113573TTNc.36489T>A (p.Leu12163=)
c.17574T>A (p.Leu5858=)
c.17373T>A (p.Leu5791=)
c.16998T>A (p.Leu5666=)
c.44193T>A (p.Leu14731=)
c.39270T>A (p.Leu13090=)
c.43290T>A (p.Leu14430=)
c.17184T>A (p.Leu5728=)
c.17043T>A (p.Leu5681=)
c.43086T>A (p.Leu14362=)
c.38484T>A (p.Leu12828=)
c.38481T>A (p.Leu12827=)
c.35523T>A (p.Leu11841=)
c.17139T>A (p.Leu5713=)
c.38634T>A (p.Leu12878=)
c.38631T>A (p.Leu12877=)
c.38064T>A (p.Leu12688=)
c.35406T>A (p.Leu11802=)
c.35325T>A (p.Leu11775=)
c.17088T>A (p.Leu5696=)
c.6942T>A (p.Leu2314=)
2g.178630330A>CCA349645632TTNc.36488T>G (p.Leu12163Arg)
c.17573T>G (p.Leu5858Arg)
c.17372T>G (p.Leu5791Arg)
c.16997T>G (p.Leu5666Arg)
c.44192T>G (p.Leu14731Arg)
c.39269T>G (p.Leu13090Arg)
c.43289T>G (p.Leu14430Arg)
c.17183T>G (p.Leu5728Arg)
c.17042T>G (p.Leu5681Arg)
c.43085T>G (p.Leu14362Arg)
c.38483T>G (p.Leu12828Arg)
c.38480T>G (p.Leu12827Arg)
c.35522T>G (p.Leu11841Arg)
c.17138T>G (p.Leu5713Arg)
c.38633T>G (p.Leu12878Arg)
c.38630T>G (p.Leu12877Arg)
c.38063T>G (p.Leu12688Arg)
c.35405T>G (p.Leu11802Arg)
c.35324T>G (p.Leu11775Arg)
c.17087T>G (p.Leu5696Arg)
c.6941T>G (p.Leu2314Arg)
2g.178630330A>GCA349645634TTNc.36488T>C (p.Leu12163Pro)
c.17573T>C (p.Leu5858Pro)
c.17372T>C (p.Leu5791Pro)
c.16997T>C (p.Leu5666Pro)
c.44192T>C (p.Leu14731Pro)
c.39269T>C (p.Leu13090Pro)
c.43289T>C (p.Leu14430Pro)
c.17183T>C (p.Leu5728Pro)
c.17042T>C (p.Leu5681Pro)
c.43085T>C (p.Leu14362Pro)
c.38483T>C (p.Leu12828Pro)
c.38480T>C (p.Leu12827Pro)
c.35522T>C (p.Leu11841Pro)
c.17138T>C (p.Leu5713Pro)
c.38633T>C (p.Leu12878Pro)
c.38630T>C (p.Leu12877Pro)
c.38063T>C (p.Leu12688Pro)
c.35405T>C (p.Leu11802Pro)
c.35324T>C (p.Leu11775Pro)
c.17087T>C (p.Leu5696Pro)
c.6941T>C (p.Leu2314Pro)
2g.178630330A>TCA349645633TTNc.36488T>A (p.Leu12163His)
c.17573T>A (p.Leu5858His)
c.17372T>A (p.Leu5791His)
c.16997T>A (p.Leu5666His)
c.44192T>A (p.Leu14731His)
c.39269T>A (p.Leu13090His)
c.43289T>A (p.Leu14430His)
c.17183T>A (p.Leu5728His)
c.17042T>A (p.Leu5681His)
c.43085T>A (p.Leu14362His)
c.38483T>A (p.Leu12828His)
c.38480T>A (p.Leu12827His)
c.35522T>A (p.Leu11841His)
c.17138T>A (p.Leu5713His)
c.38633T>A (p.Leu12878His)
c.38630T>A (p.Leu12877His)
c.38063T>A (p.Leu12688His)
c.35405T>A (p.Leu11802His)
c.35324T>A (p.Leu11775His)
c.17087T>A (p.Leu5696His)
c.6941T>A (p.Leu2314His)
2g.178630331G>ACA1995723TTNc.36487C>T (p.Leu12163Phe)
c.17572C>T (p.Leu5858Phe)
c.17371C>T (p.Leu5791Phe)
c.16996C>T (p.Leu5666Phe)
c.44191C>T (p.Leu14731Phe)
c.39268C>T (p.Leu13090Phe)
c.43288C>T (p.Leu14430Phe)
c.17182C>T (p.Leu5728Phe)
c.17041C>T (p.Leu5681Phe)
c.43084C>T (p.Leu14362Phe)
c.38482C>T (p.Leu12828Phe)
c.38479C>T (p.Leu12827Phe)
c.35521C>T (p.Leu11841Phe)
c.17137C>T (p.Leu5713Phe)
c.38632C>T (p.Leu12878Phe)
c.38629C>T (p.Leu12877Phe)
c.38062C>T (p.Leu12688Phe)
c.35404C>T (p.Leu11802Phe)
c.35323C>T (p.Leu11775Phe)
c.17086C>T (p.Leu5696Phe)
c.6940C>T (p.Leu2314Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178630331G>CCA349645635TTNc.36487C>G (p.Leu12163Val)
c.17572C>G (p.Leu5858Val)
c.17371C>G (p.Leu5791Val)
c.16996C>G (p.Leu5666Val)
c.44191C>G (p.Leu14731Val)
c.39268C>G (p.Leu13090Val)
c.43288C>G (p.Leu14430Val)
c.17182C>G (p.Leu5728Val)
c.17041C>G (p.Leu5681Val)
c.43084C>G (p.Leu14362Val)
c.38482C>G (p.Leu12828Val)
c.38479C>G (p.Leu12827Val)
c.35521C>G (p.Leu11841Val)
c.17137C>G (p.Leu5713Val)
c.38632C>G (p.Leu12878Val)
c.38629C>G (p.Leu12877Val)
c.38062C>G (p.Leu12688Val)
c.35404C>G (p.Leu11802Val)
c.35323C>G (p.Leu11775Val)
c.17086C>G (p.Leu5696Val)
c.6940C>G (p.Leu2314Val)
2g.178630331G=CA1310555931TTNc.36487C= (p.Leu12163=)
c.17572C= (p.Leu5858=)
c.17371C= (p.Leu5791=)
c.16996C= (p.Leu5666=)
c.44191C= (p.Leu14731=)
c.39268C= (p.Leu13090=)
c.43288C= (p.Leu14430=)
c.17182C= (p.Leu5728=)
c.17041C= (p.Leu5681=)
c.43084C= (p.Leu14362=)
c.38482C= (p.Leu12828=)
c.38479C= (p.Leu12827=)
c.35521C= (p.Leu11841=)
c.17137C= (p.Leu5713=)
c.38632C= (p.Leu12878=)
c.38629C= (p.Leu12877=)
c.38062C= (p.Leu12688=)
c.35404C= (p.Leu11802=)
c.35323C= (p.Leu11775=)
c.17086C= (p.Leu5696=)
c.6940C= (p.Leu2314=)
2g.178630331G>TCA349645638TTNc.36487C>A (p.Leu12163Ile)
c.17572C>A (p.Leu5858Ile)
c.17371C>A (p.Leu5791Ile)
c.16996C>A (p.Leu5666Ile)
c.44191C>A (p.Leu14731Ile)
c.39268C>A (p.Leu13090Ile)
c.43288C>A (p.Leu14430Ile)
c.17182C>A (p.Leu5728Ile)
c.17041C>A (p.Leu5681Ile)
c.43084C>A (p.Leu14362Ile)
c.38482C>A (p.Leu12828Ile)
c.38479C>A (p.Leu12827Ile)
c.35521C>A (p.Leu11841Ile)
c.17137C>A (p.Leu5713Ile)
c.38632C>A (p.Leu12878Ile)
c.38629C>A (p.Leu12877Ile)
c.38062C>A (p.Leu12688Ile)
c.35404C>A (p.Leu11802Ile)
c.35323C>A (p.Leu11775Ile)
c.17086C>A (p.Leu5696Ile)
c.6940C>A (p.Leu2314Ile)
2g.178630332G>ACA61001001TTNc.36486C>T (p.Ser12162=)
c.17571C>T (p.Ser5857=)
c.17370C>T (p.Ser5790=)
c.16995C>T (p.Ser5665=)
c.44190C>T (p.Ser14730=)
c.39267C>T (p.Ser13089=)
c.43287C>T (p.Ser14429=)
c.17181C>T (p.Ser5727=)
c.17040C>T (p.Ser5680=)
c.43083C>T (p.Ser14361=)
c.38481C>T (p.Ser12827=)
c.38478C>T (p.Ser12826=)
c.35520C>T (p.Ser11840=)
c.17136C>T (p.Ser5712=)
c.38631C>T (p.Ser12877=)
c.38628C>T (p.Ser12876=)
c.38061C>T (p.Ser12687=)
c.35403C>T (p.Ser11801=)
c.35322C>T (p.Ser11774=)
c.17085C>T (p.Ser5695=)
c.6939C>T (p.Ser2313=)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178630332G>CCA430113580TTNc.36486C>G (p.Ser12162=)
c.17571C>G (p.Ser5857=)
c.17370C>G (p.Ser5790=)
c.16995C>G (p.Ser5665=)
c.44190C>G (p.Ser14730=)
c.39267C>G (p.Ser13089=)
c.43287C>G (p.Ser14429=)
c.17181C>G (p.Ser5727=)
c.17040C>G (p.Ser5680=)
c.43083C>G (p.Ser14361=)
c.38481C>G (p.Ser12827=)
c.38478C>G (p.Ser12826=)
c.35520C>G (p.Ser11840=)
c.17136C>G (p.Ser5712=)
c.38631C>G (p.Ser12877=)
c.38628C>G (p.Ser12876=)
c.38061C>G (p.Ser12687=)
c.35403C>G (p.Ser11801=)
c.35322C>G (p.Ser11774=)
c.17085C>G (p.Ser5695=)
c.6939C>G (p.Ser2313=)
2g.178630332G=CA1310555932TTNc.36486C= (p.Ser12162=)
c.17571C= (p.Ser5857=)
c.17370C= (p.Ser5790=)
c.16995C= (p.Ser5665=)
c.44190C= (p.Ser14730=)
c.39267C= (p.Ser13089=)
c.43287C= (p.Ser14429=)
c.17181C= (p.Ser5727=)
c.17040C= (p.Ser5680=)
c.43083C= (p.Ser14361=)
c.38481C= (p.Ser12827=)
c.38478C= (p.Ser12826=)
c.35520C= (p.Ser11840=)
c.17136C= (p.Ser5712=)
c.38631C= (p.Ser12877=)
c.38628C= (p.Ser12876=)
c.38061C= (p.Ser12687=)
c.35403C= (p.Ser11801=)
c.35322C= (p.Ser11774=)
c.17085C= (p.Ser5695=)
c.6939C= (p.Ser2313=)
2g.178630332G>TCA430113581TTNc.36486C>A (p.Ser12162=)
c.17571C>A (p.Ser5857=)
c.17370C>A (p.Ser5790=)
c.16995C>A (p.Ser5665=)
c.44190C>A (p.Ser14730=)
c.39267C>A (p.Ser13089=)
c.43287C>A (p.Ser14429=)
c.17181C>A (p.Ser5727=)
c.17040C>A (p.Ser5680=)
c.43083C>A (p.Ser14361=)
c.38481C>A (p.Ser12827=)
c.38478C>A (p.Ser12826=)
c.35520C>A (p.Ser11840=)
c.17136C>A (p.Ser5712=)
c.38631C>A (p.Ser12877=)
c.38628C>A (p.Ser12876=)
c.38061C>A (p.Ser12687=)
c.35403C>A (p.Ser11801=)
c.35322C>A (p.Ser11774=)
c.17085C>A (p.Ser5695=)
c.6939C>A (p.Ser2313=)
2g.178630333G>ACA349645641TTNc.36485C>T (p.Ser12162Phe)
c.17570C>T (p.Ser5857Phe)
c.17369C>T (p.Ser5790Phe)
c.16994C>T (p.Ser5665Phe)
c.44189C>T (p.Ser14730Phe)
c.39266C>T (p.Ser13089Phe)
c.43286C>T (p.Ser14429Phe)
c.17180C>T (p.Ser5727Phe)
c.17039C>T (p.Ser5680Phe)
c.43082C>T (p.Ser14361Phe)
c.38480C>T (p.Ser12827Phe)
c.38477C>T (p.Ser12826Phe)
c.35519C>T (p.Ser11840Phe)
c.17135C>T (p.Ser5712Phe)
c.38630C>T (p.Ser12877Phe)
c.38627C>T (p.Ser12876Phe)
c.38060C>T (p.Ser12687Phe)
c.35402C>T (p.Ser11801Phe)
c.35321C>T (p.Ser11774Phe)
c.17084C>T (p.Ser5695Phe)
c.6938C>T (p.Ser2313Phe)
 gnomAD v4
2g.178630333G>CCA349645644TTNc.36485C>G (p.Ser12162Cys)
c.17570C>G (p.Ser5857Cys)
c.17369C>G (p.Ser5790Cys)
c.16994C>G (p.Ser5665Cys)
c.44189C>G (p.Ser14730Cys)
c.39266C>G (p.Ser13089Cys)
c.43286C>G (p.Ser14429Cys)
c.17180C>G (p.Ser5727Cys)
c.17039C>G (p.Ser5680Cys)
c.43082C>G (p.Ser14361Cys)
c.38480C>G (p.Ser12827Cys)
c.38477C>G (p.Ser12826Cys)
c.35519C>G (p.Ser11840Cys)
c.17135C>G (p.Ser5712Cys)
c.38630C>G (p.Ser12877Cys)
c.38627C>G (p.Ser12876Cys)
c.38060C>G (p.Ser12687Cys)
c.35402C>G (p.Ser11801Cys)
c.35321C>G (p.Ser11774Cys)
c.17084C>G (p.Ser5695Cys)
c.6938C>G (p.Ser2313Cys)
 COSMIC COSMIC COSMIC COSMIC
2g.178630333G>TCA349645642TTNc.36485C>A (p.Ser12162Tyr)
c.17570C>A (p.Ser5857Tyr)
c.17369C>A (p.Ser5790Tyr)
c.16994C>A (p.Ser5665Tyr)
c.44189C>A (p.Ser14730Tyr)
c.39266C>A (p.Ser13089Tyr)
c.43286C>A (p.Ser14429Tyr)
c.17180C>A (p.Ser5727Tyr)
c.17039C>A (p.Ser5680Tyr)
c.43082C>A (p.Ser14361Tyr)
c.38480C>A (p.Ser12827Tyr)
c.38477C>A (p.Ser12826Tyr)
c.35519C>A (p.Ser11840Tyr)
c.17135C>A (p.Ser5712Tyr)
c.38630C>A (p.Ser12877Tyr)
c.38627C>A (p.Ser12876Tyr)
c.38060C>A (p.Ser12687Tyr)
c.35402C>A (p.Ser11801Tyr)
c.35321C>A (p.Ser11774Tyr)
c.17084C>A (p.Ser5695Tyr)
c.6938C>A (p.Ser2313Tyr)
2g.178630334A>CCA349645647TTNc.36484T>G (p.Ser12162Ala)
c.17569T>G (p.Ser5857Ala)
c.17368T>G (p.Ser5790Ala)
c.16993T>G (p.Ser5665Ala)
c.44188T>G (p.Ser14730Ala)
c.39265T>G (p.Ser13089Ala)
c.43285T>G (p.Ser14429Ala)
c.17179T>G (p.Ser5727Ala)
c.17038T>G (p.Ser5680Ala)
c.43081T>G (p.Ser14361Ala)
c.38479T>G (p.Ser12827Ala)
c.38476T>G (p.Ser12826Ala)
c.35518T>G (p.Ser11840Ala)
c.17134T>G (p.Ser5712Ala)
c.38629T>G (p.Ser12877Ala)
c.38626T>G (p.Ser12876Ala)
c.38059T>G (p.Ser12687Ala)
c.35401T>G (p.Ser11801Ala)
c.35320T>G (p.Ser11774Ala)
c.17083T>G (p.Ser5695Ala)
c.6937T>G (p.Ser2313Ala)
2g.178630334A>GCA349645650TTNc.36484T>C (p.Ser12162Pro)
c.17569T>C (p.Ser5857Pro)
c.17368T>C (p.Ser5790Pro)
c.16993T>C (p.Ser5665Pro)
c.44188T>C (p.Ser14730Pro)
c.39265T>C (p.Ser13089Pro)
c.43285T>C (p.Ser14429Pro)
c.17179T>C (p.Ser5727Pro)
c.17038T>C (p.Ser5680Pro)
c.43081T>C (p.Ser14361Pro)
c.38479T>C (p.Ser12827Pro)
c.38476T>C (p.Ser12826Pro)
c.35518T>C (p.Ser11840Pro)
c.17134T>C (p.Ser5712Pro)
c.38629T>C (p.Ser12877Pro)
c.38626T>C (p.Ser12876Pro)
c.38059T>C (p.Ser12687Pro)
c.35401T>C (p.Ser11801Pro)
c.35320T>C (p.Ser11774Pro)
c.17083T>C (p.Ser5695Pro)
c.6937T>C (p.Ser2313Pro)
2g.178630334A>TCA349645653TTNc.36484T>A (p.Ser12162Thr)
c.17569T>A (p.Ser5857Thr)
c.17368T>A (p.Ser5790Thr)
c.16993T>A (p.Ser5665Thr)
c.44188T>A (p.Ser14730Thr)
c.39265T>A (p.Ser13089Thr)
c.43285T>A (p.Ser14429Thr)
c.17179T>A (p.Ser5727Thr)
c.17038T>A (p.Ser5680Thr)
c.43081T>A (p.Ser14361Thr)
c.38479T>A (p.Ser12827Thr)
c.38476T>A (p.Ser12826Thr)
c.35518T>A (p.Ser11840Thr)
c.17134T>A (p.Ser5712Thr)
c.38629T>A (p.Ser12877Thr)
c.38626T>A (p.Ser12876Thr)
c.38059T>A (p.Ser12687Thr)
c.35401T>A (p.Ser11801Thr)
c.35320T>A (p.Ser11774Thr)
c.17083T>A (p.Ser5695Thr)
c.6937T>A (p.Ser2313Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178630335G>ACA430113583TTNc.36483C>T (p.His12161=)
c.17568C>T (p.His5856=)
c.17367C>T (p.His5789=)
c.16992C>T (p.His5664=)
c.44187C>T (p.His14729=)
c.39264C>T (p.His13088=)
c.43284C>T (p.His14428=)
c.17178C>T (p.His5726=)
c.17037C>T (p.His5679=)
c.43080C>T (p.His14360=)
c.38478C>T (p.His12826=)
c.38475C>T (p.His12825=)
c.35517C>T (p.His11839=)
c.17133C>T (p.His5711=)
c.38628C>T (p.His12876=)
c.38625C>T (p.His12875=)
c.38058C>T (p.His12686=)
c.35400C>T (p.His11800=)
c.35319C>T (p.His11773=)
c.17082C>T (p.His5694=)
c.6936C>T (p.His2312=)
 gnomAD v4
2g.178630335G>CCA349645655TTNc.36483C>G (p.His12161Gln)
c.17568C>G (p.His5856Gln)
c.17367C>G (p.His5789Gln)
c.16992C>G (p.His5664Gln)
c.44187C>G (p.His14729Gln)
c.39264C>G (p.His13088Gln)
c.43284C>G (p.His14428Gln)
c.17178C>G (p.His5726Gln)
c.17037C>G (p.His5679Gln)
c.43080C>G (p.His14360Gln)
c.38478C>G (p.His12826Gln)
c.38475C>G (p.His12825Gln)
c.35517C>G (p.His11839Gln)
c.17133C>G (p.His5711Gln)
c.38628C>G (p.His12876Gln)
c.38625C>G (p.His12875Gln)
c.38058C>G (p.His12686Gln)
c.35400C>G (p.His11800Gln)
c.35319C>G (p.His11773Gln)
c.17082C>G (p.His5694Gln)
c.6936C>G (p.His2312Gln)
2g.178630335G>TCA349645656TTNc.36483C>A (p.His12161Gln)
c.17568C>A (p.His5856Gln)
c.17367C>A (p.His5789Gln)
c.16992C>A (p.His5664Gln)
c.44187C>A (p.His14729Gln)
c.39264C>A (p.His13088Gln)
c.43284C>A (p.His14428Gln)
c.17178C>A (p.His5726Gln)
c.17037C>A (p.His5679Gln)
c.43080C>A (p.His14360Gln)
c.38478C>A (p.His12826Gln)
c.38475C>A (p.His12825Gln)
c.35517C>A (p.His11839Gln)
c.17133C>A (p.His5711Gln)
c.38628C>A (p.His12876Gln)
c.38625C>A (p.His12875Gln)
c.38058C>A (p.His12686Gln)
c.35400C>A (p.His11800Gln)
c.35319C>A (p.His11773Gln)
c.17082C>A (p.His5694Gln)
c.6936C>A (p.His2312Gln)
2g.178630336T>ACA349645658TTNc.36482A>T (p.His12161Leu)
c.17567A>T (p.His5856Leu)
c.17366A>T (p.His5789Leu)
c.16991A>T (p.His5664Leu)
c.44186A>T (p.His14729Leu)
c.39263A>T (p.His13088Leu)
c.43283A>T (p.His14428Leu)
c.17177A>T (p.His5726Leu)
c.17036A>T (p.His5679Leu)
c.43079A>T (p.His14360Leu)
c.38477A>T (p.His12826Leu)
c.38474A>T (p.His12825Leu)
c.35516A>T (p.His11839Leu)
c.17132A>T (p.His5711Leu)
c.38627A>T (p.His12876Leu)
c.38624A>T (p.His12875Leu)
c.38057A>T (p.His12686Leu)
c.35399A>T (p.His11800Leu)
c.35318A>T (p.His11773Leu)
c.17081A>T (p.His5694Leu)
c.6935A>T (p.His2312Leu)
2g.178630336T>CCA1995724TTNc.36482A>G (p.His12161Arg)
c.17567A>G (p.His5856Arg)
c.17366A>G (p.His5789Arg)
c.16991A>G (p.His5664Arg)
c.44186A>G (p.His14729Arg)
c.39263A>G (p.His13088Arg)
c.43283A>G (p.His14428Arg)
c.17177A>G (p.His5726Arg)
c.17036A>G (p.His5679Arg)
c.43079A>G (p.His14360Arg)
c.38477A>G (p.His12826Arg)
c.38474A>G (p.His12825Arg)
c.35516A>G (p.His11839Arg)
c.17132A>G (p.His5711Arg)
c.38627A>G (p.His12876Arg)
c.38624A>G (p.His12875Arg)
c.38057A>G (p.His12686Arg)
c.35399A>G (p.His11800Arg)
c.35318A>G (p.His11773Arg)
c.17081A>G (p.His5694Arg)
c.6935A>G (p.His2312Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178630336T>GCA349645660TTNc.36482A>C (p.His12161Pro)
c.17567A>C (p.His5856Pro)
c.17366A>C (p.His5789Pro)
c.16991A>C (p.His5664Pro)
c.44186A>C (p.His14729Pro)
c.39263A>C (p.His13088Pro)
c.43283A>C (p.His14428Pro)
c.17177A>C (p.His5726Pro)
c.17036A>C (p.His5679Pro)
c.43079A>C (p.His14360Pro)
c.38477A>C (p.His12826Pro)
c.38474A>C (p.His12825Pro)
c.35516A>C (p.His11839Pro)
c.17132A>C (p.His5711Pro)
c.38627A>C (p.His12876Pro)
c.38624A>C (p.His12875Pro)
c.38057A>C (p.His12686Pro)
c.35399A>C (p.His11800Pro)
c.35318A>C (p.His11773Pro)
c.17081A>C (p.His5694Pro)
c.6935A>C (p.His2312Pro)
2g.178630336T=CA1310555933TTNc.36482A= (p.His12161=)
c.17567A= (p.His5856=)
c.17366A= (p.His5789=)
c.16991A= (p.His5664=)
c.44186A= (p.His14729=)
c.39263A= (p.His13088=)
c.43283A= (p.His14428=)
c.17177A= (p.His5726=)
c.17036A= (p.His5679=)
c.43079A= (p.His14360=)
c.38477A= (p.His12826=)
c.38474A= (p.His12825=)
c.35516A= (p.His11839=)
c.17132A= (p.His5711=)
c.38627A= (p.His12876=)
c.38624A= (p.His12875=)
c.38057A= (p.His12686=)
c.35399A= (p.His11800=)
c.35318A= (p.His11773=)
c.17081A= (p.His5694=)
c.6935A= (p.His2312=)
2g.178630337G>ACA349645662TTNc.36481C>T (p.His12161Tyr)
c.17566C>T (p.His5856Tyr)
c.17365C>T (p.His5789Tyr)
c.16990C>T (p.His5664Tyr)
c.44185C>T (p.His14729Tyr)
c.39262C>T (p.His13088Tyr)
c.43282C>T (p.His14428Tyr)
c.17176C>T (p.His5726Tyr)
c.17035C>T (p.His5679Tyr)
c.43078C>T (p.His14360Tyr)
c.38476C>T (p.His12826Tyr)
c.38473C>T (p.His12825Tyr)
c.35515C>T (p.His11839Tyr)
c.17131C>T (p.His5711Tyr)
c.38626C>T (p.His12876Tyr)
c.38623C>T (p.His12875Tyr)
c.38056C>T (p.His12686Tyr)
c.35398C>T (p.His11800Tyr)
c.35317C>T (p.His11773Tyr)
c.17080C>T (p.His5694Tyr)
c.6934C>T (p.His2312Tyr)
 gnomAD v4
2g.178630337G>CCA349645664TTNc.36481C>G (p.His12161Asp)
c.17566C>G (p.His5856Asp)
c.17365C>G (p.His5789Asp)
c.16990C>G (p.His5664Asp)
c.44185C>G (p.His14729Asp)
c.39262C>G (p.His13088Asp)
c.43282C>G (p.His14428Asp)
c.17176C>G (p.His5726Asp)
c.17035C>G (p.His5679Asp)
c.43078C>G (p.His14360Asp)
c.38476C>G (p.His12826Asp)
c.38473C>G (p.His12825Asp)
c.35515C>G (p.His11839Asp)
c.17131C>G (p.His5711Asp)
c.38626C>G (p.His12876Asp)
c.38623C>G (p.His12875Asp)
c.38056C>G (p.His12686Asp)
c.35398C>G (p.His11800Asp)
c.35317C>G (p.His11773Asp)
c.17080C>G (p.His5694Asp)
c.6934C>G (p.His2312Asp)
2g.178630337G>TCA349645666TTNc.36481C>A (p.His12161Asn)
c.17566C>A (p.His5856Asn)
c.17365C>A (p.His5789Asn)
c.16990C>A (p.His5664Asn)
c.44185C>A (p.His14729Asn)
c.39262C>A (p.His13088Asn)
c.43282C>A (p.His14428Asn)
c.17176C>A (p.His5726Asn)
c.17035C>A (p.His5679Asn)
c.43078C>A (p.His14360Asn)
c.38476C>A (p.His12826Asn)
c.38473C>A (p.His12825Asn)
c.35515C>A (p.His11839Asn)
c.17131C>A (p.His5711Asn)
c.38626C>A (p.His12876Asn)
c.38623C>A (p.His12875Asn)
c.38056C>A (p.His12686Asn)
c.35398C>A (p.His11800Asn)
c.35317C>A (p.His11773Asn)
c.17080C>A (p.His5694Asn)
c.6934C>A (p.His2312Asn)
2g.178630338T>ACA430113585TTNc.36480A>T (p.Ile12160=)
c.17565A>T (p.Ile5855=)
c.17364A>T (p.Ile5788=)
c.16989A>T (p.Ile5663=)
c.44184A>T (p.Ile14728=)
c.39261A>T (p.Ile13087=)
c.43281A>T (p.Ile14427=)
c.17175A>T (p.Ile5725=)
c.17034A>T (p.Ile5678=)
c.43077A>T (p.Ile14359=)
c.38475A>T (p.Ile12825=)
c.38472A>T (p.Ile12824=)
c.35514A>T (p.Ile11838=)
c.17130A>T (p.Ile5710=)
c.38625A>T (p.Ile12875=)
c.38622A>T (p.Ile12874=)
c.38055A>T (p.Ile12685=)
c.35397A>T (p.Ile11799=)
c.35316A>T (p.Ile11772=)
c.17079A>T (p.Ile5693=)
c.6933A>T (p.Ile2311=)
2g.178630338T>CCA1995725TTNc.36480A>G (p.Ile12160Met)
c.17565A>G (p.Ile5855Met)
c.17364A>G (p.Ile5788Met)
c.16989A>G (p.Ile5663Met)
c.44184A>G (p.Ile14728Met)
c.39261A>G (p.Ile13087Met)
c.43281A>G (p.Ile14427Met)
c.17175A>G (p.Ile5725Met)
c.17034A>G (p.Ile5678Met)
c.43077A>G (p.Ile14359Met)
c.38475A>G (p.Ile12825Met)
c.38472A>G (p.Ile12824Met)
c.35514A>G (p.Ile11838Met)
c.17130A>G (p.Ile5710Met)
c.38625A>G (p.Ile12875Met)
c.38622A>G (p.Ile12874Met)
c.38055A>G (p.Ile12685Met)
c.35397A>G (p.Ile11799Met)
c.35316A>G (p.Ile11772Met)
c.17079A>G (p.Ile5693Met)
c.6933A>G (p.Ile2311Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178630338T>GCA430113587TTNc.36480A>C (p.Ile12160=)
c.17565A>C (p.Ile5855=)
c.17364A>C (p.Ile5788=)
c.16989A>C (p.Ile5663=)
c.44184A>C (p.Ile14728=)
c.39261A>C (p.Ile13087=)
c.43281A>C (p.Ile14427=)
c.17175A>C (p.Ile5725=)
c.17034A>C (p.Ile5678=)
c.43077A>C (p.Ile14359=)
c.38475A>C (p.Ile12825=)
c.38472A>C (p.Ile12824=)
c.35514A>C (p.Ile11838=)
c.17130A>C (p.Ile5710=)
c.38625A>C (p.Ile12875=)
c.38622A>C (p.Ile12874=)
c.38055A>C (p.Ile12685=)
c.35397A>C (p.Ile11799=)
c.35316A>C (p.Ile11772=)
c.17079A>C (p.Ile5693=)
c.6933A>C (p.Ile2311=)
2g.178630338T=CA1310555934TTNc.36480A= (p.Ile12160=)
c.17565A= (p.Ile5855=)
c.17364A= (p.Ile5788=)
c.16989A= (p.Ile5663=)
c.44184A= (p.Ile14728=)
c.39261A= (p.Ile13087=)
c.43281A= (p.Ile14427=)
c.17175A= (p.Ile5725=)
c.17034A= (p.Ile5678=)
c.43077A= (p.Ile14359=)
c.38475A= (p.Ile12825=)
c.38472A= (p.Ile12824=)
c.35514A= (p.Ile11838=)
c.17130A= (p.Ile5710=)
c.38625A= (p.Ile12875=)
c.38622A= (p.Ile12874=)
c.38055A= (p.Ile12685=)
c.35397A= (p.Ile11799=)
c.35316A= (p.Ile11772=)
c.17079A= (p.Ile5693=)
c.6933A= (p.Ile2311=)
2g.178630339A>CCA349645673TTNc.36479T>G (p.Ile12160Arg)
c.17564T>G (p.Ile5855Arg)
c.17363T>G (p.Ile5788Arg)
c.16988T>G (p.Ile5663Arg)
c.44183T>G (p.Ile14728Arg)
c.39260T>G (p.Ile13087Arg)
c.43280T>G (p.Ile14427Arg)
c.17174T>G (p.Ile5725Arg)
c.17033T>G (p.Ile5678Arg)
c.43076T>G (p.Ile14359Arg)
c.38474T>G (p.Ile12825Arg)
c.38471T>G (p.Ile12824Arg)
c.35513T>G (p.Ile11838Arg)
c.17129T>G (p.Ile5710Arg)
c.38624T>G (p.Ile12875Arg)
c.38621T>G (p.Ile12874Arg)
c.38054T>G (p.Ile12685Arg)
c.35396T>G (p.Ile11799Arg)
c.35315T>G (p.Ile11772Arg)
c.17078T>G (p.Ile5693Arg)
c.6932T>G (p.Ile2311Arg)
2g.178630339A>GCA349645670TTNc.36479T>C (p.Ile12160Thr)
c.17564T>C (p.Ile5855Thr)
c.17363T>C (p.Ile5788Thr)
c.16988T>C (p.Ile5663Thr)
c.44183T>C (p.Ile14728Thr)
c.39260T>C (p.Ile13087Thr)
c.43280T>C (p.Ile14427Thr)
c.17174T>C (p.Ile5725Thr)
c.17033T>C (p.Ile5678Thr)
c.43076T>C (p.Ile14359Thr)
c.38474T>C (p.Ile12825Thr)
c.38471T>C (p.Ile12824Thr)
c.35513T>C (p.Ile11838Thr)
c.17129T>C (p.Ile5710Thr)
c.38624T>C (p.Ile12875Thr)
c.38621T>C (p.Ile12874Thr)
c.38054T>C (p.Ile12685Thr)
c.35396T>C (p.Ile11799Thr)
c.35315T>C (p.Ile11772Thr)
c.17078T>C (p.Ile5693Thr)
c.6932T>C (p.Ile2311Thr)
 gnomAD v4
2g.178630339A>TCA349645672TTNc.36479T>A (p.Ile12160Lys)
c.17564T>A (p.Ile5855Lys)
c.17363T>A (p.Ile5788Lys)
c.16988T>A (p.Ile5663Lys)
c.44183T>A (p.Ile14728Lys)
c.39260T>A (p.Ile13087Lys)
c.43280T>A (p.Ile14427Lys)
c.17174T>A (p.Ile5725Lys)
c.17033T>A (p.Ile5678Lys)
c.43076T>A (p.Ile14359Lys)
c.38474T>A (p.Ile12825Lys)
c.38471T>A (p.Ile12824Lys)
c.35513T>A (p.Ile11838Lys)
c.17129T>A (p.Ile5710Lys)
c.38624T>A (p.Ile12875Lys)
c.38621T>A (p.Ile12874Lys)
c.38054T>A (p.Ile12685Lys)
c.35396T>A (p.Ile11799Lys)
c.35315T>A (p.Ile11772Lys)
c.17078T>A (p.Ile5693Lys)
c.6932T>A (p.Ile2311Lys)
2g.178630340T>ACA349645676TTNc.36478A>T (p.Ile12160Leu)
c.17563A>T (p.Ile5855Leu)
c.17362A>T (p.Ile5788Leu)
c.16987A>T (p.Ile5663Leu)
c.44182A>T (p.Ile14728Leu)
c.39259A>T (p.Ile13087Leu)
c.43279A>T (p.Ile14427Leu)
c.17173A>T (p.Ile5725Leu)
c.17032A>T (p.Ile5678Leu)
c.43075A>T (p.Ile14359Leu)
c.38473A>T (p.Ile12825Leu)
c.38470A>T (p.Ile12824Leu)
c.35512A>T (p.Ile11838Leu)
c.17128A>T (p.Ile5710Leu)
c.38623A>T (p.Ile12875Leu)
c.38620A>T (p.Ile12874Leu)
c.38053A>T (p.Ile12685Leu)
c.35395A>T (p.Ile11799Leu)
c.35314A>T (p.Ile11772Leu)
c.17077A>T (p.Ile5693Leu)
c.6931A>T (p.Ile2311Leu)
 gnomAD v4
2g.178630340T>CCA349645678TTNc.36478A>G (p.Ile12160Val)
c.17563A>G (p.Ile5855Val)
c.17362A>G (p.Ile5788Val)
c.16987A>G (p.Ile5663Val)
c.44182A>G (p.Ile14728Val)
c.39259A>G (p.Ile13087Val)
c.43279A>G (p.Ile14427Val)
c.17173A>G (p.Ile5725Val)
c.17032A>G (p.Ile5678Val)
c.43075A>G (p.Ile14359Val)
c.38473A>G (p.Ile12825Val)
c.38470A>G (p.Ile12824Val)
c.35512A>G (p.Ile11838Val)
c.17128A>G (p.Ile5710Val)
c.38623A>G (p.Ile12875Val)
c.38620A>G (p.Ile12874Val)
c.38053A>G (p.Ile12685Val)
c.35395A>G (p.Ile11799Val)
c.35314A>G (p.Ile11772Val)
c.17077A>G (p.Ile5693Val)
c.6931A>G (p.Ile2311Val)
2g.178630340T>GCA349645680TTNc.36478A>C (p.Ile12160Leu)
c.17563A>C (p.Ile5855Leu)
c.17362A>C (p.Ile5788Leu)
c.16987A>C (p.Ile5663Leu)
c.44182A>C (p.Ile14728Leu)
c.39259A>C (p.Ile13087Leu)
c.43279A>C (p.Ile14427Leu)
c.17173A>C (p.Ile5725Leu)
c.17032A>C (p.Ile5678Leu)
c.43075A>C (p.Ile14359Leu)
c.38473A>C (p.Ile12825Leu)
c.38470A>C (p.Ile12824Leu)
c.35512A>C (p.Ile11838Leu)
c.17128A>C (p.Ile5710Leu)
c.38623A>C (p.Ile12875Leu)
c.38620A>C (p.Ile12874Leu)
c.38053A>C (p.Ile12685Leu)
c.35395A>C (p.Ile11799Leu)
c.35314A>C (p.Ile11772Leu)
c.17077A>C (p.Ile5693Leu)
c.6931A>C (p.Ile2311Leu)

Number of alleles fetched