Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.74525310T>ACA377397927ADKc.610T>A (p.Ser204Thr)
c.559T>A (p.Ser187Thr)
c.334T>A (p.Ser112Thr)
c.556-63972T>A (n.556-63972T>A)
c.350T>A
c.*355T>A (n.*355T>A)
c.505T>A (p.Ser169Thr)
n.259+2456A>T
c.526T>A (p.Ser176Thr)
c.415T>A (p.Ser139Thr)
c.505-63972T>A (n.505-63972T>A)
10g.74525310T>CCA377397928ADKc.610T>C (p.Ser204Pro)
c.559T>C (p.Ser187Pro)
c.334T>C (p.Ser112Pro)
c.556-63972T>C (n.556-63972T>C)
c.350T>C
c.*355T>C (n.*355T>C)
c.505T>C (p.Ser169Pro)
n.259+2456A>G
c.526T>C (p.Ser176Pro)
c.415T>C (p.Ser139Pro)
c.505-63972T>C (n.505-63972T>C)
10g.74525310T>GCA377397929ADKc.610T>G (p.Ser204Ala)
c.559T>G (p.Ser187Ala)
c.334T>G (p.Ser112Ala)
c.556-63972T>G (n.556-63972T>G)
c.350T>G
c.*355T>G (n.*355T>G)
c.505T>G (p.Ser169Ala)
n.259+2456A>C
c.526T>G (p.Ser176Ala)
c.415T>G (p.Ser139Ala)
c.505-63972T>G (n.505-63972T>G)
10g.74525311C>ACA377397932ADKc.611C>A (p.Ser204Tyr)
c.560C>A (p.Ser187Tyr)
c.335C>A (p.Ser112Tyr)
c.556-63971C>A (n.556-63971C>A)
c.351C>A
c.*356C>A (n.*356C>A)
c.506C>A (p.Ser169Tyr)
n.259+2455G>T
c.527C>A (p.Ser176Tyr)
c.416C>A (p.Ser139Tyr)
c.505-63971C>A (n.505-63971C>A)
gnomAD v4
10g.74525311C>GCA377397931ADKc.611C>G (p.Ser204Cys)
c.560C>G (p.Ser187Cys)
c.335C>G (p.Ser112Cys)
c.556-63971C>G (n.556-63971C>G)
c.351C>G
c.*356C>G (n.*356C>G)
c.506C>G (p.Ser169Cys)
n.259+2455G>C
c.527C>G (p.Ser176Cys)
c.416C>G (p.Ser139Cys)
c.505-63971C>G (n.505-63971C>G)
10g.74525311C>TCA377397930ADKc.611C>T (p.Ser204Phe)
c.560C>T (p.Ser187Phe)
c.335C>T (p.Ser112Phe)
c.556-63971C>T (n.556-63971C>T)
c.351C>T
c.*356C>T (n.*356C>T)
c.506C>T (p.Ser169Phe)
n.259+2455G>A
c.527C>T (p.Ser176Phe)
c.416C>T (p.Ser139Phe)
c.505-63971C>T (n.505-63971C>T)
10g.74525312T>ACA470254805ADKc.612T>A (p.Ser204=)
c.561T>A (p.Ser187=)
c.336T>A (p.Ser112=)
c.556-63970T>A (n.556-63970T>A)
c.352T>A
c.*357T>A (n.*357T>A)
c.507T>A (p.Ser169=)
n.259+2454A>T
c.528T>A (p.Ser176=)
c.417T>A (p.Ser139=)
c.505-63970T>A (n.505-63970T>A)
dbSNP
10g.74525312T>CCA470254807ADKc.612T>C (p.Ser204=)
c.561T>C (p.Ser187=)
c.336T>C (p.Ser112=)
c.556-63970T>C (n.556-63970T>C)
c.352T>C
c.*357T>C (n.*357T>C)
c.507T>C (p.Ser169=)
n.259+2454A>G
c.528T>C (p.Ser176=)
c.417T>C (p.Ser139=)
c.505-63970T>C (n.505-63970T>C)
10g.74525312T>GCA470254806ADKc.612T>G (p.Ser204=)
c.561T>G (p.Ser187=)
c.336T>G (p.Ser112=)
c.556-63970T>G (n.556-63970T>G)
c.352T>G
c.*357T>G (n.*357T>G)
c.507T>G (p.Ser169=)
n.259+2454A>C
c.528T>G (p.Ser176=)
c.417T>G (p.Ser139=)
c.505-63970T>G (n.505-63970T>G)
10g.74525312T=CA1920088374ADKc.612T= (p.Ser204=)
c.561T= (p.Ser187=)
c.336T= (p.Ser112=)
c.556-63970T= (n.556-63970T=)
c.352T=
c.*357T= (n.*357T=)
c.507T= (p.Ser169=)
n.259+2454A=
c.528T= (p.Ser176=)
c.417T= (p.Ser139=)
c.505-63970T= (n.505-63970T=)
10g.74525313G>ACA377397933ADKc.613G>A (p.Glu205Lys)
c.562G>A (p.Glu188Lys)
c.337G>A (p.Glu113Lys)
c.556-63969G>A (n.556-63969G>A)
c.353G>A
c.*358G>A (n.*358G>A)
c.508G>A (p.Glu170Lys)
n.259+2453C>T
c.529G>A (p.Glu177Lys)
c.418G>A (p.Glu140Lys)
c.505-63969G>A (n.505-63969G>A)
COSMIC
10g.74525313G>CCA377397934ADKc.613G>C (p.Glu205Gln)
c.562G>C (p.Glu188Gln)
c.337G>C (p.Glu113Gln)
c.556-63969G>C (n.556-63969G>C)
c.353G>C
c.*358G>C (n.*358G>C)
c.508G>C (p.Glu170Gln)
n.259+2453C>G
c.529G>C (p.Glu177Gln)
c.418G>C (p.Glu140Gln)
c.505-63969G>C (n.505-63969G>C)
10g.74525313G>TCA377397935ADKc.613G>T (p.Glu205Ter)
c.562G>T (p.Glu188Ter)
c.337G>T (p.Glu113Ter)
c.556-63969G>T (n.556-63969G>T)
c.353G>T
c.*358G>T (n.*358G>T)
c.508G>T (p.Glu170Ter)
n.259+2453C>A
c.529G>T (p.Glu177Ter)
c.418G>T (p.Glu140Ter)
c.505-63969G>T (n.505-63969G>T)
10g.74525314A>CCA377397936ADKc.614A>C (p.Glu205Ala)
c.563A>C (p.Glu188Ala)
c.338A>C (p.Glu113Ala)
c.556-63968A>C (n.556-63968A>C)
c.354A>C
c.*359A>C (n.*359A>C)
c.509A>C (p.Glu170Ala)
n.259+2452T>G
c.530A>C (p.Glu177Ala)
c.419A>C (p.Glu140Ala)
c.505-63968A>C (n.505-63968A>C)
10g.74525314A>GCA377397937ADKc.614A>G (p.Glu205Gly)
c.563A>G (p.Glu188Gly)
c.338A>G (p.Glu113Gly)
c.556-63968A>G (n.556-63968A>G)
c.354A>G
c.*359A>G (n.*359A>G)
c.509A>G (p.Glu170Gly)
n.259+2452T>C
c.530A>G (p.Glu177Gly)
c.419A>G (p.Glu140Gly)
c.505-63968A>G (n.505-63968A>G)
10g.74525314A>TCA377397938ADKc.614A>T (p.Glu205Val)
c.563A>T (p.Glu188Val)
c.338A>T (p.Glu113Val)
c.556-63968A>T (n.556-63968A>T)
c.354A>T
c.*359A>T (n.*359A>T)
c.509A>T (p.Glu170Val)
n.259+2452T>A
c.530A>T (p.Glu177Val)
c.419A>T (p.Glu140Val)
c.505-63968A>T (n.505-63968A>T)
10g.74525315A>CCA377397939ADKc.615A>C (p.Glu205Asp)
c.564A>C (p.Glu188Asp)
c.339A>C (p.Glu113Asp)
c.556-63967A>C (n.556-63967A>C)
c.355A>C
c.*360A>C (n.*360A>C)
c.510A>C (p.Glu170Asp)
n.259+2451T>G
c.531A>C (p.Glu177Asp)
c.420A>C (p.Glu140Asp)
c.505-63967A>C (n.505-63967A>C)
10g.74525315A>GCA470254808ADKc.615A>G (p.Glu205=)
c.564A>G (p.Glu188=)
c.339A>G (p.Glu113=)
c.556-63967A>G (n.556-63967A>G)
c.355A>G
c.*360A>G (n.*360A>G)
c.510A>G (p.Glu170=)
n.259+2451T>C
c.531A>G (p.Glu177=)
c.420A>G (p.Glu140=)
c.505-63967A>G (n.505-63967A>G)
10g.74525315A>TCA377397940ADKc.615A>T (p.Glu205Asp)
c.564A>T (p.Glu188Asp)
c.339A>T (p.Glu113Asp)
c.556-63967A>T (n.556-63967A>T)
c.355A>T
c.*360A>T (n.*360A>T)
c.510A>T (p.Glu170Asp)
n.259+2451T>A
c.531A>T (p.Glu177Asp)
c.420A>T (p.Glu140Asp)
c.505-63967A>T (n.505-63967A>T)
10g.74525316A>CCA377397941ADKc.616A>C (p.Asn206His)
c.565A>C (p.Asn189His)
c.340A>C (p.Asn114His)
c.556-63966A>C (n.556-63966A>C)
c.356A>C
c.*361A>C (n.*361A>C)
c.511A>C (p.Asn171His)
n.259+2450T>G
c.532A>C (p.Asn178His)
c.421A>C (p.Asn141His)
c.505-63966A>C (n.505-63966A>C)
10g.74525316A>GCA377397942ADKc.616A>G (p.Asn206Asp)
c.565A>G (p.Asn189Asp)
c.340A>G (p.Asn114Asp)
c.556-63966A>G (n.556-63966A>G)
c.356A>G
c.*361A>G (n.*361A>G)
c.511A>G (p.Asn171Asp)
n.259+2450T>C
c.532A>G (p.Asn178Asp)
c.421A>G (p.Asn141Asp)
c.505-63966A>G (n.505-63966A>G)
10g.74525316A>TCA377397943ADKc.616A>T (p.Asn206Tyr)
c.565A>T (p.Asn189Tyr)
c.340A>T (p.Asn114Tyr)
c.556-63966A>T (n.556-63966A>T)
c.356A>T
c.*361A>T (n.*361A>T)
c.511A>T (p.Asn171Tyr)
n.259+2450T>A
c.532A>T (p.Asn178Tyr)
c.421A>T (p.Asn141Tyr)
c.505-63966A>T (n.505-63966A>T)
10g.74525317A>CCA377397946ADKc.617A>C (p.Asn206Thr)
c.566A>C (p.Asn189Thr)
c.341A>C (p.Asn114Thr)
c.556-63965A>C (n.556-63965A>C)
c.357A>C
c.*362A>C (n.*362A>C)
c.512A>C (p.Asn171Thr)
n.259+2449T>G
c.533A>C (p.Asn178Thr)
c.422A>C (p.Asn141Thr)
c.505-63965A>C (n.505-63965A>C)
10g.74525317A>GCA377397945ADKc.617A>G (p.Asn206Ser)
c.566A>G (p.Asn189Ser)
c.341A>G (p.Asn114Ser)
c.556-63965A>G (n.556-63965A>G)
c.357A>G
c.*362A>G (n.*362A>G)
c.512A>G (p.Asn171Ser)
n.259+2449T>C
c.533A>G (p.Asn178Ser)
c.422A>G (p.Asn141Ser)
c.505-63965A>G (n.505-63965A>G)
10g.74525317A>TCA377397944ADKc.617A>T (p.Asn206Ile)
c.566A>T (p.Asn189Ile)
c.341A>T (p.Asn114Ile)
c.556-63965A>T (n.556-63965A>T)
c.357A>T
c.*362A>T (n.*362A>T)
c.512A>T (p.Asn171Ile)
n.259+2449T>A
c.533A>T (p.Asn178Ile)
c.422A>T (p.Asn141Ile)
c.505-63965A>T (n.505-63965A>T)
10g.74525318C>ACA377397947ADKc.618C>A (p.Asn206Lys)
c.567C>A (p.Asn189Lys)
c.342C>A (p.Asn114Lys)
c.556-63964C>A (n.556-63964C>A)
c.358C>A
c.*363C>A (n.*363C>A)
c.513C>A (p.Asn171Lys)
n.259+2448G>T
c.534C>A (p.Asn178Lys)
c.423C>A (p.Asn141Lys)
c.505-63964C>A (n.505-63964C>A)
10g.74525318C>GCA377397948ADKc.618C>G (p.Asn206Lys)
c.567C>G (p.Asn189Lys)
c.342C>G (p.Asn114Lys)
c.556-63964C>G (n.556-63964C>G)
c.358C>G
c.*363C>G (n.*363C>G)
c.513C>G (p.Asn171Lys)
n.259+2448G>C
c.534C>G (p.Asn178Lys)
c.423C>G (p.Asn141Lys)
c.505-63964C>G (n.505-63964C>G)
10g.74525318C>TCA470254809ADKc.618C>T (p.Asn206=)
c.567C>T (p.Asn189=)
c.342C>T (p.Asn114=)
c.556-63964C>T (n.556-63964C>T)
c.358C>T
c.*363C>T (n.*363C>T)
c.513C>T (p.Asn171=)
n.259+2448G>A
c.534C>T (p.Asn178=)
c.423C>T (p.Asn141=)
c.505-63964C>T (n.505-63964C>T)
gnomAD v4
10g.74525319A>CCA377397949ADKc.619A>C (p.Asn207His)
c.568A>C (p.Asn190His)
c.343A>C (p.Asn115His)
c.556-63963A>C (n.556-63963A>C)
c.359A>C
c.*364A>C (n.*364A>C)
c.514A>C (p.Asn172His)
n.259+2447T>G
c.535A>C (p.Asn179His)
c.424A>C (p.Asn142His)
c.505-63963A>C (n.505-63963A>C)
10g.74525319A>GCA377397950ADKc.619A>G (p.Asn207Asp)
c.568A>G (p.Asn190Asp)
c.343A>G (p.Asn115Asp)
c.556-63963A>G (n.556-63963A>G)
c.359A>G
c.*364A>G (n.*364A>G)
c.514A>G (p.Asn172Asp)
n.259+2447T>C
c.535A>G (p.Asn179Asp)
c.424A>G (p.Asn142Asp)
c.505-63963A>G (n.505-63963A>G)
10g.74525319A>TCA377397951ADKc.619A>T (p.Asn207Tyr)
c.568A>T (p.Asn190Tyr)
c.343A>T (p.Asn115Tyr)
c.556-63963A>T (n.556-63963A>T)
c.359A>T
c.*364A>T (n.*364A>T)
c.514A>T (p.Asn172Tyr)
n.259+2447T>A
c.535A>T (p.Asn179Tyr)
c.424A>T (p.Asn142Tyr)
c.505-63963A>T (n.505-63963A>T)
10g.74525320A>CCA377397952ADKc.620A>C (p.Asn207Thr)
c.569A>C (p.Asn190Thr)
c.344A>C (p.Asn115Thr)
c.556-63962A>C (n.556-63962A>C)
c.360A>C
c.*365A>C (n.*365A>C)
c.515A>C (p.Asn172Thr)
n.259+2446T>G
c.536A>C (p.Asn179Thr)
c.425A>C (p.Asn142Thr)
c.505-63962A>C (n.505-63962A>C)
ClinVar dbSNP
10g.74525320A>GCA377397953ADKc.620A>G (p.Asn207Ser)
c.569A>G (p.Asn190Ser)
c.344A>G (p.Asn115Ser)
c.556-63962A>G (n.556-63962A>G)
c.360A>G
c.*365A>G (n.*365A>G)
c.515A>G (p.Asn172Ser)
n.259+2446T>C
c.536A>G (p.Asn179Ser)
c.425A>G (p.Asn142Ser)
c.505-63962A>G (n.505-63962A>G)
10g.74525320A>TCA377397954ADKc.620A>T (p.Asn207Ile)
c.569A>T (p.Asn190Ile)
c.344A>T (p.Asn115Ile)
c.556-63962A>T (n.556-63962A>T)
c.360A>T
c.*365A>T (n.*365A>T)
c.515A>T (p.Asn172Ile)
n.259+2446T>A
c.536A>T (p.Asn179Ile)
c.425A>T (p.Asn142Ile)
c.505-63962A>T (n.505-63962A>T)
10g.74525321C>ACA377397955ADKc.621C>A (p.Asn207Lys)
c.570C>A (p.Asn190Lys)
c.345C>A (p.Asn115Lys)
c.556-63961C>A (n.556-63961C>A)
c.361C>A
c.*366C>A (n.*366C>A)
c.516C>A (p.Asn172Lys)
n.259+2445G>T
c.537C>A (p.Asn179Lys)
c.426C>A (p.Asn142Lys)
c.505-63961C>A (n.505-63961C>A)
10g.74525321C>GCA377397956ADKc.621C>G (p.Asn207Lys)
c.570C>G (p.Asn190Lys)
c.345C>G (p.Asn115Lys)
c.556-63961C>G (n.556-63961C>G)
c.361C>G
c.*366C>G (n.*366C>G)
c.516C>G (p.Asn172Lys)
n.259+2445G>C
c.537C>G (p.Asn179Lys)
c.426C>G (p.Asn142Lys)
c.505-63961C>G (n.505-63961C>G)
10g.74525321C>TCA470254810ADKc.621C>T (p.Asn207=)
c.570C>T (p.Asn190=)
c.345C>T (p.Asn115=)
c.556-63961C>T (n.556-63961C>T)
c.361C>T
c.*366C>T (n.*366C>T)
c.516C>T (p.Asn172=)
n.259+2445G>A
c.537C>T (p.Asn179=)
c.426C>T (p.Asn142=)
c.505-63961C>T (n.505-63961C>T)
gnomAD v4
10g.74525322A>CCA470254811ADKc.622A>C (p.Arg208=)
c.571A>C (p.Arg191=)
c.346A>C (p.Arg116=)
c.556-63960A>C (n.556-63960A>C)
c.362A>C
c.*367A>C (n.*367A>C)
c.517A>C (p.Arg173=)
n.259+2444T>G
c.538A>C (p.Arg180=)
c.427A>C (p.Arg143=)
c.505-63960A>C (n.505-63960A>C)
10g.74525322A>GCA377397957ADKc.622A>G (p.Arg208Gly)
c.571A>G (p.Arg191Gly)
c.346A>G (p.Arg116Gly)
c.556-63960A>G (n.556-63960A>G)
c.362A>G
c.*367A>G (n.*367A>G)
c.517A>G (p.Arg173Gly)
n.259+2444T>C
c.538A>G (p.Arg180Gly)
c.427A>G (p.Arg143Gly)
c.505-63960A>G (n.505-63960A>G)
10g.74525322A>TCA377397958ADKc.622A>T (p.Arg208Trp)
c.571A>T (p.Arg191Trp)
c.346A>T (p.Arg116Trp)
c.556-63960A>T (n.556-63960A>T)
c.362A>T
c.*367A>T (n.*367A>T)
c.517A>T (p.Arg173Trp)
n.259+2444T>A
c.538A>T (p.Arg180Trp)
c.427A>T (p.Arg143Trp)
c.505-63960A>T (n.505-63960A>T)
10g.74525323G>ACA377397961ADKc.623G>A (p.Arg208Lys)
c.572G>A (p.Arg191Lys)
c.347G>A (p.Arg116Lys)
c.556-63959G>A (n.556-63959G>A)
c.363G>A
c.*368G>A (n.*368G>A)
c.518G>A (p.Arg173Lys)
n.259+2443C>T
c.539G>A (p.Arg180Lys)
c.428G>A (p.Arg143Lys)
c.505-63959G>A (n.505-63959G>A)
10g.74525323G>CCA377397960ADKc.623G>C (p.Arg208Thr)
c.572G>C (p.Arg191Thr)
c.347G>C (p.Arg116Thr)
c.556-63959G>C (n.556-63959G>C)
c.363G>C
c.*368G>C (n.*368G>C)
c.518G>C (p.Arg173Thr)
n.259+2443C>G
c.539G>C (p.Arg180Thr)
c.428G>C (p.Arg143Thr)
c.505-63959G>C (n.505-63959G>C)
10g.74525323G>TCA377397959ADKc.623G>T (p.Arg208Met)
c.572G>T (p.Arg191Met)
c.347G>T (p.Arg116Met)
c.556-63959G>T (n.556-63959G>T)
c.363G>T
c.*368G>T (n.*368G>T)
c.518G>T (p.Arg173Met)
n.259+2443C>A
c.539G>T (p.Arg180Met)
c.428G>T (p.Arg143Met)
c.505-63959G>T (n.505-63959G>T)
10g.74525324G>ACA470254812ADKc.624G>A (p.Arg208=)
c.573G>A (p.Arg191=)
c.348G>A (p.Arg116=)
c.556-63958G>A (n.556-63958G>A)
c.364G>A
c.*369G>A (n.*369G>A)
c.519G>A (p.Arg173=)
n.259+2442C>T
c.540G>A (p.Arg180=)
c.429G>A (p.Arg143=)
c.505-63958G>A (n.505-63958G>A)
10g.74525324G>CCA377397962ADKc.624G>C (p.Arg208Ser)
c.573G>C (p.Arg191Ser)
c.348G>C (p.Arg116Ser)
c.556-63958G>C (n.556-63958G>C)
c.364G>C
c.*369G>C (n.*369G>C)
c.519G>C (p.Arg173Ser)
n.259+2442C>G
c.540G>C (p.Arg180Ser)
c.429G>C (p.Arg143Ser)
c.505-63958G>C (n.505-63958G>C)
10g.74525324G>TCA377397963ADKc.624G>T (p.Arg208Ser)
c.573G>T (p.Arg191Ser)
c.348G>T (p.Arg116Ser)
c.556-63958G>T (n.556-63958G>T)
c.364G>T
c.*369G>T (n.*369G>T)
c.519G>T (p.Arg173Ser)
n.259+2442C>A
c.540G>T (p.Arg180Ser)
c.429G>T (p.Arg143Ser)
c.505-63958G>T (n.505-63958G>T)
10g.74525325A=CA1920088378ADKc.625A= (p.Ile209=)
c.574A= (p.Ile192=)
c.349A= (p.Ile117=)
c.556-63957A= (n.556-63957A=)
c.365A=
c.*370A= (n.*370A=)
c.520A= (p.Ile174=)
n.259+2441T=
c.541A= (p.Ile181=)
c.430A= (p.Ile144=)
c.505-63957A= (n.505-63957A=)
10g.74525325A>CCA377397964ADKc.625A>C (p.Ile209Leu)
c.574A>C (p.Ile192Leu)
c.349A>C (p.Ile117Leu)
c.556-63957A>C (n.556-63957A>C)
c.365A>C
c.*370A>C (n.*370A>C)
c.520A>C (p.Ile174Leu)
n.259+2441T>G
c.541A>C (p.Ile181Leu)
c.430A>C (p.Ile144Leu)
c.505-63957A>C (n.505-63957A>C)
10g.74525325A>GCA377397965ADKc.625A>G (p.Ile209Val)
c.574A>G (p.Ile192Val)
c.349A>G (p.Ile117Val)
c.556-63957A>G (n.556-63957A>G)
c.365A>G
c.*370A>G (n.*370A>G)
c.520A>G (p.Ile174Val)
n.259+2441T>C
c.541A>G (p.Ile181Val)
c.430A>G (p.Ile144Val)
c.505-63957A>G (n.505-63957A>G)
10g.74525325A>TCA5564005ADKc.625A>T (p.Ile209Phe)
c.574A>T (p.Ile192Phe)
c.349A>T (p.Ile117Phe)
c.556-63957A>T (n.556-63957A>T)
c.365A>T
c.*370A>T (n.*370A>T)
c.520A>T (p.Ile174Phe)
n.259+2441T>A
c.541A>T (p.Ile181Phe)
c.430A>T (p.Ile144Phe)
c.505-63957A>T (n.505-63957A>T)
dbSNP ExAC gnomAD v2
10g.74525326T>ACA377397966ADKc.626T>A (p.Ile209Asn)
c.575T>A (p.Ile192Asn)
c.350T>A (p.Ile117Asn)
c.556-63956T>A (n.556-63956T>A)
c.366T>A
c.*371T>A (n.*371T>A)
c.521T>A (p.Ile174Asn)
n.259+2440A>T
c.542T>A (p.Ile181Asn)
c.431T>A (p.Ile144Asn)
c.505-63956T>A (n.505-63956T>A)
10g.74525326T>CCA377397967ADKc.626T>C (p.Ile209Thr)
c.575T>C (p.Ile192Thr)
c.350T>C (p.Ile117Thr)
c.556-63956T>C (n.556-63956T>C)
c.366T>C
c.*371T>C (n.*371T>C)
c.521T>C (p.Ile174Thr)
n.259+2440A>G
c.542T>C (p.Ile181Thr)
c.431T>C (p.Ile144Thr)
c.505-63956T>C (n.505-63956T>C)
10g.74525326T>GCA377397968ADKc.626T>G (p.Ile209Ser)
c.575T>G (p.Ile192Ser)
c.350T>G (p.Ile117Ser)
c.556-63956T>G (n.556-63956T>G)
c.366T>G
c.*371T>G (n.*371T>G)
c.521T>G (p.Ile174Ser)
n.259+2440A>C
c.542T>G (p.Ile181Ser)
c.431T>G (p.Ile144Ser)
c.505-63956T>G (n.505-63956T>G)
10g.74525327T>ACA470254813ADKc.627T>A (p.Ile209=)
c.576T>A (p.Ile192=)
c.351T>A (p.Ile117=)
c.556-63955T>A (n.556-63955T>A)
c.367T>A
c.*372T>A (n.*372T>A)
c.522T>A (p.Ile174=)
n.259+2439A>T
c.543T>A (p.Ile181=)
c.432T>A (p.Ile144=)
c.505-63955T>A (n.505-63955T>A)
10g.74525327T>CCA470254814ADKc.627T>C (p.Ile209=)
c.576T>C (p.Ile192=)
c.351T>C (p.Ile117=)
c.556-63955T>C (n.556-63955T>C)
c.367T>C
c.*372T>C (n.*372T>C)
c.522T>C (p.Ile174=)
n.259+2439A>G
c.543T>C (p.Ile181=)
c.432T>C (p.Ile144=)
c.505-63955T>C (n.505-63955T>C)
dbSNP gnomAD v3 gnomAD v4
10g.74525327T>GCA377397969ADKc.627T>G (p.Ile209Met)
c.576T>G (p.Ile192Met)
c.351T>G (p.Ile117Met)
c.556-63955T>G (n.556-63955T>G)
c.367T>G
c.*372T>G (n.*372T>G)
c.522T>G (p.Ile174Met)
n.259+2439A>C
c.543T>G (p.Ile181Met)
c.432T>G (p.Ile144Met)
c.505-63955T>G (n.505-63955T>G)
10g.74525327T=CA1920088381ADKc.627T= (p.Ile209=)
c.576T= (p.Ile192=)
c.351T= (p.Ile117=)
c.556-63955T= (n.556-63955T=)
c.367T=
c.*372T= (n.*372T=)
c.522T= (p.Ile174=)
n.259+2439A=
c.543T= (p.Ile181=)
c.432T= (p.Ile144=)
c.505-63955T= (n.505-63955T=)
10g.74525328T>ACA377397970ADKc.628T>A (p.Phe210Ile)
c.577T>A (p.Phe193Ile)
c.352T>A (p.Phe118Ile)
c.556-63954T>A (n.556-63954T>A)
c.368T>A
c.*373T>A (n.*373T>A)
c.523T>A (p.Phe175Ile)
n.259+2438A>T
c.544T>A (p.Phe182Ile)
c.433T>A (p.Phe145Ile)
c.505-63954T>A (n.505-63954T>A)
10g.74525328T>CCA377397971ADKc.628T>C (p.Phe210Leu)
c.577T>C (p.Phe193Leu)
c.352T>C (p.Phe118Leu)
c.556-63954T>C (n.556-63954T>C)
c.368T>C
c.*373T>C (n.*373T>C)
c.523T>C (p.Phe175Leu)
n.259+2438A>G
c.544T>C (p.Phe182Leu)
c.433T>C (p.Phe145Leu)
c.505-63954T>C (n.505-63954T>C)
10g.74525328T>GCA377397972ADKc.628T>G (p.Phe210Val)
c.577T>G (p.Phe193Val)
c.352T>G (p.Phe118Val)
c.556-63954T>G (n.556-63954T>G)
c.368T>G
c.*373T>G (n.*373T>G)
c.523T>G (p.Phe175Val)
n.259+2438A>C
c.544T>G (p.Phe182Val)
c.433T>G (p.Phe145Val)
c.505-63954T>G (n.505-63954T>G)
10g.74525329T>ACA377397973ADKc.629T>A (p.Phe210Tyr)
c.578T>A (p.Phe193Tyr)
c.353T>A (p.Phe118Tyr)
c.556-63953T>A (n.556-63953T>A)
c.369T>A
c.*374T>A (n.*374T>A)
c.524T>A (p.Phe175Tyr)
n.259+2437A>T
c.545T>A (p.Phe182Tyr)
c.434T>A (p.Phe145Tyr)
c.505-63953T>A (n.505-63953T>A)
10g.74525329T>CCA377397974ADKc.629T>C (p.Phe210Ser)
c.578T>C (p.Phe193Ser)
c.353T>C (p.Phe118Ser)
c.556-63953T>C (n.556-63953T>C)
c.369T>C
c.*374T>C (n.*374T>C)
c.524T>C (p.Phe175Ser)
n.259+2437A>G
c.545T>C (p.Phe182Ser)
c.434T>C (p.Phe145Ser)
c.505-63953T>C (n.505-63953T>C)
10g.74525329T>GCA377397975ADKc.629T>G (p.Phe210Cys)
c.578T>G (p.Phe193Cys)
c.353T>G (p.Phe118Cys)
c.556-63953T>G (n.556-63953T>G)
c.369T>G
c.*374T>G (n.*374T>G)
c.524T>G (p.Phe175Cys)
n.259+2437A>C
c.545T>G (p.Phe182Cys)
c.434T>G (p.Phe145Cys)
c.505-63953T>G (n.505-63953T>G)
10g.74525330C>ACA377397976ADKc.630C>A (p.Phe210Leu)
c.579C>A (p.Phe193Leu)
c.354C>A (p.Phe118Leu)
c.556-63952C>A (n.556-63952C>A)
c.370C>A
c.*375C>A (n.*375C>A)
c.525C>A (p.Phe175Leu)
n.259+2436G>T
c.546C>A (p.Phe182Leu)
c.435C>A (p.Phe145Leu)
c.505-63952C>A (n.505-63952C>A)
10g.74525330C>GCA377397977ADKc.630C>G (p.Phe210Leu)
c.579C>G (p.Phe193Leu)
c.354C>G (p.Phe118Leu)
c.556-63952C>G (n.556-63952C>G)
c.370C>G
c.*375C>G (n.*375C>G)
c.525C>G (p.Phe175Leu)
n.259+2436G>C
c.546C>G (p.Phe182Leu)
c.435C>G (p.Phe145Leu)
c.505-63952C>G (n.505-63952C>G)
10g.74525330C>TCA470254815ADKc.630C>T (p.Phe210=)
c.579C>T (p.Phe193=)
c.354C>T (p.Phe118=)
c.556-63952C>T (n.556-63952C>T)
c.370C>T
c.*375C>T (n.*375C>T)
c.525C>T (p.Phe175=)
n.259+2436G>A
c.546C>T (p.Phe182=)
c.435C>T (p.Phe145=)
c.505-63952C>T (n.505-63952C>T)
10g.74525331A=CA1920088384ADKc.631A= (p.Thr211=)
c.580A= (p.Thr194=)
c.355A= (p.Thr119=)
c.556-63951A= (n.556-63951A=)
c.371A=
c.*376A= (n.*376A=)
c.526A= (p.Thr176=)
n.259+2435T=
c.547A= (p.Thr183=)
c.436A= (p.Thr146=)
c.505-63951A= (n.505-63951A=)
10g.74525331A>CCA377397978ADKc.631A>C (p.Thr211Pro)
c.580A>C (p.Thr194Pro)
c.355A>C (p.Thr119Pro)
c.556-63951A>C (n.556-63951A>C)
c.371A>C
c.*376A>C (n.*376A>C)
c.526A>C (p.Thr176Pro)
n.259+2435T>G
c.547A>C (p.Thr183Pro)
c.436A>C (p.Thr146Pro)
c.505-63951A>C (n.505-63951A>C)
10g.74525331A>GCA377397979ADKc.631A>G (p.Thr211Ala)
c.580A>G (p.Thr194Ala)
c.355A>G (p.Thr119Ala)
c.556-63951A>G (n.556-63951A>G)
c.371A>G
c.*376A>G (n.*376A>G)
c.526A>G (p.Thr176Ala)
n.259+2435T>C
c.547A>G (p.Thr183Ala)
c.436A>G (p.Thr146Ala)
c.505-63951A>G (n.505-63951A>G)
10g.74525331A>TCA209874922ADKc.631A>T (p.Thr211Ser)
c.580A>T (p.Thr194Ser)
c.355A>T (p.Thr119Ser)
c.556-63951A>T (n.556-63951A>T)
c.371A>T
c.*376A>T (n.*376A>T)
c.526A>T (p.Thr176Ser)
n.259+2435T>A
c.547A>T (p.Thr183Ser)
c.436A>T (p.Thr146Ser)
c.505-63951A>T (n.505-63951A>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.74525332C>ACA377397980ADKc.632C>A (p.Thr211Asn)
c.581C>A (p.Thr194Asn)
c.356C>A (p.Thr119Asn)
c.556-63950C>A (n.556-63950C>A)
c.372C>A
c.*377C>A (n.*377C>A)
c.527C>A (p.Thr176Asn)
n.259+2434G>T
c.548C>A (p.Thr183Asn)
c.437C>A (p.Thr146Asn)
c.505-63950C>A (n.505-63950C>A)
10g.74525332C=CA1920088387ADKc.632C= (p.Thr211=)
c.581C= (p.Thr194=)
c.356C= (p.Thr119=)
c.556-63950C= (n.556-63950C=)
c.372C=
c.*377C= (n.*377C=)
c.527C= (p.Thr176=)
n.259+2434G=
c.548C= (p.Thr183=)
c.437C= (p.Thr146=)
c.505-63950C= (n.505-63950C=)
10g.74525332C>GCA377397981ADKc.632C>G (p.Thr211Ser)
c.581C>G (p.Thr194Ser)
c.356C>G (p.Thr119Ser)
c.556-63950C>G (n.556-63950C>G)
c.372C>G
c.*377C>G (n.*377C>G)
c.527C>G (p.Thr176Ser)
n.259+2434G>C
c.548C>G (p.Thr183Ser)
c.437C>G (p.Thr146Ser)
c.505-63950C>G (n.505-63950C>G)
10g.74525332C>TCA5564006ADKc.632C>T (p.Thr211Ile)
c.581C>T (p.Thr194Ile)
c.356C>T (p.Thr119Ile)
c.556-63950C>T (n.556-63950C>T)
c.372C>T
c.*377C>T (n.*377C>T)
c.527C>T (p.Thr176Ile)
n.259+2434G>A
c.548C>T (p.Thr183Ile)
c.437C>T (p.Thr146Ile)
c.505-63950C>T (n.505-63950C>T)
dbSNP ExAC gnomAD v2
10g.74525333T>ACA470254816ADKc.633T>A (p.Thr211=)
c.582T>A (p.Thr194=)
c.357T>A (p.Thr119=)
c.556-63949T>A (n.556-63949T>A)
c.373T>A
c.*378T>A (n.*378T>A)
c.528T>A (p.Thr176=)
n.259+2433A>T
c.549T>A (p.Thr183=)
c.438T>A (p.Thr146=)
c.505-63949T>A (n.505-63949T>A)
10g.74525333T>CCA470254818ADKc.633T>C (p.Thr211=)
c.582T>C (p.Thr194=)
c.357T>C (p.Thr119=)
c.556-63949T>C (n.556-63949T>C)
c.373T>C
c.*378T>C (n.*378T>C)
c.528T>C (p.Thr176=)
n.259+2433A>G
c.549T>C (p.Thr183=)
c.438T>C (p.Thr146=)
c.505-63949T>C (n.505-63949T>C)
10g.74525333T>GCA470254817ADKc.633T>G (p.Thr211=)
c.582T>G (p.Thr194=)
c.357T>G (p.Thr119=)
c.556-63949T>G (n.556-63949T>G)
c.373T>G
c.*378T>G (n.*378T>G)
c.528T>G (p.Thr176=)
n.259+2433A>C
c.549T>G (p.Thr183=)
c.438T>G (p.Thr146=)
c.505-63949T>G (n.505-63949T>G)
10g.74525334T>ACA377397982ADKc.634T>A (p.Leu212Met)
c.583T>A (p.Leu195Met)
c.358T>A (p.Leu120Met)
c.556-63948T>A (n.556-63948T>A)
c.374T>A
c.*379T>A (n.*379T>A)
c.529T>A (p.Leu177Met)
n.259+2432A>T
c.550T>A (p.Leu184Met)
c.439T>A (p.Leu147Met)
c.505-63948T>A (n.505-63948T>A)
10g.74525334T>CCA470254819ADKc.634T>C (p.Leu212=)
c.583T>C (p.Leu195=)
c.358T>C (p.Leu120=)
c.556-63948T>C (n.556-63948T>C)
c.374T>C
c.*379T>C (n.*379T>C)
c.529T>C (p.Leu177=)
n.259+2432A>G
c.550T>C (p.Leu184=)
c.439T>C (p.Leu147=)
c.505-63948T>C (n.505-63948T>C)
10g.74525334T>GCA377397983ADKc.634T>G (p.Leu212Val)
c.583T>G (p.Leu195Val)
c.358T>G (p.Leu120Val)
c.556-63948T>G (n.556-63948T>G)
c.374T>G
c.*379T>G (n.*379T>G)
c.529T>G (p.Leu177Val)
n.259+2432A>C
c.550T>G (p.Leu184Val)
c.439T>G (p.Leu147Val)
c.505-63948T>G (n.505-63948T>G)
10g.74525335T>ACA377397984ADKc.635T>A (p.Leu212Ter)
c.584T>A (p.Leu195Ter)
c.359T>A (p.Leu120Ter)
c.556-63947T>A (n.556-63947T>A)
c.375T>A
c.*380T>A (n.*380T>A)
c.530T>A (p.Leu177Ter)
n.259+2431A>T
c.551T>A (p.Leu184Ter)
c.440T>A (p.Leu147Ter)
c.505-63947T>A (n.505-63947T>A)
10g.74525335T>CCA377397985ADKc.635T>C (p.Leu212Ser)
c.584T>C (p.Leu195Ser)
c.359T>C (p.Leu120Ser)
c.556-63947T>C (n.556-63947T>C)
c.375T>C
c.*380T>C (n.*380T>C)
c.530T>C (p.Leu177Ser)
n.259+2431A>G
c.551T>C (p.Leu184Ser)
c.440T>C (p.Leu147Ser)
c.505-63947T>C (n.505-63947T>C)
10g.74525335T>GCA377397986ADKc.635T>G (p.Leu212Trp)
c.584T>G (p.Leu195Trp)
c.359T>G (p.Leu120Trp)
c.556-63947T>G (n.556-63947T>G)
c.375T>G
c.*380T>G (n.*380T>G)
c.530T>G (p.Leu177Trp)
n.259+2431A>C
c.551T>G (p.Leu184Trp)
c.440T>G (p.Leu147Trp)
c.505-63947T>G (n.505-63947T>G)
10g.74525336G>ACA470254820ADKc.636G>A (p.Leu212=)
c.585G>A (p.Leu195=)
c.360G>A (p.Leu120=)
c.556-63946G>A (n.556-63946G>A)
c.376G>A
c.*381G>A (n.*381G>A)
c.531G>A (p.Leu177=)
n.259+2430C>T
c.552G>A (p.Leu184=)
c.441G>A (p.Leu147=)
c.505-63946G>A (n.505-63946G>A)
10g.74525336G>CCA377397988ADKc.636G>C (p.Leu212Phe)
c.585G>C (p.Leu195Phe)
c.360G>C (p.Leu120Phe)
c.556-63946G>C (n.556-63946G>C)
c.376G>C
c.*381G>C (n.*381G>C)
c.531G>C (p.Leu177Phe)
n.259+2430C>G
c.552G>C (p.Leu184Phe)
c.441G>C (p.Leu147Phe)
c.505-63946G>C (n.505-63946G>C)
10g.74525336G>TCA377397987ADKc.636G>T (p.Leu212Phe)
c.585G>T (p.Leu195Phe)
c.360G>T (p.Leu120Phe)
c.556-63946G>T (n.556-63946G>T)
c.376G>T
c.*381G>T (n.*381G>T)
c.531G>T (p.Leu177Phe)
n.259+2430C>A
c.552G>T (p.Leu184Phe)
c.441G>T (p.Leu147Phe)
c.505-63946G>T (n.505-63946G>T)
10g.74525337A>CCA377397989ADKc.637A>C (p.Asn213His)
c.586A>C (p.Asn196His)
c.361A>C (p.Asn121His)
c.556-63945A>C (n.556-63945A>C)
c.377A>C
c.*382A>C (n.*382A>C)
c.532A>C (p.Asn178His)
n.259+2429T>G
c.553A>C (p.Asn185His)
c.442A>C (p.Asn148His)
c.505-63945A>C (n.505-63945A>C)
10g.74525337A>GCA377397990ADKc.637A>G (p.Asn213Asp)
c.586A>G (p.Asn196Asp)
c.361A>G (p.Asn121Asp)
c.556-63945A>G (n.556-63945A>G)
c.377A>G
c.*382A>G (n.*382A>G)
c.532A>G (p.Asn178Asp)
n.259+2429T>C
c.553A>G (p.Asn185Asp)
c.442A>G (p.Asn148Asp)
c.505-63945A>G (n.505-63945A>G)
10g.74525337A>TCA377397991ADKc.637A>T (p.Asn213Tyr)
c.586A>T (p.Asn196Tyr)
c.361A>T (p.Asn121Tyr)
c.556-63945A>T (n.556-63945A>T)
c.377A>T
c.*382A>T (n.*382A>T)
c.532A>T (p.Asn178Tyr)
n.259+2429T>A
c.553A>T (p.Asn185Tyr)
c.442A>T (p.Asn148Tyr)
c.505-63945A>T (n.505-63945A>T)
10g.74525338A>CCA377397992ADKc.638A>C (p.Asn213Thr)
c.587A>C (p.Asn196Thr)
c.362A>C (p.Asn121Thr)
c.556-63944A>C (n.556-63944A>C)
c.378A>C
c.*383A>C (n.*383A>C)
c.533A>C (p.Asn178Thr)
n.259+2428T>G
c.554A>C (p.Asn185Thr)
c.443A>C (p.Asn148Thr)
c.505-63944A>C (n.505-63944A>C)
10g.74525338A>GCA377397993ADKc.638A>G (p.Asn213Ser)
c.587A>G (p.Asn196Ser)
c.362A>G (p.Asn121Ser)
c.556-63944A>G (n.556-63944A>G)
c.378A>G
c.*383A>G (n.*383A>G)
c.533A>G (p.Asn178Ser)
n.259+2428T>C
c.554A>G (p.Asn185Ser)
c.443A>G (p.Asn148Ser)
c.505-63944A>G (n.505-63944A>G)
10g.74525338A>TCA377397994ADKc.638A>T (p.Asn213Ile)
c.587A>T (p.Asn196Ile)
c.362A>T (p.Asn121Ile)
c.556-63944A>T (n.556-63944A>T)
c.378A>T
c.*383A>T (n.*383A>T)
c.533A>T (p.Asn178Ile)
n.259+2428T>A
c.554A>T (p.Asn185Ile)
c.443A>T (p.Asn148Ile)
c.505-63944A>T (n.505-63944A>T)
10g.74525342_74525345delCA2582342700ADKc.642_645del (p.Ser215HisfsTer12)
c.591_594del (p.Ser198HisfsTer12)
c.366_369del (p.Ser123HisfsTer12)
c.556-63940_556-63937del (n.556-63940_556-63937del)
c.382_385del
c.*387_*390del (n.*387_*390del)
c.537_540del (p.Ser180HisfsTer12)
n.259+2425_259+2428del
c.558_561del (p.Ser187HisfsTer12)
c.447_450del (p.Ser150HisfsTer12)
c.505-63940_505-63937del (n.505-63940_505-63937del)
ClinVar
10g.74525339T>ACA377397996ADKc.639T>A (p.Asn213Lys)
c.588T>A (p.Asn196Lys)
c.363T>A (p.Asn121Lys)
c.556-63943T>A (n.556-63943T>A)
c.379T>A
c.*384T>A (n.*384T>A)
c.534T>A (p.Asn178Lys)
n.259+2427A>T
c.555T>A (p.Asn185Lys)
c.444T>A (p.Asn148Lys)
c.505-63943T>A (n.505-63943T>A)
10g.74525339T>CCA470254821ADKc.639T>C (p.Asn213=)
c.588T>C (p.Asn196=)
c.363T>C (p.Asn121=)
c.556-63943T>C (n.556-63943T>C)
c.379T>C
c.*384T>C (n.*384T>C)
c.534T>C (p.Asn178=)
n.259+2427A>G
c.555T>C (p.Asn185=)
c.444T>C (p.Asn148=)
c.505-63943T>C (n.505-63943T>C)
10g.74525339T>GCA377397995ADKc.639T>G (p.Asn213Lys)
c.588T>G (p.Asn196Lys)
c.363T>G (p.Asn121Lys)
c.556-63943T>G (n.556-63943T>G)
c.379T>G
c.*384T>G (n.*384T>G)
c.534T>G (p.Asn178Lys)
n.259+2427A>C
c.555T>G (p.Asn185Lys)
c.444T>G (p.Asn148Lys)
c.505-63943T>G (n.505-63943T>G)
10g.74525340C>ACA377397997ADKc.640C>A (p.Leu214Ile)
c.589C>A (p.Leu197Ile)
c.364C>A (p.Leu122Ile)
c.556-63942C>A (n.556-63942C>A)
c.380C>A
c.*385C>A (n.*385C>A)
c.535C>A (p.Leu179Ile)
n.259+2426G>T
c.556C>A (p.Leu186Ile)
c.445C>A (p.Leu149Ile)
c.505-63942C>A (n.505-63942C>A)
10g.74525340C>GCA377397998ADKc.640C>G (p.Leu214Val)
c.589C>G (p.Leu197Val)
c.364C>G (p.Leu122Val)
c.556-63942C>G (n.556-63942C>G)
c.380C>G
c.*385C>G (n.*385C>G)
c.535C>G (p.Leu179Val)
n.259+2426G>C
c.556C>G (p.Leu186Val)
c.445C>G (p.Leu149Val)
c.505-63942C>G (n.505-63942C>G)
10g.74525340C>TCA470254822ADKc.640C>T (p.Leu214=)
c.589C>T (p.Leu197=)
c.364C>T (p.Leu122=)
c.556-63942C>T (n.556-63942C>T)
c.380C>T
c.*385C>T (n.*385C>T)
c.535C>T (p.Leu179=)
n.259+2426G>A
c.556C>T (p.Leu186=)
c.445C>T (p.Leu149=)
c.505-63942C>T (n.505-63942C>T)
10g.74525341T>ACA377397999ADKc.641T>A (p.Leu214Gln)
c.590T>A (p.Leu197Gln)
c.365T>A (p.Leu122Gln)
c.556-63941T>A (n.556-63941T>A)
c.381T>A
c.*386T>A (n.*386T>A)
c.536T>A (p.Leu179Gln)
n.259+2425A>T
c.557T>A (p.Leu186Gln)
c.446T>A (p.Leu149Gln)
c.505-63941T>A (n.505-63941T>A)
10g.74525341T>CCA377398000ADKc.641T>C (p.Leu214Pro)
c.590T>C (p.Leu197Pro)
c.365T>C (p.Leu122Pro)
c.556-63941T>C (n.556-63941T>C)
c.381T>C
c.*386T>C (n.*386T>C)
c.536T>C (p.Leu179Pro)
n.259+2425A>G
c.557T>C (p.Leu186Pro)
c.446T>C (p.Leu149Pro)
c.505-63941T>C (n.505-63941T>C)
10g.74525341T>GCA377398001ADKc.641T>G (p.Leu214Arg)
c.590T>G (p.Leu197Arg)
c.365T>G (p.Leu122Arg)
c.556-63941T>G (n.556-63941T>G)
c.381T>G
c.*386T>G (n.*386T>G)
c.536T>G (p.Leu179Arg)
n.259+2425A>C
c.557T>G (p.Leu186Arg)
c.446T>G (p.Leu149Arg)
c.505-63941T>G (n.505-63941T>G)
10g.74525342A=CA1920088390ADKc.642A= (p.Leu214=)
c.591A= (p.Leu197=)
c.366A= (p.Leu122=)
c.556-63940A= (n.556-63940A=)
c.382A=
c.*387A= (n.*387A=)
c.537A= (p.Leu179=)
n.259+2424T=
c.558A= (p.Leu186=)
c.447A= (p.Leu149=)
c.505-63940A= (n.505-63940A=)
10g.74525342A>CCA470254824ADKc.642A>C (p.Leu214=)
c.591A>C (p.Leu197=)
c.366A>C (p.Leu122=)
c.556-63940A>C (n.556-63940A>C)
c.382A>C
c.*387A>C (n.*387A>C)
c.537A>C (p.Leu179=)
n.259+2424T>G
c.558A>C (p.Leu186=)
c.447A>C (p.Leu149=)
c.505-63940A>C (n.505-63940A>C)
10g.74525342A>GCA5564007ADKc.642A>G (p.Leu214=)
c.591A>G (p.Leu197=)
c.366A>G (p.Leu122=)
c.556-63940A>G (n.556-63940A>G)
c.382A>G
c.*387A>G (n.*387A>G)
c.537A>G (p.Leu179=)
n.259+2424T>C
c.558A>G (p.Leu186=)
c.447A>G (p.Leu149=)
c.505-63940A>G (n.505-63940A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525342A>TCA470254823ADKc.642A>T (p.Leu214=)
c.591A>T (p.Leu197=)
c.366A>T (p.Leu122=)
c.556-63940A>T (n.556-63940A>T)
c.382A>T
c.*387A>T (n.*387A>T)
c.537A>T (p.Leu179=)
n.259+2424T>A
c.558A>T (p.Leu186=)
c.447A>T (p.Leu149=)
c.505-63940A>T (n.505-63940A>T)
10g.74525343T>ACA377398002ADKc.643T>A (p.Ser215Thr)
c.592T>A (p.Ser198Thr)
c.367T>A (p.Ser123Thr)
c.556-63939T>A (n.556-63939T>A)
c.383T>A
c.*388T>A (n.*388T>A)
c.538T>A (p.Ser180Thr)
n.259+2423A>T
c.559T>A (p.Ser187Thr)
c.448T>A (p.Ser150Thr)
c.505-63939T>A (n.505-63939T>A)
dbSNP
10g.74525343T>CCA377398004ADKc.643T>C (p.Ser215Pro)
c.592T>C (p.Ser198Pro)
c.367T>C (p.Ser123Pro)
c.556-63939T>C (n.556-63939T>C)
c.383T>C
c.*388T>C (n.*388T>C)
c.538T>C (p.Ser180Pro)
n.259+2423A>G
c.559T>C (p.Ser187Pro)
c.448T>C (p.Ser150Pro)
c.505-63939T>C (n.505-63939T>C)
10g.74525343T>GCA377398003ADKc.643T>G (p.Ser215Ala)
c.592T>G (p.Ser198Ala)
c.367T>G (p.Ser123Ala)
c.556-63939T>G (n.556-63939T>G)
c.383T>G
c.*388T>G (n.*388T>G)
c.538T>G (p.Ser180Ala)
n.259+2423A>C
c.559T>G (p.Ser187Ala)
c.448T>G (p.Ser150Ala)
c.505-63939T>G (n.505-63939T>G)
10g.74525343T=CA1920088394ADKc.643T= (p.Ser215=)
c.592T= (p.Ser198=)
c.367T= (p.Ser123=)
c.556-63939T= (n.556-63939T=)
c.383T=
c.*388T= (n.*388T=)
c.538T= (p.Ser180=)
n.259+2423A=
c.559T= (p.Ser187=)
c.448T= (p.Ser150=)
c.505-63939T= (n.505-63939T=)
10g.74525344C>ACA377398005ADKc.644C>A (p.Ser215Tyr)
c.593C>A (p.Ser198Tyr)
c.368C>A (p.Ser123Tyr)
c.556-63938C>A (n.556-63938C>A)
c.384C>A
c.*389C>A (n.*389C>A)
c.539C>A (p.Ser180Tyr)
n.259+2422G>T
c.560C>A (p.Ser187Tyr)
c.449C>A (p.Ser150Tyr)
c.505-63938C>A (n.505-63938C>A)
10g.74525344C>GCA377398006ADKc.644C>G (p.Ser215Cys)
c.593C>G (p.Ser198Cys)
c.368C>G (p.Ser123Cys)
c.556-63938C>G (n.556-63938C>G)
c.384C>G
c.*389C>G (n.*389C>G)
c.539C>G (p.Ser180Cys)
n.259+2422G>C
c.560C>G (p.Ser187Cys)
c.449C>G (p.Ser150Cys)
c.505-63938C>G (n.505-63938C>G)
10g.74525344C>TCA377398007ADKc.644C>T (p.Ser215Phe)
c.593C>T (p.Ser198Phe)
c.368C>T (p.Ser123Phe)
c.556-63938C>T (n.556-63938C>T)
c.384C>T
c.*389C>T (n.*389C>T)
c.539C>T (p.Ser180Phe)
n.259+2422G>A
c.560C>T (p.Ser187Phe)
c.449C>T (p.Ser150Phe)
c.505-63938C>T (n.505-63938C>T)
10g.74525345T>ACA470254825ADKc.645T>A (p.Ser215=)
c.594T>A (p.Ser198=)
c.369T>A (p.Ser123=)
c.556-63937T>A (n.556-63937T>A)
c.385T>A
c.*390T>A (n.*390T>A)
c.540T>A (p.Ser180=)
n.259+2421A>T
c.561T>A (p.Ser187=)
c.450T>A (p.Ser150=)
c.505-63937T>A (n.505-63937T>A)
10g.74525345T>CCA470254826ADKc.645T>C (p.Ser215=)
c.594T>C (p.Ser198=)
c.369T>C (p.Ser123=)
c.556-63937T>C (n.556-63937T>C)
c.385T>C
c.*390T>C (n.*390T>C)
c.540T>C (p.Ser180=)
n.259+2421A>G
c.561T>C (p.Ser187=)
c.450T>C (p.Ser150=)
c.505-63937T>C (n.505-63937T>C)
10g.74525345T>GCA470254827ADKc.645T>G (p.Ser215=)
c.594T>G (p.Ser198=)
c.369T>G (p.Ser123=)
c.556-63937T>G (n.556-63937T>G)
c.385T>G
c.*390T>G (n.*390T>G)
c.540T>G (p.Ser180=)
n.259+2421A>C
c.561T>G (p.Ser187=)
c.450T>G (p.Ser150=)
c.505-63937T>G (n.505-63937T>G)
10g.74525346G>ACA377398008ADKc.646G>A (p.Ala216Thr)
c.595G>A (p.Ala199Thr)
c.370G>A (p.Ala124Thr)
c.556-63936G>A (n.556-63936G>A)
c.386G>A
c.*391G>A (n.*391G>A)
c.541G>A (p.Ala181Thr)
n.259+2420C>T
c.562G>A (p.Ala188Thr)
c.451G>A (p.Ala151Thr)
c.505-63936G>A (n.505-63936G>A)
10g.74525346G>CCA377398009ADKc.646G>C (p.Ala216Pro)
c.595G>C (p.Ala199Pro)
c.370G>C (p.Ala124Pro)
c.556-63936G>C (n.556-63936G>C)
c.386G>C
c.*391G>C (n.*391G>C)
c.541G>C (p.Ala181Pro)
n.259+2420C>G
c.562G>C (p.Ala188Pro)
c.451G>C (p.Ala151Pro)
c.505-63936G>C (n.505-63936G>C)
10g.74525346G=CA1920088398ADKc.646G= (p.Ala216=)
c.595G= (p.Ala199=)
c.370G= (p.Ala124=)
c.556-63936G= (n.556-63936G=)
c.386G=
c.*391G= (n.*391G=)
c.541G= (p.Ala181=)
n.259+2420C=
c.562G= (p.Ala188=)
c.451G= (p.Ala151=)
c.505-63936G= (n.505-63936G=)
10g.74525346G>TCA377398010ADKc.646G>T (p.Ala216Ser)
c.595G>T (p.Ala199Ser)
c.370G>T (p.Ala124Ser)
c.556-63936G>T (n.556-63936G>T)
c.386G>T
c.*391G>T (n.*391G>T)
c.541G>T (p.Ala181Ser)
n.259+2420C>A
c.562G>T (p.Ala188Ser)
c.451G>T (p.Ala151Ser)
c.505-63936G>T (n.505-63936G>T)
dbSNP gnomAD v4
10g.74525347C>ACA377398011ADKc.647C>A (p.Ala216Glu)
c.596C>A (p.Ala199Glu)
c.371C>A (p.Ala124Glu)
c.556-63935C>A (n.556-63935C>A)
c.387C>A
c.*392C>A (n.*392C>A)
c.542C>A (p.Ala181Glu)
n.259+2419G>T
c.563C>A (p.Ala188Glu)
c.452C>A (p.Ala151Glu)
c.505-63935C>A (n.505-63935C>A)
10g.74525347C>GCA377398012ADKc.647C>G (p.Ala216Gly)
c.596C>G (p.Ala199Gly)
c.371C>G (p.Ala124Gly)
c.556-63935C>G (n.556-63935C>G)
c.387C>G
c.*392C>G (n.*392C>G)
c.542C>G (p.Ala181Gly)
n.259+2419G>C
c.563C>G (p.Ala188Gly)
c.452C>G (p.Ala151Gly)
c.505-63935C>G (n.505-63935C>G)
10g.74525347C>TCA377398013ADKc.647C>T (p.Ala216Val)
c.596C>T (p.Ala199Val)
c.371C>T (p.Ala124Val)
c.556-63935C>T (n.556-63935C>T)
c.387C>T
c.*392C>T (n.*392C>T)
c.542C>T (p.Ala181Val)
n.259+2419G>A
c.563C>T (p.Ala188Val)
c.452C>T (p.Ala151Val)
c.505-63935C>T (n.505-63935C>T)
10g.74525348A>CCA470254829ADKc.648A>C (p.Ala216=)
c.597A>C (p.Ala199=)
c.372A>C (p.Ala124=)
c.556-63934A>C (n.556-63934A>C)
c.388A>C
c.*393A>C (n.*393A>C)
c.543A>C (p.Ala181=)
n.259+2418T>G
c.564A>C (p.Ala188=)
c.453A>C (p.Ala151=)
c.505-63934A>C (n.505-63934A>C)
10g.74525348A>GCA470254830ADKc.648A>G (p.Ala216=)
c.597A>G (p.Ala199=)
c.372A>G (p.Ala124=)
c.556-63934A>G (n.556-63934A>G)
c.388A>G
c.*393A>G (n.*393A>G)
c.543A>G (p.Ala181=)
n.259+2418T>C
c.564A>G (p.Ala188=)
c.453A>G (p.Ala151=)
c.505-63934A>G (n.505-63934A>G)
10g.74525348A>TCA470254831ADKc.648A>T (p.Ala216=)
c.597A>T (p.Ala199=)
c.372A>T (p.Ala124=)
c.556-63934A>T (n.556-63934A>T)
c.388A>T
c.*393A>T (n.*393A>T)
c.543A>T (p.Ala181=)
n.259+2418T>A
c.564A>T (p.Ala188=)
c.453A>T (p.Ala151=)
c.505-63934A>T (n.505-63934A>T)
10g.74525349C>ACA377398014ADKc.649C>A (p.Pro217Thr)
c.598C>A (p.Pro200Thr)
c.373C>A (p.Pro125Thr)
c.556-63933C>A (n.556-63933C>A)
c.389C>A
c.*394C>A (n.*394C>A)
c.544C>A (p.Pro182Thr)
n.259+2417G>T
c.565C>A (p.Pro189Thr)
c.454C>A (p.Pro152Thr)
c.505-63933C>A (n.505-63933C>A)
10g.74525349C>GCA377398015ADKc.649C>G (p.Pro217Ala)
c.598C>G (p.Pro200Ala)
c.373C>G (p.Pro125Ala)
c.556-63933C>G (n.556-63933C>G)
c.389C>G
c.*394C>G (n.*394C>G)
c.544C>G (p.Pro182Ala)
n.259+2417G>C
c.565C>G (p.Pro189Ala)
c.454C>G (p.Pro152Ala)
c.505-63933C>G (n.505-63933C>G)
10g.74525349C>TCA377398016ADKc.649C>T (p.Pro217Ser)
c.598C>T (p.Pro200Ser)
c.373C>T (p.Pro125Ser)
c.556-63933C>T (n.556-63933C>T)
c.389C>T
c.*394C>T (n.*394C>T)
c.544C>T (p.Pro182Ser)
n.259+2417G>A
c.565C>T (p.Pro189Ser)
c.454C>T (p.Pro152Ser)
c.505-63933C>T (n.505-63933C>T)
10g.74525350C>ACA377398017ADKc.650C>A (p.Pro217Gln)
c.599C>A (p.Pro200Gln)
c.374C>A (p.Pro125Gln)
c.556-63932C>A (n.556-63932C>A)
c.390C>A
c.*395C>A (n.*395C>A)
c.545C>A (p.Pro182Gln)
n.259+2416G>T
c.566C>A (p.Pro189Gln)
c.455C>A (p.Pro152Gln)
c.505-63932C>A (n.505-63932C>A)
10g.74525350C=CA1920088400ADKc.650C= (p.Pro217=)
c.599C= (p.Pro200=)
c.374C= (p.Pro125=)
c.556-63932C= (n.556-63932C=)
c.390C=
c.*395C= (n.*395C=)
c.545C= (p.Pro182=)
n.259+2416G=
c.566C= (p.Pro189=)
c.455C= (p.Pro152=)
c.505-63932C= (n.505-63932C=)
10g.74525350C>GCA377398018ADKc.650C>G (p.Pro217Arg)
c.599C>G (p.Pro200Arg)
c.374C>G (p.Pro125Arg)
c.556-63932C>G (n.556-63932C>G)
c.390C>G
c.*395C>G (n.*395C>G)
c.545C>G (p.Pro182Arg)
n.259+2416G>C
c.566C>G (p.Pro189Arg)
c.455C>G (p.Pro152Arg)
c.505-63932C>G (n.505-63932C>G)
10g.74525350C>TCA5564008ADKc.650C>T (p.Pro217Leu)
c.599C>T (p.Pro200Leu)
c.374C>T (p.Pro125Leu)
c.556-63932C>T (n.556-63932C>T)
c.390C>T
c.*395C>T (n.*395C>T)
c.545C>T (p.Pro182Leu)
n.259+2416G>A
c.566C>T (p.Pro189Leu)
c.455C>T (p.Pro152Leu)
c.505-63932C>T (n.505-63932C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525351G>ACA209874923ADKc.651G>A (p.Pro217=)
c.600G>A (p.Pro200=)
c.375G>A (p.Pro125=)
c.556-63931G>A (n.556-63931G>A)
c.391G>A
c.*396G>A (n.*396G>A)
c.546G>A (p.Pro182=)
n.259+2415C>T
c.567G>A (p.Pro189=)
c.456G>A (p.Pro152=)
c.505-63931G>A (n.505-63931G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74525351G>CCA470254832ADKc.651G>C (p.Pro217=)
c.600G>C (p.Pro200=)
c.375G>C (p.Pro125=)
c.556-63931G>C (n.556-63931G>C)
c.391G>C
c.*396G>C (n.*396G>C)
c.546G>C (p.Pro182=)
n.259+2415C>G
c.567G>C (p.Pro189=)
c.456G>C (p.Pro152=)
c.505-63931G>C (n.505-63931G>C)
10g.74525351G=CA1920088403ADKc.651G= (p.Pro217=)
c.600G= (p.Pro200=)
c.375G= (p.Pro125=)
c.556-63931G= (n.556-63931G=)
c.391G=
c.*396G= (n.*396G=)
c.546G= (p.Pro182=)
n.259+2415C=
c.567G= (p.Pro189=)
c.456G= (p.Pro152=)
c.505-63931G= (n.505-63931G=)
10g.74525351G>TCA470254833ADKc.651G>T (p.Pro217=)
c.600G>T (p.Pro200=)
c.375G>T (p.Pro125=)
c.556-63931G>T (n.556-63931G>T)
c.391G>T
c.*396G>T (n.*396G>T)
c.546G>T (p.Pro182=)
n.259+2415C>A
c.567G>T (p.Pro189=)
c.456G>T (p.Pro152=)
c.505-63931G>T (n.505-63931G>T)
10g.74525352T>ACA377398019ADKc.652T>A (p.Phe218Ile)
c.601T>A (p.Phe201Ile)
c.376T>A (p.Phe126Ile)
c.556-63930T>A (n.556-63930T>A)
c.392T>A
c.*397T>A (n.*397T>A)
c.547T>A (p.Phe183Ile)
n.259+2414A>T
c.568T>A (p.Phe190Ile)
c.457T>A (p.Phe153Ile)
c.505-63930T>A (n.505-63930T>A)
10g.74525352T>CCA377398021ADKc.652T>C (p.Phe218Leu)
c.601T>C (p.Phe201Leu)
c.376T>C (p.Phe126Leu)
c.556-63930T>C (n.556-63930T>C)
c.392T>C
c.*397T>C (n.*397T>C)
c.547T>C (p.Phe183Leu)
n.259+2414A>G
c.568T>C (p.Phe190Leu)
c.457T>C (p.Phe153Leu)
c.505-63930T>C (n.505-63930T>C)
10g.74525352T>GCA377398020ADKc.652T>G (p.Phe218Val)
c.601T>G (p.Phe201Val)
c.376T>G (p.Phe126Val)
c.556-63930T>G (n.556-63930T>G)
c.392T>G
c.*397T>G (n.*397T>G)
c.547T>G (p.Phe183Val)
n.259+2414A>C
c.568T>G (p.Phe190Val)
c.457T>G (p.Phe153Val)
c.505-63930T>G (n.505-63930T>G)
10g.74525353T>ACA377398022ADKc.653T>A (p.Phe218Tyr)
c.602T>A (p.Phe201Tyr)
c.377T>A (p.Phe126Tyr)
c.556-63929T>A (n.556-63929T>A)
c.393T>A
c.*398T>A (n.*398T>A)
c.548T>A (p.Phe183Tyr)
n.259+2413A>T
c.569T>A (p.Phe190Tyr)
c.458T>A (p.Phe153Tyr)
c.505-63929T>A (n.505-63929T>A)
10g.74525353T>CCA377398023ADKc.653T>C (p.Phe218Ser)
c.602T>C (p.Phe201Ser)
c.377T>C (p.Phe126Ser)
c.556-63929T>C (n.556-63929T>C)
c.393T>C
c.*398T>C (n.*398T>C)
c.548T>C (p.Phe183Ser)
n.259+2413A>G
c.569T>C (p.Phe190Ser)
c.458T>C (p.Phe153Ser)
c.505-63929T>C (n.505-63929T>C)
dbSNP
10g.74525353T>GCA377398024ADKc.653T>G (p.Phe218Cys)
c.602T>G (p.Phe201Cys)
c.377T>G (p.Phe126Cys)
c.556-63929T>G (n.556-63929T>G)
c.393T>G
c.*398T>G (n.*398T>G)
c.548T>G (p.Phe183Cys)
n.259+2413A>C
c.569T>G (p.Phe190Cys)
c.458T>G (p.Phe153Cys)
c.505-63929T>G (n.505-63929T>G)
10g.74525353T=CA1920088405ADKc.653T= (p.Phe218=)
c.602T= (p.Phe201=)
c.377T= (p.Phe126=)
c.556-63929T= (n.556-63929T=)
c.393T=
c.*398T= (n.*398T=)
c.548T= (p.Phe183=)
n.259+2413A=
c.569T= (p.Phe190=)
c.458T= (p.Phe153=)
c.505-63929T= (n.505-63929T=)
10g.74525354T>ACA377398025ADKc.654T>A (p.Phe218Leu)
c.603T>A (p.Phe201Leu)
c.378T>A (p.Phe126Leu)
c.556-63928T>A (n.556-63928T>A)
c.394T>A
c.*399T>A (n.*399T>A)
c.549T>A (p.Phe183Leu)
n.259+2412A>T
c.570T>A (p.Phe190Leu)
c.459T>A (p.Phe153Leu)
c.505-63928T>A (n.505-63928T>A)
10g.74525354T>CCA470254834ADKc.654T>C (p.Phe218=)
c.603T>C (p.Phe201=)
c.378T>C (p.Phe126=)
c.556-63928T>C (n.556-63928T>C)
c.394T>C
c.*399T>C (n.*399T>C)
c.549T>C (p.Phe183=)
n.259+2412A>G
c.570T>C (p.Phe190=)
c.459T>C (p.Phe153=)
c.505-63928T>C (n.505-63928T>C)
gnomAD v4
10g.74525354T>GCA377398026ADKc.654T>G (p.Phe218Leu)
c.603T>G (p.Phe201Leu)
c.378T>G (p.Phe126Leu)
c.556-63928T>G (n.556-63928T>G)
c.394T>G
c.*399T>G (n.*399T>G)
c.549T>G (p.Phe183Leu)
n.259+2412A>C
c.570T>G (p.Phe190Leu)
c.459T>G (p.Phe153Leu)
c.505-63928T>G (n.505-63928T>G)
10g.74525355A>CCA377398027ADKc.655A>C (p.Ile219Leu)
c.604A>C (p.Ile202Leu)
c.379A>C (p.Ile127Leu)
c.556-63927A>C (n.556-63927A>C)
c.395A>C
c.*400A>C (n.*400A>C)
c.550A>C (p.Ile184Leu)
n.259+2411T>G
c.571A>C (p.Ile191Leu)
c.460A>C (p.Ile154Leu)
c.505-63927A>C (n.505-63927A>C)
10g.74525355A>GCA377398028ADKc.655A>G (p.Ile219Val)
c.604A>G (p.Ile202Val)
c.379A>G (p.Ile127Val)
c.556-63927A>G (n.556-63927A>G)
c.395A>G
c.*400A>G (n.*400A>G)
c.550A>G (p.Ile184Val)
n.259+2411T>C
c.571A>G (p.Ile191Val)
c.460A>G (p.Ile154Val)
c.505-63927A>G (n.505-63927A>G)
10g.74525355A>TCA377398029ADKc.655A>T (p.Ile219Phe)
c.604A>T (p.Ile202Phe)
c.379A>T (p.Ile127Phe)
c.556-63927A>T (n.556-63927A>T)
c.395A>T
c.*400A>T (n.*400A>T)
c.550A>T (p.Ile184Phe)
n.259+2411T>A
c.571A>T (p.Ile191Phe)
c.460A>T (p.Ile154Phe)
c.505-63927A>T (n.505-63927A>T)
10g.74525356T>ACA377398030ADKc.656T>A (p.Ile219Asn)
c.605T>A (p.Ile202Asn)
c.380T>A (p.Ile127Asn)
c.556-63926T>A (n.556-63926T>A)
c.396T>A
c.*401T>A (n.*401T>A)
c.551T>A (p.Ile184Asn)
n.259+2410A>T
c.572T>A (p.Ile191Asn)
c.461T>A (p.Ile154Asn)
c.505-63926T>A (n.505-63926T>A)
10g.74525356T>CCA377398031ADKc.656T>C (p.Ile219Thr)
c.605T>C (p.Ile202Thr)
c.380T>C (p.Ile127Thr)
c.556-63926T>C (n.556-63926T>C)
c.396T>C
c.*401T>C (n.*401T>C)
c.551T>C (p.Ile184Thr)
n.259+2410A>G
c.572T>C (p.Ile191Thr)
c.461T>C (p.Ile154Thr)
c.505-63926T>C (n.505-63926T>C)
10g.74525356T>GCA377398032ADKc.656T>G (p.Ile219Ser)
c.605T>G (p.Ile202Ser)
c.380T>G (p.Ile127Ser)
c.556-63926T>G (n.556-63926T>G)
c.396T>G
c.*401T>G (n.*401T>G)
c.551T>G (p.Ile184Ser)
n.259+2410A>C
c.572T>G (p.Ile191Ser)
c.461T>G (p.Ile154Ser)
c.505-63926T>G (n.505-63926T>G)
10g.74525357T>ACA470254835ADKc.657T>A (p.Ile219=)
c.606T>A (p.Ile202=)
c.381T>A (p.Ile127=)
c.556-63925T>A (n.556-63925T>A)
c.397T>A
c.*402T>A (n.*402T>A)
c.552T>A (p.Ile184=)
n.259+2409A>T
c.573T>A (p.Ile191=)
c.462T>A (p.Ile154=)
c.505-63925T>A (n.505-63925T>A)
10g.74525357T>CCA470254836ADKc.657T>C (p.Ile219=)
c.606T>C (p.Ile202=)
c.381T>C (p.Ile127=)
c.556-63925T>C (n.556-63925T>C)
c.397T>C
c.*402T>C (n.*402T>C)
c.552T>C (p.Ile184=)
n.259+2409A>G
c.573T>C (p.Ile191=)
c.462T>C (p.Ile154=)
c.505-63925T>C (n.505-63925T>C)
gnomAD v4
10g.74525357T>GCA377398033ADKc.657T>G (p.Ile219Met)
c.606T>G (p.Ile202Met)
c.381T>G (p.Ile127Met)
c.556-63925T>G (n.556-63925T>G)
c.397T>G
c.*402T>G (n.*402T>G)
c.552T>G (p.Ile184Met)
n.259+2409A>C
c.573T>G (p.Ile191Met)
c.462T>G (p.Ile154Met)
c.505-63925T>G (n.505-63925T>G)
10g.74525358A>CCA377398036ADKc.658A>C (p.Ser220Arg)
c.607A>C (p.Ser203Arg)
c.382A>C (p.Ser128Arg)
c.556-63924A>C (n.556-63924A>C)
c.398A>C
c.*403A>C (n.*403A>C)
c.553A>C (p.Ser185Arg)
n.259+2408T>G
c.574A>C (p.Ser192Arg)
c.463A>C (p.Ser155Arg)
c.505-63924A>C (n.505-63924A>C)
10g.74525358A>GCA377398034ADKc.658A>G (p.Ser220Gly)
c.607A>G (p.Ser203Gly)
c.382A>G (p.Ser128Gly)
c.556-63924A>G (n.556-63924A>G)
c.398A>G
c.*403A>G (n.*403A>G)
c.553A>G (p.Ser185Gly)
n.259+2408T>C
c.574A>G (p.Ser192Gly)
c.463A>G (p.Ser155Gly)
c.505-63924A>G (n.505-63924A>G)
gnomAD v4
10g.74525358A>TCA377398035ADKc.658A>T (p.Ser220Cys)
c.607A>T (p.Ser203Cys)
c.382A>T (p.Ser128Cys)
c.556-63924A>T (n.556-63924A>T)
c.398A>T
c.*403A>T (n.*403A>T)
c.553A>T (p.Ser185Cys)
n.259+2408T>A
c.574A>T (p.Ser192Cys)
c.463A>T (p.Ser155Cys)
c.505-63924A>T (n.505-63924A>T)
10g.74525359G>ACA377398037ADKc.659G>A (p.Ser220Asn)
c.608G>A (p.Ser203Asn)
c.383G>A (p.Ser128Asn)
c.556-63923G>A (n.556-63923G>A)
c.399G>A
c.*404G>A (n.*404G>A)
c.554G>A (p.Ser185Asn)
n.259+2407C>T
c.575G>A (p.Ser192Asn)
c.464G>A (p.Ser155Asn)
c.505-63923G>A (n.505-63923G>A)
10g.74525359G>CCA377398038ADKc.659G>C (p.Ser220Thr)
c.608G>C (p.Ser203Thr)
c.383G>C (p.Ser128Thr)
c.556-63923G>C (n.556-63923G>C)
c.399G>C
c.*404G>C (n.*404G>C)
c.554G>C (p.Ser185Thr)
n.259+2407C>G
c.575G>C (p.Ser192Thr)
c.464G>C (p.Ser155Thr)
c.505-63923G>C (n.505-63923G>C)
10g.74525359G>TCA377398039ADKc.659G>T (p.Ser220Ile)
c.608G>T (p.Ser203Ile)
c.383G>T (p.Ser128Ile)
c.556-63923G>T (n.556-63923G>T)
c.399G>T
c.*404G>T (n.*404G>T)
c.554G>T (p.Ser185Ile)
n.259+2407C>A
c.575G>T (p.Ser192Ile)
c.464G>T (p.Ser155Ile)
c.505-63923G>T (n.505-63923G>T)
10g.74525360C>ACA377398040ADKc.660C>A (p.Ser220Arg)
c.609C>A (p.Ser203Arg)
c.384C>A (p.Ser128Arg)
c.556-63922C>A (n.556-63922C>A)
c.400C>A
c.*405C>A (n.*405C>A)
c.555C>A (p.Ser185Arg)
n.259+2406G>T
c.576C>A (p.Ser192Arg)
c.465C>A (p.Ser155Arg)
c.505-63922C>A (n.505-63922C>A)
10g.74525360C=CA1920088408ADKc.660C= (p.Ser220=)
c.609C= (p.Ser203=)
c.384C= (p.Ser128=)
c.556-63922C= (n.556-63922C=)
c.400C=
c.*405C= (n.*405C=)
c.555C= (p.Ser185=)
n.259+2406G=
c.576C= (p.Ser192=)
c.465C= (p.Ser155=)
c.505-63922C= (n.505-63922C=)
10g.74525360C>GCA377398041ADKc.660C>G (p.Ser220Arg)
c.609C>G (p.Ser203Arg)
c.384C>G (p.Ser128Arg)
c.556-63922C>G (n.556-63922C>G)
c.400C>G
c.*405C>G (n.*405C>G)
c.555C>G (p.Ser185Arg)
n.259+2406G>C
c.576C>G (p.Ser192Arg)
c.465C>G (p.Ser155Arg)
c.505-63922C>G (n.505-63922C>G)
10g.74525360C>TCA5564009ADKc.660C>T (p.Ser220=)
c.609C>T (p.Ser203=)
c.384C>T (p.Ser128=)
c.556-63922C>T (n.556-63922C>T)
c.400C>T
c.*405C>T (n.*405C>T)
c.555C>T (p.Ser185=)
n.259+2406G>A
c.576C>T (p.Ser192=)
c.465C>T (p.Ser155=)
c.505-63922C>T (n.505-63922C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525361C>ACA377398042ADKc.661C>A (p.Gln221Lys)
c.610C>A (p.Gln204Lys)
c.385C>A (p.Gln129Lys)
c.556-63921C>A (n.556-63921C>A)
c.401C>A
c.*406C>A (n.*406C>A)
c.556C>A (p.Gln186Lys)
n.259+2405G>T
c.577C>A (p.Gln193Lys)
c.466C>A (p.Gln156Lys)
c.505-63921C>A (n.505-63921C>A)
10g.74525361C>GCA377398043ADKc.661C>G (p.Gln221Glu)
c.610C>G (p.Gln204Glu)
c.385C>G (p.Gln129Glu)
c.556-63921C>G (n.556-63921C>G)
c.401C>G
c.*406C>G (n.*406C>G)
c.556C>G (p.Gln186Glu)
n.259+2405G>C
c.577C>G (p.Gln193Glu)
c.466C>G (p.Gln156Glu)
c.505-63921C>G (n.505-63921C>G)
10g.74525361C>TCA377398044ADKc.661C>T (p.Gln221Ter)
c.610C>T (p.Gln204Ter)
c.385C>T (p.Gln129Ter)
c.556-63921C>T (n.556-63921C>T)
c.401C>T
c.*406C>T (n.*406C>T)
c.556C>T (p.Gln186Ter)
n.259+2405G>A
c.577C>T (p.Gln193Ter)
c.466C>T (p.Gln156Ter)
c.505-63921C>T (n.505-63921C>T)
gnomAD v4
10g.74525362A>CCA377398045ADKc.662A>C (p.Gln221Pro)
c.611A>C (p.Gln204Pro)
c.386A>C (p.Gln129Pro)
c.556-63920A>C (n.556-63920A>C)
c.402A>C
c.*407A>C (n.*407A>C)
c.557A>C (p.Gln186Pro)
n.259+2404T>G
c.578A>C (p.Gln193Pro)
c.467A>C (p.Gln156Pro)
c.505-63920A>C (n.505-63920A>C)
10g.74525362A>GCA377398046ADKc.662A>G (p.Gln221Arg)
c.611A>G (p.Gln204Arg)
c.386A>G (p.Gln129Arg)
c.556-63920A>G (n.556-63920A>G)
c.402A>G
c.*407A>G (n.*407A>G)
c.557A>G (p.Gln186Arg)
n.259+2404T>C
c.578A>G (p.Gln193Arg)
c.467A>G (p.Gln156Arg)
c.505-63920A>G (n.505-63920A>G)
10g.74525362A>TCA377398047ADKc.662A>T (p.Gln221Leu)
c.611A>T (p.Gln204Leu)
c.386A>T (p.Gln129Leu)
c.556-63920A>T (n.556-63920A>T)
c.402A>T
c.*407A>T (n.*407A>T)
c.557A>T (p.Gln186Leu)
n.259+2404T>A
c.578A>T (p.Gln193Leu)
c.467A>T (p.Gln156Leu)
c.505-63920A>T (n.505-63920A>T)
10g.74525363G>ACA470254837ADKc.663G>A (p.Gln221=)
c.612G>A (p.Gln204=)
c.387G>A (p.Gln129=)
c.556-63919G>A (n.556-63919G>A)
c.403G>A
c.*408G>A (n.*408G>A)
c.558G>A (p.Gln186=)
n.259+2403C>T
c.579G>A (p.Gln193=)
c.468G>A (p.Gln156=)
c.505-63919G>A (n.505-63919G>A)
10g.74525363G>CCA377398048ADKc.663G>C (p.Gln221His)
c.612G>C (p.Gln204His)
c.387G>C (p.Gln129His)
c.556-63919G>C (n.556-63919G>C)
c.403G>C
c.*408G>C (n.*408G>C)
c.558G>C (p.Gln186His)
n.259+2403C>G
c.579G>C (p.Gln193His)
c.468G>C (p.Gln156His)
c.505-63919G>C (n.505-63919G>C)
10g.74525363G>TCA377398049ADKc.663G>T (p.Gln221His)
c.612G>T (p.Gln204His)
c.387G>T (p.Gln129His)
c.556-63919G>T (n.556-63919G>T)
c.403G>T
c.*408G>T (n.*408G>T)
c.558G>T (p.Gln186His)
n.259+2403C>A
c.579G>T (p.Gln193His)
c.468G>T (p.Gln156His)
c.505-63919G>T (n.505-63919G>T)
10g.74525364T>ACA377398050ADKc.664T>A (p.Phe222Ile)
c.613T>A (p.Phe205Ile)
c.388T>A (p.Phe130Ile)
c.556-63918T>A (n.556-63918T>A)
c.404T>A
c.*409T>A (n.*409T>A)
c.559T>A (p.Phe187Ile)
n.1T>A
n.259+2402A>T
c.580T>A (p.Phe194Ile)
c.469T>A (p.Phe157Ile)
c.505-63918T>A (n.505-63918T>A)
10g.74525364T>CCA377398051ADKc.664T>C (p.Phe222Leu)
c.613T>C (p.Phe205Leu)
c.388T>C (p.Phe130Leu)
c.556-63918T>C (n.556-63918T>C)
c.404T>C
c.*409T>C (n.*409T>C)
c.559T>C (p.Phe187Leu)
n.1T>C
n.259+2402A>G
c.580T>C (p.Phe194Leu)
c.469T>C (p.Phe157Leu)
c.505-63918T>C (n.505-63918T>C)
10g.74525364T>GCA377398052ADKc.664T>G (p.Phe222Val)
c.613T>G (p.Phe205Val)
c.388T>G (p.Phe130Val)
c.556-63918T>G (n.556-63918T>G)
c.404T>G
c.*409T>G (n.*409T>G)
c.559T>G (p.Phe187Val)
n.1T>G
n.259+2402A>C
c.580T>G (p.Phe194Val)
c.469T>G (p.Phe157Val)
c.505-63918T>G (n.505-63918T>G)
10g.74525365T>ACA377398053ADKc.665T>A (p.Phe222Tyr)
c.614T>A (p.Phe205Tyr)
c.389T>A (p.Phe130Tyr)
c.556-63917T>A (n.556-63917T>A)
c.405T>A
c.*410T>A (n.*410T>A)
c.560T>A (p.Phe187Tyr)
n.2T>A
n.259+2401A>T
c.581T>A (p.Phe194Tyr)
c.470T>A (p.Phe157Tyr)
c.505-63917T>A (n.505-63917T>A)
10g.74525365T>CCA377398054ADKc.665T>C (p.Phe222Ser)
c.614T>C (p.Phe205Ser)
c.389T>C (p.Phe130Ser)
c.556-63917T>C (n.556-63917T>C)
c.405T>C
c.*410T>C (n.*410T>C)
c.560T>C (p.Phe187Ser)
n.2T>C
n.259+2401A>G
c.581T>C (p.Phe194Ser)
c.470T>C (p.Phe157Ser)
c.505-63917T>C (n.505-63917T>C)
10g.74525365T>GCA377398055ADKc.665T>G (p.Phe222Cys)
c.614T>G (p.Phe205Cys)
c.389T>G (p.Phe130Cys)
c.556-63917T>G (n.556-63917T>G)
c.405T>G
c.*410T>G (n.*410T>G)
c.560T>G (p.Phe187Cys)
n.2T>G
n.259+2401A>C
c.581T>G (p.Phe194Cys)
c.470T>G (p.Phe157Cys)
c.505-63917T>G (n.505-63917T>G)
10g.74525366C>ACA377398056ADKc.666C>A (p.Phe222Leu)
c.615C>A (p.Phe205Leu)
c.390C>A (p.Phe130Leu)
c.556-63916C>A (n.556-63916C>A)
c.406C>A
c.*411C>A (n.*411C>A)
c.561C>A (p.Phe187Leu)
n.3C>A
n.259+2400G>T
c.582C>A (p.Phe194Leu)
c.471C>A (p.Phe157Leu)
c.505-63916C>A (n.505-63916C>A)
10g.74525366C=CA1920088411ADKc.666C= (p.Phe222=)
c.615C= (p.Phe205=)
c.390C= (p.Phe130=)
c.556-63916C= (n.556-63916C=)
c.406C=
c.*411C= (n.*411C=)
c.561C= (p.Phe187=)
n.3C=
n.259+2400G=
c.582C= (p.Phe194=)
c.471C= (p.Phe157=)
c.505-63916C= (n.505-63916C=)
10g.74525366C>GCA377398057ADKc.666C>G (p.Phe222Leu)
c.615C>G (p.Phe205Leu)
c.390C>G (p.Phe130Leu)
c.556-63916C>G (n.556-63916C>G)
c.406C>G
c.*411C>G (n.*411C>G)
c.561C>G (p.Phe187Leu)
n.3C>G
n.259+2400G>C
c.582C>G (p.Phe194Leu)
c.471C>G (p.Phe157Leu)
c.505-63916C>G (n.505-63916C>G)
gnomAD v4
10g.74525366C>TCA5564010ADKc.666C>T (p.Phe222=)
c.615C>T (p.Phe205=)
c.390C>T (p.Phe130=)
c.556-63916C>T (n.556-63916C>T)
c.406C>T
c.*411C>T (n.*411C>T)
c.561C>T (p.Phe187=)
n.3C>T
n.259+2400G>A
c.582C>T (p.Phe194=)
c.471C>T (p.Phe157=)
c.505-63916C>T (n.505-63916C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525367T>ACA377398058ADKc.667T>A (p.Tyr223Asn)
c.616T>A (p.Tyr206Asn)
c.391T>A (p.Tyr131Asn)
c.556-63915T>A (n.556-63915T>A)
c.407T>A
c.*412T>A (n.*412T>A)
c.562T>A (p.Tyr188Asn)
n.4T>A
n.259+2399A>T
c.583T>A (p.Tyr195Asn)
c.472T>A (p.Tyr158Asn)
c.505-63915T>A (n.505-63915T>A)
10g.74525367T>CCA377398059ADKc.667T>C (p.Tyr223His)
c.616T>C (p.Tyr206His)
c.391T>C (p.Tyr131His)
c.556-63915T>C (n.556-63915T>C)
c.407T>C
c.*412T>C (n.*412T>C)
c.562T>C (p.Tyr188His)
n.4T>C
n.259+2399A>G
c.583T>C (p.Tyr195His)
c.472T>C (p.Tyr158His)
c.505-63915T>C (n.505-63915T>C)
10g.74525367T>GCA377398060ADKc.667T>G (p.Tyr223Asp)
c.616T>G (p.Tyr206Asp)
c.391T>G (p.Tyr131Asp)
c.556-63915T>G (n.556-63915T>G)
c.407T>G
c.*412T>G (n.*412T>G)
c.562T>G (p.Tyr188Asp)
n.4T>G
n.259+2399A>C
c.583T>G (p.Tyr195Asp)
c.472T>G (p.Tyr158Asp)
c.505-63915T>G (n.505-63915T>G)
10g.74525368A=CA1920088413ADKc.668A= (p.Tyr223=)
c.617A= (p.Tyr206=)
c.392A= (p.Tyr131=)
c.556-63914A= (n.556-63914A=)
c.408A=
c.*413A= (n.*413A=)
c.563A= (p.Tyr188=)
n.5A=
n.259+2398T=
c.584A= (p.Tyr195=)
c.473A= (p.Tyr158=)
c.505-63914A= (n.505-63914A=)
10g.74525368A>CCA377398063ADKc.668A>C (p.Tyr223Ser)
c.617A>C (p.Tyr206Ser)
c.392A>C (p.Tyr131Ser)
c.556-63914A>C (n.556-63914A>C)
c.408A>C
c.*413A>C (n.*413A>C)
c.563A>C (p.Tyr188Ser)
n.5A>C
n.259+2398T>G
c.584A>C (p.Tyr195Ser)
c.473A>C (p.Tyr158Ser)
c.505-63914A>C (n.505-63914A>C)
10g.74525368A>GCA377398062ADKc.668A>G (p.Tyr223Cys)
c.617A>G (p.Tyr206Cys)
c.392A>G (p.Tyr131Cys)
c.556-63914A>G (n.556-63914A>G)
c.408A>G
c.*413A>G (n.*413A>G)
c.563A>G (p.Tyr188Cys)
n.5A>G
n.259+2398T>C
c.584A>G (p.Tyr195Cys)
c.473A>G (p.Tyr158Cys)
c.505-63914A>G (n.505-63914A>G)
dbSNP gnomAD v2 gnomAD v4
10g.74525368A>TCA377398061ADKc.668A>T (p.Tyr223Phe)
c.617A>T (p.Tyr206Phe)
c.392A>T (p.Tyr131Phe)
c.556-63914A>T (n.556-63914A>T)
c.408A>T
c.*413A>T (n.*413A>T)
c.563A>T (p.Tyr188Phe)
n.5A>T
n.259+2398T>A
c.584A>T (p.Tyr195Phe)
c.473A>T (p.Tyr158Phe)
c.505-63914A>T (n.505-63914A>T)
10g.74525369C>ACA377398064ADKc.669C>A (p.Tyr223Ter)
c.618C>A (p.Tyr206Ter)
c.393C>A (p.Tyr131Ter)
c.556-63913C>A (n.556-63913C>A)
c.409C>A
c.*414C>A (n.*414C>A)
c.564C>A (p.Tyr188Ter)
n.6C>A
n.259+2397G>T
c.585C>A (p.Tyr195Ter)
c.474C>A (p.Tyr158Ter)
c.505-63913C>A (n.505-63913C>A)
10g.74525369C>GCA377398065ADKc.669C>G (p.Tyr223Ter)
c.618C>G (p.Tyr206Ter)
c.393C>G (p.Tyr131Ter)
c.556-63913C>G (n.556-63913C>G)
c.409C>G
c.*414C>G (n.*414C>G)
c.564C>G (p.Tyr188Ter)
n.6C>G
n.259+2397G>C
c.585C>G (p.Tyr195Ter)
c.474C>G (p.Tyr158Ter)
c.505-63913C>G (n.505-63913C>G)
10g.74525369C>TCA470254838ADKc.669C>T (p.Tyr223=)
c.618C>T (p.Tyr206=)
c.393C>T (p.Tyr131=)
c.556-63913C>T (n.556-63913C>T)
c.409C>T
c.*414C>T (n.*414C>T)
c.564C>T (p.Tyr188=)
n.6C>T
n.259+2397G>A
c.585C>T (p.Tyr195=)
c.474C>T (p.Tyr158=)
c.505-63913C>T (n.505-63913C>T)
10g.74525370A>CCA377398066ADKc.670A>C (p.Lys224Gln)
c.619A>C (p.Lys207Gln)
c.394A>C (p.Lys132Gln)
c.556-63912A>C (n.556-63912A>C)
c.410A>C
c.*415A>C (n.*415A>C)
c.565A>C (p.Lys189Gln)
n.7A>C
n.259+2396T>G
c.586A>C (p.Lys196Gln)
c.475A>C (p.Lys159Gln)
c.505-63912A>C (n.505-63912A>C)
gnomAD v4
10g.74525370A>GCA377398067ADKc.670A>G (p.Lys224Glu)
c.619A>G (p.Lys207Glu)
c.394A>G (p.Lys132Glu)
c.556-63912A>G (n.556-63912A>G)
c.410A>G
c.*415A>G (n.*415A>G)
c.565A>G (p.Lys189Glu)
n.7A>G
n.259+2396T>C
c.586A>G (p.Lys196Glu)
c.475A>G (p.Lys159Glu)
c.505-63912A>G (n.505-63912A>G)
10g.74525370A>TCA377398068ADKc.670A>T (p.Lys224Ter)
c.619A>T (p.Lys207Ter)
c.394A>T (p.Lys132Ter)
c.556-63912A>T (n.556-63912A>T)
c.410A>T
c.*415A>T (n.*415A>T)
c.565A>T (p.Lys189Ter)
n.7A>T
n.259+2396T>A
c.586A>T (p.Lys196Ter)
c.475A>T (p.Lys159Ter)
c.505-63912A>T (n.505-63912A>T)
10g.74525371A>CCA377398069ADKc.671A>C (p.Lys224Thr)
c.620A>C (p.Lys207Thr)
c.395A>C (p.Lys132Thr)
c.556-63911A>C (n.556-63911A>C)
c.411A>C
c.*416A>C (n.*416A>C)
c.566A>C (p.Lys189Thr)
n.8A>C
n.259+2395T>G
c.587A>C (p.Lys196Thr)
c.476A>C (p.Lys159Thr)
c.505-63911A>C (n.505-63911A>C)
10g.74525371A>GCA377398070ADKc.671A>G (p.Lys224Arg)
c.620A>G (p.Lys207Arg)
c.395A>G (p.Lys132Arg)
c.556-63911A>G (n.556-63911A>G)
c.411A>G
c.*416A>G (n.*416A>G)
c.566A>G (p.Lys189Arg)
n.8A>G
n.259+2395T>C
c.587A>G (p.Lys196Arg)
c.476A>G (p.Lys159Arg)
c.505-63911A>G (n.505-63911A>G)
10g.74525371A>TCA377398071ADKc.671A>T (p.Lys224Met)
c.620A>T (p.Lys207Met)
c.395A>T (p.Lys132Met)
c.556-63911A>T (n.556-63911A>T)
c.411A>T
c.*416A>T (n.*416A>T)
c.566A>T (p.Lys189Met)
n.8A>T
n.259+2395T>A
c.587A>T (p.Lys196Met)
c.476A>T (p.Lys159Met)
c.505-63911A>T (n.505-63911A>T)
10g.74525372G>ACA470254839ADKc.672G>A (p.Lys224=)
c.621G>A (p.Lys207=)
c.396G>A (p.Lys132=)
c.556-63910G>A (n.556-63910G>A)
c.412G>A
c.*417G>A (n.*417G>A)
c.567G>A (p.Lys189=)
n.9G>A
n.259+2394C>T
c.588G>A (p.Lys196=)
c.477G>A (p.Lys159=)
c.505-63910G>A (n.505-63910G>A)
10g.74525372G>CCA377398072ADKc.672G>C (p.Lys224Asn)
c.621G>C (p.Lys207Asn)
c.396G>C (p.Lys132Asn)
c.556-63910G>C (n.556-63910G>C)
c.412G>C
c.*417G>C (n.*417G>C)
c.567G>C (p.Lys189Asn)
n.9G>C
n.259+2394C>G
c.588G>C (p.Lys196Asn)
c.477G>C (p.Lys159Asn)
c.505-63910G>C (n.505-63910G>C)
10g.74525372G>TCA377398073ADKc.672G>T (p.Lys224Asn)
c.621G>T (p.Lys207Asn)
c.396G>T (p.Lys132Asn)
c.556-63910G>T (n.556-63910G>T)
c.412G>T
c.*417G>T (n.*417G>T)
c.567G>T (p.Lys189Asn)
n.9G>T
n.259+2394C>A
c.588G>T (p.Lys196Asn)
c.477G>T (p.Lys159Asn)
c.505-63910G>T (n.505-63910G>T)
10g.74525373dupCA2609737828ADKc.673dup (p.Glu225GlyfsTer11)
c.622dup (p.Glu208GlyfsTer11)
c.397dup (p.Glu133GlyfsTer11)
c.556-63909dup (n.556-63909dup)
c.413dup
c.*418dup (n.*418dup)
c.568dup (p.Glu190GlyfsTer11)
n.10dup
n.259+2394dup
c.589dup (p.Glu197GlyfsTer11)
c.478dup (p.Glu160GlyfsTer11)
c.505-63909dup (n.505-63909dup)
gnomAD v4
10g.74525373G>ACA377398074ADKc.673G>A (p.Glu225Lys)
c.622G>A (p.Glu208Lys)
c.397G>A (p.Glu133Lys)
c.556-63909G>A (n.556-63909G>A)
c.413G>A
c.*418G>A (n.*418G>A)
c.568G>A (p.Glu190Lys)
n.10G>A
n.259+2393C>T
c.589G>A (p.Glu197Lys)
c.478G>A (p.Glu160Lys)
c.505-63909G>A (n.505-63909G>A)
10g.74525373G>CCA377398075ADKc.673G>C (p.Glu225Gln)
c.622G>C (p.Glu208Gln)
c.397G>C (p.Glu133Gln)
c.556-63909G>C (n.556-63909G>C)
c.413G>C
c.*418G>C (n.*418G>C)
c.568G>C (p.Glu190Gln)
n.10G>C
n.259+2393C>G
c.589G>C (p.Glu197Gln)
c.478G>C (p.Glu160Gln)
c.505-63909G>C (n.505-63909G>C)
dbSNP gnomAD v3 gnomAD v4
10g.74525373G=CA1920088416ADKc.673G= (p.Glu225=)
c.622G= (p.Glu208=)
c.397G= (p.Glu133=)
c.556-63909G= (n.556-63909G=)
c.413G=
c.*418G= (n.*418G=)
c.568G= (p.Glu190=)
n.10G=
n.259+2393C=
c.589G= (p.Glu197=)
c.478G= (p.Glu160=)
c.505-63909G= (n.505-63909G=)
10g.74525373G>TCA377398076ADKc.673G>T (p.Glu225Ter)
c.622G>T (p.Glu208Ter)
c.397G>T (p.Glu133Ter)
c.556-63909G>T (n.556-63909G>T)
c.413G>T
c.*418G>T (n.*418G>T)
c.568G>T (p.Glu190Ter)
n.10G>T
n.259+2393C>A
c.589G>T (p.Glu197Ter)
c.478G>T (p.Glu160Ter)
c.505-63909G>T (n.505-63909G>T)
gnomAD v4
10g.74525374A>CCA377398079ADKc.674A>C (p.Glu225Ala)
c.623A>C (p.Glu208Ala)
c.398A>C (p.Glu133Ala)
c.556-63908A>C (n.556-63908A>C)
c.414A>C
c.*419A>C (n.*419A>C)
c.569A>C (p.Glu190Ala)
n.11A>C
n.259+2392T>G
c.590A>C (p.Glu197Ala)
c.479A>C (p.Glu160Ala)
c.505-63908A>C (n.505-63908A>C)
10g.74525374A>GCA377398078ADKc.674A>G (p.Glu225Gly)
c.623A>G (p.Glu208Gly)
c.398A>G (p.Glu133Gly)
c.556-63908A>G (n.556-63908A>G)
c.414A>G
c.*419A>G (n.*419A>G)
c.569A>G (p.Glu190Gly)
n.11A>G
n.259+2392T>C
c.590A>G (p.Glu197Gly)
c.479A>G (p.Glu160Gly)
c.505-63908A>G (n.505-63908A>G)
10g.74525374A>TCA377398077ADKc.674A>T (p.Glu225Val)
c.623A>T (p.Glu208Val)
c.398A>T (p.Glu133Val)
c.556-63908A>T (n.556-63908A>T)
c.414A>T
c.*419A>T (n.*419A>T)
c.569A>T (p.Glu190Val)
n.11A>T
n.259+2392T>A
c.590A>T (p.Glu197Val)
c.479A>T (p.Glu160Val)
c.505-63908A>T (n.505-63908A>T)
10g.74525375A>CCA377398081ADKc.675A>C (p.Glu225Asp)
c.624A>C (p.Glu208Asp)
c.399A>C (p.Glu133Asp)
c.556-63907A>C (n.556-63907A>C)
c.415A>C
c.*420A>C (n.*420A>C)
c.570A>C (p.Glu190Asp)
n.12A>C
n.259+2391T>G
c.591A>C (p.Glu197Asp)
c.480A>C (p.Glu160Asp)
c.505-63907A>C (n.505-63907A>C)
10g.74525375A>GCA470254840ADKc.675A>G (p.Glu225=)
c.624A>G (p.Glu208=)
c.399A>G (p.Glu133=)
c.556-63907A>G (n.556-63907A>G)
c.415A>G
c.*420A>G (n.*420A>G)
c.570A>G (p.Glu190=)
n.12A>G
n.259+2391T>C
c.591A>G (p.Glu197=)
c.480A>G (p.Glu160=)
c.505-63907A>G (n.505-63907A>G)
10g.74525375A>TCA377398080ADKc.675A>T (p.Glu225Asp)
c.624A>T (p.Glu208Asp)
c.399A>T (p.Glu133Asp)
c.556-63907A>T (n.556-63907A>T)
c.415A>T
c.*420A>T (n.*420A>T)
c.570A>T (p.Glu190Asp)
n.12A>T
n.259+2391T>A
c.591A>T (p.Glu197Asp)
c.480A>T (p.Glu160Asp)
c.505-63907A>T (n.505-63907A>T)
10g.74525376T>ACA377398084ADKc.676T>A (p.Ser226Thr)
c.625T>A (p.Ser209Thr)
c.400T>A (p.Ser134Thr)
c.556-63906T>A (n.556-63906T>A)
c.416T>A
c.*421T>A (n.*421T>A)
c.571T>A (p.Ser191Thr)
n.13T>A
n.259+2390A>T
c.592T>A (p.Ser198Thr)
c.481T>A (p.Ser161Thr)
c.505-63906T>A (n.505-63906T>A)
10g.74525376T>CCA377398082ADKc.676T>C (p.Ser226Pro)
c.625T>C (p.Ser209Pro)
c.400T>C (p.Ser134Pro)
c.556-63906T>C (n.556-63906T>C)
c.416T>C
c.*421T>C (n.*421T>C)
c.571T>C (p.Ser191Pro)
n.13T>C
n.259+2390A>G
c.592T>C (p.Ser198Pro)
c.481T>C (p.Ser161Pro)
c.505-63906T>C (n.505-63906T>C)
10g.74525376T>GCA377398083ADKc.676T>G (p.Ser226Ala)
c.625T>G (p.Ser209Ala)
c.400T>G (p.Ser134Ala)
c.556-63906T>G (n.556-63906T>G)
c.416T>G
c.*421T>G (n.*421T>G)
c.571T>G (p.Ser191Ala)
n.13T>G
n.259+2390A>C
c.592T>G (p.Ser198Ala)
c.481T>G (p.Ser161Ala)
c.505-63906T>G (n.505-63906T>G)
10g.74525377C>ACA377398085ADKc.677C>A (p.Ser226Ter)
c.626C>A (p.Ser209Ter)
c.401C>A (p.Ser134Ter)
c.556-63905C>A (n.556-63905C>A)
c.417C>A
c.*422C>A (n.*422C>A)
c.572C>A (p.Ser191Ter)
n.14C>A
n.259+2389G>T
c.593C>A (p.Ser198Ter)
c.482C>A (p.Ser161Ter)
c.505-63905C>A (n.505-63905C>A)
10g.74525377C=CA1920088418ADKc.677C= (p.Ser226=)
c.626C= (p.Ser209=)
c.401C= (p.Ser134=)
c.556-63905C= (n.556-63905C=)
c.417C=
c.*422C= (n.*422C=)
c.572C= (p.Ser191=)
n.14C=
n.259+2389G=
c.593C= (p.Ser198=)
c.482C= (p.Ser161=)
c.505-63905C= (n.505-63905C=)
10g.74525377C>GCA377398086ADKc.677C>G (p.Ser226Ter)
c.626C>G (p.Ser209Ter)
c.401C>G (p.Ser134Ter)
c.556-63905C>G (n.556-63905C>G)
c.417C>G
c.*422C>G (n.*422C>G)
c.572C>G (p.Ser191Ter)
n.14C>G
n.259+2389G>C
c.593C>G (p.Ser198Ter)
c.482C>G (p.Ser161Ter)
c.505-63905C>G (n.505-63905C>G)
10g.74525377C>TCA377398087ADKc.677C>T (p.Ser226Leu)
c.626C>T (p.Ser209Leu)
c.401C>T (p.Ser134Leu)
c.556-63905C>T (n.556-63905C>T)
c.417C>T
c.*422C>T (n.*422C>T)
c.572C>T (p.Ser191Leu)
n.14C>T
n.259+2389G>A
c.593C>T (p.Ser198Leu)
c.482C>T (p.Ser161Leu)
c.505-63905C>T (n.505-63905C>T)
dbSNP gnomAD v2 gnomAD v4
10g.74525378A=CA1920088419ADKc.678A= (p.Ser226=)
c.627A= (p.Ser209=)
c.402A= (p.Ser134=)
c.556-63904A= (n.556-63904A=)
c.418A=
c.*423A= (n.*423A=)
c.573A= (p.Ser191=)
n.15A=
n.259+2388T=
c.594A= (p.Ser198=)
c.483A= (p.Ser161=)
c.505-63904A= (n.505-63904A=)
10g.74525378A>CCA470254841ADKc.678A>C (p.Ser226=)
c.627A>C (p.Ser209=)
c.402A>C (p.Ser134=)
c.556-63904A>C (n.556-63904A>C)
c.418A>C
c.*423A>C (n.*423A>C)
c.573A>C (p.Ser191=)
n.15A>C
n.259+2388T>G
c.594A>C (p.Ser198=)
c.483A>C (p.Ser161=)
c.505-63904A>C (n.505-63904A>C)
10g.74525378A>GCA5564011ADKc.678A>G (p.Ser226=)
c.627A>G (p.Ser209=)
c.402A>G (p.Ser134=)
c.556-63904A>G (n.556-63904A>G)
c.418A>G
c.*423A>G (n.*423A>G)
c.573A>G (p.Ser191=)
n.15A>G
n.259+2388T>C
c.594A>G (p.Ser198=)
c.483A>G (p.Ser161=)
c.505-63904A>G (n.505-63904A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.74525378A>TCA470254842ADKc.678A>T (p.Ser226=)
c.627A>T (p.Ser209=)
c.402A>T (p.Ser134=)
c.556-63904A>T (n.556-63904A>T)
c.418A>T
c.*423A>T (n.*423A>T)
c.573A>T (p.Ser191=)
n.15A>T
n.259+2388T>A
c.594A>T (p.Ser198=)
c.483A>T (p.Ser161=)
c.505-63904A>T (n.505-63904A>T)
10g.74525379T>ACA377398088ADKc.679T>A (p.Leu227Met)
c.628T>A (p.Leu210Met)
c.403T>A (p.Leu135Met)
c.556-63903T>A (n.556-63903T>A)
c.419T>A
c.*424T>A (n.*424T>A)
c.574T>A (p.Leu192Met)
n.16T>A
n.259+2387A>T
c.595T>A (p.Leu199Met)
c.484T>A (p.Leu162Met)
c.505-63903T>A (n.505-63903T>A)
10g.74525379T>CCA470254843ADKc.679T>C (p.Leu227=)
c.628T>C (p.Leu210=)
c.403T>C (p.Leu135=)
c.556-63903T>C (n.556-63903T>C)
c.419T>C
c.*424T>C (n.*424T>C)
c.574T>C (p.Leu192=)
n.16T>C
n.259+2387A>G
c.595T>C (p.Leu199=)
c.484T>C (p.Leu162=)
c.505-63903T>C (n.505-63903T>C)
ClinVar
10g.74525379T>GCA377398089ADKc.679T>G (p.Leu227Val)
c.628T>G (p.Leu210Val)
c.403T>G (p.Leu135Val)
c.556-63903T>G (n.556-63903T>G)
c.419T>G
c.*424T>G (n.*424T>G)
c.574T>G (p.Leu192Val)
n.16T>G
n.259+2387A>C
c.595T>G (p.Leu199Val)
c.484T>G (p.Leu162Val)
c.505-63903T>G (n.505-63903T>G)
10g.74525380T>ACA377398090ADKc.680T>A (p.Leu227Ter)
c.629T>A (p.Leu210Ter)
c.404T>A (p.Leu135Ter)
c.556-63902T>A (n.556-63902T>A)
c.420T>A
c.*425T>A (n.*425T>A)
c.575T>A (p.Leu192Ter)
n.17T>A
n.259+2386A>T
c.596T>A (p.Leu199Ter)
c.485T>A (p.Leu162Ter)
c.505-63902T>A (n.505-63902T>A)
10g.74525380T>CCA377398091ADKc.680T>C (p.Leu227Ser)
c.629T>C (p.Leu210Ser)
c.404T>C (p.Leu135Ser)
c.556-63902T>C (n.556-63902T>C)
c.420T>C
c.*425T>C (n.*425T>C)
c.575T>C (p.Leu192Ser)
n.17T>C
n.259+2386A>G
c.596T>C (p.Leu199Ser)
c.485T>C (p.Leu162Ser)
c.505-63902T>C (n.505-63902T>C)
10g.74525380T>GCA377398092ADKc.680T>G (p.Leu227Trp)
c.629T>G (p.Leu210Trp)
c.404T>G (p.Leu135Trp)
c.556-63902T>G (n.556-63902T>G)
c.420T>G
c.*425T>G (n.*425T>G)
c.575T>G (p.Leu192Trp)
n.17T>G
n.259+2386A>C
c.596T>G (p.Leu199Trp)
c.485T>G (p.Leu162Trp)
c.505-63902T>G (n.505-63902T>G)
10g.74525381G>ACA470254844ADKc.681G>A (p.Leu227=)
c.630G>A (p.Leu210=)
c.405G>A (p.Leu135=)
c.556-63901G>A (n.556-63901G>A)
c.421G>A
c.*426G>A (n.*426G>A)
c.576G>A (p.Leu192=)
n.18G>A
n.259+2385C>T
c.597G>A (p.Leu199=)
c.486G>A (p.Leu162=)
c.505-63901G>A (n.505-63901G>A)
gnomAD v4
10g.74525381G>CCA377398093ADKc.681G>C (p.Leu227Phe)
c.630G>C (p.Leu210Phe)
c.405G>C (p.Leu135Phe)
c.556-63901G>C (n.556-63901G>C)
c.421G>C
c.*426G>C (n.*426G>C)
c.576G>C (p.Leu192Phe)
n.18G>C
n.259+2385C>G
c.597G>C (p.Leu199Phe)
c.486G>C (p.Leu162Phe)
c.505-63901G>C (n.505-63901G>C)
10g.74525381G>TCA377398094ADKc.681G>T (p.Leu227Phe)
c.630G>T (p.Leu210Phe)
c.405G>T (p.Leu135Phe)
c.556-63901G>T (n.556-63901G>T)
c.421G>T
c.*426G>T (n.*426G>T)
c.576G>T (p.Leu192Phe)
n.18G>T
n.259+2385C>A
c.597G>T (p.Leu199Phe)
c.486G>T (p.Leu162Phe)
c.505-63901G>T (n.505-63901G>T)
10g.74525382A=CA1920088420ADKc.682A= (p.Met228=)
c.631A= (p.Met211=)
c.406A= (p.Met136=)
c.556-63900A= (n.556-63900A=)
c.422A=
c.*427A= (n.*427A=)
c.577A= (p.Met193=)
n.19A=
n.259+2384T=
c.598A= (p.Met200=)
c.487A= (p.Met163=)
c.505-63900A= (n.505-63900A=)
10g.74525382A>CCA377398097ADKc.682A>C (p.Met228Leu)
c.631A>C (p.Met211Leu)
c.406A>C (p.Met136Leu)
c.556-63900A>C (n.556-63900A>C)
c.422A>C
c.*427A>C (n.*427A>C)
c.577A>C (p.Met193Leu)
n.19A>C
n.259+2384T>G
c.598A>C (p.Met200Leu)
c.487A>C (p.Met163Leu)
c.505-63900A>C (n.505-63900A>C)
10g.74525382A>GCA377398095ADKc.682A>G (p.Met228Val)
c.631A>G (p.Met211Val)
c.406A>G (p.Met136Val)
c.556-63900A>G (n.556-63900A>G)
c.422A>G
c.*427A>G (n.*427A>G)
c.577A>G (p.Met193Val)
n.19A>G
n.259+2384T>C
c.598A>G (p.Met200Val)
c.487A>G (p.Met163Val)
c.505-63900A>G (n.505-63900A>G)
10g.74525382A>TCA377398096ADKc.682A>T (p.Met228Leu)
c.631A>T (p.Met211Leu)
c.406A>T (p.Met136Leu)
c.556-63900A>T (n.556-63900A>T)
c.422A>T
c.*427A>T (n.*427A>T)
c.577A>T (p.Met193Leu)
n.19A>T
n.259+2384T>A
c.598A>T (p.Met200Leu)
c.487A>T (p.Met163Leu)
c.505-63900A>T (n.505-63900A>T)
dbSNP gnomAD v4
10g.74525383T>ACA377398098ADKc.683T>A (p.Met228Lys)
c.632T>A (p.Met211Lys)
c.407T>A (p.Met136Lys)
c.556-63899T>A (n.556-63899T>A)
c.423T>A
c.*428T>A (n.*428T>A)
c.578T>A (p.Met193Lys)
n.20T>A
n.259+2383A>T
c.599T>A (p.Met200Lys)
c.488T>A (p.Met163Lys)
c.505-63899T>A (n.505-63899T>A)
dbSNP gnomAD v2
10g.74525383T>CCA209874924ADKc.683T>C (p.Met228Thr)
c.632T>C (p.Met211Thr)
c.407T>C (p.Met136Thr)
c.556-63899T>C (n.556-63899T>C)
c.423T>C
c.*428T>C (n.*428T>C)
c.578T>C (p.Met193Thr)
n.20T>C
n.259+2383A>G
c.599T>C (p.Met200Thr)
c.488T>C (p.Met163Thr)
c.505-63899T>C (n.505-63899T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.74525383T>GCA377398099ADKc.683T>G (p.Met228Arg)
c.632T>G (p.Met211Arg)
c.407T>G (p.Met136Arg)
c.556-63899T>G (n.556-63899T>G)
c.423T>G
c.*428T>G (n.*428T>G)
c.578T>G (p.Met193Arg)
n.20T>G
n.259+2383A>C
c.599T>G (p.Met200Arg)
c.488T>G (p.Met163Arg)
c.505-63899T>G (n.505-63899T>G)
10g.74525383T=CA1920088423ADKc.683T= (p.Met228=)
c.632T= (p.Met211=)
c.407T= (p.Met136=)
c.556-63899T= (n.556-63899T=)
c.423T=
c.*428T= (n.*428T=)
c.578T= (p.Met193=)
n.20T=
n.259+2383A=
c.599T= (p.Met200=)
c.488T= (p.Met163=)
c.505-63899T= (n.505-63899T=)
10g.74525384G>ACA377398100ADKc.684G>A (p.Met228Ile)
c.633G>A (p.Met211Ile)
c.408G>A (p.Met136Ile)
c.556-63898G>A (n.556-63898G>A)
c.424G>A
c.*429G>A (n.*429G>A)
c.579G>A (p.Met193Ile)
n.21G>A
n.259+2382C>T
c.600G>A (p.Met200Ile)
c.489G>A (p.Met163Ile)
c.505-63898G>A (n.505-63898G>A)
10g.74525384G>CCA377398101ADKc.684G>C (p.Met228Ile)
c.633G>C (p.Met211Ile)
c.408G>C (p.Met136Ile)
c.556-63898G>C (n.556-63898G>C)
c.424G>C
c.*429G>C (n.*429G>C)
c.579G>C (p.Met193Ile)
n.21G>C
n.259+2382C>G
c.600G>C (p.Met200Ile)
c.489G>C (p.Met163Ile)
c.505-63898G>C (n.505-63898G>C)
10g.74525384G>TCA377398102ADKc.684G>T (p.Met228Ile)
c.633G>T (p.Met211Ile)
c.408G>T (p.Met136Ile)
c.556-63898G>T (n.556-63898G>T)
c.424G>T
c.*429G>T (n.*429G>T)
c.579G>T (p.Met193Ile)
n.21G>T
n.259+2382C>A
c.600G>T (p.Met200Ile)
c.489G>T (p.Met163Ile)
c.505-63898G>T (n.505-63898G>T)
10g.74525385A=CA1920088426ADKc.685A= (p.Lys229=)
c.634A= (p.Lys212=)
c.409A= (p.Lys137=)
c.556-63897A= (n.556-63897A=)
c.425A=
c.*430A= (n.*430A=)
c.580A= (p.Lys194=)
n.22A=
n.259+2381T=
c.601A= (p.Lys201=)
c.490A= (p.Lys164=)
c.505-63897A= (n.505-63897A=)
10g.74525385A>CCA377398103ADKc.685A>C (p.Lys229Gln)
c.634A>C (p.Lys212Gln)
c.409A>C (p.Lys137Gln)
c.556-63897A>C (n.556-63897A>C)
c.425A>C
c.*430A>C (n.*430A>C)
c.580A>C (p.Lys194Gln)
n.22A>C
n.259+2381T>G
c.601A>C (p.Lys201Gln)
c.490A>C (p.Lys164Gln)
c.505-63897A>C (n.505-63897A>C)
10g.74525385A>GCA377398104ADKc.685A>G (p.Lys229Glu)
c.634A>G (p.Lys212Glu)
c.409A>G (p.Lys137Glu)
c.556-63897A>G (n.556-63897A>G)
c.425A>G
c.*430A>G (n.*430A>G)
c.580A>G (p.Lys194Glu)
n.22A>G
n.259+2381T>C
c.601A>G (p.Lys201Glu)
c.490A>G (p.Lys164Glu)
c.505-63897A>G (n.505-63897A>G)
10g.74525385A>TCA377398105ADKc.685A>T (p.Lys229Ter)
c.634A>T (p.Lys212Ter)
c.409A>T (p.Lys137Ter)
c.556-63897A>T (n.556-63897A>T)
c.425A>T
c.*430A>T (n.*430A>T)
c.580A>T (p.Lys194Ter)
n.22A>T
n.259+2381T>A
c.601A>T (p.Lys201Ter)
c.490A>T (p.Lys164Ter)
c.505-63897A>T (n.505-63897A>T)
dbSNP gnomAD v2 gnomAD v4
10g.74525386A=CA1920088429ADKc.686A= (p.Lys229=)
c.635A= (p.Lys212=)
c.410A= (p.Lys137=)
c.556-63896A= (n.556-63896A=)
c.426A=
c.*431A= (n.*431A=)
c.581A= (p.Lys194=)
n.23A=
n.259+2380T=
c.602A= (p.Lys201=)
c.491A= (p.Lys164=)
c.505-63896A= (n.505-63896A=)
10g.74525386A>CCA377398106ADKc.686A>C (p.Lys229Thr)
c.635A>C (p.Lys212Thr)
c.410A>C (p.Lys137Thr)
c.556-63896A>C (n.556-63896A>C)
c.426A>C
c.*431A>C (n.*431A>C)
c.581A>C (p.Lys194Thr)
n.23A>C
n.259+2380T>G
c.602A>C (p.Lys201Thr)
c.491A>C (p.Lys164Thr)
c.505-63896A>C (n.505-63896A>C)
dbSNP gnomAD v2 gnomAD v4
10g.74525386A>GCA377398107ADKc.686A>G (p.Lys229Arg)
c.635A>G (p.Lys212Arg)
c.410A>G (p.Lys137Arg)
c.556-63896A>G (n.556-63896A>G)
c.426A>G
c.*431A>G (n.*431A>G)
c.581A>G (p.Lys194Arg)
n.23A>G
n.259+2380T>C
c.602A>G (p.Lys201Arg)
c.491A>G (p.Lys164Arg)
c.505-63896A>G (n.505-63896A>G)
gnomAD v4
10g.74525386A>TCA377398108ADKc.686A>T (p.Lys229Ile)
c.635A>T (p.Lys212Ile)
c.410A>T (p.Lys137Ile)
c.556-63896A>T (n.556-63896A>T)
c.426A>T
c.*431A>T (n.*431A>T)
c.581A>T (p.Lys194Ile)
n.23A>T
n.259+2380T>A
c.602A>T (p.Lys201Ile)
c.491A>T (p.Lys164Ile)
c.505-63896A>T (n.505-63896A>T)
10g.74525387A>CCA377398109ADKc.687A>C (p.Lys229Asn)
c.636A>C (p.Lys212Asn)
c.411A>C (p.Lys137Asn)
c.556-63895A>C (n.556-63895A>C)
c.427A>C
c.*432A>C (n.*432A>C)
c.582A>C (p.Lys194Asn)
n.24A>C
n.259+2379T>G
c.603A>C (p.Lys201Asn)
c.492A>C (p.Lys164Asn)
c.505-63895A>C (n.505-63895A>C)
10g.74525387A>GCA470254845ADKc.687A>G (p.Lys229=)
c.636A>G (p.Lys212=)
c.411A>G (p.Lys137=)
c.556-63895A>G (n.556-63895A>G)
c.427A>G
c.*432A>G (n.*432A>G)
c.582A>G (p.Lys194=)
n.24A>G
n.259+2379T>C
c.603A>G (p.Lys201=)
c.492A>G (p.Lys164=)
c.505-63895A>G (n.505-63895A>G)
10g.74525387A>TCA377398110ADKc.687A>T (p.Lys229Asn)
c.636A>T (p.Lys212Asn)
c.411A>T (p.Lys137Asn)
c.556-63895A>T (n.556-63895A>T)
c.427A>T
c.*432A>T (n.*432A>T)
c.582A>T (p.Lys194Asn)
n.24A>T
n.259+2379T>A
c.603A>T (p.Lys201Asn)
c.492A>T (p.Lys164Asn)
c.505-63895A>T (n.505-63895A>T)
10g.74525388G>ACA5564012ADKc.688G>A (p.Val230Ile)
c.637G>A (p.Val213Ile)
c.412G>A (p.Val138Ile)
c.556-63894G>A (n.556-63894G>A)
c.428G>A
c.*433G>A (n.*433G>A)
c.583G>A (p.Val195Ile)
n.25G>A
n.259+2378C>T
c.604G>A (p.Val202Ile)
c.493G>A (p.Val165Ile)
c.505-63894G>A (n.505-63894G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525388G>CCA377398111ADKc.688G>C (p.Val230Leu)
c.637G>C (p.Val213Leu)
c.412G>C (p.Val138Leu)
c.556-63894G>C (n.556-63894G>C)
c.428G>C
c.*433G>C (n.*433G>C)
c.583G>C (p.Val195Leu)
n.25G>C
n.259+2378C>G
c.604G>C (p.Val202Leu)
c.493G>C (p.Val165Leu)
c.505-63894G>C (n.505-63894G>C)
10g.74525388G=CA1920088431ADKc.688G= (p.Val230=)
c.637G= (p.Val213=)
c.412G= (p.Val138=)
c.556-63894G= (n.556-63894G=)
c.428G=
c.*433G= (n.*433G=)
c.583G= (p.Val195=)
n.25G=
n.259+2378C=
c.604G= (p.Val202=)
c.493G= (p.Val165=)
c.505-63894G= (n.505-63894G=)
10g.74525388G>TCA377398112ADKc.688G>T (p.Val230Phe)
c.637G>T (p.Val213Phe)
c.412G>T (p.Val138Phe)
c.556-63894G>T (n.556-63894G>T)
c.428G>T
c.*433G>T (n.*433G>T)
c.583G>T (p.Val195Phe)
n.25G>T
n.259+2378C>A
c.604G>T (p.Val202Phe)
c.493G>T (p.Val165Phe)
c.505-63894G>T (n.505-63894G>T)
10g.74525389T>ACA377398113ADKc.689T>A (p.Val230Asp)
c.638T>A (p.Val213Asp)
c.413T>A (p.Val138Asp)
c.556-63893T>A (n.556-63893T>A)
c.429T>A
c.*434T>A (n.*434T>A)
c.584T>A (p.Val195Asp)
n.26T>A
n.259+2377A>T
c.605T>A (p.Val202Asp)
c.494T>A (p.Val165Asp)
c.505-63893T>A (n.505-63893T>A)
10g.74525389T>CCA377398114ADKc.689T>C (p.Val230Ala)
c.638T>C (p.Val213Ala)
c.413T>C (p.Val138Ala)
c.556-63893T>C (n.556-63893T>C)
c.429T>C
c.*434T>C (n.*434T>C)
c.584T>C (p.Val195Ala)
n.26T>C
n.259+2377A>G
c.605T>C (p.Val202Ala)
c.494T>C (p.Val165Ala)
c.505-63893T>C (n.505-63893T>C)
10g.74525389T>GCA377398115ADKc.689T>G (p.Val230Gly)
c.638T>G (p.Val213Gly)
c.413T>G (p.Val138Gly)
c.556-63893T>G (n.556-63893T>G)
c.429T>G
c.*434T>G (n.*434T>G)
c.584T>G (p.Val195Gly)
n.26T>G
n.259+2377A>C
c.605T>G (p.Val202Gly)
c.494T>G (p.Val165Gly)
c.505-63893T>G (n.505-63893T>G)
10g.74525390T>ACA470254846ADKc.690T>A (p.Val230=)
c.639T>A (p.Val213=)
c.414T>A (p.Val138=)
c.556-63892T>A (n.556-63892T>A)
c.430T>A
c.*435T>A (n.*435T>A)
c.585T>A (p.Val195=)
n.27T>A
n.259+2376A>T
c.606T>A (p.Val202=)
c.495T>A (p.Val165=)
c.505-63892T>A (n.505-63892T>A)
10g.74525390T>CCA470254848ADKc.690T>C (p.Val230=)
c.639T>C (p.Val213=)
c.414T>C (p.Val138=)
c.556-63892T>C (n.556-63892T>C)
c.430T>C
c.*435T>C (n.*435T>C)
c.585T>C (p.Val195=)
n.27T>C
n.259+2376A>G
c.606T>C (p.Val202=)
c.495T>C (p.Val165=)
c.505-63892T>C (n.505-63892T>C)
10g.74525390T>GCA470254847ADKc.690T>G (p.Val230=)
c.639T>G (p.Val213=)
c.414T>G (p.Val138=)
c.556-63892T>G (n.556-63892T>G)
c.430T>G
c.*435T>G (n.*435T>G)
c.585T>G (p.Val195=)
n.27T>G
n.259+2376A>C
c.606T>G (p.Val202=)
c.495T>G (p.Val165=)
c.505-63892T>G (n.505-63892T>G)
10g.74525391A>CCA377398116ADKc.691A>C (p.Met231Leu)
c.640A>C (p.Met214Leu)
c.415A>C (p.Met139Leu)
c.556-63891A>C (n.556-63891A>C)
c.431A>C
c.*436A>C (n.*436A>C)
c.586A>C (p.Met196Leu)
n.28A>C
n.259+2375T>G
c.607A>C (p.Met203Leu)
c.496A>C (p.Met166Leu)
c.505-63891A>C (n.505-63891A>C)
10g.74525391A>GCA377398117ADKc.691A>G (p.Met231Val)
c.640A>G (p.Met214Val)
c.415A>G (p.Met139Val)
c.556-63891A>G (n.556-63891A>G)
c.431A>G
c.*436A>G (n.*436A>G)
c.586A>G (p.Met196Val)
n.28A>G
n.259+2375T>C
c.607A>G (p.Met203Val)
c.496A>G (p.Met166Val)
c.505-63891A>G (n.505-63891A>G)
10g.74525391A>TCA377398118ADKc.691A>T (p.Met231Leu)
c.640A>T (p.Met214Leu)
c.415A>T (p.Met139Leu)
c.556-63891A>T (n.556-63891A>T)
c.431A>T
c.*436A>T (n.*436A>T)
c.586A>T (p.Met196Leu)
n.28A>T
n.259+2375T>A
c.607A>T (p.Met203Leu)
c.496A>T (p.Met166Leu)
c.505-63891A>T (n.505-63891A>T)
10g.74525392T>ACA377398119ADKc.692T>A (p.Met231Lys)
c.641T>A (p.Met214Lys)
c.416T>A (p.Met139Lys)
c.556-63890T>A (n.556-63890T>A)
c.432T>A
c.*437T>A (n.*437T>A)
c.587T>A (p.Met196Lys)
n.29T>A
n.259+2374A>T
c.608T>A (p.Met203Lys)
c.497T>A (p.Met166Lys)
c.505-63890T>A (n.505-63890T>A)
10g.74525392T>CCA377398120ADKc.692T>C (p.Met231Thr)
c.641T>C (p.Met214Thr)
c.416T>C (p.Met139Thr)
c.556-63890T>C (n.556-63890T>C)
c.432T>C
c.*437T>C (n.*437T>C)
c.587T>C (p.Met196Thr)
n.29T>C
n.259+2374A>G
c.608T>C (p.Met203Thr)
c.497T>C (p.Met166Thr)
c.505-63890T>C (n.505-63890T>C)
10g.74525392T>GCA377398121ADKc.692T>G (p.Met231Arg)
c.641T>G (p.Met214Arg)
c.416T>G (p.Met139Arg)
c.556-63890T>G (n.556-63890T>G)
c.432T>G
c.*437T>G (n.*437T>G)
c.587T>G (p.Met196Arg)
n.29T>G
n.259+2374A>C
c.608T>G (p.Met203Arg)
c.497T>G (p.Met166Arg)
c.505-63890T>G (n.505-63890T>G)
10g.74525393G>ACA377398123ADKc.693G>A (p.Met231Ile)
c.642G>A (p.Met214Ile)
c.417G>A (p.Met139Ile)
c.556-63889G>A (n.556-63889G>A)
c.433G>A
c.*438G>A (n.*438G>A)
c.588G>A (p.Met196Ile)
n.30G>A
n.259+2373C>T
c.609G>A (p.Met203Ile)
c.498G>A (p.Met166Ile)
c.505-63889G>A (n.505-63889G>A)
gnomAD v4
10g.74525393G>CCA377398124ADKc.693G>C (p.Met231Ile)
c.642G>C (p.Met214Ile)
c.417G>C (p.Met139Ile)
c.556-63889G>C (n.556-63889G>C)
c.433G>C
c.*438G>C (n.*438G>C)
c.588G>C (p.Met196Ile)
n.30G>C
n.259+2373C>G
c.609G>C (p.Met203Ile)
c.498G>C (p.Met166Ile)
c.505-63889G>C (n.505-63889G>C)
10g.74525393G>TCA377398122ADKc.693G>T (p.Met231Ile)
c.642G>T (p.Met214Ile)
c.417G>T (p.Met139Ile)
c.556-63889G>T (n.556-63889G>T)
c.433G>T
c.*438G>T (n.*438G>T)
c.588G>T (p.Met196Ile)
n.30G>T
n.259+2373C>A
c.609G>T (p.Met203Ile)
c.498G>T (p.Met166Ile)
c.505-63889G>T (n.505-63889G>T)
10g.74525394C>ACA377398125ADKc.694C>A (p.Pro232Thr)
c.643C>A (p.Pro215Thr)
c.418C>A (p.Pro140Thr)
c.556-63888C>A (n.556-63888C>A)
c.434C>A
c.*439C>A (n.*439C>A)
c.589C>A (p.Pro197Thr)
n.31C>A
n.259+2372G>T
c.610C>A (p.Pro204Thr)
c.499C>A (p.Pro167Thr)
c.505-63888C>A (n.505-63888C>A)
gnomAD v4
10g.74525394C>GCA377398126ADKc.694C>G (p.Pro232Ala)
c.643C>G (p.Pro215Ala)
c.418C>G (p.Pro140Ala)
c.556-63888C>G (n.556-63888C>G)
c.434C>G
c.*439C>G (n.*439C>G)
c.589C>G (p.Pro197Ala)
n.31C>G
n.259+2372G>C
c.610C>G (p.Pro204Ala)
c.499C>G (p.Pro167Ala)
c.505-63888C>G (n.505-63888C>G)
10g.74525394C>TCA377398127ADKc.694C>T (p.Pro232Ser)
c.643C>T (p.Pro215Ser)
c.418C>T (p.Pro140Ser)
c.556-63888C>T (n.556-63888C>T)
c.434C>T
c.*439C>T (n.*439C>T)
c.589C>T (p.Pro197Ser)
n.31C>T
n.259+2372G>A
c.610C>T (p.Pro204Ser)
c.499C>T (p.Pro167Ser)
c.505-63888C>T (n.505-63888C>T)
10g.74525395C>ACA377398128ADKc.695C>A (p.Pro232His)
c.644C>A (p.Pro215His)
c.419C>A (p.Pro140His)
c.556-63887C>A (n.556-63887C>A)
c.435C>A
c.*440C>A (n.*440C>A)
c.590C>A (p.Pro197His)
n.32C>A
n.259+2371G>T
c.611C>A (p.Pro204His)
c.500C>A (p.Pro167His)
c.505-63887C>A (n.505-63887C>A)
10g.74525395C=CA1920088437ADKc.695C= (p.Pro232=)
c.644C= (p.Pro215=)
c.419C= (p.Pro140=)
c.556-63887C= (n.556-63887C=)
c.435C=
c.*440C= (n.*440C=)
c.590C= (p.Pro197=)
n.32C=
n.259+2371G=
c.611C= (p.Pro204=)
c.500C= (p.Pro167=)
c.505-63887C= (n.505-63887C=)
10g.74525395C>GCA377398129ADKc.695C>G (p.Pro232Arg)
c.644C>G (p.Pro215Arg)
c.419C>G (p.Pro140Arg)
c.556-63887C>G (n.556-63887C>G)
c.435C>G
c.*440C>G (n.*440C>G)
c.590C>G (p.Pro197Arg)
n.32C>G
n.259+2371G>C
c.611C>G (p.Pro204Arg)
c.500C>G (p.Pro167Arg)
c.505-63887C>G (n.505-63887C>G)
10g.74525395C>TCA377398130ADKc.695C>T (p.Pro232Leu)
c.644C>T (p.Pro215Leu)
c.419C>T (p.Pro140Leu)
c.556-63887C>T (n.556-63887C>T)
c.435C>T
c.*440C>T (n.*440C>T)
c.590C>T (p.Pro197Leu)
n.32C>T
n.259+2371G>A
c.611C>T (p.Pro204Leu)
c.500C>T (p.Pro167Leu)
c.505-63887C>T (n.505-63887C>T)
dbSNP gnomAD v3 gnomAD v4
10g.74525396T>ACA470254849ADKc.696T>A (p.Pro232=)
c.645T>A (p.Pro215=)
c.420T>A (p.Pro140=)
c.556-63886T>A (n.556-63886T>A)
c.436T>A
c.*441T>A (n.*441T>A)
c.591T>A (p.Pro197=)
n.33T>A
n.259+2370A>T
c.612T>A (p.Pro204=)
c.501T>A (p.Pro167=)
c.505-63886T>A (n.505-63886T>A)
10g.74525396T>CCA470254850ADKc.696T>C (p.Pro232=)
c.645T>C (p.Pro215=)
c.420T>C (p.Pro140=)
c.556-63886T>C (n.556-63886T>C)
c.436T>C
c.*441T>C (n.*441T>C)
c.591T>C (p.Pro197=)
n.33T>C
n.259+2370A>G
c.612T>C (p.Pro204=)
c.501T>C (p.Pro167=)
c.505-63886T>C (n.505-63886T>C)
10g.74525396T>GCA470254851ADKc.696T>G (p.Pro232=)
c.645T>G (p.Pro215=)
c.420T>G (p.Pro140=)
c.556-63886T>G (n.556-63886T>G)
c.436T>G
c.*441T>G (n.*441T>G)
c.591T>G (p.Pro197=)
n.33T>G
n.259+2370A>C
c.612T>G (p.Pro204=)
c.501T>G (p.Pro167=)
c.505-63886T>G (n.505-63886T>G)
10g.74525397T>ACA377398131ADKc.697T>A (p.Tyr233Asn)
c.646T>A (p.Tyr216Asn)
c.421T>A (p.Tyr141Asn)
c.556-63885T>A (n.556-63885T>A)
c.437T>A
c.*442T>A (n.*442T>A)
c.592T>A (p.Tyr198Asn)
n.34T>A
n.259+2369A>T
c.613T>A (p.Tyr205Asn)
c.502T>A (p.Tyr168Asn)
c.505-63885T>A (n.505-63885T>A)
10g.74525397T>CCA377398133ADKc.697T>C (p.Tyr233His)
c.646T>C (p.Tyr216His)
c.421T>C (p.Tyr141His)
c.556-63885T>C (n.556-63885T>C)
c.437T>C
c.*442T>C (n.*442T>C)
c.592T>C (p.Tyr198His)
n.34T>C
n.259+2369A>G
c.613T>C (p.Tyr205His)
c.502T>C (p.Tyr168His)
c.505-63885T>C (n.505-63885T>C)
10g.74525397T>GCA377398132ADKc.697T>G (p.Tyr233Asp)
c.646T>G (p.Tyr216Asp)
c.421T>G (p.Tyr141Asp)
c.556-63885T>G (n.556-63885T>G)
c.437T>G
c.*442T>G (n.*442T>G)
c.592T>G (p.Tyr198Asp)
n.34T>G
n.259+2369A>C
c.613T>G (p.Tyr205Asp)
c.502T>G (p.Tyr168Asp)
c.505-63885T>G (n.505-63885T>G)
10g.74525398A=CA1920088441ADKc.698A= (p.Tyr233=)
c.647A= (p.Tyr216=)
c.422A= (p.Tyr141=)
c.556-63884A= (n.556-63884A=)
c.438A=
c.*443A= (n.*443A=)
c.593A= (p.Tyr198=)
n.35A=
n.259+2368T=
c.614A= (p.Tyr205=)
c.503A= (p.Tyr168=)
c.505-63884A= (n.505-63884A=)
10g.74525398A>CCA377398134ADKc.698A>C (p.Tyr233Ser)
c.647A>C (p.Tyr216Ser)
c.422A>C (p.Tyr141Ser)
c.556-63884A>C (n.556-63884A>C)
c.438A>C
c.*443A>C (n.*443A>C)
c.593A>C (p.Tyr198Ser)
n.35A>C
n.259+2368T>G
c.614A>C (p.Tyr205Ser)
c.503A>C (p.Tyr168Ser)
c.505-63884A>C (n.505-63884A>C)
10g.74525398A>GCA377398135ADKc.698A>G (p.Tyr233Cys)
c.647A>G (p.Tyr216Cys)
c.422A>G (p.Tyr141Cys)
c.556-63884A>G (n.556-63884A>G)
c.438A>G
c.*443A>G (n.*443A>G)
c.593A>G (p.Tyr198Cys)
n.35A>G
n.259+2368T>C
c.614A>G (p.Tyr205Cys)
c.503A>G (p.Tyr168Cys)
c.505-63884A>G (n.505-63884A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74525398A>TCA377398136ADKc.698A>T (p.Tyr233Phe)
c.647A>T (p.Tyr216Phe)
c.422A>T (p.Tyr141Phe)
c.556-63884A>T (n.556-63884A>T)
c.438A>T
c.*443A>T (n.*443A>T)
c.593A>T (p.Tyr198Phe)
n.35A>T
n.259+2368T>A
c.614A>T (p.Tyr205Phe)
c.503A>T (p.Tyr168Phe)
c.505-63884A>T (n.505-63884A>T)
10g.74525399T>ACA377398137ADKc.699T>A (p.Tyr233Ter)
c.648T>A (p.Tyr216Ter)
c.423T>A (p.Tyr141Ter)
c.556-63883T>A (n.556-63883T>A)
c.439T>A
c.*444T>A (n.*444T>A)
c.594T>A (p.Tyr198Ter)
n.36T>A
n.259+2367A>T
c.615T>A (p.Tyr205Ter)
c.504T>A (p.Tyr168Ter)
c.505-63883T>A (n.505-63883T>A)
10g.74525399T>CCA470254852ADKc.699T>C (p.Tyr233=)
c.648T>C (p.Tyr216=)
c.423T>C (p.Tyr141=)
c.556-63883T>C (n.556-63883T>C)
c.439T>C
c.*444T>C (n.*444T>C)
c.594T>C (p.Tyr198=)
n.36T>C
n.259+2367A>G
c.615T>C (p.Tyr205=)
c.504T>C (p.Tyr168=)
c.505-63883T>C (n.505-63883T>C)
dbSNP gnomAD v2 gnomAD v4
10g.74525399T>GCA377398138ADKc.699T>G (p.Tyr233Ter)
c.648T>G (p.Tyr216Ter)
c.423T>G (p.Tyr141Ter)
c.556-63883T>G (n.556-63883T>G)
c.439T>G
c.*444T>G (n.*444T>G)
c.594T>G (p.Tyr198Ter)
n.36T>G
n.259+2367A>C
c.615T>G (p.Tyr205Ter)
c.504T>G (p.Tyr168Ter)
c.505-63883T>G (n.505-63883T>G)
10g.74525399T=CA1920088442ADKc.699T= (p.Tyr233=)
c.648T= (p.Tyr216=)
c.423T= (p.Tyr141=)
c.556-63883T= (n.556-63883T=)
c.439T=
c.*444T= (n.*444T=)
c.594T= (p.Tyr198=)
n.36T=
n.259+2367A=
c.615T= (p.Tyr205=)
c.504T= (p.Tyr168=)
c.505-63883T= (n.505-63883T=)
10g.74525400G>ACA377398140ADKc.700G>A (p.Val234Ile)
c.649G>A (p.Val217Ile)
c.424G>A (p.Val142Ile)
c.556-63882G>A (n.556-63882G>A)
c.440G>A
c.*445G>A (n.*445G>A)
c.595G>A (p.Val199Ile)
n.37G>A
n.259+2366C>T
c.616G>A (p.Val206Ile)
c.505G>A (p.Val169Ile)
c.505-63882G>A (n.505-63882G>A)
dbSNP gnomAD v3 gnomAD v4
10g.74525400G>CCA377398141ADKc.700G>C (p.Val234Leu)
c.649G>C (p.Val217Leu)
c.424G>C (p.Val142Leu)
c.556-63882G>C (n.556-63882G>C)
c.440G>C
c.*445G>C (n.*445G>C)
c.595G>C (p.Val199Leu)
n.37G>C
n.259+2366C>G
c.616G>C (p.Val206Leu)
c.505G>C (p.Val169Leu)
c.505-63882G>C (n.505-63882G>C)
10g.74525400G=CA1920088444ADKc.700G= (p.Val234=)
c.649G= (p.Val217=)
c.424G= (p.Val142=)
c.556-63882G= (n.556-63882G=)
c.440G=
c.*445G= (n.*445G=)
c.595G= (p.Val199=)
n.37G=
n.259+2366C=
c.616G= (p.Val206=)
c.505G= (p.Val169=)
c.505-63882G= (n.505-63882G=)
10g.74525400G>TCA377398139ADKc.700G>T (p.Val234Phe)
c.649G>T (p.Val217Phe)
c.424G>T (p.Val142Phe)
c.556-63882G>T (n.556-63882G>T)
c.440G>T
c.*445G>T (n.*445G>T)
c.595G>T (p.Val199Phe)
n.37G>T
n.259+2366C>A
c.616G>T (p.Val206Phe)
c.505G>T (p.Val169Phe)
c.505-63882G>T (n.505-63882G>T)
10g.74525401T>ACA377398142ADKc.701T>A (p.Val234Asp)
c.650T>A (p.Val217Asp)
c.425T>A (p.Val142Asp)
c.556-63881T>A (n.556-63881T>A)
c.441T>A
c.*446T>A (n.*446T>A)
c.596T>A (p.Val199Asp)
n.38T>A
n.259+2365A>T
c.617T>A (p.Val206Asp)
c.506T>A (p.Val169Asp)
c.505-63881T>A (n.505-63881T>A)
10g.74525401T>CCA377398144ADKc.701T>C (p.Val234Ala)
c.650T>C (p.Val217Ala)
c.425T>C (p.Val142Ala)
c.556-63881T>C (n.556-63881T>C)
c.441T>C
c.*446T>C (n.*446T>C)
c.596T>C (p.Val199Ala)
n.38T>C
n.259+2365A>G
c.617T>C (p.Val206Ala)
c.506T>C (p.Val169Ala)
c.505-63881T>C (n.505-63881T>C)
10g.74525401T>GCA377398143ADKc.701T>G (p.Val234Gly)
c.650T>G (p.Val217Gly)
c.425T>G (p.Val142Gly)
c.556-63881T>G (n.556-63881T>G)
c.441T>G
c.*446T>G (n.*446T>G)
c.596T>G (p.Val199Gly)
n.38T>G
n.259+2365A>C
c.617T>G (p.Val206Gly)
c.506T>G (p.Val169Gly)
c.505-63881T>G (n.505-63881T>G)
10g.74525402T>ACA470254853ADKc.702T>A (p.Val234=)
c.651T>A (p.Val217=)
c.426T>A (p.Val142=)
c.556-63880T>A (n.556-63880T>A)
c.442T>A
c.*447T>A (n.*447T>A)
c.597T>A (p.Val199=)
n.39T>A
n.259+2364A>T
c.618T>A (p.Val206=)
c.507T>A (p.Val169=)
c.505-63880T>A (n.505-63880T>A)
10g.74525402T>CCA470254854ADKc.702T>C (p.Val234=)
c.651T>C (p.Val217=)
c.426T>C (p.Val142=)
c.556-63880T>C (n.556-63880T>C)
c.442T>C
c.*447T>C (n.*447T>C)
c.597T>C (p.Val199=)
n.39T>C
n.259+2364A>G
c.618T>C (p.Val206=)
c.507T>C (p.Val169=)
c.505-63880T>C (n.505-63880T>C)
10g.74525402T>GCA470254855ADKc.702T>G (p.Val234=)
c.651T>G (p.Val217=)
c.426T>G (p.Val142=)
c.556-63880T>G (n.556-63880T>G)
c.442T>G
c.*447T>G (n.*447T>G)
c.597T>G (p.Val199=)
n.39T>G
n.259+2364A>C
c.618T>G (p.Val206=)
c.507T>G (p.Val169=)
c.505-63880T>G (n.505-63880T>G)
10g.74525403G>ACA377398145ADKc.703G>A (p.Asp235Asn)
c.652G>A (p.Asp218Asn)
c.427G>A (p.Asp143Asn)
c.556-63879G>A (n.556-63879G>A)
c.443G>A
c.*448G>A (n.*448G>A)
c.598G>A (p.Asp200Asn)
n.40G>A
n.259+2363C>T
c.619G>A (p.Asp207Asn)
c.508G>A (p.Asp170Asn)
c.505-63879G>A (n.505-63879G>A)
10g.74525403G>CCA377398146ADKc.703G>C (p.Asp235His)
c.652G>C (p.Asp218His)
c.427G>C (p.Asp143His)
c.556-63879G>C (n.556-63879G>C)
c.443G>C
c.*448G>C (n.*448G>C)
c.598G>C (p.Asp200His)
n.40G>C
n.259+2363C>G
c.619G>C (p.Asp207His)
c.508G>C (p.Asp170His)
c.505-63879G>C (n.505-63879G>C)
10g.74525403G>TCA377398147ADKc.703G>T (p.Asp235Tyr)
c.652G>T (p.Asp218Tyr)
c.427G>T (p.Asp143Tyr)
c.556-63879G>T (n.556-63879G>T)
c.443G>T
c.*448G>T (n.*448G>T)
c.598G>T (p.Asp200Tyr)
n.40G>T
n.259+2363C>A
c.619G>T (p.Asp207Tyr)
c.508G>T (p.Asp170Tyr)
c.505-63879G>T (n.505-63879G>T)
10g.74525404A=CA1920088449ADKc.704A= (p.Asp235=)
c.653A= (p.Asp218=)
c.428A= (p.Asp143=)
c.556-63878A= (n.556-63878A=)
c.444A=
c.*449A= (n.*449A=)
c.599A= (p.Asp200=)
n.41A=
n.259+2362T=
c.620A= (p.Asp207=)
c.509A= (p.Asp170=)
c.505-63878A= (n.505-63878A=)
10g.74525404A>CCA249478ADKc.704A>C (p.Asp235Ala)
c.653A>C (p.Asp218Ala)
c.428A>C (p.Asp143Ala)
c.556-63878A>C (n.556-63878A>C)
c.444A>C
c.*449A>C (n.*449A>C)
c.599A>C (p.Asp200Ala)
n.41A>C
n.259+2362T>G
c.620A>C (p.Asp207Ala)
c.509A>C (p.Asp170Ala)
c.505-63878A>C (n.505-63878A>C)
ClinVar dbSNP
10g.74525404A>GCA377398148ADKc.704A>G (p.Asp235Gly)
c.653A>G (p.Asp218Gly)
c.428A>G (p.Asp143Gly)
c.556-63878A>G (n.556-63878A>G)
c.444A>G
c.*449A>G (n.*449A>G)
c.599A>G (p.Asp200Gly)
n.41A>G
n.259+2362T>C
c.620A>G (p.Asp207Gly)
c.509A>G (p.Asp170Gly)
c.505-63878A>G (n.505-63878A>G)
10g.74525404A>TCA377398149ADKc.704A>T (p.Asp235Val)
c.653A>T (p.Asp218Val)
c.428A>T (p.Asp143Val)
c.556-63878A>T (n.556-63878A>T)
c.444A>T
c.*449A>T (n.*449A>T)
c.599A>T (p.Asp200Val)
n.41A>T
n.259+2362T>A
c.620A>T (p.Asp207Val)
c.509A>T (p.Asp170Val)
c.505-63878A>T (n.505-63878A>T)
10g.74525405T>ACA377398150ADKc.705T>A (p.Asp235Glu)
c.654T>A (p.Asp218Glu)
c.429T>A (p.Asp143Glu)
c.556-63877T>A (n.556-63877T>A)
c.445T>A
c.*450T>A (n.*450T>A)
c.600T>A (p.Asp200Glu)
n.42T>A
n.259+2361A>T
c.621T>A (p.Asp207Glu)
c.510T>A (p.Asp170Glu)
c.505-63877T>A (n.505-63877T>A)
10g.74525405T>CCA5564013ADKc.705T>C (p.Asp235=)
c.654T>C (p.Asp218=)
c.429T>C (p.Asp143=)
c.556-63877T>C (n.556-63877T>C)
c.445T>C
c.*450T>C (n.*450T>C)
c.600T>C (p.Asp200=)
n.42T>C
n.259+2361A>G
c.621T>C (p.Asp207=)
c.510T>C (p.Asp170=)
c.505-63877T>C (n.505-63877T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525405T>GCA377398151ADKc.705T>G (p.Asp235Glu)
c.654T>G (p.Asp218Glu)
c.429T>G (p.Asp143Glu)
c.556-63877T>G (n.556-63877T>G)
c.445T>G
c.*450T>G (n.*450T>G)
c.600T>G (p.Asp200Glu)
n.42T>G
n.259+2361A>C
c.621T>G (p.Asp207Glu)
c.510T>G (p.Asp170Glu)
c.505-63877T>G (n.505-63877T>G)
10g.74525405T=CA1920088455ADKc.705T= (p.Asp235=)
c.654T= (p.Asp218=)
c.429T= (p.Asp143=)
c.556-63877T= (n.556-63877T=)
c.445T=
c.*450T= (n.*450T=)
c.600T= (p.Asp200=)
n.42T=
n.259+2361A=
c.621T= (p.Asp207=)
c.510T= (p.Asp170=)
c.505-63877T= (n.505-63877T=)
10g.74525406A>CCA377398152ADKc.706A>C (p.Ile236Leu)
c.655A>C (p.Ile219Leu)
c.430A>C (p.Ile144Leu)
c.556-63876A>C (n.556-63876A>C)
c.446A>C
c.*451A>C (n.*451A>C)
c.601A>C (p.Ile201Leu)
n.43A>C
n.259+2360T>G
c.622A>C (p.Ile208Leu)
c.511A>C (p.Ile171Leu)
c.505-63876A>C (n.505-63876A>C)
10g.74525406A>GCA377398153ADKc.706A>G (p.Ile236Val)
c.655A>G (p.Ile219Val)
c.430A>G (p.Ile144Val)
c.556-63876A>G (n.556-63876A>G)
c.446A>G
c.*451A>G (n.*451A>G)
c.601A>G (p.Ile201Val)
n.43A>G
n.259+2360T>C
c.622A>G (p.Ile208Val)
c.511A>G (p.Ile171Val)
c.505-63876A>G (n.505-63876A>G)
gnomAD v4
10g.74525406A>TCA377398154ADKc.706A>T (p.Ile236Leu)
c.655A>T (p.Ile219Leu)
c.430A>T (p.Ile144Leu)
c.556-63876A>T (n.556-63876A>T)
c.446A>T
c.*451A>T (n.*451A>T)
c.601A>T (p.Ile201Leu)
n.43A>T
n.259+2360T>A
c.622A>T (p.Ile208Leu)
c.511A>T (p.Ile171Leu)
c.505-63876A>T (n.505-63876A>T)
10g.74525407T>ACA377398156ADKc.707T>A (p.Ile236Lys)
c.656T>A (p.Ile219Lys)
c.431T>A (p.Ile144Lys)
c.556-63875T>A (n.556-63875T>A)
c.447T>A
c.*452T>A (n.*452T>A)
c.602T>A (p.Ile201Lys)
n.44T>A
n.259+2359A>T
c.623T>A (p.Ile208Lys)
c.512T>A (p.Ile171Lys)
c.505-63875T>A (n.505-63875T>A)
10g.74525407T>CCA5564014ADKc.707T>C (p.Ile236Thr)
c.656T>C (p.Ile219Thr)
c.431T>C (p.Ile144Thr)
c.556-63875T>C (n.556-63875T>C)
c.447T>C
c.*452T>C (n.*452T>C)
c.602T>C (p.Ile201Thr)
n.44T>C
n.259+2359A>G
c.623T>C (p.Ile208Thr)
c.512T>C (p.Ile171Thr)
c.505-63875T>C (n.505-63875T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74525407T>GCA377398155ADKc.707T>G (p.Ile236Arg)
c.656T>G (p.Ile219Arg)
c.431T>G (p.Ile144Arg)
c.556-63875T>G (n.556-63875T>G)
c.447T>G
c.*452T>G (n.*452T>G)
c.602T>G (p.Ile201Arg)
n.44T>G
n.259+2359A>C
c.623T>G (p.Ile208Arg)
c.512T>G (p.Ile171Arg)
c.505-63875T>G (n.505-63875T>G)
10g.74525407T=CA1920088459ADKc.707T= (p.Ile236=)
c.656T= (p.Ile219=)
c.431T= (p.Ile144=)
c.556-63875T= (n.556-63875T=)
c.447T=
c.*452T= (n.*452T=)
c.602T= (p.Ile201=)
n.44T=
n.259+2359A=
c.623T= (p.Ile208=)
c.512T= (p.Ile171=)
c.505-63875T= (n.505-63875T=)
10g.74525408A>CCA470254856ADKc.708A>C (p.Ile236=)
c.657A>C (p.Ile219=)
c.432A>C (p.Ile144=)
c.556-63874A>C (n.556-63874A>C)
c.448A>C
c.*453A>C (n.*453A>C)
c.603A>C (p.Ile201=)
n.45A>C
n.259+2358T>G
c.624A>C (p.Ile208=)
c.513A>C (p.Ile171=)
c.505-63874A>C (n.505-63874A>C)
10g.74525408A>GCA377398157ADKc.708A>G (p.Ile236Met)
c.657A>G (p.Ile219Met)
c.432A>G (p.Ile144Met)
c.556-63874A>G (n.556-63874A>G)
c.448A>G
c.*453A>G (n.*453A>G)
c.603A>G (p.Ile201Met)
n.45A>G
n.259+2358T>C
c.624A>G (p.Ile208Met)
c.513A>G (p.Ile171Met)
c.505-63874A>G (n.505-63874A>G)
gnomAD v4
10g.74525408A>TCA470254857ADKc.708A>T (p.Ile236=)
c.657A>T (p.Ile219=)
c.432A>T (p.Ile144=)
c.556-63874A>T (n.556-63874A>T)
c.448A>T
c.*453A>T (n.*453A>T)
c.603A>T (p.Ile201=)
n.45A>T
n.259+2358T>A
c.624A>T (p.Ile208=)
c.513A>T (p.Ile171=)
c.505-63874A>T (n.505-63874A>T)
10g.74525409C>ACA377398158ADKc.709C>A (p.Leu237Ile)
c.658C>A (p.Leu220Ile)
c.433C>A (p.Leu145Ile)
c.556-63873C>A (n.556-63873C>A)
c.449C>A
c.*454C>A (n.*454C>A)
c.604C>A (p.Leu202Ile)
n.46C>A
n.259+2357G>T
c.625C>A (p.Leu209Ile)
c.514C>A (p.Leu172Ile)
c.505-63873C>A (n.505-63873C>A)
10g.74525409C>GCA377398159ADKc.709C>G (p.Leu237Val)
c.658C>G (p.Leu220Val)
c.433C>G (p.Leu145Val)
c.556-63873C>G (n.556-63873C>G)
c.449C>G
c.*454C>G (n.*454C>G)
c.604C>G (p.Leu202Val)
n.46C>G
n.259+2357G>C
c.625C>G (p.Leu209Val)
c.514C>G (p.Leu172Val)
c.505-63873C>G (n.505-63873C>G)
gnomAD v4
10g.74525409C>TCA377398160ADKc.709C>T (p.Leu237Phe)
c.658C>T (p.Leu220Phe)
c.433C>T (p.Leu145Phe)
c.556-63873C>T (n.556-63873C>T)
c.449C>T
c.*454C>T (n.*454C>T)
c.604C>T (p.Leu202Phe)
n.46C>T
n.259+2357G>A
c.625C>T (p.Leu209Phe)
c.514C>T (p.Leu172Phe)
c.505-63873C>T (n.505-63873C>T)
gnomAD v4
10g.74525410T>ACA377398161ADKc.710T>A (p.Leu237His)
c.659T>A (p.Leu220His)
c.434T>A (p.Leu145His)
c.556-63872T>A (n.556-63872T>A)
c.450T>A
c.*455T>A (n.*455T>A)
c.605T>A (p.Leu202His)
n.47T>A
n.259+2356A>T
c.626T>A (p.Leu209His)
c.515T>A (p.Leu172His)
c.505-63872T>A (n.505-63872T>A)
10g.74525410T>CCA377398162ADKc.710T>C (p.Leu237Pro)
c.659T>C (p.Leu220Pro)
c.434T>C (p.Leu145Pro)
c.556-63872T>C (n.556-63872T>C)
c.450T>C
c.*455T>C (n.*455T>C)
c.605T>C (p.Leu202Pro)
n.47T>C
n.259+2356A>G
c.626T>C (p.Leu209Pro)
c.515T>C (p.Leu172Pro)
c.505-63872T>C (n.505-63872T>C)
10g.74525410T>GCA377398163ADKc.710T>G (p.Leu237Arg)
c.659T>G (p.Leu220Arg)
c.434T>G (p.Leu145Arg)
c.556-63872T>G (n.556-63872T>G)
c.450T>G
c.*455T>G (n.*455T>G)
c.605T>G (p.Leu202Arg)
n.47T>G
n.259+2356A>C
c.626T>G (p.Leu209Arg)
c.515T>G (p.Leu172Arg)
c.505-63872T>G (n.505-63872T>G)
10g.74525414delCA2574586163ADKc.714del (p.Phe238LeufsTer24)
c.663del (p.Phe221LeufsTer24)
c.438del (p.Phe146LeufsTer24)
c.556-63868del (n.556-63868del)
c.454del
c.*459del (n.*459del)
c.609del (p.Phe203LeufsTer24)
c.663del (p.Phe221LeufsTer?)
c.714del (p.Phe238LeufsTer19)
n.51del
n.259+2356del
c.630del (p.Phe210LeufsTer24)
c.519del (p.Phe173LeufsTer24)
c.505-63868del (n.505-63868del)
c.663del (p.Phe221LeufsTer19)
c.714del (p.Phe238LeufsTer?)

Number of alleles fetched