Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38725206dupCA2665099632SCN10Ac.3198dup (p.Asp1067ArgfsTer2)
c.3195dup (p.Asp1066ArgfsTer2)
c.3222dup (p.Asp1075ArgfsTer2)
c.2904dup (p.Asp969ArgfsTer2)
c.3207dup (p.Asp1070ArgfsTer2)
c.3204dup (p.Asp1069ArgfsTer2)
c.2913dup (p.Asp972ArgfsTer2)
gnomAD v4
3g.38725206T>ACA352156642SCN10Ac.3196A>T (p.Lys1066Ter)
c.3193A>T (p.Lys1065Ter)
c.3220A>T (p.Lys1074Ter)
c.2902A>T (p.Lys968Ter)
c.3205A>T (p.Lys1069Ter)
c.3202A>T (p.Lys1068Ter)
c.2911A>T (p.Lys971Ter)
3g.38725206T>CCA352156643SCN10Ac.3196A>G (p.Lys1066Glu)
c.3193A>G (p.Lys1065Glu)
c.3220A>G (p.Lys1074Glu)
c.2902A>G (p.Lys968Glu)
c.3205A>G (p.Lys1069Glu)
c.3202A>G (p.Lys1068Glu)
c.2911A>G (p.Lys971Glu)
3g.38725206T>GCA352156644SCN10Ac.3196A>C (p.Lys1066Gln)
c.3193A>C (p.Lys1065Gln)
c.3220A>C (p.Lys1074Gln)
c.2902A>C (p.Lys968Gln)
c.3205A>C (p.Lys1069Gln)
c.3202A>C (p.Lys1068Gln)
c.2911A>C (p.Lys971Gln)
3g.38725207C>ACA352156645SCN10Ac.3195G>T (p.Trp1065Cys)
c.3192G>T (p.Trp1064Cys)
c.3219G>T (p.Trp1073Cys)
c.2901G>T (p.Trp967Cys)
c.3204G>T (p.Trp1068Cys)
c.3201G>T (p.Trp1067Cys)
c.2910G>T (p.Trp970Cys)
3g.38725207C>GCA352156646SCN10Ac.3195G>C (p.Trp1065Cys)
c.3192G>C (p.Trp1064Cys)
c.3219G>C (p.Trp1073Cys)
c.2901G>C (p.Trp967Cys)
c.3204G>C (p.Trp1068Cys)
c.3201G>C (p.Trp1067Cys)
c.2910G>C (p.Trp970Cys)
3g.38725207C>TCA352156647SCN10Ac.3195G>A (p.Trp1065Ter)
c.3192G>A (p.Trp1064Ter)
c.3219G>A (p.Trp1073Ter)
c.2901G>A (p.Trp967Ter)
c.3204G>A (p.Trp1068Ter)
c.3201G>A (p.Trp1067Ter)
c.2910G>A (p.Trp970Ter)
3g.38725208delCA2665099633SCN10Ac.3195del (p.Trp1065Ter)
c.3192del (p.Trp1064Ter)
c.3219del (p.Trp1073Ter)
c.2901del (p.Trp967Ter)
c.3204del (p.Trp1068Ter)
c.3201del (p.Trp1067Ter)
c.2910del (p.Trp970Ter)
gnomAD v4
3g.38725208C>ACA352156650SCN10Ac.3194G>T (p.Trp1065Leu)
c.3191G>T (p.Trp1064Leu)
c.3218G>T (p.Trp1073Leu)
c.2900G>T (p.Trp967Leu)
c.3203G>T (p.Trp1068Leu)
c.3200G>T (p.Trp1067Leu)
c.2909G>T (p.Trp970Leu)
3g.38725208C=CA1358640560SCN10Ac.3194G= (p.Trp1065=)
c.3191G= (p.Trp1064=)
c.3218G= (p.Trp1073=)
c.2900G= (p.Trp967=)
c.3203G= (p.Trp1068=)
c.3200G= (p.Trp1067=)
c.2909G= (p.Trp970=)
3g.38725208C>GCA352156649SCN10Ac.3194G>C (p.Trp1065Ser)
c.3191G>C (p.Trp1064Ser)
c.3218G>C (p.Trp1073Ser)
c.2900G>C (p.Trp967Ser)
c.3203G>C (p.Trp1068Ser)
c.3200G>C (p.Trp1067Ser)
c.2909G>C (p.Trp970Ser)
3g.38725208C>TCA352156648SCN10Ac.3194G>A (p.Trp1065Ter)
c.3191G>A (p.Trp1064Ter)
c.3218G>A (p.Trp1073Ter)
c.2900G>A (p.Trp967Ter)
c.3203G>A (p.Trp1068Ter)
c.3200G>A (p.Trp1067Ter)
c.2909G>A (p.Trp970Ter)
dbSNP
3g.38725209A>CCA352156651SCN10Ac.3193T>G (p.Trp1065Gly)
c.3190T>G (p.Trp1064Gly)
c.3217T>G (p.Trp1073Gly)
c.2899T>G (p.Trp967Gly)
c.3202T>G (p.Trp1068Gly)
c.3199T>G (p.Trp1067Gly)
c.2908T>G (p.Trp970Gly)
COSMIC
3g.38725209A>GCA352156652SCN10Ac.3193T>C (p.Trp1065Arg)
c.3190T>C (p.Trp1064Arg)
c.3217T>C (p.Trp1073Arg)
c.2899T>C (p.Trp967Arg)
c.3202T>C (p.Trp1068Arg)
c.3199T>C (p.Trp1067Arg)
c.2908T>C (p.Trp970Arg)
gnomAD v4
3g.38725209A>TCA352156653SCN10Ac.3193T>A (p.Trp1065Arg)
c.3190T>A (p.Trp1064Arg)
c.3217T>A (p.Trp1073Arg)
c.2899T>A (p.Trp967Arg)
c.3202T>A (p.Trp1068Arg)
c.3199T>A (p.Trp1067Arg)
c.2908T>A (p.Trp970Arg)
3g.38725210C>ACA433138484SCN10Ac.3192G>T (p.Thr1064=)
c.3189G>T (p.Thr1063=)
c.3216G>T (p.Thr1072=)
c.2898G>T (p.Thr966=)
c.3201G>T (p.Thr1067=)
c.3198G>T (p.Thr1066=)
c.2907G>T (p.Thr969=)
3g.38725210C=CA1358640561SCN10Ac.3192G= (p.Thr1064=)
c.3189G= (p.Thr1063=)
c.3216G= (p.Thr1072=)
c.2898G= (p.Thr966=)
c.3201G= (p.Thr1067=)
c.3198G= (p.Thr1066=)
c.2907G= (p.Thr969=)
3g.38725210C>GCA433138485SCN10Ac.3192G>C (p.Thr1064=)
c.3189G>C (p.Thr1063=)
c.3216G>C (p.Thr1072=)
c.2898G>C (p.Thr966=)
c.3201G>C (p.Thr1067=)
c.3198G>C (p.Thr1066=)
c.2907G>C (p.Thr969=)
dbSNP gnomAD v4
3g.38725210C>TCA2320324SCN10Ac.3192G>A (p.Thr1064=)
c.3189G>A (p.Thr1063=)
c.3216G>A (p.Thr1072=)
c.2898G>A (p.Thr966=)
c.3201G>A (p.Thr1067=)
c.3198G>A (p.Thr1066=)
c.2907G>A (p.Thr969=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725211G>ACA2320325SCN10Ac.3191C>T (p.Thr1064Met)
c.3188C>T (p.Thr1063Met)
c.3215C>T (p.Thr1072Met)
c.2897C>T (p.Thr966Met)
c.3200C>T (p.Thr1067Met)
c.3197C>T (p.Thr1066Met)
c.2906C>T (p.Thr969Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725211G>CCA352156654SCN10Ac.3191C>G (p.Thr1064Arg)
c.3188C>G (p.Thr1063Arg)
c.3215C>G (p.Thr1072Arg)
c.2897C>G (p.Thr966Arg)
c.3200C>G (p.Thr1067Arg)
c.3197C>G (p.Thr1066Arg)
c.2906C>G (p.Thr969Arg)
gnomAD v4
3g.38725211G=CA1358640562SCN10Ac.3191C= (p.Thr1064=)
c.3188C= (p.Thr1063=)
c.3215C= (p.Thr1072=)
c.2897C= (p.Thr966=)
c.3200C= (p.Thr1067=)
c.3197C= (p.Thr1066=)
c.2906C= (p.Thr969=)
3g.38725211G>TCA352156655SCN10Ac.3191C>A (p.Thr1064Lys)
c.3188C>A (p.Thr1063Lys)
c.3215C>A (p.Thr1072Lys)
c.2897C>A (p.Thr966Lys)
c.3200C>A (p.Thr1067Lys)
c.3197C>A (p.Thr1066Lys)
c.2906C>A (p.Thr969Lys)
dbSNP gnomAD v4 COSMIC
3g.38725212T>ACA352156658SCN10Ac.3190A>T (p.Thr1064Ser)
c.3187A>T (p.Thr1063Ser)
c.3214A>T (p.Thr1072Ser)
c.2896A>T (p.Thr966Ser)
c.3199A>T (p.Thr1067Ser)
c.3196A>T (p.Thr1066Ser)
c.2905A>T (p.Thr969Ser)
3g.38725212T>CCA352156656SCN10Ac.3190A>G (p.Thr1064Ala)
c.3187A>G (p.Thr1063Ala)
c.3214A>G (p.Thr1072Ala)
c.2896A>G (p.Thr966Ala)
c.3199A>G (p.Thr1067Ala)
c.3196A>G (p.Thr1066Ala)
c.2905A>G (p.Thr969Ala)
3g.38725212T>GCA352156657SCN10Ac.3190A>C (p.Thr1064Pro)
c.3187A>C (p.Thr1063Pro)
c.3214A>C (p.Thr1072Pro)
c.2896A>C (p.Thr966Pro)
c.3199A>C (p.Thr1067Pro)
c.3196A>C (p.Thr1066Pro)
c.2905A>C (p.Thr969Pro)
3g.38725213C>ACA352156659SCN10Ac.3189G>T (p.Glu1063Asp)
c.3186G>T (p.Glu1062Asp)
c.3213G>T (p.Glu1071Asp)
c.2895G>T (p.Glu965Asp)
c.3198G>T (p.Glu1066Asp)
c.3195G>T (p.Glu1065Asp)
c.2904G>T (p.Glu968Asp)
3g.38725213C>GCA352156660SCN10Ac.3189G>C (p.Glu1063Asp)
c.3186G>C (p.Glu1062Asp)
c.3213G>C (p.Glu1071Asp)
c.2895G>C (p.Glu965Asp)
c.3198G>C (p.Glu1066Asp)
c.3195G>C (p.Glu1065Asp)
c.2904G>C (p.Glu968Asp)
3g.38725213C>TCA433138486SCN10Ac.3189G>A (p.Glu1063=)
c.3186G>A (p.Glu1062=)
c.3213G>A (p.Glu1071=)
c.2895G>A (p.Glu965=)
c.3198G>A (p.Glu1066=)
c.3195G>A (p.Glu1065=)
c.2904G>A (p.Glu968=)
gnomAD v4
3g.38725214T>ACA2320326SCN10Ac.3188A>T (p.Glu1063Val)
c.3185A>T (p.Glu1062Val)
c.3212A>T (p.Glu1071Val)
c.2894A>T (p.Glu965Val)
c.3197A>T (p.Glu1066Val)
c.3194A>T (p.Glu1065Val)
c.2903A>T (p.Glu968Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725214T>CCA352156661SCN10Ac.3188A>G (p.Glu1063Gly)
c.3185A>G (p.Glu1062Gly)
c.3212A>G (p.Glu1071Gly)
c.2894A>G (p.Glu965Gly)
c.3197A>G (p.Glu1066Gly)
c.3194A>G (p.Glu1065Gly)
c.2903A>G (p.Glu968Gly)
3g.38725214T>GCA352156662SCN10Ac.3188A>C (p.Glu1063Ala)
c.3185A>C (p.Glu1062Ala)
c.3212A>C (p.Glu1071Ala)
c.2894A>C (p.Glu965Ala)
c.3197A>C (p.Glu1066Ala)
c.3194A>C (p.Glu1065Ala)
c.2903A>C (p.Glu968Ala)
3g.38725214T=CA1358640563SCN10Ac.3188A= (p.Glu1063=)
c.3185A= (p.Glu1062=)
c.3212A= (p.Glu1071=)
c.2894A= (p.Glu965=)
c.3197A= (p.Glu1066=)
c.3194A= (p.Glu1065=)
c.2903A= (p.Glu968=)
3g.38725215C>ACA352156663SCN10Ac.3187G>T (p.Glu1063Ter)
c.3184G>T (p.Glu1062Ter)
c.3211G>T (p.Glu1071Ter)
c.2893G>T (p.Glu965Ter)
c.3196G>T (p.Glu1066Ter)
c.3193G>T (p.Glu1065Ter)
c.2902G>T (p.Glu968Ter)
3g.38725215C=CA1358640564SCN10Ac.3187G= (p.Glu1063=)
c.3184G= (p.Glu1062=)
c.3211G= (p.Glu1071=)
c.2893G= (p.Glu965=)
c.3196G= (p.Glu1066=)
c.3193G= (p.Glu1065=)
c.2902G= (p.Glu968=)
3g.38725215C>GCA352156664SCN10Ac.3187G>C (p.Glu1063Gln)
c.3184G>C (p.Glu1062Gln)
c.3211G>C (p.Glu1071Gln)
c.2893G>C (p.Glu965Gln)
c.3196G>C (p.Glu1066Gln)
c.3193G>C (p.Glu1065Gln)
c.2902G>C (p.Glu968Gln)
3g.38725215C>TCA2320327SCN10Ac.3187G>A (p.Glu1063Lys)
c.3184G>A (p.Glu1062Lys)
c.3211G>A (p.Glu1071Lys)
c.2893G>A (p.Glu965Lys)
c.3196G>A (p.Glu1066Lys)
c.3193G>A (p.Glu1065Lys)
c.2902G>A (p.Glu968Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725216A>CCA433138487SCN10Ac.3186T>G (p.Gly1062=)
c.3183T>G (p.Gly1061=)
c.3210T>G (p.Gly1070=)
c.2892T>G (p.Gly964=)
c.3195T>G (p.Gly1065=)
c.3192T>G (p.Gly1064=)
c.2901T>G (p.Gly967=)
3g.38725216A>GCA433138488SCN10Ac.3186T>C (p.Gly1062=)
c.3183T>C (p.Gly1061=)
c.3210T>C (p.Gly1070=)
c.2892T>C (p.Gly964=)
c.3195T>C (p.Gly1065=)
c.3192T>C (p.Gly1064=)
c.2901T>C (p.Gly967=)
3g.38725216A>TCA433138489SCN10Ac.3186T>A (p.Gly1062=)
c.3183T>A (p.Gly1061=)
c.3210T>A (p.Gly1070=)
c.2892T>A (p.Gly964=)
c.3195T>A (p.Gly1065=)
c.3192T>A (p.Gly1064=)
c.2901T>A (p.Gly967=)
3g.38725217C>ACA352156665SCN10Ac.3185G>T (p.Gly1062Val)
c.3182G>T (p.Gly1061Val)
c.3209G>T (p.Gly1070Val)
c.2891G>T (p.Gly964Val)
c.3194G>T (p.Gly1065Val)
c.3191G>T (p.Gly1064Val)
c.2900G>T (p.Gly967Val)
3g.38725217C>GCA352156666SCN10Ac.3185G>C (p.Gly1062Ala)
c.3182G>C (p.Gly1061Ala)
c.3209G>C (p.Gly1070Ala)
c.2891G>C (p.Gly964Ala)
c.3194G>C (p.Gly1065Ala)
c.3191G>C (p.Gly1064Ala)
c.2900G>C (p.Gly967Ala)
3g.38725217C>TCA352156667SCN10Ac.3185G>A (p.Gly1062Asp)
c.3182G>A (p.Gly1061Asp)
c.3209G>A (p.Gly1070Asp)
c.2891G>A (p.Gly964Asp)
c.3194G>A (p.Gly1065Asp)
c.3191G>A (p.Gly1064Asp)
c.2900G>A (p.Gly967Asp)
gnomAD v4
3g.38725218C>ACA2320328SCN10Ac.3184G>T (p.Gly1062Cys)
c.3181G>T (p.Gly1061Cys)
c.3208G>T (p.Gly1070Cys)
c.2890G>T (p.Gly964Cys)
c.3193G>T (p.Gly1065Cys)
c.3190G>T (p.Gly1064Cys)
c.2899G>T (p.Gly967Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725218C=CA1358640565SCN10Ac.3184G= (p.Gly1062=)
c.3181G= (p.Gly1061=)
c.3208G= (p.Gly1070=)
c.2890G= (p.Gly964=)
c.3193G= (p.Gly1065=)
c.3190G= (p.Gly1064=)
c.2899G= (p.Gly967=)
3g.38725218C>GCA352156668SCN10Ac.3184G>C (p.Gly1062Arg)
c.3181G>C (p.Gly1061Arg)
c.3208G>C (p.Gly1070Arg)
c.2890G>C (p.Gly964Arg)
c.3193G>C (p.Gly1065Arg)
c.3190G>C (p.Gly1064Arg)
c.2899G>C (p.Gly967Arg)
3g.38725218C>TCA2320329SCN10Ac.3184G>A (p.Gly1062Ser)
c.3181G>A (p.Gly1061Ser)
c.3208G>A (p.Gly1070Ser)
c.2890G>A (p.Gly964Ser)
c.3193G>A (p.Gly1065Ser)
c.3190G>A (p.Gly1064Ser)
c.2899G>A (p.Gly967Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725219C>ACA433138490SCN10Ac.3183G>T (p.Leu1061=)
c.3180G>T (p.Leu1060=)
c.3207G>T (p.Leu1069=)
c.2889G>T (p.Leu963=)
c.3192G>T (p.Leu1064=)
c.3189G>T (p.Leu1063=)
c.2898G>T (p.Leu966=)
3g.38725219C>GCA433138491SCN10Ac.3183G>C (p.Leu1061=)
c.3180G>C (p.Leu1060=)
c.3207G>C (p.Leu1069=)
c.2889G>C (p.Leu963=)
c.3192G>C (p.Leu1064=)
c.3189G>C (p.Leu1063=)
c.2898G>C (p.Leu966=)
gnomAD v4
3g.38725219C>TCA433138492SCN10Ac.3183G>A (p.Leu1061=)
c.3180G>A (p.Leu1060=)
c.3207G>A (p.Leu1069=)
c.2889G>A (p.Leu963=)
c.3192G>A (p.Leu1064=)
c.3189G>A (p.Leu1063=)
c.2898G>A (p.Leu966=)
3g.38725220A>CCA352156669SCN10Ac.3182T>G (p.Leu1061Arg)
c.3179T>G (p.Leu1060Arg)
c.3206T>G (p.Leu1069Arg)
c.2888T>G (p.Leu963Arg)
c.3191T>G (p.Leu1064Arg)
c.3188T>G (p.Leu1063Arg)
c.2897T>G (p.Leu966Arg)
3g.38725220A>GCA352156670SCN10Ac.3182T>C (p.Leu1061Pro)
c.3179T>C (p.Leu1060Pro)
c.3206T>C (p.Leu1069Pro)
c.2888T>C (p.Leu963Pro)
c.3191T>C (p.Leu1064Pro)
c.3188T>C (p.Leu1063Pro)
c.2897T>C (p.Leu966Pro)
gnomAD v4
3g.38725220A>TCA352156671SCN10Ac.3182T>A (p.Leu1061Gln)
c.3179T>A (p.Leu1060Gln)
c.3206T>A (p.Leu1069Gln)
c.2888T>A (p.Leu963Gln)
c.3191T>A (p.Leu1064Gln)
c.3188T>A (p.Leu1063Gln)
c.2897T>A (p.Leu966Gln)
3g.38725221G>ACA433138493SCN10Ac.3181C>T (p.Leu1061=)
c.3178C>T (p.Leu1060=)
c.3205C>T (p.Leu1069=)
c.2887C>T (p.Leu963=)
c.3190C>T (p.Leu1064=)
c.3187C>T (p.Leu1063=)
c.2896C>T (p.Leu966=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725221G>CCA2320330SCN10Ac.3181C>G (p.Leu1061Val)
c.3178C>G (p.Leu1060Val)
c.3205C>G (p.Leu1069Val)
c.2887C>G (p.Leu963Val)
c.3190C>G (p.Leu1064Val)
c.3187C>G (p.Leu1063Val)
c.2896C>G (p.Leu966Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725221G=CA1358640566SCN10Ac.3181C= (p.Leu1061=)
c.3178C= (p.Leu1060=)
c.3205C= (p.Leu1069=)
c.2887C= (p.Leu963=)
c.3190C= (p.Leu1064=)
c.3187C= (p.Leu1063=)
c.2896C= (p.Leu966=)
3g.38725221G>TCA352156672SCN10Ac.3181C>A (p.Leu1061Met)
c.3178C>A (p.Leu1060Met)
c.3205C>A (p.Leu1069Met)
c.2887C>A (p.Leu963Met)
c.3190C>A (p.Leu1064Met)
c.3187C>A (p.Leu1063Met)
c.2896C>A (p.Leu966Met)
gnomAD v4
3g.38725222G>ACA433138494SCN10Ac.3180C>T (p.Ser1060=)
c.3177C>T (p.Ser1059=)
c.3204C>T (p.Ser1068=)
c.2886C>T (p.Ser962=)
c.3189C>T (p.Ser1063=)
c.3186C>T (p.Ser1062=)
c.2895C>T (p.Ser965=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725222G>CCA433138495SCN10Ac.3180C>G (p.Ser1060=)
c.3177C>G (p.Ser1059=)
c.3204C>G (p.Ser1068=)
c.2886C>G (p.Ser962=)
c.3189C>G (p.Ser1063=)
c.3186C>G (p.Ser1062=)
c.2895C>G (p.Ser965=)
3g.38725222G=CA1358640567SCN10Ac.3180C= (p.Ser1060=)
c.3177C= (p.Ser1059=)
c.3204C= (p.Ser1068=)
c.2886C= (p.Ser962=)
c.3189C= (p.Ser1063=)
c.3186C= (p.Ser1062=)
c.2895C= (p.Ser965=)
3g.38725222G>TCA433138496SCN10Ac.3180C>A (p.Ser1060=)
c.3177C>A (p.Ser1059=)
c.3204C>A (p.Ser1068=)
c.2886C>A (p.Ser962=)
c.3189C>A (p.Ser1063=)
c.3186C>A (p.Ser1062=)
c.2895C>A (p.Ser965=)
3g.38725223G>ACA352156675SCN10Ac.3179C>T (p.Ser1060Phe)
c.3176C>T (p.Ser1059Phe)
c.3203C>T (p.Ser1068Phe)
c.2885C>T (p.Ser962Phe)
c.3188C>T (p.Ser1063Phe)
c.3185C>T (p.Ser1062Phe)
c.2894C>T (p.Ser965Phe)
dbSNP
3g.38725223G>CCA352156673SCN10Ac.3179C>G (p.Ser1060Cys)
c.3176C>G (p.Ser1059Cys)
c.3203C>G (p.Ser1068Cys)
c.2885C>G (p.Ser962Cys)
c.3188C>G (p.Ser1063Cys)
c.3185C>G (p.Ser1062Cys)
c.2894C>G (p.Ser965Cys)
3g.38725223G=CA1358640568SCN10Ac.3179C= (p.Ser1060=)
c.3176C= (p.Ser1059=)
c.3203C= (p.Ser1068=)
c.2885C= (p.Ser962=)
c.3188C= (p.Ser1063=)
c.3185C= (p.Ser1062=)
c.2894C= (p.Ser965=)
3g.38725223G>TCA352156674SCN10Ac.3179C>A (p.Ser1060Tyr)
c.3176C>A (p.Ser1059Tyr)
c.3203C>A (p.Ser1068Tyr)
c.2885C>A (p.Ser962Tyr)
c.3188C>A (p.Ser1063Tyr)
c.3185C>A (p.Ser1062Tyr)
c.2894C>A (p.Ser965Tyr)
3g.38725224A=CA1358640569SCN10Ac.3178T= (p.Ser1060=)
c.3175T= (p.Ser1059=)
c.3202T= (p.Ser1068=)
c.2884T= (p.Ser962=)
c.3187T= (p.Ser1063=)
c.3184T= (p.Ser1062=)
c.2893T= (p.Ser965=)
3g.38725224A>CCA2320331SCN10Ac.3178T>G (p.Ser1060Ala)
c.3175T>G (p.Ser1059Ala)
c.3202T>G (p.Ser1068Ala)
c.2884T>G (p.Ser962Ala)
c.3187T>G (p.Ser1063Ala)
c.3184T>G (p.Ser1062Ala)
c.2893T>G (p.Ser965Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725224A>GCA352156677SCN10Ac.3178T>C (p.Ser1060Pro)
c.3175T>C (p.Ser1059Pro)
c.3202T>C (p.Ser1068Pro)
c.2884T>C (p.Ser962Pro)
c.3187T>C (p.Ser1063Pro)
c.3184T>C (p.Ser1062Pro)
c.2893T>C (p.Ser965Pro)
3g.38725224A>TCA352156676SCN10Ac.3178T>A (p.Ser1060Thr)
c.3175T>A (p.Ser1059Thr)
c.3202T>A (p.Ser1068Thr)
c.2884T>A (p.Ser962Thr)
c.3187T>A (p.Ser1063Thr)
c.3184T>A (p.Ser1062Thr)
c.2893T>A (p.Ser965Thr)
3g.38725225T>ACA433138497SCN10Ac.3177A>T (p.Pro1059=)
c.3174A>T (p.Pro1058=)
c.3201A>T (p.Pro1067=)
c.2883A>T (p.Pro961=)
c.3186A>T (p.Pro1062=)
c.3183A>T (p.Pro1061=)
c.2892A>T (p.Pro964=)
3g.38725225T>CCA433138498SCN10Ac.3177A>G (p.Pro1059=)
c.3174A>G (p.Pro1058=)
c.3201A>G (p.Pro1067=)
c.2883A>G (p.Pro961=)
c.3186A>G (p.Pro1062=)
c.3183A>G (p.Pro1061=)
c.2892A>G (p.Pro964=)
3g.38725225T>GCA433138499SCN10Ac.3177A>C (p.Pro1059=)
c.3174A>C (p.Pro1058=)
c.3201A>C (p.Pro1067=)
c.2883A>C (p.Pro961=)
c.3186A>C (p.Pro1062=)
c.3183A>C (p.Pro1061=)
c.2892A>C (p.Pro964=)
3g.38725226G>ACA352156678SCN10Ac.3176C>T (p.Pro1059Leu)
c.3173C>T (p.Pro1058Leu)
c.3200C>T (p.Pro1067Leu)
c.2882C>T (p.Pro961Leu)
c.3185C>T (p.Pro1062Leu)
c.3182C>T (p.Pro1061Leu)
c.2891C>T (p.Pro964Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38725226G>CCA352156679SCN10Ac.3176C>G (p.Pro1059Arg)
c.3173C>G (p.Pro1058Arg)
c.3200C>G (p.Pro1067Arg)
c.2882C>G (p.Pro961Arg)
c.3185C>G (p.Pro1062Arg)
c.3182C>G (p.Pro1061Arg)
c.2891C>G (p.Pro964Arg)
3g.38725226G=CA1358640570SCN10Ac.3176C= (p.Pro1059=)
c.3173C= (p.Pro1058=)
c.3200C= (p.Pro1067=)
c.2882C= (p.Pro961=)
c.3185C= (p.Pro1062=)
c.3182C= (p.Pro1061=)
c.2891C= (p.Pro964=)
3g.38725226G>TCA352156680SCN10Ac.3176C>A (p.Pro1059Gln)
c.3173C>A (p.Pro1058Gln)
c.3200C>A (p.Pro1067Gln)
c.2882C>A (p.Pro961Gln)
c.3185C>A (p.Pro1062Gln)
c.3182C>A (p.Pro1061Gln)
c.2891C>A (p.Pro964Gln)
3g.38725227G>ACA352156681SCN10Ac.3175C>T (p.Pro1059Ser)
c.3172C>T (p.Pro1058Ser)
c.3199C>T (p.Pro1067Ser)
c.2881C>T (p.Pro961Ser)
c.3184C>T (p.Pro1062Ser)
c.3181C>T (p.Pro1061Ser)
c.2890C>T (p.Pro964Ser)
3g.38725227G>CCA352156682SCN10Ac.3175C>G (p.Pro1059Ala)
c.3172C>G (p.Pro1058Ala)
c.3199C>G (p.Pro1067Ala)
c.2881C>G (p.Pro961Ala)
c.3184C>G (p.Pro1062Ala)
c.3181C>G (p.Pro1061Ala)
c.2890C>G (p.Pro964Ala)
dbSNP gnomAD v2 gnomAD v4
3g.38725227G=CA1358640571SCN10Ac.3175C= (p.Pro1059=)
c.3172C= (p.Pro1058=)
c.3199C= (p.Pro1067=)
c.2881C= (p.Pro961=)
c.3184C= (p.Pro1062=)
c.3181C= (p.Pro1061=)
c.2890C= (p.Pro964=)
3g.38725227G>TCA352156683SCN10Ac.3175C>A (p.Pro1059Thr)
c.3172C>A (p.Pro1058Thr)
c.3199C>A (p.Pro1067Thr)
c.2881C>A (p.Pro961Thr)
c.3184C>A (p.Pro1062Thr)
c.3181C>A (p.Pro1061Thr)
c.2890C>A (p.Pro964Thr)
3g.38725228A=CA1358640572SCN10Ac.3174T= (p.Ala1058=)
c.3171T= (p.Ala1057=)
c.3198T= (p.Ala1066=)
c.2880T= (p.Ala960=)
c.3183T= (p.Ala1061=)
c.3180T= (p.Ala1060=)
c.2889T= (p.Ala963=)
3g.38725228A>CCA433138500SCN10Ac.3174T>G (p.Ala1058=)
c.3171T>G (p.Ala1057=)
c.3198T>G (p.Ala1066=)
c.2880T>G (p.Ala960=)
c.3183T>G (p.Ala1061=)
c.3180T>G (p.Ala1060=)
c.2889T>G (p.Ala963=)
3g.38725228A>GCA2320332SCN10Ac.3174T>C (p.Ala1058=)
c.3171T>C (p.Ala1057=)
c.3198T>C (p.Ala1066=)
c.2880T>C (p.Ala960=)
c.3183T>C (p.Ala1061=)
c.3180T>C (p.Ala1060=)
c.2889T>C (p.Ala963=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725228A>TCA72959574SCN10Ac.3174T>A (p.Ala1058=)
c.3171T>A (p.Ala1057=)
c.3198T>A (p.Ala1066=)
c.2880T>A (p.Ala960=)
c.3183T>A (p.Ala1061=)
c.3180T>A (p.Ala1060=)
c.2889T>A (p.Ala963=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725229G>ACA2320333SCN10Ac.3173C>T (p.Ala1058Val)
c.3170C>T (p.Ala1057Val)
c.3197C>T (p.Ala1066Val)
c.2879C>T (p.Ala960Val)
c.3182C>T (p.Ala1061Val)
c.3179C>T (p.Ala1060Val)
c.2888C>T (p.Ala963Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725229G>CCA352156684SCN10Ac.3173C>G (p.Ala1058Gly)
c.3170C>G (p.Ala1057Gly)
c.3197C>G (p.Ala1066Gly)
c.2879C>G (p.Ala960Gly)
c.3182C>G (p.Ala1061Gly)
c.3179C>G (p.Ala1060Gly)
c.2888C>G (p.Ala963Gly)
3g.38725229G=CA1358640573SCN10Ac.3173C= (p.Ala1058=)
c.3170C= (p.Ala1057=)
c.3197C= (p.Ala1066=)
c.2879C= (p.Ala960=)
c.3182C= (p.Ala1061=)
c.3179C= (p.Ala1060=)
c.2888C= (p.Ala963=)
3g.38725229G>TCA352156685SCN10Ac.3173C>A (p.Ala1058Asp)
c.3170C>A (p.Ala1057Asp)
c.3197C>A (p.Ala1066Asp)
c.2879C>A (p.Ala960Asp)
c.3182C>A (p.Ala1061Asp)
c.3179C>A (p.Ala1060Asp)
c.2888C>A (p.Ala963Asp)
gnomAD v4
3g.38725230C>ACA352156688SCN10Ac.3172G>T (p.Ala1058Ser)
c.3169G>T (p.Ala1057Ser)
c.3196G>T (p.Ala1066Ser)
c.2878G>T (p.Ala960Ser)
c.3181G>T (p.Ala1061Ser)
c.3178G>T (p.Ala1060Ser)
c.2887G>T (p.Ala963Ser)
3g.38725230C>GCA352156687SCN10Ac.3172G>C (p.Ala1058Pro)
c.3169G>C (p.Ala1057Pro)
c.3196G>C (p.Ala1066Pro)
c.2878G>C (p.Ala960Pro)
c.3181G>C (p.Ala1061Pro)
c.3178G>C (p.Ala1060Pro)
c.2887G>C (p.Ala963Pro)
3g.38725230C>TCA352156686SCN10Ac.3172G>A (p.Ala1058Thr)
c.3169G>A (p.Ala1057Thr)
c.3196G>A (p.Ala1066Thr)
c.2878G>A (p.Ala960Thr)
c.3181G>A (p.Ala1061Thr)
c.3178G>A (p.Ala1060Thr)
c.2887G>A (p.Ala963Thr)
gnomAD v4
3g.38725231C>ACA433138503SCN10Ac.3171G>T (p.Leu1057=)
c.3168G>T (p.Leu1056=)
c.3195G>T (p.Leu1065=)
c.2877G>T (p.Leu959=)
c.3180G>T (p.Leu1060=)
c.3177G>T (p.Leu1059=)
c.2886G>T (p.Leu962=)
3g.38725231C>GCA433138502SCN10Ac.3171G>C (p.Leu1057=)
c.3168G>C (p.Leu1056=)
c.3195G>C (p.Leu1065=)
c.2877G>C (p.Leu959=)
c.3180G>C (p.Leu1060=)
c.3177G>C (p.Leu1059=)
c.2886G>C (p.Leu962=)
3g.38725231C>TCA433138501SCN10Ac.3171G>A (p.Leu1057=)
c.3168G>A (p.Leu1056=)
c.3195G>A (p.Leu1065=)
c.2877G>A (p.Leu959=)
c.3180G>A (p.Leu1060=)
c.3177G>A (p.Leu1059=)
c.2886G>A (p.Leu962=)
3g.38725232A=CA1358640574SCN10Ac.3170T= (p.Leu1057=)
c.3167T= (p.Leu1056=)
c.3194T= (p.Leu1065=)
c.2876T= (p.Leu959=)
c.3179T= (p.Leu1060=)
c.3176T= (p.Leu1059=)
c.2885T= (p.Leu962=)
3g.38725232A>CCA352156689SCN10Ac.3170T>G (p.Leu1057Arg)
c.3167T>G (p.Leu1056Arg)
c.3194T>G (p.Leu1065Arg)
c.2876T>G (p.Leu959Arg)
c.3179T>G (p.Leu1060Arg)
c.3176T>G (p.Leu1059Arg)
c.2885T>G (p.Leu962Arg)
ClinVar dbSNP
3g.38725232A>GCA352156690SCN10Ac.3170T>C (p.Leu1057Pro)
c.3167T>C (p.Leu1056Pro)
c.3194T>C (p.Leu1065Pro)
c.2876T>C (p.Leu959Pro)
c.3179T>C (p.Leu1060Pro)
c.3176T>C (p.Leu1059Pro)
c.2885T>C (p.Leu962Pro)
gnomAD v4 COSMIC
3g.38725232A>TCA352156691SCN10Ac.3170T>A (p.Leu1057Gln)
c.3167T>A (p.Leu1056Gln)
c.3194T>A (p.Leu1065Gln)
c.2876T>A (p.Leu959Gln)
c.3179T>A (p.Leu1060Gln)
c.3176T>A (p.Leu1059Gln)
c.2885T>A (p.Leu962Gln)
3g.38725233G>ACA433138504SCN10Ac.3169C>T (p.Leu1057=)
c.3166C>T (p.Leu1056=)
c.3193C>T (p.Leu1065=)
c.2875C>T (p.Leu959=)
c.3178C>T (p.Leu1060=)
c.3175C>T (p.Leu1059=)
c.2884C>T (p.Leu962=)
3g.38725233G>CCA352156692SCN10Ac.3169C>G (p.Leu1057Val)
c.3166C>G (p.Leu1056Val)
c.3193C>G (p.Leu1065Val)
c.2875C>G (p.Leu959Val)
c.3178C>G (p.Leu1060Val)
c.3175C>G (p.Leu1059Val)
c.2884C>G (p.Leu962Val)
3g.38725233G>TCA352156693SCN10Ac.3169C>A (p.Leu1057Met)
c.3166C>A (p.Leu1056Met)
c.3193C>A (p.Leu1065Met)
c.2875C>A (p.Leu959Met)
c.3178C>A (p.Leu1060Met)
c.3175C>A (p.Leu1059Met)
c.2884C>A (p.Leu962Met)
3g.38725234G>ACA433138505SCN10Ac.3168C>T (p.Asp1056=)
c.3165C>T (p.Asp1055=)
c.3192C>T (p.Asp1064=)
c.2874C>T (p.Asp958=)
c.3177C>T (p.Asp1059=)
c.3174C>T (p.Asp1058=)
c.2883C>T (p.Asp961=)
gnomAD v4
3g.38725234G>CCA352156694SCN10Ac.3168C>G (p.Asp1056Glu)
c.3165C>G (p.Asp1055Glu)
c.3192C>G (p.Asp1064Glu)
c.2874C>G (p.Asp958Glu)
c.3177C>G (p.Asp1059Glu)
c.3174C>G (p.Asp1058Glu)
c.2883C>G (p.Asp961Glu)
3g.38725234G>TCA352156695SCN10Ac.3168C>A (p.Asp1056Glu)
c.3165C>A (p.Asp1055Glu)
c.3192C>A (p.Asp1064Glu)
c.2874C>A (p.Asp958Glu)
c.3177C>A (p.Asp1059Glu)
c.3174C>A (p.Asp1058Glu)
c.2883C>A (p.Asp961Glu)
3g.38725235T>ACA352156696SCN10Ac.3167A>T (p.Asp1056Val)
c.3164A>T (p.Asp1055Val)
c.3191A>T (p.Asp1064Val)
c.2873A>T (p.Asp958Val)
c.3176A>T (p.Asp1059Val)
c.3173A>T (p.Asp1058Val)
c.2882A>T (p.Asp961Val)
3g.38725235T>CCA352156697SCN10Ac.3167A>G (p.Asp1056Gly)
c.3164A>G (p.Asp1055Gly)
c.3191A>G (p.Asp1064Gly)
c.2873A>G (p.Asp958Gly)
c.3176A>G (p.Asp1059Gly)
c.3173A>G (p.Asp1058Gly)
c.2882A>G (p.Asp961Gly)
3g.38725235T>GCA352156698SCN10Ac.3167A>C (p.Asp1056Ala)
c.3164A>C (p.Asp1055Ala)
c.3191A>C (p.Asp1064Ala)
c.2873A>C (p.Asp958Ala)
c.3176A>C (p.Asp1059Ala)
c.3173A>C (p.Asp1058Ala)
c.2882A>C (p.Asp961Ala)
3g.38725236C>ACA352156699SCN10Ac.3166G>T (p.Asp1056Tyr)
c.3163G>T (p.Asp1055Tyr)
c.3190G>T (p.Asp1064Tyr)
c.2872G>T (p.Asp958Tyr)
c.3175G>T (p.Asp1059Tyr)
c.3172G>T (p.Asp1058Tyr)
c.2881G>T (p.Asp961Tyr)
3g.38725236C=CA1358640575SCN10Ac.3166G= (p.Asp1056=)
c.3163G= (p.Asp1055=)
c.3190G= (p.Asp1064=)
c.2872G= (p.Asp958=)
c.3175G= (p.Asp1059=)
c.3172G= (p.Asp1058=)
c.2881G= (p.Asp961=)
3g.38725236C>GCA352156700SCN10Ac.3166G>C (p.Asp1056His)
c.3163G>C (p.Asp1055His)
c.3190G>C (p.Asp1064His)
c.2872G>C (p.Asp958His)
c.3175G>C (p.Asp1059His)
c.3172G>C (p.Asp1058His)
c.2881G>C (p.Asp961His)
3g.38725236C>TCA2320334SCN10Ac.3166G>A (p.Asp1056Asn)
c.3163G>A (p.Asp1055Asn)
c.3190G>A (p.Asp1064Asn)
c.2872G>A (p.Asp958Asn)
c.3175G>A (p.Asp1059Asn)
c.3172G>A (p.Asp1058Asn)
c.2881G>A (p.Asp961Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725237C>ACA352156701SCN10Ac.3165G>T (p.Glu1055Asp)
c.3162G>T (p.Glu1054Asp)
c.3189G>T (p.Glu1063Asp)
c.2871G>T (p.Glu957Asp)
c.3174G>T (p.Glu1058Asp)
c.3171G>T (p.Glu1057Asp)
c.2880G>T (p.Glu960Asp)
3g.38725237C>GCA352156702SCN10Ac.3165G>C (p.Glu1055Asp)
c.3162G>C (p.Glu1054Asp)
c.3189G>C (p.Glu1063Asp)
c.2871G>C (p.Glu957Asp)
c.3174G>C (p.Glu1058Asp)
c.3171G>C (p.Glu1057Asp)
c.2880G>C (p.Glu960Asp)
3g.38725237C>TCA433138506SCN10Ac.3165G>A (p.Glu1055=)
c.3162G>A (p.Glu1054=)
c.3189G>A (p.Glu1063=)
c.2871G>A (p.Glu957=)
c.3174G>A (p.Glu1058=)
c.3171G>A (p.Glu1057=)
c.2880G>A (p.Glu960=)
3g.38725238T>ACA352156703SCN10Ac.3164A>T (p.Glu1055Val)
c.3161A>T (p.Glu1054Val)
c.3188A>T (p.Glu1063Val)
c.2870A>T (p.Glu957Val)
c.3173A>T (p.Glu1058Val)
c.3170A>T (p.Glu1057Val)
c.2879A>T (p.Glu960Val)
3g.38725238T>CCA352156704SCN10Ac.3164A>G (p.Glu1055Gly)
c.3161A>G (p.Glu1054Gly)
c.3188A>G (p.Glu1063Gly)
c.2870A>G (p.Glu957Gly)
c.3173A>G (p.Glu1058Gly)
c.3170A>G (p.Glu1057Gly)
c.2879A>G (p.Glu960Gly)
gnomAD v4
3g.38725238T>GCA352156705SCN10Ac.3164A>C (p.Glu1055Ala)
c.3161A>C (p.Glu1054Ala)
c.3188A>C (p.Glu1063Ala)
c.2870A>C (p.Glu957Ala)
c.3173A>C (p.Glu1058Ala)
c.3170A>C (p.Glu1057Ala)
c.2879A>C (p.Glu960Ala)
3g.38725239C>ACA352156706SCN10Ac.3163G>T (p.Glu1055Ter)
c.3160G>T (p.Glu1054Ter)
c.3187G>T (p.Glu1063Ter)
c.2869G>T (p.Glu957Ter)
c.3172G>T (p.Glu1058Ter)
c.3169G>T (p.Glu1057Ter)
c.2878G>T (p.Glu960Ter)
3g.38725239C>GCA352156707SCN10Ac.3163G>C (p.Glu1055Gln)
c.3160G>C (p.Glu1054Gln)
c.3187G>C (p.Glu1063Gln)
c.2869G>C (p.Glu957Gln)
c.3172G>C (p.Glu1058Gln)
c.3169G>C (p.Glu1057Gln)
c.2878G>C (p.Glu960Gln)
3g.38725239C>TCA352156708SCN10Ac.3163G>A (p.Glu1055Lys)
c.3160G>A (p.Glu1054Lys)
c.3187G>A (p.Glu1063Lys)
c.2869G>A (p.Glu957Lys)
c.3172G>A (p.Glu1058Lys)
c.3169G>A (p.Glu1057Lys)
c.2878G>A (p.Glu960Lys)
3g.38725240A>CCA433138507SCN10Ac.3162T>G (p.Ser1054=)
c.3159T>G (p.Ser1053=)
c.3186T>G (p.Ser1062=)
c.2868T>G (p.Ser956=)
c.3171T>G (p.Ser1057=)
c.3168T>G (p.Ser1056=)
c.2877T>G (p.Ser959=)
3g.38725240A>GCA433138508SCN10Ac.3162T>C (p.Ser1054=)
c.3159T>C (p.Ser1053=)
c.3186T>C (p.Ser1062=)
c.2868T>C (p.Ser956=)
c.3171T>C (p.Ser1057=)
c.3168T>C (p.Ser1056=)
c.2877T>C (p.Ser959=)
3g.38725240A>TCA433138509SCN10Ac.3162T>A (p.Ser1054=)
c.3159T>A (p.Ser1053=)
c.3186T>A (p.Ser1062=)
c.2868T>A (p.Ser956=)
c.3171T>A (p.Ser1057=)
c.3168T>A (p.Ser1056=)
c.2877T>A (p.Ser959=)
3g.38725241G>ACA352156709SCN10Ac.3161C>T (p.Ser1054Phe)
c.3158C>T (p.Ser1053Phe)
c.3185C>T (p.Ser1062Phe)
c.2867C>T (p.Ser956Phe)
c.3170C>T (p.Ser1057Phe)
c.3167C>T (p.Ser1056Phe)
c.2876C>T (p.Ser959Phe)
3g.38725241G>CCA352156710SCN10Ac.3161C>G (p.Ser1054Cys)
c.3158C>G (p.Ser1053Cys)
c.3185C>G (p.Ser1062Cys)
c.2867C>G (p.Ser956Cys)
c.3170C>G (p.Ser1057Cys)
c.3167C>G (p.Ser1056Cys)
c.2876C>G (p.Ser959Cys)
3g.38725241G>TCA352156711SCN10Ac.3161C>A (p.Ser1054Tyr)
c.3158C>A (p.Ser1053Tyr)
c.3185C>A (p.Ser1062Tyr)
c.2867C>A (p.Ser956Tyr)
c.3170C>A (p.Ser1057Tyr)
c.3167C>A (p.Ser1056Tyr)
c.2876C>A (p.Ser959Tyr)
3g.38725242A>CCA352156712SCN10Ac.3160T>G (p.Ser1054Ala)
c.3157T>G (p.Ser1053Ala)
c.3184T>G (p.Ser1062Ala)
c.2866T>G (p.Ser956Ala)
c.3169T>G (p.Ser1057Ala)
c.3166T>G (p.Ser1056Ala)
c.2875T>G (p.Ser959Ala)
3g.38725242A>GCA352156713SCN10Ac.3160T>C (p.Ser1054Pro)
c.3157T>C (p.Ser1053Pro)
c.3184T>C (p.Ser1062Pro)
c.2866T>C (p.Ser956Pro)
c.3169T>C (p.Ser1057Pro)
c.3166T>C (p.Ser1056Pro)
c.2875T>C (p.Ser959Pro)
3g.38725242A>TCA352156714SCN10Ac.3160T>A (p.Ser1054Thr)
c.3157T>A (p.Ser1053Thr)
c.3184T>A (p.Ser1062Thr)
c.2866T>A (p.Ser956Thr)
c.3169T>A (p.Ser1057Thr)
c.3166T>A (p.Ser1056Thr)
c.2875T>A (p.Ser959Thr)
gnomAD v4
3g.38725243A>CCA433138510SCN10Ac.3159T>G (p.Ser1053=)
c.3156T>G (p.Ser1052=)
c.3183T>G (p.Ser1061=)
c.2865T>G (p.Ser955=)
c.3168T>G (p.Ser1056=)
c.3165T>G (p.Ser1055=)
c.2874T>G (p.Ser958=)
3g.38725243A>GCA433138511SCN10Ac.3159T>C (p.Ser1053=)
c.3156T>C (p.Ser1052=)
c.3183T>C (p.Ser1061=)
c.2865T>C (p.Ser955=)
c.3168T>C (p.Ser1056=)
c.3165T>C (p.Ser1055=)
c.2874T>C (p.Ser958=)
gnomAD v4
3g.38725243A>TCA433138512SCN10Ac.3159T>A (p.Ser1053=)
c.3156T>A (p.Ser1052=)
c.3183T>A (p.Ser1061=)
c.2865T>A (p.Ser955=)
c.3168T>A (p.Ser1056=)
c.3165T>A (p.Ser1055=)
c.2874T>A (p.Ser958=)
3g.38725244G>ACA352156715SCN10Ac.3158C>T (p.Ser1053Phe)
c.3155C>T (p.Ser1052Phe)
c.3182C>T (p.Ser1061Phe)
c.2864C>T (p.Ser955Phe)
c.3167C>T (p.Ser1056Phe)
c.3164C>T (p.Ser1055Phe)
c.2873C>T (p.Ser958Phe)
gnomAD v4 COSMIC
3g.38725244G>CCA352156716SCN10Ac.3158C>G (p.Ser1053Cys)
c.3155C>G (p.Ser1052Cys)
c.3182C>G (p.Ser1061Cys)
c.2864C>G (p.Ser955Cys)
c.3167C>G (p.Ser1056Cys)
c.3164C>G (p.Ser1055Cys)
c.2873C>G (p.Ser958Cys)
3g.38725244G=CA1358640576SCN10Ac.3158C= (p.Ser1053=)
c.3155C= (p.Ser1052=)
c.3182C= (p.Ser1061=)
c.2864C= (p.Ser955=)
c.3167C= (p.Ser1056=)
c.3164C= (p.Ser1055=)
c.2873C= (p.Ser958=)
3g.38725244G>TCA2320335SCN10Ac.3158C>A (p.Ser1053Tyr)
c.3155C>A (p.Ser1052Tyr)
c.3182C>A (p.Ser1061Tyr)
c.2864C>A (p.Ser955Tyr)
c.3167C>A (p.Ser1056Tyr)
c.3164C>A (p.Ser1055Tyr)
c.2873C>A (p.Ser958Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725245A=CA1358640577SCN10Ac.3157T= (p.Ser1053=)
c.3154T= (p.Ser1052=)
c.3181T= (p.Ser1061=)
c.2863T= (p.Ser955=)
c.3166T= (p.Ser1056=)
c.3163T= (p.Ser1055=)
c.2872T= (p.Ser958=)
3g.38725245A>CCA352156717SCN10Ac.3157T>G (p.Ser1053Ala)
c.3154T>G (p.Ser1052Ala)
c.3181T>G (p.Ser1061Ala)
c.2863T>G (p.Ser955Ala)
c.3166T>G (p.Ser1056Ala)
c.3163T>G (p.Ser1055Ala)
c.2872T>G (p.Ser958Ala)
3g.38725245A>GCA352156719SCN10Ac.3157T>C (p.Ser1053Pro)
c.3154T>C (p.Ser1052Pro)
c.3181T>C (p.Ser1061Pro)
c.2863T>C (p.Ser955Pro)
c.3166T>C (p.Ser1056Pro)
c.3163T>C (p.Ser1055Pro)
c.2872T>C (p.Ser958Pro)
3g.38725245A>TCA72959587SCN10Ac.3157T>A (p.Ser1053Thr)
c.3154T>A (p.Ser1052Thr)
c.3181T>A (p.Ser1061Thr)
c.2863T>A (p.Ser955Thr)
c.3166T>A (p.Ser1056Thr)
c.3163T>A (p.Ser1055Thr)
c.2872T>A (p.Ser958Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725246T>ACA433138513SCN10Ac.3156A>T (p.Thr1052=)
c.3153A>T (p.Thr1051=)
c.3180A>T (p.Thr1060=)
c.2862A>T (p.Thr954=)
c.3165A>T (p.Thr1055=)
c.3162A>T (p.Thr1054=)
c.2871A>T (p.Thr957=)
3g.38725246T>CCA2320336SCN10Ac.3156A>G (p.Thr1052=)
c.3153A>G (p.Thr1051=)
c.3180A>G (p.Thr1060=)
c.2862A>G (p.Thr954=)
c.3165A>G (p.Thr1055=)
c.3162A>G (p.Thr1054=)
c.2871A>G (p.Thr957=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725246T>GCA433138514SCN10Ac.3156A>C (p.Thr1052=)
c.3153A>C (p.Thr1051=)
c.3180A>C (p.Thr1060=)
c.2862A>C (p.Thr954=)
c.3165A>C (p.Thr1055=)
c.3162A>C (p.Thr1054=)
c.2871A>C (p.Thr957=)
3g.38725246T=CA1358640578SCN10Ac.3156A= (p.Thr1052=)
c.3153A= (p.Thr1051=)
c.3180A= (p.Thr1060=)
c.2862A= (p.Thr954=)
c.3165A= (p.Thr1055=)
c.3162A= (p.Thr1054=)
c.2871A= (p.Thr957=)
3g.38725247G>ACA2320337SCN10Ac.3155C>T (p.Thr1052Ile)
c.3152C>T (p.Thr1051Ile)
c.3179C>T (p.Thr1060Ile)
c.2861C>T (p.Thr954Ile)
c.3164C>T (p.Thr1055Ile)
c.3161C>T (p.Thr1054Ile)
c.2870C>T (p.Thr957Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725247G>CCA352156721SCN10Ac.3155C>G (p.Thr1052Arg)
c.3152C>G (p.Thr1051Arg)
c.3179C>G (p.Thr1060Arg)
c.2861C>G (p.Thr954Arg)
c.3164C>G (p.Thr1055Arg)
c.3161C>G (p.Thr1054Arg)
c.2870C>G (p.Thr957Arg)
3g.38725247G=CA1358640579SCN10Ac.3155C= (p.Thr1052=)
c.3152C= (p.Thr1051=)
c.3179C= (p.Thr1060=)
c.2861C= (p.Thr954=)
c.3164C= (p.Thr1055=)
c.3161C= (p.Thr1054=)
c.2870C= (p.Thr957=)
3g.38725247G>TCA352156720SCN10Ac.3155C>A (p.Thr1052Lys)
c.3152C>A (p.Thr1051Lys)
c.3179C>A (p.Thr1060Lys)
c.2861C>A (p.Thr954Lys)
c.3164C>A (p.Thr1055Lys)
c.3161C>A (p.Thr1054Lys)
c.2870C>A (p.Thr957Lys)
3g.38725248T>ACA352156722SCN10Ac.3154A>T (p.Thr1052Ser)
c.3151A>T (p.Thr1051Ser)
c.3178A>T (p.Thr1060Ser)
c.2860A>T (p.Thr954Ser)
c.3163A>T (p.Thr1055Ser)
c.3160A>T (p.Thr1054Ser)
c.2869A>T (p.Thr957Ser)
3g.38725248T>CCA352156723SCN10Ac.3154A>G (p.Thr1052Ala)
c.3151A>G (p.Thr1051Ala)
c.3178A>G (p.Thr1060Ala)
c.2860A>G (p.Thr954Ala)
c.3163A>G (p.Thr1055Ala)
c.3160A>G (p.Thr1054Ala)
c.2869A>G (p.Thr957Ala)
3g.38725248T>GCA352156724SCN10Ac.3154A>C (p.Thr1052Pro)
c.3151A>C (p.Thr1051Pro)
c.3178A>C (p.Thr1060Pro)
c.2860A>C (p.Thr954Pro)
c.3163A>C (p.Thr1055Pro)
c.3160A>C (p.Thr1054Pro)
c.2869A>C (p.Thr957Pro)
3g.38725249T>ACA433138515SCN10Ac.3153A>T (p.Gly1051=)
c.3150A>T (p.Gly1050=)
c.3177A>T (p.Gly1059=)
c.2859A>T (p.Gly953=)
c.3162A>T (p.Gly1054=)
c.3159A>T (p.Gly1053=)
c.2868A>T (p.Gly956=)
3g.38725249T>CCA433138517SCN10Ac.3153A>G (p.Gly1051=)
c.3150A>G (p.Gly1050=)
c.3177A>G (p.Gly1059=)
c.2859A>G (p.Gly953=)
c.3162A>G (p.Gly1054=)
c.3159A>G (p.Gly1053=)
c.2868A>G (p.Gly956=)
3g.38725249T>GCA433138516SCN10Ac.3153A>C (p.Gly1051=)
c.3150A>C (p.Gly1050=)
c.3177A>C (p.Gly1059=)
c.2859A>C (p.Gly953=)
c.3162A>C (p.Gly1054=)
c.3159A>C (p.Gly1053=)
c.2868A>C (p.Gly956=)
3g.38725250C>ACA352156725SCN10Ac.3152G>T (p.Gly1051Val)
c.3149G>T (p.Gly1050Val)
c.3176G>T (p.Gly1059Val)
c.2858G>T (p.Gly953Val)
c.3161G>T (p.Gly1054Val)
c.3158G>T (p.Gly1053Val)
c.2867G>T (p.Gly956Val)
3g.38725250C=CA1358640580SCN10Ac.3152G= (p.Gly1051=)
c.3149G= (p.Gly1050=)
c.3176G= (p.Gly1059=)
c.2858G= (p.Gly953=)
c.3161G= (p.Gly1054=)
c.3158G= (p.Gly1053=)
c.2867G= (p.Gly956=)
3g.38725250C>GCA352156726SCN10Ac.3152G>C (p.Gly1051Ala)
c.3149G>C (p.Gly1050Ala)
c.3176G>C (p.Gly1059Ala)
c.2858G>C (p.Gly953Ala)
c.3161G>C (p.Gly1054Ala)
c.3158G>C (p.Gly1053Ala)
c.2867G>C (p.Gly956Ala)
3g.38725250C>TCA2320338SCN10Ac.3152G>A (p.Gly1051Glu)
c.3149G>A (p.Gly1050Glu)
c.3176G>A (p.Gly1059Glu)
c.2858G>A (p.Gly953Glu)
c.3161G>A (p.Gly1054Glu)
c.3158G>A (p.Gly1053Glu)
c.2867G>A (p.Gly956Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725251C>ACA352156727SCN10Ac.3151G>T (p.Gly1051Ter)
c.3148G>T (p.Gly1050Ter)
c.3175G>T (p.Gly1059Ter)
c.2857G>T (p.Gly953Ter)
c.3160G>T (p.Gly1054Ter)
c.3157G>T (p.Gly1053Ter)
c.2866G>T (p.Gly956Ter)
gnomAD v4
3g.38725251C=CA1358640581SCN10Ac.3151G= (p.Gly1051=)
c.3148G= (p.Gly1050=)
c.3175G= (p.Gly1059=)
c.2857G= (p.Gly953=)
c.3160G= (p.Gly1054=)
c.3157G= (p.Gly1053=)
c.2866G= (p.Gly956=)
3g.38725251C>GCA352156728SCN10Ac.3151G>C (p.Gly1051Arg)
c.3148G>C (p.Gly1050Arg)
c.3175G>C (p.Gly1059Arg)
c.2857G>C (p.Gly953Arg)
c.3160G>C (p.Gly1054Arg)
c.3157G>C (p.Gly1053Arg)
c.2866G>C (p.Gly956Arg)
3g.38725251C>TCA2320339SCN10Ac.3151G>A (p.Gly1051Arg)
c.3148G>A (p.Gly1050Arg)
c.3175G>A (p.Gly1059Arg)
c.2857G>A (p.Gly953Arg)
c.3160G>A (p.Gly1054Arg)
c.3157G>A (p.Gly1053Arg)
c.2866G>A (p.Gly956Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725252A>CCA433138518SCN10Ac.3150T>G (p.Thr1050=)
c.3147T>G (p.Thr1049=)
c.3174T>G (p.Thr1058=)
c.2856T>G (p.Thr952=)
c.3159T>G (p.Thr1053=)
c.3156T>G (p.Thr1052=)
c.2865T>G (p.Thr955=)
3g.38725252A>GCA433138519SCN10Ac.3150T>C (p.Thr1050=)
c.3147T>C (p.Thr1049=)
c.3174T>C (p.Thr1058=)
c.2856T>C (p.Thr952=)
c.3159T>C (p.Thr1053=)
c.3156T>C (p.Thr1052=)
c.2865T>C (p.Thr955=)
3g.38725252A>TCA433138520SCN10Ac.3150T>A (p.Thr1050=)
c.3147T>A (p.Thr1049=)
c.3174T>A (p.Thr1058=)
c.2856T>A (p.Thr952=)
c.3159T>A (p.Thr1053=)
c.3156T>A (p.Thr1052=)
c.2865T>A (p.Thr955=)
3g.38725253G>ACA352156729SCN10Ac.3149C>T (p.Thr1050Ile)
c.3146C>T (p.Thr1049Ile)
c.3173C>T (p.Thr1058Ile)
c.2855C>T (p.Thr952Ile)
c.3158C>T (p.Thr1053Ile)
c.3155C>T (p.Thr1052Ile)
c.2864C>T (p.Thr955Ile)
gnomAD v4
3g.38725253G>CCA352156731SCN10Ac.3149C>G (p.Thr1050Ser)
c.3146C>G (p.Thr1049Ser)
c.3173C>G (p.Thr1058Ser)
c.2855C>G (p.Thr952Ser)
c.3158C>G (p.Thr1053Ser)
c.3155C>G (p.Thr1052Ser)
c.2864C>G (p.Thr955Ser)
3g.38725253G>TCA352156730SCN10Ac.3149C>A (p.Thr1050Asn)
c.3146C>A (p.Thr1049Asn)
c.3173C>A (p.Thr1058Asn)
c.2855C>A (p.Thr952Asn)
c.3158C>A (p.Thr1053Asn)
c.3155C>A (p.Thr1052Asn)
c.2864C>A (p.Thr955Asn)
3g.38725254T>ACA352156732SCN10Ac.3148A>T (p.Thr1050Ser)
c.3145A>T (p.Thr1049Ser)
c.3172A>T (p.Thr1058Ser)
c.2854A>T (p.Thr952Ser)
c.3157A>T (p.Thr1053Ser)
c.3154A>T (p.Thr1052Ser)
c.2863A>T (p.Thr955Ser)
3g.38725254T>CCA352156734SCN10Ac.3148A>G (p.Thr1050Ala)
c.3145A>G (p.Thr1049Ala)
c.3172A>G (p.Thr1058Ala)
c.2854A>G (p.Thr952Ala)
c.3157A>G (p.Thr1053Ala)
c.3154A>G (p.Thr1052Ala)
c.2863A>G (p.Thr955Ala)
3g.38725254T>GCA352156733SCN10Ac.3148A>C (p.Thr1050Pro)
c.3145A>C (p.Thr1049Pro)
c.3172A>C (p.Thr1058Pro)
c.2854A>C (p.Thr952Pro)
c.3157A>C (p.Thr1053Pro)
c.3154A>C (p.Thr1052Pro)
c.2863A>C (p.Thr955Pro)
3g.38725255G>ACA433138521SCN10Ac.3147C>T (p.Gly1049=)
c.3144C>T (p.Gly1048=)
c.3171C>T (p.Gly1057=)
c.2853C>T (p.Gly951=)
c.3156C>T (p.Gly1052=)
c.3153C>T (p.Gly1051=)
c.2862C>T (p.Gly954=)
3g.38725255G>CCA433138522SCN10Ac.3147C>G (p.Gly1049=)
c.3144C>G (p.Gly1048=)
c.3171C>G (p.Gly1057=)
c.2853C>G (p.Gly951=)
c.3156C>G (p.Gly1052=)
c.3153C>G (p.Gly1051=)
c.2862C>G (p.Gly954=)
3g.38725255G>TCA433138523SCN10Ac.3147C>A (p.Gly1049=)
c.3144C>A (p.Gly1048=)
c.3171C>A (p.Gly1057=)
c.2853C>A (p.Gly951=)
c.3156C>A (p.Gly1052=)
c.3153C>A (p.Gly1051=)
c.2862C>A (p.Gly954=)
3g.38725256C>ACA352156735SCN10Ac.3146G>T (p.Gly1049Val)
c.3143G>T (p.Gly1048Val)
c.3170G>T (p.Gly1057Val)
c.2852G>T (p.Gly951Val)
c.3155G>T (p.Gly1052Val)
c.3152G>T (p.Gly1051Val)
c.2861G>T (p.Gly954Val)
3g.38725256C=CA1358640582SCN10Ac.3146G= (p.Gly1049=)
c.3143G= (p.Gly1048=)
c.3170G= (p.Gly1057=)
c.2852G= (p.Gly951=)
c.3155G= (p.Gly1052=)
c.3152G= (p.Gly1051=)
c.2861G= (p.Gly954=)
3g.38725256C>GCA352156736SCN10Ac.3146G>C (p.Gly1049Ala)
c.3143G>C (p.Gly1048Ala)
c.3170G>C (p.Gly1057Ala)
c.2852G>C (p.Gly951Ala)
c.3155G>C (p.Gly1052Ala)
c.3152G>C (p.Gly1051Ala)
c.2861G>C (p.Gly954Ala)
3g.38725256C>TCA352156737SCN10Ac.3146G>A (p.Gly1049Asp)
c.3143G>A (p.Gly1048Asp)
c.3170G>A (p.Gly1057Asp)
c.2852G>A (p.Gly951Asp)
c.3155G>A (p.Gly1052Asp)
c.3152G>A (p.Gly1051Asp)
c.2861G>A (p.Gly954Asp)
dbSNP gnomAD v2 gnomAD v4
3g.38725257C>ACA352156738SCN10Ac.3145G>T (p.Gly1049Cys)
c.3142G>T (p.Gly1048Cys)
c.3169G>T (p.Gly1057Cys)
c.2851G>T (p.Gly951Cys)
c.3154G>T (p.Gly1052Cys)
c.3151G>T (p.Gly1051Cys)
c.2860G>T (p.Gly954Cys)
COSMIC
3g.38725257C>GCA352156739SCN10Ac.3145G>C (p.Gly1049Arg)
c.3142G>C (p.Gly1048Arg)
c.3169G>C (p.Gly1057Arg)
c.2851G>C (p.Gly951Arg)
c.3154G>C (p.Gly1052Arg)
c.3151G>C (p.Gly1051Arg)
c.2860G>C (p.Gly954Arg)
3g.38725257C>TCA352156740SCN10Ac.3145G>A (p.Gly1049Ser)
c.3142G>A (p.Gly1048Ser)
c.3169G>A (p.Gly1057Ser)
c.2851G>A (p.Gly951Ser)
c.3154G>A (p.Gly1052Ser)
c.3151G>A (p.Gly1051Ser)
c.2860G>A (p.Gly954Ser)
gnomAD v4
3g.38725258T>ACA433138524SCN10Ac.3144A>T (p.Pro1048=)
c.3141A>T (p.Pro1047=)
c.3168A>T (p.Pro1056=)
c.2850A>T (p.Pro950=)
c.3153A>T (p.Pro1051=)
c.3150A>T (p.Pro1050=)
c.2859A>T (p.Pro953=)
3g.38725258T>CCA433138525SCN10Ac.3144A>G (p.Pro1048=)
c.3141A>G (p.Pro1047=)
c.3168A>G (p.Pro1056=)
c.2850A>G (p.Pro950=)
c.3153A>G (p.Pro1051=)
c.3150A>G (p.Pro1050=)
c.2859A>G (p.Pro953=)
3g.38725258T>GCA433138526SCN10Ac.3144A>C (p.Pro1048=)
c.3141A>C (p.Pro1047=)
c.3168A>C (p.Pro1056=)
c.2850A>C (p.Pro950=)
c.3153A>C (p.Pro1051=)
c.3150A>C (p.Pro1050=)
c.2859A>C (p.Pro953=)
3g.38725259G>ACA352156743SCN10Ac.3143C>T (p.Pro1048Leu)
c.3140C>T (p.Pro1047Leu)
c.3167C>T (p.Pro1056Leu)
c.2849C>T (p.Pro950Leu)
c.3152C>T (p.Pro1051Leu)
c.3149C>T (p.Pro1050Leu)
c.2858C>T (p.Pro953Leu)
3g.38725259G>CCA352156741SCN10Ac.3143C>G (p.Pro1048Arg)
c.3140C>G (p.Pro1047Arg)
c.3167C>G (p.Pro1056Arg)
c.2849C>G (p.Pro950Arg)
c.3152C>G (p.Pro1051Arg)
c.3149C>G (p.Pro1050Arg)
c.2858C>G (p.Pro953Arg)
3g.38725259G>TCA352156742SCN10Ac.3143C>A (p.Pro1048Gln)
c.3140C>A (p.Pro1047Gln)
c.3167C>A (p.Pro1056Gln)
c.2849C>A (p.Pro950Gln)
c.3152C>A (p.Pro1051Gln)
c.3149C>A (p.Pro1050Gln)
c.2858C>A (p.Pro953Gln)
gnomAD v4
3g.38725261delCA2665099758SCN10Ac.3143del (p.Pro1048GlnfsTer?)
c.3140del (p.Pro1047GlnfsTer?)
c.3167del (p.Pro1056GlnfsTer?)
c.2849del (p.Pro950GlnfsTer?)
c.3152del (p.Pro1051GlnfsTer?)
c.3149del (p.Pro1050GlnfsTer?)
c.2858del (p.Pro953GlnfsTer?)
gnomAD v4
3g.38725260G>ACA2320340SCN10Ac.3142C>T (p.Pro1048Ser)
c.3139C>T (p.Pro1047Ser)
c.3166C>T (p.Pro1056Ser)
c.2848C>T (p.Pro950Ser)
c.3151C>T (p.Pro1051Ser)
c.3148C>T (p.Pro1050Ser)
c.2857C>T (p.Pro953Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725260G>CCA352156744SCN10Ac.3142C>G (p.Pro1048Ala)
c.3139C>G (p.Pro1047Ala)
c.3166C>G (p.Pro1056Ala)
c.2848C>G (p.Pro950Ala)
c.3151C>G (p.Pro1051Ala)
c.3148C>G (p.Pro1050Ala)
c.2857C>G (p.Pro953Ala)
3g.38725260G=CA1358640583SCN10Ac.3142C= (p.Pro1048=)
c.3139C= (p.Pro1047=)
c.3166C= (p.Pro1056=)
c.2848C= (p.Pro950=)
c.3151C= (p.Pro1051=)
c.3148C= (p.Pro1050=)
c.2857C= (p.Pro953=)
3g.38725260G>TCA352156745SCN10Ac.3142C>A (p.Pro1048Thr)
c.3139C>A (p.Pro1047Thr)
c.3166C>A (p.Pro1056Thr)
c.2848C>A (p.Pro950Thr)
c.3151C>A (p.Pro1051Thr)
c.3148C>A (p.Pro1050Thr)
c.2857C>A (p.Pro953Thr)
dbSNP gnomAD v4
3g.38725261G>ACA433138527SCN10Ac.3141C>T (p.Ser1047=)
c.3138C>T (p.Ser1046=)
c.3165C>T (p.Ser1055=)
c.2847C>T (p.Ser949=)
c.3150C>T (p.Ser1050=)
c.3147C>T (p.Ser1049=)
c.2856C>T (p.Ser952=)
gnomAD v4
3g.38725261G>CCA352156746SCN10Ac.3141C>G (p.Ser1047Arg)
c.3138C>G (p.Ser1046Arg)
c.3165C>G (p.Ser1055Arg)
c.2847C>G (p.Ser949Arg)
c.3150C>G (p.Ser1050Arg)
c.3147C>G (p.Ser1049Arg)
c.2856C>G (p.Ser952Arg)
3g.38725261G>TCA352156747SCN10Ac.3141C>A (p.Ser1047Arg)
c.3138C>A (p.Ser1046Arg)
c.3165C>A (p.Ser1055Arg)
c.2847C>A (p.Ser949Arg)
c.3150C>A (p.Ser1050Arg)
c.3147C>A (p.Ser1049Arg)
c.2856C>A (p.Ser952Arg)
3g.38725262C>ACA352156748SCN10Ac.3140G>T (p.Ser1047Ile)
c.3137G>T (p.Ser1046Ile)
c.3164G>T (p.Ser1055Ile)
c.2846G>T (p.Ser949Ile)
c.3149G>T (p.Ser1050Ile)
c.3146G>T (p.Ser1049Ile)
c.2855G>T (p.Ser952Ile)
gnomAD v4
3g.38725262C=CA1358640584SCN10Ac.3140G= (p.Ser1047=)
c.3137G= (p.Ser1046=)
c.3164G= (p.Ser1055=)
c.2846G= (p.Ser949=)
c.3149G= (p.Ser1050=)
c.3146G= (p.Ser1049=)
c.2855G= (p.Ser952=)
3g.38725262C>GCA352156749SCN10Ac.3140G>C (p.Ser1047Thr)
c.3137G>C (p.Ser1046Thr)
c.3164G>C (p.Ser1055Thr)
c.2846G>C (p.Ser949Thr)
c.3149G>C (p.Ser1050Thr)
c.3146G>C (p.Ser1049Thr)
c.2855G>C (p.Ser952Thr)
ClinVar dbSNP
3g.38725262C>TCA2320341SCN10Ac.3140G>A (p.Ser1047Asn)
c.3137G>A (p.Ser1046Asn)
c.3164G>A (p.Ser1055Asn)
c.2846G>A (p.Ser949Asn)
c.3149G>A (p.Ser1050Asn)
c.3146G>A (p.Ser1049Asn)
c.2855G>A (p.Ser952Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725263T>ACA352156750SCN10Ac.3139A>T (p.Ser1047Cys)
c.3136A>T (p.Ser1046Cys)
c.3163A>T (p.Ser1055Cys)
c.2845A>T (p.Ser949Cys)
c.3148A>T (p.Ser1050Cys)
c.3145A>T (p.Ser1049Cys)
c.2854A>T (p.Ser952Cys)
3g.38725263T>CCA352156751SCN10Ac.3139A>G (p.Ser1047Gly)
c.3136A>G (p.Ser1046Gly)
c.3163A>G (p.Ser1055Gly)
c.2845A>G (p.Ser949Gly)
c.3148A>G (p.Ser1050Gly)
c.3145A>G (p.Ser1049Gly)
c.2854A>G (p.Ser952Gly)
ClinVar dbSNP gnomAD v4
3g.38725263T>GCA352156752SCN10Ac.3139A>C (p.Ser1047Arg)
c.3136A>C (p.Ser1046Arg)
c.3163A>C (p.Ser1055Arg)
c.2845A>C (p.Ser949Arg)
c.3148A>C (p.Ser1050Arg)
c.3145A>C (p.Ser1049Arg)
c.2854A>C (p.Ser952Arg)
3g.38725263T=CA1358640585SCN10Ac.3139A= (p.Ser1047=)
c.3136A= (p.Ser1046=)
c.3163A= (p.Ser1055=)
c.2845A= (p.Ser949=)
c.3148A= (p.Ser1050=)
c.3145A= (p.Ser1049=)
c.2854A= (p.Ser952=)
3g.38725264C>ACA352156753SCN10Ac.3138G>T (p.Arg1046Ser)
c.3135G>T (p.Arg1045Ser)
c.3162G>T (p.Arg1054Ser)
c.2844G>T (p.Arg948Ser)
c.3147G>T (p.Arg1049Ser)
c.3144G>T (p.Arg1048Ser)
c.2853G>T (p.Arg951Ser)
gnomAD v4
3g.38725264C=CA1358640586SCN10Ac.3138G= (p.Arg1046=)
c.3135G= (p.Arg1045=)
c.3162G= (p.Arg1054=)
c.2844G= (p.Arg948=)
c.3147G= (p.Arg1049=)
c.3144G= (p.Arg1048=)
c.2853G= (p.Arg951=)
3g.38725264C>GCA352156754SCN10Ac.3138G>C (p.Arg1046Ser)
c.3135G>C (p.Arg1045Ser)
c.3162G>C (p.Arg1054Ser)
c.2844G>C (p.Arg948Ser)
c.3147G>C (p.Arg1049Ser)
c.3144G>C (p.Arg1048Ser)
c.2853G>C (p.Arg951Ser)
3g.38725264C>TCA2320342SCN10Ac.3138G>A (p.Arg1046=)
c.3135G>A (p.Arg1045=)
c.3162G>A (p.Arg1054=)
c.2844G>A (p.Arg948=)
c.3147G>A (p.Arg1049=)
c.3144G>A (p.Arg1048=)
c.2853G>A (p.Arg951=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725265C>ACA352156755SCN10Ac.3137G>T (p.Arg1046Met)
c.3134G>T (p.Arg1045Met)
c.3161G>T (p.Arg1054Met)
c.2843G>T (p.Arg948Met)
c.3146G>T (p.Arg1049Met)
c.3143G>T (p.Arg1048Met)
c.2852G>T (p.Arg951Met)
3g.38725265C>GCA352156756SCN10Ac.3137G>C (p.Arg1046Thr)
c.3134G>C (p.Arg1045Thr)
c.3161G>C (p.Arg1054Thr)
c.2843G>C (p.Arg948Thr)
c.3146G>C (p.Arg1049Thr)
c.3143G>C (p.Arg1048Thr)
c.2852G>C (p.Arg951Thr)
3g.38725265C>TCA352156757SCN10Ac.3137G>A (p.Arg1046Lys)
c.3134G>A (p.Arg1045Lys)
c.3161G>A (p.Arg1054Lys)
c.2843G>A (p.Arg948Lys)
c.3146G>A (p.Arg1049Lys)
c.3143G>A (p.Arg1048Lys)
c.2852G>A (p.Arg951Lys)
3g.38725266T>ACA352156758SCN10Ac.3136A>T (p.Arg1046Trp)
c.3133A>T (p.Arg1045Trp)
c.3160A>T (p.Arg1054Trp)
c.2842A>T (p.Arg948Trp)
c.3145A>T (p.Arg1049Trp)
c.3142A>T (p.Arg1048Trp)
c.2851A>T (p.Arg951Trp)
3g.38725266T>CCA352156759SCN10Ac.3136A>G (p.Arg1046Gly)
c.3133A>G (p.Arg1045Gly)
c.3160A>G (p.Arg1054Gly)
c.2842A>G (p.Arg948Gly)
c.3145A>G (p.Arg1049Gly)
c.3142A>G (p.Arg1048Gly)
c.2851A>G (p.Arg951Gly)
dbSNP gnomAD v2 gnomAD v4
3g.38725266T>GCA433138528SCN10Ac.3136A>C (p.Arg1046=)
c.3133A>C (p.Arg1045=)
c.3160A>C (p.Arg1054=)
c.2842A>C (p.Arg948=)
c.3145A>C (p.Arg1049=)
c.3142A>C (p.Arg1048=)
c.2851A>C (p.Arg951=)
3g.38725266T=CA1358640587SCN10Ac.3136A= (p.Arg1046=)
c.3133A= (p.Arg1045=)
c.3160A= (p.Arg1054=)
c.2842A= (p.Arg948=)
c.3145A= (p.Arg1049=)
c.3142A= (p.Arg1048=)
c.2851A= (p.Arg951=)
3g.38725267G>ACA433138529SCN10Ac.3135C>T (p.Pro1045=)
c.3132C>T (p.Pro1044=)
c.3159C>T (p.Pro1053=)
c.2841C>T (p.Pro947=)
c.3144C>T (p.Pro1048=)
c.3141C>T (p.Pro1047=)
c.2850C>T (p.Pro950=)
gnomAD v4
3g.38725267G>CCA433138530SCN10Ac.3135C>G (p.Pro1045=)
c.3132C>G (p.Pro1044=)
c.3159C>G (p.Pro1053=)
c.2841C>G (p.Pro947=)
c.3144C>G (p.Pro1048=)
c.3141C>G (p.Pro1047=)
c.2850C>G (p.Pro950=)
3g.38725267G>TCA433138531SCN10Ac.3135C>A (p.Pro1045=)
c.3132C>A (p.Pro1044=)
c.3159C>A (p.Pro1053=)
c.2841C>A (p.Pro947=)
c.3144C>A (p.Pro1048=)
c.3141C>A (p.Pro1047=)
c.2850C>A (p.Pro950=)
3g.38725268G>ACA352156760SCN10Ac.3134C>T (p.Pro1045Leu)
c.3131C>T (p.Pro1044Leu)
c.3158C>T (p.Pro1053Leu)
c.2840C>T (p.Pro947Leu)
c.3143C>T (p.Pro1048Leu)
c.3140C>T (p.Pro1047Leu)
c.2849C>T (p.Pro950Leu)
ClinVar gnomAD v4
3g.38725268G>CCA352156762SCN10Ac.3134C>G (p.Pro1045Arg)
c.3131C>G (p.Pro1044Arg)
c.3158C>G (p.Pro1053Arg)
c.2840C>G (p.Pro947Arg)
c.3143C>G (p.Pro1048Arg)
c.3140C>G (p.Pro1047Arg)
c.2849C>G (p.Pro950Arg)
ClinVar dbSNP gnomAD v4
3g.38725268G>TCA352156761SCN10Ac.3134C>A (p.Pro1045His)
c.3131C>A (p.Pro1044His)
c.3158C>A (p.Pro1053His)
c.2840C>A (p.Pro947His)
c.3143C>A (p.Pro1048His)
c.3140C>A (p.Pro1047His)
c.2849C>A (p.Pro950His)
3g.38725269G>ACA352156763SCN10Ac.3133C>T (p.Pro1045Ser)
c.3130C>T (p.Pro1044Ser)
c.3157C>T (p.Pro1053Ser)
c.2839C>T (p.Pro947Ser)
c.3142C>T (p.Pro1048Ser)
c.3139C>T (p.Pro1047Ser)
c.2848C>T (p.Pro950Ser)
gnomAD v4
3g.38725269G>CCA352156764SCN10Ac.3133C>G (p.Pro1045Ala)
c.3130C>G (p.Pro1044Ala)
c.3157C>G (p.Pro1053Ala)
c.2839C>G (p.Pro947Ala)
c.3142C>G (p.Pro1048Ala)
c.3139C>G (p.Pro1047Ala)
c.2848C>G (p.Pro950Ala)
3g.38725269G=CA1358640588SCN10Ac.3133C= (p.Pro1045=)
c.3130C= (p.Pro1044=)
c.3157C= (p.Pro1053=)
c.2839C= (p.Pro947=)
c.3142C= (p.Pro1048=)
c.3139C= (p.Pro1047=)
c.2848C= (p.Pro950=)
3g.38725269G>TCA2320343SCN10Ac.3133C>A (p.Pro1045Thr)
c.3130C>A (p.Pro1044Thr)
c.3157C>A (p.Pro1053Thr)
c.2839C>A (p.Pro947Thr)
c.3142C>A (p.Pro1048Thr)
c.3139C>A (p.Pro1047Thr)
c.2848C>A (p.Pro950Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725270T>ACA433138534SCN10Ac.3132A>T (p.Thr1044=)
c.3129A>T (p.Thr1043=)
c.3156A>T (p.Thr1052=)
c.2838A>T (p.Thr946=)
c.3141A>T (p.Thr1047=)
c.3138A>T (p.Thr1046=)
c.2847A>T (p.Thr949=)
3g.38725270T>CCA433138533SCN10Ac.3132A>G (p.Thr1044=)
c.3129A>G (p.Thr1043=)
c.3156A>G (p.Thr1052=)
c.2838A>G (p.Thr946=)
c.3141A>G (p.Thr1047=)
c.3138A>G (p.Thr1046=)
c.2847A>G (p.Thr949=)
3g.38725270T>GCA433138532SCN10Ac.3132A>C (p.Thr1044=)
c.3129A>C (p.Thr1043=)
c.3156A>C (p.Thr1052=)
c.2838A>C (p.Thr946=)
c.3141A>C (p.Thr1047=)
c.3138A>C (p.Thr1046=)
c.2847A>C (p.Thr949=)
3g.38725271G>ACA2320344SCN10Ac.3131C>T (p.Thr1044Ile)
c.3128C>T (p.Thr1043Ile)
c.3155C>T (p.Thr1052Ile)
c.2837C>T (p.Thr946Ile)
c.3140C>T (p.Thr1047Ile)
c.3137C>T (p.Thr1046Ile)
c.2846C>T (p.Thr949Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725271G>CCA352156765SCN10Ac.3131C>G (p.Thr1044Arg)
c.3128C>G (p.Thr1043Arg)
c.3155C>G (p.Thr1052Arg)
c.2837C>G (p.Thr946Arg)
c.3140C>G (p.Thr1047Arg)
c.3137C>G (p.Thr1046Arg)
c.2846C>G (p.Thr949Arg)
3g.38725271G=CA1358640589SCN10Ac.3131C= (p.Thr1044=)
c.3128C= (p.Thr1043=)
c.3155C= (p.Thr1052=)
c.2837C= (p.Thr946=)
c.3140C= (p.Thr1047=)
c.3137C= (p.Thr1046=)
c.2846C= (p.Thr949=)
3g.38725271G>TCA352156766SCN10Ac.3131C>A (p.Thr1044Lys)
c.3128C>A (p.Thr1043Lys)
c.3155C>A (p.Thr1052Lys)
c.2837C>A (p.Thr946Lys)
c.3140C>A (p.Thr1047Lys)
c.3137C>A (p.Thr1046Lys)
c.2846C>A (p.Thr949Lys)
3g.38725271_38725272insCCA906865410SCN10Ac.3130_3131insG (p.Thr1044SerfsTer12)
c.3127_3128insG (p.Thr1043SerfsTer12)
c.3154_3155insG (p.Thr1052SerfsTer12)
c.2836_2837insG (p.Thr946SerfsTer12)
c.3139_3140insG (p.Thr1047SerfsTer12)
c.3136_3137insG (p.Thr1046SerfsTer12)
c.2845_2846insG (p.Thr949SerfsTer12)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38725272T>ACA352156767SCN10Ac.3130A>T (p.Thr1044Ser)
c.3127A>T (p.Thr1043Ser)
c.3154A>T (p.Thr1052Ser)
c.2836A>T (p.Thr946Ser)
c.3139A>T (p.Thr1047Ser)
c.3136A>T (p.Thr1046Ser)
c.2845A>T (p.Thr949Ser)
3g.38725272T>CCA2320345SCN10Ac.3130A>G (p.Thr1044Ala)
c.3127A>G (p.Thr1043Ala)
c.3154A>G (p.Thr1052Ala)
c.2836A>G (p.Thr946Ala)
c.3139A>G (p.Thr1047Ala)
c.3136A>G (p.Thr1046Ala)
c.2845A>G (p.Thr949Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725272T>GCA352156768SCN10Ac.3130A>C (p.Thr1044Pro)
c.3127A>C (p.Thr1043Pro)
c.3154A>C (p.Thr1052Pro)
c.2836A>C (p.Thr946Pro)
c.3139A>C (p.Thr1047Pro)
c.3136A>C (p.Thr1046Pro)
c.2845A>C (p.Thr949Pro)
3g.38725272T=CA1358640590SCN10Ac.3130A= (p.Thr1044=)
c.3127A= (p.Thr1043=)
c.3154A= (p.Thr1052=)
c.2836A= (p.Thr946=)
c.3139A= (p.Thr1047=)
c.3136A= (p.Thr1046=)
c.2845A= (p.Thr949=)
3g.38725272_38725273delCA2561920201SCN10Ac.3129_3130del (p.Pro1045GlnfsTer10)
c.3126_3127del (p.Pro1044GlnfsTer10)
c.3153_3154del (p.Pro1053GlnfsTer10)
c.2835_2836del (p.Pro947GlnfsTer10)
c.3138_3139del (p.Pro1048GlnfsTer10)
c.3135_3136del (p.Pro1047GlnfsTer10)
c.2844_2845del (p.Pro950GlnfsTer10)
3g.38725272_38725284delinsGAAGATGTTCCAGTGCCTGGCA2582342849SCN10Ac.3118_3130delinsCCAGGCACTGGAACATCTTC (p.Gly1040ProfsTer18)
c.3115_3127delinsCCAGGCACTGGAACATCTTC (p.Gly1039ProfsTer18)
c.3142_3154delinsCCAGGCACTGGAACATCTTC (p.Gly1048ProfsTer18)
c.2824_2836delinsCCAGGCACTGGAACATCTTC (p.Gly942ProfsTer18)
c.3127_3139delinsCCAGGCACTGGAACATCTTC (p.Gly1043ProfsTer18)
c.3124_3136delinsCCAGGCACTGGAACATCTTC (p.Gly1042ProfsTer18)
c.2833_2845delinsCCAGGCACTGGAACATCTTC (p.Gly945ProfsTer18)
ClinVar
3g.38725272_38725284delinsCTCAGAAGATGTTCCAGTGCCTGGCA2580069773SCN10Ac.3118_3130delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1040ProfsTer?)
c.3115_3127delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1039ProfsTer?)
c.3142_3154delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1048ProfsTer?)
c.2824_2836delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly942ProfsTer?)
c.3127_3139delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1043ProfsTer?)
c.3124_3136delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1042ProfsTer?)
c.2833_2845delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly945ProfsTer?)
ClinVar dbSNP
3g.38725273C>ACA433138537SCN10Ac.3129G>T (p.Leu1043=)
c.3126G>T (p.Leu1042=)
c.3153G>T (p.Leu1051=)
c.2835G>T (p.Leu945=)
c.3138G>T (p.Leu1046=)
c.3135G>T (p.Leu1045=)
c.2844G>T (p.Leu948=)
gnomAD v4
3g.38725273C=CA1358640591SCN10Ac.3129G= (p.Leu1043=)
c.3126G= (p.Leu1042=)
c.3153G= (p.Leu1051=)
c.2835G= (p.Leu945=)
c.3138G= (p.Leu1046=)
c.3135G= (p.Leu1045=)
c.2844G= (p.Leu948=)
3g.38725273C>GCA433138536SCN10Ac.3129G>C (p.Leu1043=)
c.3126G>C (p.Leu1042=)
c.3153G>C (p.Leu1051=)
c.2835G>C (p.Leu945=)
c.3138G>C (p.Leu1046=)
c.3135G>C (p.Leu1045=)
c.2844G>C (p.Leu948=)
3g.38725273C>TCA433138535SCN10Ac.3129G>A (p.Leu1043=)
c.3126G>A (p.Leu1042=)
c.3153G>A (p.Leu1051=)
c.2835G>A (p.Leu945=)
c.3138G>A (p.Leu1046=)
c.3135G>A (p.Leu1045=)
c.2844G>A (p.Leu948=)
gnomAD v4
3g.38725274A=CA1358640592SCN10Ac.3128T= (p.Leu1043=)
c.3125T= (p.Leu1042=)
c.3152T= (p.Leu1051=)
c.2834T= (p.Leu945=)
c.3137T= (p.Leu1046=)
c.3134T= (p.Leu1045=)
c.2843T= (p.Leu948=)
3g.38725274A>CCA352156769SCN10Ac.3128T>G (p.Leu1043Arg)
c.3125T>G (p.Leu1042Arg)
c.3152T>G (p.Leu1051Arg)
c.2834T>G (p.Leu945Arg)
c.3137T>G (p.Leu1046Arg)
c.3134T>G (p.Leu1045Arg)
c.2843T>G (p.Leu948Arg)
3g.38725274A>GCA352156770SCN10Ac.3128T>C (p.Leu1043Pro)
c.3125T>C (p.Leu1042Pro)
c.3152T>C (p.Leu1051Pro)
c.2834T>C (p.Leu945Pro)
c.3137T>C (p.Leu1046Pro)
c.3134T>C (p.Leu1045Pro)
c.2843T>C (p.Leu948Pro)
gnomAD v4
3g.38725274A>TCA352156771SCN10Ac.3128T>A (p.Leu1043Gln)
c.3125T>A (p.Leu1042Gln)
c.3152T>A (p.Leu1051Gln)
c.2834T>A (p.Leu945Gln)
c.3137T>A (p.Leu1046Gln)
c.3134T>A (p.Leu1045Gln)
c.2843T>A (p.Leu948Gln)
dbSNP gnomAD v4
3g.38725275_38725276insAAGCA906865428SCN10Ac.3128_3129insTCT (p.Leu1043_Thr1044insLeu)
c.3125_3126insTCT (p.Leu1042_Thr1043insLeu)
c.3152_3153insTCT (p.Leu1051_Thr1052insLeu)
c.2834_2835insTCT (p.Leu945_Thr946insLeu)
c.3137_3138insTCT (p.Leu1046_Thr1047insLeu)
c.3134_3135insTCT (p.Leu1045_Thr1046insLeu)
c.2843_2844insTCT (p.Leu948_Thr949insLeu)
dbSNP
3g.38725275G>ACA433138538SCN10Ac.3127C>T (p.Leu1043=)
c.3124C>T (p.Leu1042=)
c.3151C>T (p.Leu1051=)
c.2833C>T (p.Leu945=)
c.3136C>T (p.Leu1046=)
c.3133C>T (p.Leu1045=)
c.2842C>T (p.Leu948=)
3g.38725275G>CCA352156772SCN10Ac.3127C>G (p.Leu1043Val)
c.3124C>G (p.Leu1042Val)
c.3151C>G (p.Leu1051Val)
c.2833C>G (p.Leu945Val)
c.3136C>G (p.Leu1046Val)
c.3133C>G (p.Leu1045Val)
c.2842C>G (p.Leu948Val)
3g.38725275G=CA1358640593SCN10Ac.3127C= (p.Leu1043=)
c.3124C= (p.Leu1042=)
c.3151C= (p.Leu1051=)
c.2833C= (p.Leu945=)
c.3136C= (p.Leu1046=)
c.3133C= (p.Leu1045=)
c.2842C= (p.Leu948=)
3g.38725275G>TCA352156773SCN10Ac.3127C>A (p.Leu1043Met)
c.3124C>A (p.Leu1042Met)
c.3151C>A (p.Leu1051Met)
c.2833C>A (p.Leu945Met)
c.3136C>A (p.Leu1046Met)
c.3133C>A (p.Leu1045Met)
c.2842C>A (p.Leu948Met)
3g.38725275_38725276insAACA1047001800SCN10Ac.3126_3127insTT (p.Leu1043PhefsTer2)
c.3123_3124insTT (p.Leu1042PhefsTer2)
c.3150_3151insTT (p.Leu1051PhefsTer2)
c.2832_2833insTT (p.Leu945PhefsTer2)
c.3135_3136insTT (p.Leu1046PhefsTer2)
c.3132_3133insTT (p.Leu1045PhefsTer2)
c.2841_2842insTT (p.Leu948PhefsTer2)
dbSNP gnomAD v3 gnomAD v4
3g.38725276G>ACA433138539SCN10Ac.3126C>T (p.His1042=)
c.3123C>T (p.His1041=)
c.3150C>T (p.His1050=)
c.2832C>T (p.His944=)
c.3135C>T (p.His1045=)
c.3132C>T (p.His1044=)
c.2841C>T (p.His947=)
dbSNP
3g.38725276G>CCA352156774SCN10Ac.3126C>G (p.His1042Gln)
c.3123C>G (p.His1041Gln)
c.3150C>G (p.His1050Gln)
c.2832C>G (p.His944Gln)
c.3135C>G (p.His1045Gln)
c.3132C>G (p.His1044Gln)
c.2841C>G (p.His947Gln)
3g.38725276G=CA1358640594SCN10Ac.3126C= (p.His1042=)
c.3123C= (p.His1041=)
c.3150C= (p.His1050=)
c.2832C= (p.His944=)
c.3135C= (p.His1045=)
c.3132C= (p.His1044=)
c.2841C= (p.His947=)
3g.38725276G>TCA352156775SCN10Ac.3126C>A (p.His1042Gln)
c.3123C>A (p.His1041Gln)
c.3150C>A (p.His1050Gln)
c.2832C>A (p.His944Gln)
c.3135C>A (p.His1045Gln)
c.3132C>A (p.His1044Gln)
c.2841C>A (p.His947Gln)
3g.38725276_38725277insACA1047001803SCN10Ac.3125_3126insT (p.Leu1043ProfsTer13)
c.3122_3123insT (p.Leu1042ProfsTer13)
c.3149_3150insT (p.Leu1051ProfsTer13)
c.2831_2832insT (p.Leu945ProfsTer13)
c.3134_3135insT (p.Leu1046ProfsTer13)
c.3131_3132insT (p.Leu1045ProfsTer13)
c.2840_2841insT (p.Leu948ProfsTer13)
dbSNP gnomAD v3 gnomAD v4
3g.38725277delCA2542928308SCN10Ac.3125del (p.His1042ProfsTer2)
c.3122del (p.His1041ProfsTer2)
c.3149del (p.His1050ProfsTer2)
c.2831del (p.His944ProfsTer2)
c.3134del (p.His1045ProfsTer2)
c.3131del (p.His1044ProfsTer2)
c.2840del (p.His947ProfsTer2)
3g.38725277T>ACA352156776SCN10Ac.3125A>T (p.His1042Leu)
c.3122A>T (p.His1041Leu)
c.3149A>T (p.His1050Leu)
c.2831A>T (p.His944Leu)
c.3134A>T (p.His1045Leu)
c.3131A>T (p.His1044Leu)
c.2840A>T (p.His947Leu)
3g.38725277T>CCA352156777SCN10Ac.3125A>G (p.His1042Arg)
c.3122A>G (p.His1041Arg)
c.3149A>G (p.His1050Arg)
c.2831A>G (p.His944Arg)
c.3134A>G (p.His1045Arg)
c.3131A>G (p.His1044Arg)
c.2840A>G (p.His947Arg)
3g.38725277T>GCA352156778SCN10Ac.3125A>C (p.His1042Pro)
c.3122A>C (p.His1041Pro)
c.3149A>C (p.His1050Pro)
c.2831A>C (p.His944Pro)
c.3134A>C (p.His1045Pro)
c.3131A>C (p.His1044Pro)
c.2840A>C (p.His947Pro)
3g.38725278G>ACA352156779SCN10Ac.3124C>T (p.His1042Tyr)
c.3121C>T (p.His1041Tyr)
c.3148C>T (p.His1050Tyr)
c.2830C>T (p.His944Tyr)
c.3133C>T (p.His1045Tyr)
c.3130C>T (p.His1044Tyr)
c.2839C>T (p.His947Tyr)
dbSNP gnomAD v4
3g.38725278G>CCA352156780SCN10Ac.3124C>G (p.His1042Asp)
c.3121C>G (p.His1041Asp)
c.3148C>G (p.His1050Asp)
c.2830C>G (p.His944Asp)
c.3133C>G (p.His1045Asp)
c.3130C>G (p.His1044Asp)
c.2839C>G (p.His947Asp)
3g.38725278G=CA1358640595SCN10Ac.3124C= (p.His1042=)
c.3121C= (p.His1041=)
c.3148C= (p.His1050=)
c.2830C= (p.His944=)
c.3133C= (p.His1045=)
c.3130C= (p.His1044=)
c.2839C= (p.His947=)
3g.38725278G>TCA352156781SCN10Ac.3124C>A (p.His1042Asn)
c.3121C>A (p.His1041Asn)
c.3148C>A (p.His1050Asn)
c.2830C>A (p.His944Asn)
c.3133C>A (p.His1045Asn)
c.3130C>A (p.His1044Asn)
c.2839C>A (p.His947Asn)
gnomAD v4
3g.38725279G>ACA2320346SCN10Ac.3123C>T (p.Asp1041=)
c.3120C>T (p.Asp1040=)
c.3147C>T (p.Asp1049=)
c.2829C>T (p.Asp943=)
c.3132C>T (p.Asp1044=)
c.3129C>T (p.Asp1043=)
c.2838C>T (p.Asp946=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725279G>CCA352156782SCN10Ac.3123C>G (p.Asp1041Glu)
c.3120C>G (p.Asp1040Glu)
c.3147C>G (p.Asp1049Glu)
c.2829C>G (p.Asp943Glu)
c.3132C>G (p.Asp1044Glu)
c.3129C>G (p.Asp1043Glu)
c.2838C>G (p.Asp946Glu)
3g.38725279G=CA1358640596SCN10Ac.3123C= (p.Asp1041=)
c.3120C= (p.Asp1040=)
c.3147C= (p.Asp1049=)
c.2829C= (p.Asp943=)
c.3132C= (p.Asp1044=)
c.3129C= (p.Asp1043=)
c.2838C= (p.Asp946=)
3g.38725279G>TCA352156783SCN10Ac.3123C>A (p.Asp1041Glu)
c.3120C>A (p.Asp1040Glu)
c.3147C>A (p.Asp1049Glu)
c.2829C>A (p.Asp943Glu)
c.3132C>A (p.Asp1044Glu)
c.3129C>A (p.Asp1043Glu)
c.2838C>A (p.Asp946Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38725280T>ACA352156785SCN10Ac.3122A>T (p.Asp1041Val)
c.3119A>T (p.Asp1040Val)
c.3146A>T (p.Asp1049Val)
c.2828A>T (p.Asp943Val)
c.3131A>T (p.Asp1044Val)
c.3128A>T (p.Asp1043Val)
c.2837A>T (p.Asp946Val)
3g.38725280T>CCA352156786SCN10Ac.3122A>G (p.Asp1041Gly)
c.3119A>G (p.Asp1040Gly)
c.3146A>G (p.Asp1049Gly)
c.2828A>G (p.Asp943Gly)
c.3131A>G (p.Asp1044Gly)
c.3128A>G (p.Asp1043Gly)
c.2837A>G (p.Asp946Gly)
gnomAD v4
3g.38725280T>GCA352156784SCN10Ac.3122A>C (p.Asp1041Ala)
c.3119A>C (p.Asp1040Ala)
c.3146A>C (p.Asp1049Ala)
c.2828A>C (p.Asp943Ala)
c.3131A>C (p.Asp1044Ala)
c.3128A>C (p.Asp1043Ala)
c.2837A>C (p.Asp946Ala)
3g.38725281C>ACA352156787SCN10Ac.3121G>T (p.Asp1041Tyr)
c.3118G>T (p.Asp1040Tyr)
c.3145G>T (p.Asp1049Tyr)
c.2827G>T (p.Asp943Tyr)
c.3130G>T (p.Asp1044Tyr)
c.3127G>T (p.Asp1043Tyr)
c.2836G>T (p.Asp946Tyr)
3g.38725281C>GCA352156788SCN10Ac.3121G>C (p.Asp1041His)
c.3118G>C (p.Asp1040His)
c.3145G>C (p.Asp1049His)
c.2827G>C (p.Asp943His)
c.3130G>C (p.Asp1044His)
c.3127G>C (p.Asp1043His)
c.2836G>C (p.Asp946His)
3g.38725281C>TCA352156789SCN10Ac.3121G>A (p.Asp1041Asn)
c.3118G>A (p.Asp1040Asn)
c.3145G>A (p.Asp1049Asn)
c.2827G>A (p.Asp943Asn)
c.3130G>A (p.Asp1044Asn)
c.3127G>A (p.Asp1043Asn)
c.2836G>A (p.Asp946Asn)
3g.38725284delCA2665099839SCN10Ac.3121del (p.Asp1041ThrfsTer3)
c.3118del (p.Asp1040ThrfsTer3)
c.3145del (p.Asp1049ThrfsTer3)
c.2827del (p.Asp943ThrfsTer3)
c.3130del (p.Asp1044ThrfsTer3)
c.3127del (p.Asp1043ThrfsTer3)
c.2836del (p.Asp946ThrfsTer3)
gnomAD v4
3g.38725282C>ACA433138544SCN10Ac.3120G>T (p.Gly1040=)
c.3117G>T (p.Gly1039=)
c.3144G>T (p.Gly1048=)
c.2826G>T (p.Gly942=)
c.3129G>T (p.Gly1043=)
c.3126G>T (p.Gly1042=)
c.2835G>T (p.Gly945=)
3g.38725282C=CA1358640597SCN10Ac.3120G= (p.Gly1040=)
c.3117G= (p.Gly1039=)
c.3144G= (p.Gly1048=)
c.2826G= (p.Gly942=)
c.3129G= (p.Gly1043=)
c.3126G= (p.Gly1042=)
c.2835G= (p.Gly945=)
3g.38725282C>GCA433138545SCN10Ac.3120G>C (p.Gly1040=)
c.3117G>C (p.Gly1039=)
c.3144G>C (p.Gly1048=)
c.2826G>C (p.Gly942=)
c.3129G>C (p.Gly1043=)
c.3126G>C (p.Gly1042=)
c.2835G>C (p.Gly945=)
3g.38725282C>TCA433138546SCN10Ac.3120G>A (p.Gly1040=)
c.3117G>A (p.Gly1039=)
c.3144G>A (p.Gly1048=)
c.2826G>A (p.Gly942=)
c.3129G>A (p.Gly1043=)
c.3126G>A (p.Gly1042=)
c.2835G>A (p.Gly945=)
gnomAD v4
3g.38725282_38725283insAGTGCA906865458SCN10Ac.3119_3120insCACT (p.Asp1041ThrfsTer16)
c.3116_3117insCACT (p.Asp1040ThrfsTer16)
c.3143_3144insCACT (p.Asp1049ThrfsTer16)
c.2825_2826insCACT (p.Asp943ThrfsTer16)
c.3128_3129insCACT (p.Asp1044ThrfsTer16)
c.3125_3126insCACT (p.Asp1043ThrfsTer16)
c.2834_2835insCACT (p.Asp946ThrfsTer16)
dbSNP gnomAD v3 gnomAD v4
3g.38725283C>ACA352156790SCN10Ac.3119G>T (p.Gly1040Val)
c.3116G>T (p.Gly1039Val)
c.3143G>T (p.Gly1048Val)
c.2825G>T (p.Gly942Val)
c.3128G>T (p.Gly1043Val)
c.3125G>T (p.Gly1042Val)
c.2834G>T (p.Gly945Val)
3g.38725283C=CA1358640598SCN10Ac.3119G= (p.Gly1040=)
c.3116G= (p.Gly1039=)
c.3143G= (p.Gly1048=)
c.2825G= (p.Gly942=)
c.3128G= (p.Gly1043=)
c.3125G= (p.Gly1042=)
c.2834G= (p.Gly945=)
3g.38725283C>GCA352156791SCN10Ac.3119G>C (p.Gly1040Ala)
c.3116G>C (p.Gly1039Ala)
c.3143G>C (p.Gly1048Ala)
c.2825G>C (p.Gly942Ala)
c.3128G>C (p.Gly1043Ala)
c.3125G>C (p.Gly1042Ala)
c.2834G>C (p.Gly945Ala)
3g.38725283C>TCA352156792SCN10Ac.3119G>A (p.Gly1040Glu)
c.3116G>A (p.Gly1039Glu)
c.3143G>A (p.Gly1048Glu)
c.2825G>A (p.Gly942Glu)
c.3128G>A (p.Gly1043Glu)
c.3125G>A (p.Gly1042Glu)
c.2834G>A (p.Gly945Glu)
dbSNP
3g.38725284C>ACA352156795SCN10Ac.3118G>T (p.Gly1040Trp)
c.3115G>T (p.Gly1039Trp)
c.3142G>T (p.Gly1048Trp)
c.2824G>T (p.Gly942Trp)
c.3127G>T (p.Gly1043Trp)
c.3124G>T (p.Gly1042Trp)
c.2833G>T (p.Gly945Trp)
gnomAD v4
3g.38725284C=CA1358640599SCN10Ac.3118G= (p.Gly1040=)
c.3115G= (p.Gly1039=)
c.3142G= (p.Gly1048=)
c.2824G= (p.Gly942=)
c.3127G= (p.Gly1043=)
c.3124G= (p.Gly1042=)
c.2833G= (p.Gly945=)
3g.38725284C>GCA352156793SCN10Ac.3118G>C (p.Gly1040Arg)
c.3115G>C (p.Gly1039Arg)
c.3142G>C (p.Gly1048Arg)
c.2824G>C (p.Gly942Arg)
c.3127G>C (p.Gly1043Arg)
c.3124G>C (p.Gly1042Arg)
c.2833G>C (p.Gly945Arg)
3g.38725284C>TCA352156794SCN10Ac.3118G>A (p.Gly1040Arg)
c.3115G>A (p.Gly1039Arg)
c.3142G>A (p.Gly1048Arg)
c.2824G>A (p.Gly942Arg)
c.3127G>A (p.Gly1043Arg)
c.3124G>A (p.Gly1042Arg)
c.2833G>A (p.Gly945Arg)
3g.38725284_38725285insTGGCA906865467SCN10Ac.3117_3118insCCA (p.Cys1039_Gly1040insPro)
c.3114_3115insCCA (p.Cys1038_Gly1039insPro)
c.3141_3142insCCA (p.Cys1047_Gly1048insPro)
c.2823_2824insCCA (p.Cys941_Gly942insPro)
c.3126_3127insCCA (p.Cys1042_Gly1043insPro)
c.3123_3124insCCA (p.Cys1041_Gly1042insPro)
c.2832_2833insCCA (p.Cys944_Gly945insPro)
dbSNP gnomAD v3 gnomAD v4
3g.38725285A>CCA352156796SCN10Ac.3117T>G (p.Cys1039Trp)
c.3114T>G (p.Cys1038Trp)
c.3141T>G (p.Cys1047Trp)
c.2823T>G (p.Cys941Trp)
c.3126T>G (p.Cys1042Trp)
c.3123T>G (p.Cys1041Trp)
c.2832T>G (p.Cys944Trp)
3g.38725285A>GCA433138552SCN10Ac.3117T>C (p.Cys1039=)
c.3114T>C (p.Cys1038=)
c.3141T>C (p.Cys1047=)
c.2823T>C (p.Cys941=)
c.3126T>C (p.Cys1042=)
c.3123T>C (p.Cys1041=)
c.2832T>C (p.Cys944=)
gnomAD v4
3g.38725285A>TCA352156797SCN10Ac.3117T>A (p.Cys1039Ter)
c.3114T>A (p.Cys1038Ter)
c.3141T>A (p.Cys1047Ter)
c.2823T>A (p.Cys941Ter)
c.3126T>A (p.Cys1042Ter)
c.3123T>A (p.Cys1041Ter)
c.2832T>A (p.Cys944Ter)
3g.38725286C>ACA352156798SCN10Ac.3116G>T (p.Cys1039Phe)
c.3113G>T (p.Cys1038Phe)
c.3140G>T (p.Cys1047Phe)
c.2822G>T (p.Cys941Phe)
c.3125G>T (p.Cys1042Phe)
c.3122G>T (p.Cys1041Phe)
c.2831G>T (p.Cys944Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38725286C=CA1358640600SCN10Ac.3116G= (p.Cys1039=)
c.3113G= (p.Cys1038=)
c.3140G= (p.Cys1047=)
c.2822G= (p.Cys941=)
c.3125G= (p.Cys1042=)
c.3122G= (p.Cys1041=)
c.2831G= (p.Cys944=)
3g.38725286C>GCA352156799SCN10Ac.3116G>C (p.Cys1039Ser)
c.3113G>C (p.Cys1038Ser)
c.3140G>C (p.Cys1047Ser)
c.2822G>C (p.Cys941Ser)
c.3125G>C (p.Cys1042Ser)
c.3122G>C (p.Cys1041Ser)
c.2831G>C (p.Cys944Ser)
dbSNP gnomAD v2 gnomAD v4
3g.38725286C>TCA2320347SCN10Ac.3116G>A (p.Cys1039Tyr)
c.3113G>A (p.Cys1038Tyr)
c.3140G>A (p.Cys1047Tyr)
c.2822G>A (p.Cys941Tyr)
c.3125G>A (p.Cys1042Tyr)
c.3122G>A (p.Cys1041Tyr)
c.2831G>A (p.Cys944Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725287A>CCA352156800SCN10Ac.3115T>G (p.Cys1039Gly)
c.3112T>G (p.Cys1038Gly)
c.3139T>G (p.Cys1047Gly)
c.2821T>G (p.Cys941Gly)
c.3124T>G (p.Cys1042Gly)
c.3121T>G (p.Cys1041Gly)
c.2830T>G (p.Cys944Gly)
3g.38725287A>GCA352156802SCN10Ac.3115T>C (p.Cys1039Arg)
c.3112T>C (p.Cys1038Arg)
c.3139T>C (p.Cys1047Arg)
c.2821T>C (p.Cys941Arg)
c.3124T>C (p.Cys1042Arg)
c.3121T>C (p.Cys1041Arg)
c.2830T>C (p.Cys944Arg)
3g.38725287A>TCA352156801SCN10Ac.3115T>A (p.Cys1039Ser)
c.3112T>A (p.Cys1038Ser)
c.3139T>A (p.Cys1047Ser)
c.2821T>A (p.Cys941Ser)
c.3124T>A (p.Cys1042Ser)
c.3121T>A (p.Cys1041Ser)
c.2830T>A (p.Cys944Ser)
3g.38725288C>ACA2320348SCN10Ac.3114G>T (p.Arg1038Ser)
c.3111G>T (p.Arg1037Ser)
c.3138G>T (p.Arg1046Ser)
c.2820G>T (p.Arg940Ser)
c.3123G>T (p.Arg1041Ser)
c.3120G>T (p.Arg1040Ser)
c.2829G>T (p.Arg943Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725288C=CA1358640601SCN10Ac.3114G= (p.Arg1038=)
c.3111G= (p.Arg1037=)
c.3138G= (p.Arg1046=)
c.2820G= (p.Arg940=)
c.3123G= (p.Arg1041=)
c.3120G= (p.Arg1040=)
c.2829G= (p.Arg943=)
3g.38725288C>GCA352156803SCN10Ac.3114G>C (p.Arg1038Ser)
c.3111G>C (p.Arg1037Ser)
c.3138G>C (p.Arg1046Ser)
c.2820G>C (p.Arg940Ser)
c.3123G>C (p.Arg1041Ser)
c.3120G>C (p.Arg1040Ser)
c.2829G>C (p.Arg943Ser)
3g.38725288C>TCA433138555SCN10Ac.3114G>A (p.Arg1038=)
c.3111G>A (p.Arg1037=)
c.3138G>A (p.Arg1046=)
c.2820G>A (p.Arg940=)
c.3123G>A (p.Arg1041=)
c.3120G>A (p.Arg1040=)
c.2829G>A (p.Arg943=)
ClinVar dbSNP gnomAD v4
3g.38725289C>ACA352156804SCN10Ac.3113G>T (p.Arg1038Met)
c.3110G>T (p.Arg1037Met)
c.3137G>T (p.Arg1046Met)
c.2819G>T (p.Arg940Met)
c.3122G>T (p.Arg1041Met)
c.3119G>T (p.Arg1040Met)
c.2828G>T (p.Arg943Met)
gnomAD v4
3g.38725289C>GCA352156805SCN10Ac.3113G>C (p.Arg1038Thr)
c.3110G>C (p.Arg1037Thr)
c.3137G>C (p.Arg1046Thr)
c.2819G>C (p.Arg940Thr)
c.3122G>C (p.Arg1041Thr)
c.3119G>C (p.Arg1040Thr)
c.2828G>C (p.Arg943Thr)
3g.38725289C>TCA352156806SCN10Ac.3113G>A (p.Arg1038Lys)
c.3110G>A (p.Arg1037Lys)
c.3137G>A (p.Arg1046Lys)
c.2819G>A (p.Arg940Lys)
c.3122G>A (p.Arg1041Lys)
c.3119G>A (p.Arg1040Lys)
c.2828G>A (p.Arg943Lys)
3g.38725290T>ACA352156807SCN10Ac.3112A>T (p.Arg1038Trp)
c.3109A>T (p.Arg1037Trp)
c.3136A>T (p.Arg1046Trp)
c.2818A>T (p.Arg940Trp)
c.3121A>T (p.Arg1041Trp)
c.3118A>T (p.Arg1040Trp)
c.2827A>T (p.Arg943Trp)
dbSNP gnomAD v2 gnomAD v4
3g.38725290T>CCA352156808SCN10Ac.3112A>G (p.Arg1038Gly)
c.3109A>G (p.Arg1037Gly)
c.3136A>G (p.Arg1046Gly)
c.2818A>G (p.Arg940Gly)
c.3121A>G (p.Arg1041Gly)
c.3118A>G (p.Arg1040Gly)
c.2827A>G (p.Arg943Gly)
gnomAD v4
3g.38725290T>GCA433138558SCN10Ac.3112A>C (p.Arg1038=)
c.3109A>C (p.Arg1037=)
c.3136A>C (p.Arg1046=)
c.2818A>C (p.Arg940=)
c.3121A>C (p.Arg1041=)
c.3118A>C (p.Arg1040=)
c.2827A>C (p.Arg943=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725290T=CA1358640602SCN10Ac.3112A= (p.Arg1038=)
c.3109A= (p.Arg1037=)
c.3136A= (p.Arg1046=)
c.2818A= (p.Arg940=)
c.3121A= (p.Arg1041=)
c.3118A= (p.Arg1040=)
c.2827A= (p.Arg943=)
3g.38725291C>ACA352156809SCN10Ac.3111G>T (p.Glu1037Asp)
c.3108G>T (p.Glu1036Asp)
c.3135G>T (p.Glu1045Asp)
c.2817G>T (p.Glu939Asp)
c.3120G>T (p.Glu1040Asp)
c.3117G>T (p.Glu1039Asp)
c.2826G>T (p.Glu942Asp)
gnomAD v4
3g.38725291C>GCA352156810SCN10Ac.3111G>C (p.Glu1037Asp)
c.3108G>C (p.Glu1036Asp)
c.3135G>C (p.Glu1045Asp)
c.2817G>C (p.Glu939Asp)
c.3120G>C (p.Glu1040Asp)
c.3117G>C (p.Glu1039Asp)
c.2826G>C (p.Glu942Asp)
3g.38725291C>TCA433138559SCN10Ac.3111G>A (p.Glu1037=)
c.3108G>A (p.Glu1036=)
c.3135G>A (p.Glu1045=)
c.2817G>A (p.Glu939=)
c.3120G>A (p.Glu1040=)
c.3117G>A (p.Glu1039=)
c.2826G>A (p.Glu942=)
3g.38725292T>ACA352156811SCN10Ac.3110A>T (p.Glu1037Val)
c.3107A>T (p.Glu1036Val)
c.3134A>T (p.Glu1045Val)
c.2816A>T (p.Glu939Val)
c.3119A>T (p.Glu1040Val)
c.3116A>T (p.Glu1039Val)
c.2825A>T (p.Glu942Val)
3g.38725292T>CCA352156812SCN10Ac.3110A>G (p.Glu1037Gly)
c.3107A>G (p.Glu1036Gly)
c.3134A>G (p.Glu1045Gly)
c.2816A>G (p.Glu939Gly)
c.3119A>G (p.Glu1040Gly)
c.3116A>G (p.Glu1039Gly)
c.2825A>G (p.Glu942Gly)
gnomAD v4
3g.38725292T>GCA352156813SCN10Ac.3110A>C (p.Glu1037Ala)
c.3107A>C (p.Glu1036Ala)
c.3134A>C (p.Glu1045Ala)
c.2816A>C (p.Glu939Ala)
c.3119A>C (p.Glu1040Ala)
c.3116A>C (p.Glu1039Ala)
c.2825A>C (p.Glu942Ala)
3g.38725293C>ACA352156814SCN10Ac.3109G>T (p.Glu1037Ter)
c.3106G>T (p.Glu1036Ter)
c.3133G>T (p.Glu1045Ter)
c.2815G>T (p.Glu939Ter)
c.3118G>T (p.Glu1040Ter)
c.3115G>T (p.Glu1039Ter)
c.2824G>T (p.Glu942Ter)
gnomAD v4
3g.38725293C=CA1358640603SCN10Ac.3109G= (p.Glu1037=)
c.3106G= (p.Glu1036=)
c.3133G= (p.Glu1045=)
c.2815G= (p.Glu939=)
c.3118G= (p.Glu1040=)
c.3115G= (p.Glu1039=)
c.2824G= (p.Glu942=)
3g.38725293C>GCA352156815SCN10Ac.3109G>C (p.Glu1037Gln)
c.3106G>C (p.Glu1036Gln)
c.3133G>C (p.Glu1045Gln)
c.2815G>C (p.Glu939Gln)
c.3118G>C (p.Glu1040Gln)
c.3115G>C (p.Glu1039Gln)
c.2824G>C (p.Glu942Gln)
3g.38725293C>TCA2320349SCN10Ac.3109G>A (p.Glu1037Lys)
c.3106G>A (p.Glu1036Lys)
c.3133G>A (p.Glu1045Lys)
c.2815G>A (p.Glu939Lys)
c.3118G>A (p.Glu1040Lys)
c.3115G>A (p.Glu1039Lys)
c.2824G>A (p.Glu942Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725294G>ACA72959641SCN10Ac.3108C>T (p.Val1036=)
c.3105C>T (p.Val1035=)
c.3132C>T (p.Val1044=)
c.2814C>T (p.Val938=)
c.3117C>T (p.Val1039=)
c.3114C>T (p.Val1038=)
c.2823C>T (p.Val941=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38725294G>CCA433138562SCN10Ac.3108C>G (p.Val1036=)
c.3105C>G (p.Val1035=)
c.3132C>G (p.Val1044=)
c.2814C>G (p.Val938=)
c.3117C>G (p.Val1039=)
c.3114C>G (p.Val1038=)
c.2823C>G (p.Val941=)
3g.38725294G=CA1358640604SCN10Ac.3108C= (p.Val1036=)
c.3105C= (p.Val1035=)
c.3132C= (p.Val1044=)
c.2814C= (p.Val938=)
c.3117C= (p.Val1039=)
c.3114C= (p.Val1038=)
c.2823C= (p.Val941=)
3g.38725294G>TCA433138564SCN10Ac.3108C>A (p.Val1036=)
c.3105C>A (p.Val1035=)
c.3132C>A (p.Val1044=)
c.2814C>A (p.Val938=)
c.3117C>A (p.Val1039=)
c.3114C>A (p.Val1038=)
c.2823C>A (p.Val941=)
gnomAD v4
3g.38725295A>CCA352156816SCN10Ac.3107T>G (p.Val1036Gly)
c.3104T>G (p.Val1035Gly)
c.3131T>G (p.Val1044Gly)
c.2813T>G (p.Val938Gly)
c.3116T>G (p.Val1039Gly)
c.3113T>G (p.Val1038Gly)
c.2822T>G (p.Val941Gly)
3g.38725295A>GCA352156817SCN10Ac.3107T>C (p.Val1036Ala)
c.3104T>C (p.Val1035Ala)
c.3131T>C (p.Val1044Ala)
c.2813T>C (p.Val938Ala)
c.3116T>C (p.Val1039Ala)
c.3113T>C (p.Val1038Ala)
c.2822T>C (p.Val941Ala)
gnomAD v4
3g.38725295A>TCA352156818SCN10Ac.3107T>A (p.Val1036Asp)
c.3104T>A (p.Val1035Asp)
c.3131T>A (p.Val1044Asp)
c.2813T>A (p.Val938Asp)
c.3116T>A (p.Val1039Asp)
c.3113T>A (p.Val1038Asp)
c.2822T>A (p.Val941Asp)
gnomAD v4 COSMIC
3g.38725296C>ACA352156819SCN10Ac.3106G>T (p.Val1036Phe)
c.3103G>T (p.Val1035Phe)
c.3130G>T (p.Val1044Phe)
c.2812G>T (p.Val938Phe)
c.3115G>T (p.Val1039Phe)
c.3112G>T (p.Val1038Phe)
c.2821G>T (p.Val941Phe)
gnomAD v4
3g.38725296C>GCA352156820SCN10Ac.3106G>C (p.Val1036Leu)
c.3103G>C (p.Val1035Leu)
c.3130G>C (p.Val1044Leu)
c.2812G>C (p.Val938Leu)
c.3115G>C (p.Val1039Leu)
c.3112G>C (p.Val1038Leu)
c.2821G>C (p.Val941Leu)
3g.38725296C>TCA352156821SCN10Ac.3106G>A (p.Val1036Ile)
c.3103G>A (p.Val1035Ile)
c.3130G>A (p.Val1044Ile)
c.2812G>A (p.Val938Ile)
c.3115G>A (p.Val1039Ile)
c.3112G>A (p.Val1038Ile)
c.2821G>A (p.Val941Ile)
gnomAD v4
3g.38725297T>ACA352156823SCN10Ac.3105A>T (p.Gln1035His)
c.3102A>T (p.Gln1034His)
c.3129A>T (p.Gln1043His)
c.2811A>T (p.Gln937His)
c.3114A>T (p.Gln1038His)
c.3111A>T (p.Gln1037His)
c.2820A>T (p.Gln940His)
3g.38725297T>CCA433138567SCN10Ac.3105A>G (p.Gln1035=)
c.3102A>G (p.Gln1034=)
c.3129A>G (p.Gln1043=)
c.2811A>G (p.Gln937=)
c.3114A>G (p.Gln1038=)
c.3111A>G (p.Gln1037=)
c.2820A>G (p.Gln940=)
gnomAD v4
3g.38725297T>GCA352156822SCN10Ac.3105A>C (p.Gln1035His)
c.3102A>C (p.Gln1034His)
c.3129A>C (p.Gln1043His)
c.2811A>C (p.Gln937His)
c.3114A>C (p.Gln1038His)
c.3111A>C (p.Gln1037His)
c.2820A>C (p.Gln940His)
3g.38725298T>ACA352156824SCN10Ac.3104A>T (p.Gln1035Leu)
c.3101A>T (p.Gln1034Leu)
c.3128A>T (p.Gln1043Leu)
c.2810A>T (p.Gln937Leu)
c.3113A>T (p.Gln1038Leu)
c.3110A>T (p.Gln1037Leu)
c.2819A>T (p.Gln940Leu)
3g.38725298T>CCA352156825SCN10Ac.3104A>G (p.Gln1035Arg)
c.3101A>G (p.Gln1034Arg)
c.3128A>G (p.Gln1043Arg)
c.2810A>G (p.Gln937Arg)
c.3113A>G (p.Gln1038Arg)
c.3110A>G (p.Gln1037Arg)
c.2819A>G (p.Gln940Arg)
gnomAD v4
3g.38725298T>GCA352156826SCN10Ac.3104A>C (p.Gln1035Pro)
c.3101A>C (p.Gln1034Pro)
c.3128A>C (p.Gln1043Pro)
c.2810A>C (p.Gln937Pro)
c.3113A>C (p.Gln1038Pro)
c.3110A>C (p.Gln1037Pro)
c.2819A>C (p.Gln940Pro)
3g.38725299G>ACA352156827SCN10Ac.3103C>T (p.Gln1035Ter)
c.3100C>T (p.Gln1034Ter)
c.3127C>T (p.Gln1043Ter)
c.2809C>T (p.Gln937Ter)
c.3112C>T (p.Gln1038Ter)
c.3109C>T (p.Gln1037Ter)
c.2818C>T (p.Gln940Ter)
gnomAD v4
3g.38725299G>CCA352156828SCN10Ac.3103C>G (p.Gln1035Glu)
c.3100C>G (p.Gln1034Glu)
c.3127C>G (p.Gln1043Glu)
c.2809C>G (p.Gln937Glu)
c.3112C>G (p.Gln1038Glu)
c.3109C>G (p.Gln1037Glu)
c.2818C>G (p.Gln940Glu)
3g.38725299G>TCA352156829SCN10Ac.3103C>A (p.Gln1035Lys)
c.3100C>A (p.Gln1034Lys)
c.3127C>A (p.Gln1043Lys)
c.2809C>A (p.Gln937Lys)
c.3112C>A (p.Gln1038Lys)
c.3109C>A (p.Gln1037Lys)
c.2818C>A (p.Gln940Lys)
3g.38725300C>ACA352156830SCN10Ac.3102G>T (p.Gln1034His)
c.3099G>T (p.Gln1033His)
c.3126G>T (p.Gln1042His)
c.2808G>T (p.Gln936His)
c.3111G>T (p.Gln1037His)
c.3108G>T (p.Gln1036His)
c.2817G>T (p.Gln939His)
gnomAD v4
3g.38725300C=CA1358640605SCN10Ac.3102G= (p.Gln1034=)
c.3099G= (p.Gln1033=)
c.3126G= (p.Gln1042=)
c.2808G= (p.Gln936=)
c.3111G= (p.Gln1037=)
c.3108G= (p.Gln1036=)
c.2817G= (p.Gln939=)
3g.38725300C>GCA352156831SCN10Ac.3102G>C (p.Gln1034His)
c.3099G>C (p.Gln1033His)
c.3126G>C (p.Gln1042His)
c.2808G>C (p.Gln936His)
c.3111G>C (p.Gln1037His)
c.3108G>C (p.Gln1036His)
c.2817G>C (p.Gln939His)
3g.38725300C>TCA2320350SCN10Ac.3102G>A (p.Gln1034=)
c.3099G>A (p.Gln1033=)
c.3126G>A (p.Gln1042=)
c.2808G>A (p.Gln936=)
c.3111G>A (p.Gln1037=)
c.3108G>A (p.Gln1036=)
c.2817G>A (p.Gln939=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725301T>ACA352156832SCN10Ac.3101A>T (p.Gln1034Leu)
c.3098A>T (p.Gln1033Leu)
c.3125A>T (p.Gln1042Leu)
c.2807A>T (p.Gln936Leu)
c.3110A>T (p.Gln1037Leu)
c.3107A>T (p.Gln1036Leu)
c.2816A>T (p.Gln939Leu)
3g.38725301T>CCA352156833SCN10Ac.3101A>G (p.Gln1034Arg)
c.3098A>G (p.Gln1033Arg)
c.3125A>G (p.Gln1042Arg)
c.2807A>G (p.Gln936Arg)
c.3110A>G (p.Gln1037Arg)
c.3107A>G (p.Gln1036Arg)
c.2816A>G (p.Gln939Arg)
3g.38725301T>GCA352156834SCN10Ac.3101A>C (p.Gln1034Pro)
c.3098A>C (p.Gln1033Pro)
c.3125A>C (p.Gln1042Pro)
c.2807A>C (p.Gln936Pro)
c.3110A>C (p.Gln1037Pro)
c.3107A>C (p.Gln1036Pro)
c.2816A>C (p.Gln939Pro)
3g.38725302G>ACA352156835SCN10Ac.3100C>T (p.Gln1034Ter)
c.3097C>T (p.Gln1033Ter)
c.3124C>T (p.Gln1042Ter)
c.2806C>T (p.Gln936Ter)
c.3109C>T (p.Gln1037Ter)
c.3106C>T (p.Gln1036Ter)
c.2815C>T (p.Gln939Ter)
gnomAD v4
3g.38725302G>CCA352156836SCN10Ac.3100C>G (p.Gln1034Glu)
c.3097C>G (p.Gln1033Glu)
c.3124C>G (p.Gln1042Glu)
c.2806C>G (p.Gln936Glu)
c.3109C>G (p.Gln1037Glu)
c.3106C>G (p.Gln1036Glu)
c.2815C>G (p.Gln939Glu)
3g.38725302G>TCA352156837SCN10Ac.3100C>A (p.Gln1034Lys)
c.3097C>A (p.Gln1033Lys)
c.3124C>A (p.Gln1042Lys)
c.2806C>A (p.Gln936Lys)
c.3109C>A (p.Gln1037Lys)
c.3106C>A (p.Gln1036Lys)
c.2815C>A (p.Gln939Lys)
3g.38725303C>ACA433138571SCN10Ac.3099G>T (p.Leu1033=)
c.3096G>T (p.Leu1032=)
c.3123G>T (p.Leu1041=)
c.2805G>T (p.Leu935=)
c.3108G>T (p.Leu1036=)
c.3105G>T (p.Leu1035=)
c.2814G>T (p.Leu938=)
gnomAD v4
3g.38725303C>GCA433138572SCN10Ac.3099G>C (p.Leu1033=)
c.3096G>C (p.Leu1032=)
c.3123G>C (p.Leu1041=)
c.2805G>C (p.Leu935=)
c.3108G>C (p.Leu1036=)
c.3105G>C (p.Leu1035=)
c.2814G>C (p.Leu938=)
3g.38725303C>TCA433138573SCN10Ac.3099G>A (p.Leu1033=)
c.3096G>A (p.Leu1032=)
c.3123G>A (p.Leu1041=)
c.2805G>A (p.Leu935=)
c.3108G>A (p.Leu1036=)
c.3105G>A (p.Leu1035=)
c.2814G>A (p.Leu938=)
3g.38725304A=CA1358640606SCN10Ac.3098T= (p.Leu1033=)
c.3095T= (p.Leu1032=)
c.3122T= (p.Leu1041=)
c.2804T= (p.Leu935=)
c.3107T= (p.Leu1036=)
c.3104T= (p.Leu1035=)
c.2813T= (p.Leu938=)
3g.38725304A>CCA352156838SCN10Ac.3098T>G (p.Leu1033Arg)
c.3095T>G (p.Leu1032Arg)
c.3122T>G (p.Leu1041Arg)
c.2804T>G (p.Leu935Arg)
c.3107T>G (p.Leu1036Arg)
c.3104T>G (p.Leu1035Arg)
c.2813T>G (p.Leu938Arg)
3g.38725304A>GCA352156839SCN10Ac.3098T>C (p.Leu1033Pro)
c.3095T>C (p.Leu1032Pro)
c.3122T>C (p.Leu1041Pro)
c.2804T>C (p.Leu935Pro)
c.3107T>C (p.Leu1036Pro)
c.3104T>C (p.Leu1035Pro)
c.2813T>C (p.Leu938Pro)
gnomAD v4
3g.38725304A>TCA2320351SCN10Ac.3098T>A (p.Leu1033Gln)
c.3095T>A (p.Leu1032Gln)
c.3122T>A (p.Leu1041Gln)
c.2804T>A (p.Leu935Gln)
c.3107T>A (p.Leu1036Gln)
c.3104T>A (p.Leu1035Gln)
c.2813T>A (p.Leu938Gln)
ClinVar dbSNP ExAC gnomAD v2
3g.38725305G>ACA433138575SCN10Ac.3097C>T (p.Leu1033=)
c.3094C>T (p.Leu1032=)
c.3121C>T (p.Leu1041=)
c.2803C>T (p.Leu935=)
c.3106C>T (p.Leu1036=)
c.3103C>T (p.Leu1035=)
c.2812C>T (p.Leu938=)
gnomAD v4
3g.38725305G>CCA352156840SCN10Ac.3097C>G (p.Leu1033Val)
c.3094C>G (p.Leu1032Val)
c.3121C>G (p.Leu1041Val)
c.2803C>G (p.Leu935Val)
c.3106C>G (p.Leu1036Val)
c.3103C>G (p.Leu1035Val)
c.2812C>G (p.Leu938Val)
3g.38725305G>TCA352156841SCN10Ac.3097C>A (p.Leu1033Met)
c.3094C>A (p.Leu1032Met)
c.3121C>A (p.Leu1041Met)
c.2803C>A (p.Leu935Met)
c.3106C>A (p.Leu1036Met)
c.3103C>A (p.Leu1035Met)
c.2812C>A (p.Leu938Met)
3g.38725306C>ACA352156843SCN10Ac.3096G>T (p.Gln1032His)
c.3093G>T (p.Gln1031His)
c.3120G>T (p.Gln1040His)
c.2802G>T (p.Gln934His)
c.3105G>T (p.Gln1035His)
c.3102G>T (p.Gln1034His)
c.2811G>T (p.Gln937His)
gnomAD v4
3g.38725306C>GCA352156842SCN10Ac.3096G>C (p.Gln1032His)
c.3093G>C (p.Gln1031His)
c.3120G>C (p.Gln1040His)
c.2802G>C (p.Gln934His)
c.3105G>C (p.Gln1035His)
c.3102G>C (p.Gln1034His)
c.2811G>C (p.Gln937His)
3g.38725306C>TCA433138576SCN10Ac.3096G>A (p.Gln1032=)
c.3093G>A (p.Gln1031=)
c.3120G>A (p.Gln1040=)
c.2802G>A (p.Gln934=)
c.3105G>A (p.Gln1035=)
c.3102G>A (p.Gln1034=)
c.2811G>A (p.Gln937=)
gnomAD v4
3g.38725306_38725307delinsCTCA1358640607SCN10Ac.3095_3096delinsAG (p.Gln1032=)
c.3092_3093delinsAG (p.Gln1031=)
c.3119_3120delinsAG (p.Gln1040=)
c.2801_2802delinsAG (p.Gln934=)
c.3104_3105delinsAG (p.Gln1035=)
c.3101_3102delinsAG (p.Gln1034=)
c.2810_2811delinsAG (p.Gln937=)

Number of alleles fetched