Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990845_214990945delCA913089815ABCA12c.3381_3481del (p.Ile1128GlufsTer?)
c.2427_2527del (p.Ile810GlufsTer?)
n.3681_3781del
n.3879_3979del
 ClinVar
2g.214990924C>ACA350469326ABCA12c.3402G>T (p.Lys1134Asn)
c.2448G>T (p.Lys816Asn)
n.3702G>T
n.3900G>T
2g.214990924C=CA1327165399ABCA12c.3402G= (p.Lys1134=)
c.2448G= (p.Lys816=)
n.3702G=
n.3900G=
2g.214990924C>GCA350469328ABCA12c.3402G>C (p.Lys1134Asn)
c.2448G>C (p.Lys816Asn)
n.3702G>C
n.3900G>C
 dbSNP gnomAD v3 gnomAD v4
2g.214990924C>TCA431388241ABCA12c.3402G>A (p.Lys1134=)
c.2448G>A (p.Lys816=)
n.3702G>A
n.3900G>A
2g.214990925T>ACA350469330ABCA12c.3401A>T (p.Lys1134Met)
c.2447A>T (p.Lys816Met)
n.3701A>T
n.3899A>T
2g.214990925T>CCA350469332ABCA12c.3401A>G (p.Lys1134Arg)
c.2447A>G (p.Lys816Arg)
n.3701A>G
n.3899A>G
 gnomAD v4
2g.214990925T>GCA350469334ABCA12c.3401A>C (p.Lys1134Thr)
c.2447A>C (p.Lys816Thr)
n.3701A>C
n.3899A>C
 COSMIC COSMIC
2g.214990926T>ACA350469337ABCA12c.3400A>T (p.Lys1134Ter)
c.2446A>T (p.Lys816Ter)
n.3700A>T
n.3898A>T
2g.214990926T>CCA350469339ABCA12c.3400A>G (p.Lys1134Glu)
c.2446A>G (p.Lys816Glu)
n.3700A>G
n.3898A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990926T>GCA350469340ABCA12c.3400A>C (p.Lys1134Gln)
c.2446A>C (p.Lys816Gln)
n.3700A>C
n.3898A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990926T=CA1327165400ABCA12c.3400A= (p.Lys1134=)
c.2446A= (p.Lys816=)
n.3700A=
n.3898A=
2g.214990927G>ACA431388250ABCA12c.3399C>T (p.Leu1133=)
c.2445C>T (p.Leu815=)
n.3699C>T
n.3897C>T
2g.214990927G>CCA431388252ABCA12c.3399C>G (p.Leu1133=)
c.2445C>G (p.Leu815=)
n.3699C>G
n.3897C>G
 gnomAD v4
2g.214990927G>TCA431388254ABCA12c.3399C>A (p.Leu1133=)
c.2445C>A (p.Leu815=)
n.3699C>A
n.3897C>A
2g.214990928A>CCA350469343ABCA12c.3398T>G (p.Leu1133Arg)
c.2444T>G (p.Leu815Arg)
n.3698T>G
n.3896T>G
2g.214990928A>GCA350469344ABCA12c.3398T>C (p.Leu1133Pro)
c.2444T>C (p.Leu815Pro)
n.3698T>C
n.3896T>C
2g.214990928A>TCA350469346ABCA12c.3398T>A (p.Leu1133His)
c.2444T>A (p.Leu815His)
n.3698T>A
n.3896T>A
2g.214990929G>ACA350469350ABCA12c.3397C>T (p.Leu1133Phe)
c.2443C>T (p.Leu815Phe)
n.3697C>T
n.3895C>T
 COSMIC COSMIC
2g.214990929G>CCA350469352ABCA12c.3397C>G (p.Leu1133Val)
c.2443C>G (p.Leu815Val)
n.3697C>G
n.3895C>G
2g.214990929G>TCA350469349ABCA12c.3397C>A (p.Leu1133Ile)
c.2443C>A (p.Leu815Ile)
n.3697C>A
n.3895C>A
2g.214990930T>ACA431388260ABCA12c.3396A>T (p.Ile1132=)
c.2442A>T (p.Ile814=)
n.3696A>T
n.3894A>T
2g.214990930T>CCA350469355ABCA12c.3396A>G (p.Ile1132Met)
c.2442A>G (p.Ile814Met)
n.3696A>G
n.3894A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990930T>GCA431388265ABCA12c.3396A>C (p.Ile1132=)
c.2442A>C (p.Ile814=)
n.3696A>C
n.3894A>C
 gnomAD v4
2g.214990930T=CA1327165401ABCA12c.3396A= (p.Ile1132=)
c.2442A= (p.Ile814=)
n.3696A=
n.3894A=
2g.214990931A=CA1327165402ABCA12c.3395T= (p.Ile1132=)
c.2441T= (p.Ile814=)
n.3695T=
n.3893T=
2g.214990931A>CCA350469357ABCA12c.3395T>G (p.Ile1132Arg)
c.2441T>G (p.Ile814Arg)
n.3695T>G
n.3893T>G
2g.214990931A>GCA2091737ABCA12c.3395T>C (p.Ile1132Thr)
c.2441T>C (p.Ile814Thr)
n.3695T>C
n.3893T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990931A>TCA350469361ABCA12c.3395T>A (p.Ile1132Lys)
c.2441T>A (p.Ile814Lys)
n.3695T>A
n.3893T>A
2g.214990932T>ACA350469364ABCA12c.3394A>T (p.Ile1132Leu)
c.2440A>T (p.Ile814Leu)
n.3694A>T
n.3892A>T
2g.214990932T>CCA350469366ABCA12c.3394A>G (p.Ile1132Val)
c.2440A>G (p.Ile814Val)
n.3694A>G
n.3892A>G
2g.214990932T>GCA350469368ABCA12c.3394A>C (p.Ile1132Leu)
c.2440A>C (p.Ile814Leu)
n.3694A>C
n.3892A>C
2g.214990933A>CCA350469370ABCA12c.3393T>G (p.Ile1131Met)
c.2439T>G (p.Ile813Met)
n.3693T>G
n.3891T>G
2g.214990933A>GCA431388289ABCA12c.3393T>C (p.Ile1131=)
c.2439T>C (p.Ile813=)
n.3693T>C
n.3891T>C
2g.214990933A>TCA431388291ABCA12c.3393T>A (p.Ile1131=)
c.2439T>A (p.Ile813=)
n.3693T>A
n.3891T>A
2g.214990934A>CCA350469372ABCA12c.3392T>G (p.Ile1131Ser)
c.2438T>G (p.Ile813Ser)
n.3692T>G
n.3890T>G
 dbSNP
2g.214990934A>GCA350469373ABCA12c.3392T>C (p.Ile1131Thr)
c.2438T>C (p.Ile813Thr)
n.3692T>C
n.3890T>C
2g.214990934A>TCA350469376ABCA12c.3392T>A (p.Ile1131Asn)
c.2438T>A (p.Ile813Asn)
n.3692T>A
n.3890T>A
2g.214990935T>ACA350469379ABCA12c.3391A>T (p.Ile1131Phe)
c.2437A>T (p.Ile813Phe)
n.3691A>T
n.3889A>T
2g.214990935T>CCA350469381ABCA12c.3391A>G (p.Ile1131Val)
c.2437A>G (p.Ile813Val)
n.3691A>G
n.3889A>G
 dbSNP gnomAD v4
2g.214990935T>GCA350469383ABCA12c.3391A>C (p.Ile1131Leu)
c.2437A>C (p.Ile813Leu)
n.3691A>C
n.3889A>C
2g.214990935T=CA1327165403ABCA12c.3391A= (p.Ile1131=)
c.2437A= (p.Ile813=)
n.3691A=
n.3889A=
2g.214990936G>ACA431388299ABCA12c.3390C>T (p.Ile1130=)
c.2436C>T (p.Ile812=)
n.3690C>T
n.3888C>T
 COSMIC COSMIC
2g.214990936G>CCA350469384ABCA12c.3390C>G (p.Ile1130Met)
c.2436C>G (p.Ile812Met)
n.3690C>G
n.3888C>G
2g.214990936G=CA1327165404ABCA12c.3390C= (p.Ile1130=)
c.2436C= (p.Ile812=)
n.3690C=
n.3888C=
2g.214990936G>TCA2091738ABCA12c.3390C>A (p.Ile1130=)
c.2436C>A (p.Ile812=)
n.3690C>A
n.3888C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990937A=CA1327165405ABCA12c.3389T= (p.Ile1130=)
c.2435T= (p.Ile812=)
n.3689T=
n.3887T=
2g.214990937A>CCA350469386ABCA12c.3389T>G (p.Ile1130Ser)
c.2435T>G (p.Ile812Ser)
n.3689T>G
n.3887T>G
2g.214990937A>GCA350469388ABCA12c.3389T>C (p.Ile1130Thr)
c.2435T>C (p.Ile812Thr)
n.3689T>C
n.3887T>C
 dbSNP
2g.214990937A>TCA350469391ABCA12c.3389T>A (p.Ile1130Asn)
c.2435T>A (p.Ile812Asn)
n.3689T>A
n.3887T>A
2g.214990938T>ACA350469394ABCA12c.3388A>T (p.Ile1130Phe)
c.2434A>T (p.Ile812Phe)
n.3688A>T
n.3886A>T
 dbSNP
2g.214990938T>CCA350469396ABCA12c.3388A>G (p.Ile1130Val)
c.2434A>G (p.Ile812Val)
n.3688A>G
n.3886A>G
2g.214990938T>GCA350469398ABCA12c.3388A>C (p.Ile1130Leu)
c.2434A>C (p.Ile812Leu)
n.3688A>C
n.3886A>C
2g.214990938T=CA1327165406ABCA12c.3388A= (p.Ile1130=)
c.2434A= (p.Ile812=)
n.3688A=
n.3886A=
2g.214990939G>ACA431388313ABCA12c.3387C>T (p.Leu1129=)
c.2433C>T (p.Leu811=)
n.3687C>T
n.3885C>T
 COSMIC COSMIC
2g.214990939G>CCA431388310ABCA12c.3387C>G (p.Leu1129=)
c.2433C>G (p.Leu811=)
n.3687C>G
n.3885C>G
2g.214990939G>TCA431388312ABCA12c.3387C>A (p.Leu1129=)
c.2433C>A (p.Leu811=)
n.3687C>A
n.3885C>A
2g.214990940A>CCA350469401ABCA12c.3386T>G (p.Leu1129Arg)
c.2432T>G (p.Leu811Arg)
n.3686T>G
n.3884T>G
2g.214990940A>GCA350469403ABCA12c.3386T>C (p.Leu1129Pro)
c.2432T>C (p.Leu811Pro)
n.3686T>C
n.3884T>C
2g.214990940A>TCA350469405ABCA12c.3386T>A (p.Leu1129His)
c.2432T>A (p.Leu811His)
n.3686T>A
n.3884T>A
2g.214990941G>ACA350469408ABCA12c.3385C>T (p.Leu1129Phe)
c.2431C>T (p.Leu811Phe)
n.3685C>T
n.3883C>T
2g.214990941G>CCA350469410ABCA12c.3385C>G (p.Leu1129Val)
c.2431C>G (p.Leu811Val)
n.3685C>G
n.3883C>G
2g.214990941G>TCA350469413ABCA12c.3385C>A (p.Leu1129Ile)
c.2431C>A (p.Leu811Ile)
n.3685C>A
n.3883C>A
2g.214990942G>ACA431388319ABCA12c.3384C>T (p.Ile1128=)
c.2430C>T (p.Ile810=)
n.3684C>T
n.3882C>T
2g.214990942G>CCA350469415ABCA12c.3384C>G (p.Ile1128Met)
c.2430C>G (p.Ile810Met)
n.3684C>G
n.3882C>G
2g.214990942G>TCA431388321ABCA12c.3384C>A (p.Ile1128=)
c.2430C>A (p.Ile810=)
n.3684C>A
n.3882C>A
 gnomAD v4
2g.214990943A>CCA350469418ABCA12c.3383T>G (p.Ile1128Ser)
c.2429T>G (p.Ile810Ser)
n.3683T>G
n.3881T>G
2g.214990943A>GCA350469422ABCA12c.3383T>C (p.Ile1128Thr)
c.2429T>C (p.Ile810Thr)
n.3683T>C
n.3881T>C
2g.214990943A>TCA350469420ABCA12c.3383T>A (p.Ile1128Asn)
c.2429T>A (p.Ile810Asn)
n.3683T>A
n.3881T>A
2g.214990944T>ACA350469424ABCA12c.3382A>T (p.Ile1128Phe)
c.2428A>T (p.Ile810Phe)
n.3682A>T
n.3880A>T
 gnomAD v4
2g.214990944T>CCA64827773ABCA12c.3382A>G (p.Ile1128Val)
c.2428A>G (p.Ile810Val)
n.3682A>G
n.3880A>G
 dbSNP
2g.214990944T>GCA350469427ABCA12c.3382A>C (p.Ile1128Leu)
c.2428A>C (p.Ile810Leu)
n.3682A>C
n.3880A>C
2g.214990944T=CA1327165407ABCA12c.3382A= (p.Ile1128=)
c.2428A= (p.Ile810=)
n.3682A=
n.3880A=
2g.214990945C>ACA431388331ABCA12c.3381G>T (p.Val1127=)
c.2427G>T (p.Val809=)
n.3681G>T
n.3879G>T
2g.214990945C>GCA431388333ABCA12c.3381G>C (p.Val1127=)
c.2427G>C (p.Val809=)
n.3681G>C
n.3879G>C
2g.214990945C>TCA431388334ABCA12c.3381G>A (p.Val1127=)
c.2427G>A (p.Val809=)
n.3681G>A
n.3879G>A
2g.214990946A=CA1327165408ABCA12c.3380T= (p.Val1127=)
c.2426T= (p.Val809=)
n.3680T=
n.3878T=
2g.214990946A>CCA350469429ABCA12c.3380T>G (p.Val1127Gly)
c.2426T>G (p.Val809Gly)
n.3680T>G
n.3878T>G
2g.214990946A>GCA64827781ABCA12c.3380T>C (p.Val1127Ala)
c.2426T>C (p.Val809Ala)
n.3680T>C
n.3878T>C
 dbSNP gnomAD v4
2g.214990946A>TCA350469431ABCA12c.3380T>A (p.Val1127Glu)
c.2426T>A (p.Val809Glu)
n.3680T>A
n.3878T>A
2g.214990947C>ACA350469436ABCA12c.3379G>T (p.Val1127Leu)
c.2425G>T (p.Val809Leu)
n.3679G>T
n.3877G>T
2g.214990947C=CA1327165409ABCA12c.3379G= (p.Val1127=)
c.2425G= (p.Val809=)
n.3679G=
n.3877G=
2g.214990947C>GCA350469439ABCA12c.3379G>C (p.Val1127Leu)
c.2425G>C (p.Val809Leu)
n.3679G>C
n.3877G>C
2g.214990947C>TCA2091739ABCA12c.3379G>A (p.Val1127Met)
c.2425G>A (p.Val809Met)
n.3679G>A
n.3877G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990948G>ACA2091740ABCA12c.3378C>T (p.Ile1126=)
c.2424C>T (p.Ile808=)
n.3678C>T
n.3876C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214990948G>CCA350469442ABCA12c.3378C>G (p.Ile1126Met)
c.2424C>G (p.Ile808Met)
n.3678C>G
n.3876C>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990948G=CA1327165410ABCA12c.3378C= (p.Ile1126=)
c.2424C= (p.Ile808=)
n.3678C=
n.3876C=
2g.214990948G>TCA431388340ABCA12c.3378C>A (p.Ile1126=)
c.2424C>A (p.Ile808=)
n.3678C>A
n.3876C>A
2g.214990949A>CCA350469445ABCA12c.3377T>G (p.Ile1126Ser)
c.2423T>G (p.Ile808Ser)
n.3677T>G
n.3875T>G
2g.214990949A>GCA350469446ABCA12c.3377T>C (p.Ile1126Thr)
c.2423T>C (p.Ile808Thr)
n.3677T>C
n.3875T>C
 gnomAD v4
2g.214990949A>TCA350469448ABCA12c.3377T>A (p.Ile1126Asn)
c.2423T>A (p.Ile808Asn)
n.3677T>A
n.3875T>A
2g.214990950T>ACA350469452ABCA12c.3376A>T (p.Ile1126Phe)
c.2422A>T (p.Ile808Phe)
n.3676A>T
n.3874A>T
2g.214990950T>CCA350469454ABCA12c.3376A>G (p.Ile1126Val)
c.2422A>G (p.Ile808Val)
n.3676A>G
n.3874A>G
2g.214990950T>GCA64827826ABCA12c.3376A>C (p.Ile1126Leu)
c.2422A>C (p.Ile808Leu)
n.3676A>C
n.3874A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990950T=CA1327165411ABCA12c.3376A= (p.Ile1126=)
c.2422A= (p.Ile808=)
n.3676A=
n.3874A=
2g.214990951G>ACA431388345ABCA12c.3375C>T (p.Thr1125=)
c.2421C>T (p.Thr807=)
n.3675C>T
n.3873C>T
2g.214990951G>CCA431388346ABCA12c.3375C>G (p.Thr1125=)
c.2421C>G (p.Thr807=)
n.3675C>G
n.3873C>G
2g.214990951G>TCA431388376ABCA12c.3375C>A (p.Thr1125=)
c.2421C>A (p.Thr807=)
n.3675C>A
n.3873C>A
 gnomAD v4
2g.214990952G>ACA350469457ABCA12c.3374C>T (p.Thr1125Ile)
c.2420C>T (p.Thr807Ile)
n.3674C>T
n.3872C>T
 dbSNP gnomAD v4
2g.214990952G>CCA350469458ABCA12c.3374C>G (p.Thr1125Ser)
c.2420C>G (p.Thr807Ser)
n.3674C>G
n.3872C>G
2g.214990952G=CA1327165412ABCA12c.3374C= (p.Thr1125=)
c.2420C= (p.Thr807=)
n.3674C=
n.3872C=
2g.214990952G>TCA350469460ABCA12c.3374C>A (p.Thr1125Asn)
c.2420C>A (p.Thr807Asn)
n.3674C>A
n.3872C>A
2g.214990953T>ACA350469463ABCA12c.3373A>T (p.Thr1125Ser)
c.2419A>T (p.Thr807Ser)
n.3673A>T
n.3871A>T
2g.214990953T>CCA350469465ABCA12c.3373A>G (p.Thr1125Ala)
c.2419A>G (p.Thr807Ala)
n.3673A>G
n.3871A>G
2g.214990953T>GCA350469466ABCA12c.3373A>C (p.Thr1125Pro)
c.2419A>C (p.Thr807Pro)
n.3673A>C
n.3871A>C
 gnomAD v4
2g.214990954A>CCA431388377ABCA12c.3372T>G (p.Val1124=)
c.2418T>G (p.Val806=)
n.3672T>G
n.3870T>G
2g.214990954A>GCA431388378ABCA12c.3372T>C (p.Val1124=)
c.2418T>C (p.Val806=)
n.3672T>C
n.3870T>C
2g.214990954A>TCA431388379ABCA12c.3372T>A (p.Val1124=)
c.2418T>A (p.Val806=)
n.3672T>A
n.3870T>A
2g.214990955A>CCA350469469ABCA12c.3371T>G (p.Val1124Gly)
c.2417T>G (p.Val806Gly)
n.3671T>G
n.3869T>G
2g.214990955A>GCA350469473ABCA12c.3371T>C (p.Val1124Ala)
c.2417T>C (p.Val806Ala)
n.3671T>C
n.3869T>C
2g.214990955A>TCA350469471ABCA12c.3371T>A (p.Val1124Asp)
c.2417T>A (p.Val806Asp)
n.3671T>A
n.3869T>A
2g.214990956_214990958delCA2662978896ABCA12c.3369_3371del (p.Val1124del)
c.2415_2417del (p.Val806del)
n.3669_3671del
n.3867_3869del
 gnomAD v4
2g.214990956C>ACA350469476ABCA12c.3370G>T (p.Val1124Phe)
c.2416G>T (p.Val806Phe)
n.3670G>T
n.3868G>T
2g.214990956C>GCA350469477ABCA12c.3370G>C (p.Val1124Leu)
c.2416G>C (p.Val806Leu)
n.3670G>C
n.3868G>C
2g.214990956C>TCA350469480ABCA12c.3370G>A (p.Val1124Ile)
c.2416G>A (p.Val806Ile)
n.3670G>A
n.3868G>A
 gnomAD v4
2g.214990957C>ACA431388380ABCA12c.3369G>T (p.Leu1123=)
c.2415G>T (p.Leu805=)
n.3669G>T
n.3867G>T
2g.214990957C>GCA431388381ABCA12c.3369G>C (p.Leu1123=)
c.2415G>C (p.Leu805=)
n.3669G>C
n.3867G>C
2g.214990957C>TCA431388382ABCA12c.3369G>A (p.Leu1123=)
c.2415G>A (p.Leu805=)
n.3669G>A
n.3867G>A
2g.214990958A>CCA350469482ABCA12c.3368T>G (p.Leu1123Arg)
c.2414T>G (p.Leu805Arg)
n.3668T>G
n.3866T>G
2g.214990958A>GCA350469484ABCA12c.3368T>C (p.Leu1123Pro)
c.2414T>C (p.Leu805Pro)
n.3668T>C
n.3866T>C
2g.214990958A>TCA350469486ABCA12c.3368T>A (p.Leu1123Gln)
c.2414T>A (p.Leu805Gln)
n.3668T>A
n.3866T>A
2g.214990959G>ACA431388383ABCA12c.3367C>T (p.Leu1123=)
c.2413C>T (p.Leu805=)
n.3667C>T
n.3865C>T
 gnomAD v4
2g.214990959G>CCA350469488ABCA12c.3367C>G (p.Leu1123Val)
c.2413C>G (p.Leu805Val)
n.3667C>G
n.3865C>G
2g.214990959G>TCA350469490ABCA12c.3367C>A (p.Leu1123Met)
c.2413C>A (p.Leu805Met)
n.3667C>A
n.3865C>A
2g.214990960T>ACA350469493ABCA12c.3366A>T (p.Leu1122Phe)
c.2412A>T (p.Leu804Phe)
n.3666A>T
n.3864A>T
 dbSNP gnomAD v3 gnomAD v4
2g.214990960T>CCA431388384ABCA12c.3366A>G (p.Leu1122=)
c.2412A>G (p.Leu804=)
n.3666A>G
n.3864A>G
2g.214990960T>GCA350469494ABCA12c.3366A>C (p.Leu1122Phe)
c.2412A>C (p.Leu804Phe)
n.3666A>C
n.3864A>C
2g.214990960T=CA1327165413ABCA12c.3366A= (p.Leu1122=)
c.2412A= (p.Leu804=)
n.3666A=
n.3864A=
2g.214990960_214990961insGCA539837476ABCA12c.3365_3366insC (p.Leu1122PhefsTer20)
c.2411_2412insC (p.Leu804PhefsTer20)
n.3665_3666insC
n.3863_3864insC
 dbSNP gnomAD v2
2g.214990961A=CA1327165414ABCA12c.3365T= (p.Leu1122=)
c.2411T= (p.Leu804=)
n.3665T=
n.3863T=
2g.214990961A>CCA350469498ABCA12c.3365T>G (p.Leu1122Ter)
c.2411T>G (p.Leu804Ter)
n.3665T>G
n.3863T>G
2g.214990961A>GCA350469500ABCA12c.3365T>C (p.Leu1122Ser)
c.2411T>C (p.Leu804Ser)
n.3665T>C
n.3863T>C
 dbSNP gnomAD v2
2g.214990961A>TCA350469497ABCA12c.3365T>A (p.Leu1122Ter)
c.2411T>A (p.Leu804Ter)
n.3665T>A
n.3863T>A
2g.214990962A=CA1327165415ABCA12c.3364T= (p.Leu1122=)
c.2410T= (p.Leu804=)
n.3664T=
n.3862T=
2g.214990962A>CCA350469502ABCA12c.3364T>G (p.Leu1122Val)
c.2410T>G (p.Leu804Val)
n.3664T>G
n.3862T>G
 dbSNP
2g.214990962A>GCA431388386ABCA12c.3364T>C (p.Leu1122=)
c.2410T>C (p.Leu804=)
n.3664T>C
n.3862T>C
2g.214990962A>TCA350469505ABCA12c.3364T>A (p.Leu1122Ile)
c.2410T>A (p.Leu804Ile)
n.3664T>A
n.3862T>A
2g.214990963A=CA1327165416ABCA12c.3363T= (p.Phe1121=)
c.2409T= (p.Phe803=)
n.3663T=
n.3861T=
2g.214990963A>CCA350469509ABCA12c.3363T>G (p.Phe1121Leu)
c.2409T>G (p.Phe803Leu)
n.3663T>G
n.3861T>G
2g.214990963A>GCA431388387ABCA12c.3363T>C (p.Phe1121=)
c.2409T>C (p.Phe803=)
n.3663T>C
n.3861T>C
 dbSNP gnomAD v2
2g.214990963A>TCA350469511ABCA12c.3363T>A (p.Phe1121Leu)
c.2409T>A (p.Phe803Leu)
n.3663T>A
n.3861T>A
2g.214990964A>CCA350469515ABCA12c.3362T>G (p.Phe1121Cys)
c.2408T>G (p.Phe803Cys)
n.3662T>G
n.3860T>G
2g.214990964A>GCA350469518ABCA12c.3362T>C (p.Phe1121Ser)
c.2408T>C (p.Phe803Ser)
n.3662T>C
n.3860T>C
2g.214990964A>TCA350469520ABCA12c.3362T>A (p.Phe1121Tyr)
c.2408T>A (p.Phe803Tyr)
n.3662T>A
n.3860T>A
2g.214990965A>CCA350469523ABCA12c.3361T>G (p.Phe1121Val)
c.2407T>G (p.Phe803Val)
n.3661T>G
n.3859T>G
2g.214990965A>GCA350469525ABCA12c.3361T>C (p.Phe1121Leu)
c.2407T>C (p.Phe803Leu)
n.3661T>C
n.3859T>C
2g.214990965A>TCA350469527ABCA12c.3361T>A (p.Phe1121Ile)
c.2407T>A (p.Phe803Ile)
n.3661T>A
n.3859T>A
2g.214990966T>ACA431388391ABCA12c.3360A>T (p.Gly1120=)
c.2406A>T (p.Gly802=)
n.3660A>T
n.3858A>T
 gnomAD v4
2g.214990966T>CCA2091741ABCA12c.3360A>G (p.Gly1120=)
c.2406A>G (p.Gly802=)
n.3660A>G
n.3858A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990966T>GCA431388392ABCA12c.3360A>C (p.Gly1120=)
c.2406A>C (p.Gly802=)
n.3660A>C
n.3858A>C
2g.214990966T=CA1327165417ABCA12c.3360A= (p.Gly1120=)
c.2406A= (p.Gly802=)
n.3660A=
n.3858A=
2g.214990967C>ACA2091742ABCA12c.3359G>T (p.Gly1120Val)
c.2405G>T (p.Gly802Val)
n.3659G>T
n.3857G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990967C=CA1327165418ABCA12c.3359G= (p.Gly1120=)
c.2405G= (p.Gly802=)
n.3659G=
n.3857G=
2g.214990967C>GCA350469539ABCA12c.3359G>C (p.Gly1120Ala)
c.2405G>C (p.Gly802Ala)
n.3659G>C
n.3857G>C
2g.214990967C>TCA350469533ABCA12c.3359G>A (p.Gly1120Glu)
c.2405G>A (p.Gly802Glu)
n.3659G>A
n.3857G>A
 gnomAD v4
2g.214990968C>ACA350469542ABCA12c.3358G>T (p.Gly1120Ter)
c.2404G>T (p.Gly802Ter)
n.3658G>T
n.3856G>T
2g.214990968C>GCA350469546ABCA12c.3358G>C (p.Gly1120Arg)
c.2404G>C (p.Gly802Arg)
n.3658G>C
n.3856G>C
2g.214990968C>TCA350469548ABCA12c.3358G>A (p.Gly1120Arg)
c.2404G>A (p.Gly802Arg)
n.3658G>A
n.3856G>A
2g.214990969A>CCA431388393ABCA12c.3357T>G (p.Val1119=)
c.2403T>G (p.Val801=)
n.3657T>G
n.3855T>G
2g.214990969A>GCA431388395ABCA12c.3357T>C (p.Val1119=)
c.2403T>C (p.Val801=)
n.3657T>C
n.3855T>C
2g.214990969A>TCA431388394ABCA12c.3357T>A (p.Val1119=)
c.2403T>A (p.Val801=)
n.3657T>A
n.3855T>A
2g.214990970A>CCA350469550ABCA12c.3356T>G (p.Val1119Gly)
c.2402T>G (p.Val801Gly)
n.3656T>G
n.3854T>G
2g.214990970A>GCA350469551ABCA12c.3356T>C (p.Val1119Ala)
c.2402T>C (p.Val801Ala)
n.3656T>C
n.3854T>C
 gnomAD v4
2g.214990970A>TCA350469553ABCA12c.3356T>A (p.Val1119Asp)
c.2402T>A (p.Val801Asp)
n.3656T>A
n.3854T>A
2g.214990971C>ACA350469557ABCA12c.3355G>T (p.Val1119Phe)
c.2401G>T (p.Val801Phe)
n.3655G>T
n.3853G>T
 gnomAD v4
2g.214990971C>GCA350469568ABCA12c.3355G>C (p.Val1119Leu)
c.2401G>C (p.Val801Leu)
n.3655G>C
n.3853G>C
2g.214990971C>TCA350469567ABCA12c.3355G>A (p.Val1119Ile)
c.2401G>A (p.Val801Ile)
n.3655G>A
n.3853G>A
 ClinVar
2g.214990972A=CA1327165419ABCA12c.3354T= (p.Ser1118=)
c.2400T= (p.Ser800=)
n.3654T=
n.3852T=
2g.214990972A>CCA350469569ABCA12c.3354T>G (p.Ser1118Arg)
c.2400T>G (p.Ser800Arg)
n.3654T>G
n.3852T>G
 dbSNP gnomAD v2
2g.214990972A>GCA431388399ABCA12c.3354T>C (p.Ser1118=)
c.2400T>C (p.Ser800=)
n.3654T>C
n.3852T>C
 ClinVar
2g.214990972A>TCA350469570ABCA12c.3354T>A (p.Ser1118Arg)
c.2400T>A (p.Ser800Arg)
n.3654T>A
n.3852T>A
2g.214990973C>ACA350469572ABCA12c.3353G>T (p.Ser1118Ile)
c.2399G>T (p.Ser800Ile)
n.3653G>T
n.3851G>T
2g.214990973C=CA1327165420ABCA12c.3353G= (p.Ser1118=)
c.2399G= (p.Ser800=)
n.3653G=
n.3851G=
2g.214990973C>GCA350469574ABCA12c.3353G>C (p.Ser1118Thr)
c.2399G>C (p.Ser800Thr)
n.3653G>C
n.3851G>C
2g.214990973C>TCA350469576ABCA12c.3353G>A (p.Ser1118Asn)
c.2399G>A (p.Ser800Asn)
n.3653G>A
n.3851G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990974T>ACA350469584ABCA12c.3352A>T (p.Ser1118Cys)
c.2398A>T (p.Ser800Cys)
n.3652A>T
n.3850A>T
 gnomAD v4
2g.214990974T>CCA350469583ABCA12c.3352A>G (p.Ser1118Gly)
c.2398A>G (p.Ser800Gly)
n.3652A>G
n.3850A>G
 gnomAD v4
2g.214990974T>GCA350469582ABCA12c.3352A>C (p.Ser1118Arg)
c.2398A>C (p.Ser800Arg)
n.3652A>C
n.3850A>C
2g.214990975C>ACA350469588ABCA12c.3351G>T (p.Glu1117Asp)
c.2397G>T (p.Glu799Asp)
n.3651G>T
n.3849G>T
2g.214990975C=CA1327165421ABCA12c.3351G= (p.Glu1117=)
c.2397G= (p.Glu799=)
n.3651G=
n.3849G=
2g.214990975C>GCA350469586ABCA12c.3351G>C (p.Glu1117Asp)
c.2397G>C (p.Glu799Asp)
n.3651G>C
n.3849G>C
2g.214990975C>TCA2091743ABCA12c.3351G>A (p.Glu1117=)
c.2397G>A (p.Glu799=)
n.3651G>A
n.3849G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990976T>ACA350469591ABCA12c.3350A>T (p.Glu1117Val)
c.2396A>T (p.Glu799Val)
n.3650A>T
n.3848A>T
2g.214990976T>CCA350469593ABCA12c.3350A>G (p.Glu1117Gly)
c.2396A>G (p.Glu799Gly)
n.3650A>G
n.3848A>G
2g.214990976T>GCA350469594ABCA12c.3350A>C (p.Glu1117Ala)
c.2396A>C (p.Glu799Ala)
n.3650A>C
n.3848A>C
2g.214990977C>ACA350469595ABCA12c.3349G>T (p.Glu1117Ter)
c.2395G>T (p.Glu799Ter)
n.3649G>T
n.3847G>T
2g.214990977C>GCA350469596ABCA12c.3349G>C (p.Glu1117Gln)
c.2395G>C (p.Glu799Gln)
n.3649G>C
n.3847G>C
2g.214990977C>TCA350469597ABCA12c.3349G>A (p.Glu1117Lys)
c.2395G>A (p.Glu799Lys)
n.3649G>A
n.3847G>A
2g.214990978T>ACA431388401ABCA12c.3348A>T (p.Ile1116=)
c.2394A>T (p.Ile798=)
n.3648A>T
n.3846A>T
2g.214990978T>CCA350469598ABCA12c.3348A>G (p.Ile1116Met)
c.2394A>G (p.Ile798Met)
n.3648A>G
n.3846A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990978T>GCA431388403ABCA12c.3348A>C (p.Ile1116=)
c.2394A>C (p.Ile798=)
n.3648A>C
n.3846A>C
 gnomAD v4
2g.214990978T=CA1327165422ABCA12c.3348A= (p.Ile1116=)
c.2394A= (p.Ile798=)
n.3648A=
n.3846A=
2g.214990979A>CCA350469599ABCA12c.3347T>G (p.Ile1116Arg)
c.2393T>G (p.Ile798Arg)
n.3647T>G
n.3845T>G
2g.214990979A>GCA350469601ABCA12c.3347T>C (p.Ile1116Thr)
c.2393T>C (p.Ile798Thr)
n.3647T>C
n.3845T>C
2g.214990979A>TCA350469603ABCA12c.3347T>A (p.Ile1116Lys)
c.2393T>A (p.Ile798Lys)
n.3647T>A
n.3845T>A
2g.214990980T>ACA350469605ABCA12c.3346A>T (p.Ile1116Leu)
c.2392A>T (p.Ile798Leu)
n.3646A>T
n.3844A>T
2g.214990980T>CCA350469607ABCA12c.3346A>G (p.Ile1116Val)
c.2392A>G (p.Ile798Val)
n.3646A>G
n.3844A>G
2g.214990980T>GCA350469609ABCA12c.3346A>C (p.Ile1116Leu)
c.2392A>C (p.Ile798Leu)
n.3646A>C
n.3844A>C
2g.214990981A=CA1327165423ABCA12c.3345T= (p.Leu1115=)
c.2391T= (p.Leu797=)
n.3645T=
n.3843T=
2g.214990981A>CCA431388388ABCA12c.3345T>G (p.Leu1115=)
c.2391T>G (p.Leu797=)
n.3645T>G
n.3843T>G
2g.214990981A>GCA431388389ABCA12c.3345T>C (p.Leu1115=)
c.2391T>C (p.Leu797=)
n.3645T>C
n.3843T>C
 ClinVar dbSNP
2g.214990981A>TCA431388390ABCA12c.3345T>A (p.Leu1115=)
c.2391T>A (p.Leu797=)
n.3645T>A
n.3843T>A
2g.214990982A>CCA350469611ABCA12c.3344T>G (p.Leu1115Arg)
c.2390T>G (p.Leu797Arg)
n.3644T>G
n.3842T>G
2g.214990982A>GCA350469614ABCA12c.3344T>C (p.Leu1115Pro)
c.2390T>C (p.Leu797Pro)
n.3644T>C
n.3842T>C
2g.214990982A>TCA350469612ABCA12c.3344T>A (p.Leu1115His)
c.2390T>A (p.Leu797His)
n.3644T>A
n.3842T>A
2g.214990983G>ACA350469616ABCA12c.3343C>T (p.Leu1115Phe)
c.2389C>T (p.Leu797Phe)
n.3643C>T
n.3841C>T
 gnomAD v4
2g.214990983G>CCA350469617ABCA12c.3343C>G (p.Leu1115Val)
c.2389C>G (p.Leu797Val)
n.3643C>G
n.3841C>G
2g.214990983G>TCA350469618ABCA12c.3343C>A (p.Leu1115Ile)
c.2389C>A (p.Leu797Ile)
n.3643C>A
n.3841C>A
2g.214990984C>ACA350469620ABCA12c.3342G>T (p.Trp1114Cys)
c.2388G>T (p.Trp796Cys)
n.3642G>T
n.3840G>T
2g.214990984C>GCA350469621ABCA12c.3342G>C (p.Trp1114Cys)
c.2388G>C (p.Trp796Cys)
n.3642G>C
n.3840G>C
2g.214990984C>TCA350469623ABCA12c.3342G>A (p.Trp1114Ter)
c.2388G>A (p.Trp796Ter)
n.3642G>A
n.3840G>A
2g.214990985C>ACA350469625ABCA12c.3341G>T (p.Trp1114Leu)
c.2387G>T (p.Trp796Leu)
n.3641G>T
n.3839G>T
2g.214990985C>GCA350469627ABCA12c.3341G>C (p.Trp1114Ser)
c.2387G>C (p.Trp796Ser)
n.3641G>C
n.3839G>C
2g.214990985C>TCA350469628ABCA12c.3341G>A (p.Trp1114Ter)
c.2387G>A (p.Trp796Ter)
n.3641G>A
n.3839G>A
2g.214990986A>CCA350469630ABCA12c.3340T>G (p.Trp1114Gly)
c.2386T>G (p.Trp796Gly)
n.3640T>G
n.3838T>G
2g.214990986A>GCA350469632ABCA12c.3340T>C (p.Trp1114Arg)
c.2386T>C (p.Trp796Arg)
n.3640T>C
n.3838T>C
2g.214990986A>TCA350469634ABCA12c.3340T>A (p.Trp1114Arg)
c.2386T>A (p.Trp796Arg)
n.3640T>A
n.3838T>A
2g.214990987G>ACA431388396ABCA12c.3339C>T (p.Ala1113=)
c.2385C>T (p.Ala795=)
n.3639C>T
n.3837C>T
2g.214990987G>CCA431388397ABCA12c.3339C>G (p.Ala1113=)
c.2385C>G (p.Ala795=)
n.3639C>G
n.3837C>G
2g.214990987G>TCA431388398ABCA12c.3339C>A (p.Ala1113=)
c.2385C>A (p.Ala795=)
n.3639C>A
n.3837C>A
2g.214990988G>ACA350469636ABCA12c.3338C>T (p.Ala1113Val)
c.2384C>T (p.Ala795Val)
n.3638C>T
n.3836C>T
 gnomAD v4
2g.214990988G>CCA350469640ABCA12c.3338C>G (p.Ala1113Gly)
c.2384C>G (p.Ala795Gly)
n.3638C>G
n.3836C>G
2g.214990988G>TCA350469638ABCA12c.3338C>A (p.Ala1113Asp)
c.2384C>A (p.Ala795Asp)
n.3638C>A
n.3836C>A
2g.214990989C>ACA350469642ABCA12c.3337G>T (p.Ala1113Ser)
c.2383G>T (p.Ala795Ser)
n.3637G>T
n.3835G>T
2g.214990989C=CA1327165424ABCA12c.3337G= (p.Ala1113=)
c.2383G= (p.Ala795=)
n.3637G=
n.3835G=
2g.214990989C>GCA64827847ABCA12c.3337G>C (p.Ala1113Pro)
c.2383G>C (p.Ala795Pro)
n.3637G>C
n.3835G>C
 dbSNP
2g.214990989C>TCA350469644ABCA12c.3337G>A (p.Ala1113Thr)
c.2383G>A (p.Ala795Thr)
n.3637G>A
n.3835G>A
2g.214990990A>CCA350469646ABCA12c.3336T>G (p.Phe1112Leu)
c.2382T>G (p.Phe794Leu)
n.3636T>G
n.3834T>G
2g.214990990A>GCA431388400ABCA12c.3336T>C (p.Phe1112=)
c.2382T>C (p.Phe794=)
n.3636T>C
n.3834T>C
2g.214990990A>TCA350469648ABCA12c.3336T>A (p.Phe1112Leu)
c.2382T>A (p.Phe794Leu)
n.3636T>A
n.3834T>A
2g.214990991A>CCA350469649ABCA12c.3335T>G (p.Phe1112Cys)
c.2381T>G (p.Phe794Cys)
n.3635T>G
n.3833T>G
2g.214990991A>GCA350469651ABCA12c.3335T>C (p.Phe1112Ser)
c.2381T>C (p.Phe794Ser)
n.3635T>C
n.3833T>C
2g.214990991A>TCA350469652ABCA12c.3335T>A (p.Phe1112Tyr)
c.2381T>A (p.Phe794Tyr)
n.3635T>A
n.3833T>A
2g.214990992A>CCA350469654ABCA12c.3334T>G (p.Phe1112Val)
c.2380T>G (p.Phe794Val)
n.3634T>G
n.3832T>G
2g.214990992A>GCA350469656ABCA12c.3334T>C (p.Phe1112Leu)
c.2380T>C (p.Phe794Leu)
n.3634T>C
n.3832T>C
 gnomAD v4
2g.214990992A>TCA350469657ABCA12c.3334T>A (p.Phe1112Ile)
c.2380T>A (p.Phe794Ile)
n.3634T>A
n.3832T>A
2g.214990993G>ACA431388402ABCA12c.3333C>T (p.Phe1111=)
c.2379C>T (p.Phe793=)
n.3633C>T
n.3831C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214990993G>CCA350469658ABCA12c.3333C>G (p.Phe1111Leu)
c.2379C>G (p.Phe793Leu)
n.3633C>G
n.3831C>G
2g.214990993G=CA1327165425ABCA12c.3333C= (p.Phe1111=)
c.2379C= (p.Phe793=)
n.3633C=
n.3831C=
2g.214990993G>TCA350469659ABCA12c.3333C>A (p.Phe1111Leu)
c.2379C>A (p.Phe793Leu)
n.3633C>A
n.3831C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990994A>CCA350469660ABCA12c.3332T>G (p.Phe1111Cys)
c.2378T>G (p.Phe793Cys)
n.3632T>G
n.3830T>G
2g.214990994A>GCA350469664ABCA12c.3332T>C (p.Phe1111Ser)
c.2378T>C (p.Phe793Ser)
n.3632T>C
n.3830T>C
2g.214990994A>TCA350469661ABCA12c.3332T>A (p.Phe1111Tyr)
c.2378T>A (p.Phe793Tyr)
n.3632T>A
n.3830T>A
2g.214990995A>CCA350469667ABCA12c.3331T>G (p.Phe1111Val)
c.2377T>G (p.Phe793Val)
n.3631T>G
n.3829T>G
2g.214990995A>GCA350469668ABCA12c.3331T>C (p.Phe1111Leu)
c.2377T>C (p.Phe793Leu)
n.3631T>C
n.3829T>C
2g.214990995A>TCA350469670ABCA12c.3331T>A (p.Phe1111Ile)
c.2377T>A (p.Phe793Ile)
n.3631T>A
n.3829T>A
2g.214990996A>CCA350469672ABCA12c.3330T>G (p.His1110Gln)
c.2376T>G (p.His792Gln)
n.3630T>G
n.3828T>G
2g.214990996A>GCA431388405ABCA12c.3330T>C (p.His1110=)
c.2376T>C (p.His792=)
n.3630T>C
n.3828T>C
2g.214990996A>TCA350469674ABCA12c.3330T>A (p.His1110Gln)
c.2376T>A (p.His792Gln)
n.3630T>A
n.3828T>A
2g.214990997T>ACA350469676ABCA12c.3329A>T (p.His1110Leu)
c.2375A>T (p.His792Leu)
n.3629A>T
n.3827A>T
2g.214990997T>CCA350469677ABCA12c.3329A>G (p.His1110Arg)
c.2375A>G (p.His792Arg)
n.3629A>G
n.3827A>G
2g.214990997T>GCA350469679ABCA12c.3329A>C (p.His1110Pro)
c.2375A>C (p.His792Pro)
n.3629A>C
n.3827A>C
2g.214990998G>ACA350469681ABCA12c.3328C>T (p.His1110Tyr)
c.2374C>T (p.His792Tyr)
n.3628C>T
n.3826C>T
2g.214990998G>CCA350469683ABCA12c.3328C>G (p.His1110Asp)
c.2374C>G (p.His792Asp)
n.3628C>G
n.3826C>G
2g.214990998G>TCA350469684ABCA12c.3328C>A (p.His1110Asn)
c.2374C>A (p.His792Asn)
n.3628C>A
n.3826C>A
2g.214990999G>ACA2091744ABCA12c.3327C>T (p.Ser1109=)
c.2373C>T (p.Ser791=)
n.3627C>T
n.3825C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990999G>CCA350469689ABCA12c.3327C>G (p.Ser1109Arg)
c.2373C>G (p.Ser791Arg)
n.3627C>G
n.3825C>G
2g.214990999G=CA1327165426ABCA12c.3327C= (p.Ser1109=)
c.2373C= (p.Ser791=)
n.3627C=
n.3825C=
2g.214990999G>TCA350469687ABCA12c.3327C>A (p.Ser1109Arg)
c.2373C>A (p.Ser791Arg)
n.3627C>A
n.3825C>A
 gnomAD v4
2g.214991000C>ACA350469691ABCA12c.3326G>T (p.Ser1109Ile)
c.2372G>T (p.Ser791Ile)
n.3626G>T
n.3824G>T
2g.214991000C>GCA350469696ABCA12c.3326G>C (p.Ser1109Thr)
c.2372G>C (p.Ser791Thr)
n.3626G>C
n.3824G>C
2g.214991000C>TCA350469693ABCA12c.3326G>A (p.Ser1109Asn)
c.2372G>A (p.Ser791Asn)
n.3626G>A
n.3824G>A
2g.214991001T>ACA350469698ABCA12c.3325A>T (p.Ser1109Cys)
c.2371A>T (p.Ser791Cys)
n.3625A>T
n.3823A>T
2g.214991001T>CCA350469700ABCA12c.3325A>G (p.Ser1109Gly)
c.2371A>G (p.Ser791Gly)
n.3625A>G
n.3823A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214991001T>GCA350469701ABCA12c.3325A>C (p.Ser1109Arg)
c.2371A>C (p.Ser791Arg)
n.3625A>C
n.3823A>C
2g.214991001T=CA1327165427ABCA12c.3325A= (p.Ser1109=)
c.2371A= (p.Ser791=)
n.3625A=
n.3823A=
2g.214991002G>ACA431388407ABCA12c.3324C>T (p.Cys1108=)
c.2370C>T (p.Cys790=)
n.3624C>T
n.3822C>T
2g.214991002G>CCA350469702ABCA12c.3324C>G (p.Cys1108Trp)
c.2370C>G (p.Cys790Trp)
n.3624C>G
n.3822C>G
2g.214991002G>TCA350469703ABCA12c.3324C>A (p.Cys1108Ter)
c.2370C>A (p.Cys790Ter)
n.3624C>A
n.3822C>A
2g.214991003C>ACA350469705ABCA12c.3323G>T (p.Cys1108Phe)
c.2369G>T (p.Cys790Phe)
n.3623G>T
n.3821G>T
 gnomAD v4
2g.214991003C>GCA350469706ABCA12c.3323G>C (p.Cys1108Ser)
c.2369G>C (p.Cys790Ser)
n.3623G>C
n.3821G>C
2g.214991003C>TCA350469708ABCA12c.3323G>A (p.Cys1108Tyr)
c.2369G>A (p.Cys790Tyr)
n.3623G>A
n.3821G>A
2g.214991004A=CA1327165428ABCA12c.3322T= (p.Cys1108=)
c.2368T= (p.Cys790=)
n.3622T=
n.3820T=
2g.214991004A>CCA350469710ABCA12c.3322T>G (p.Cys1108Gly)
c.2368T>G (p.Cys790Gly)
n.3622T>G
n.3820T>G
2g.214991004A>GCA350469712ABCA12c.3322T>C (p.Cys1108Arg)
c.2368T>C (p.Cys790Arg)
n.3622T>C
n.3820T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214991004A>TCA350469713ABCA12c.3322T>A (p.Cys1108Ser)
c.2368T>A (p.Cys790Ser)
n.3622T>A
n.3820T>A
2g.214991005G>ACA431388410ABCA12c.3321C>T (p.Ser1107=)
c.2367C>T (p.Ser789=)
n.3621C>T
n.3819C>T
2g.214991005G>CCA431388411ABCA12c.3321C>G (p.Ser1107=)
c.2367C>G (p.Ser789=)
n.3621C>G
n.3819C>G
2g.214991005G=CA1327165429ABCA12c.3321C= (p.Ser1107=)
c.2367C= (p.Ser789=)
n.3621C=
n.3819C=
2g.214991005G>TCA431388409ABCA12c.3321C>A (p.Ser1107=)
c.2367C>A (p.Ser789=)
n.3621C>A
n.3819C>A
2g.214991006G>ACA350469720ABCA12c.3320C>T (p.Ser1107Phe)
c.2366C>T (p.Ser789Phe)
n.3620C>T
n.3818C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214991006G>CCA350469716ABCA12c.3320C>G (p.Ser1107Cys)
c.2366C>G (p.Ser789Cys)
n.3620C>G
n.3818C>G
2g.214991006G=CA1327165430ABCA12c.3320C= (p.Ser1107=)
c.2366C= (p.Ser789=)
n.3620C=
n.3818C=
2g.214991006G>TCA350469717ABCA12c.3320C>A (p.Ser1107Tyr)
c.2366C>A (p.Ser789Tyr)
n.3620C>A
n.3818C>A
2g.214991009_214991053dupCA2091745ABCA12c.3295-19_3320dup
c.2341-19_2366dup
n.3595-19_3620dup
n.3793-19_3818dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214991007A=CA1327165431ABCA12c.3319T= (p.Ser1107=)
c.2365T= (p.Ser789=)
n.3619T=
n.3817T=
2g.214991007A>CCA350469724ABCA12c.3319T>G (p.Ser1107Ala)
c.2365T>G (p.Ser789Ala)
n.3619T>G
n.3817T>G
 dbSNP
2g.214991007A>GCA350469725ABCA12c.3319T>C (p.Ser1107Pro)
c.2365T>C (p.Ser789Pro)
n.3619T>C
n.3817T>C
2g.214991007A>TCA350469728ABCA12c.3319T>A (p.Ser1107Thr)
c.2365T>A (p.Ser789Thr)
n.3619T>A
n.3817T>A
2g.214991008G>ACA431388412ABCA12c.3318C>T (p.Asn1106=)
c.2364C>T (p.Asn788=)
n.3618C>T
n.3816C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214991008G>CCA350469730ABCA12c.3318C>G (p.Asn1106Lys)
c.2364C>G (p.Asn788Lys)
n.3618C>G
n.3816C>G
2g.214991008G=CA1327165432ABCA12c.3318C= (p.Asn1106=)
c.2364C= (p.Asn788=)
n.3618C=
n.3816C=
2g.214991008G>TCA350469732ABCA12c.3318C>A (p.Asn1106Lys)
c.2364C>A (p.Asn788Lys)
n.3618C>A
n.3816C>A
2g.214991009T>ACA350469736ABCA12c.3317A>T (p.Asn1106Ile)
c.2363A>T (p.Asn788Ile)
n.3617A>T
n.3815A>T
2g.214991009T>CCA350469737ABCA12c.3317A>G (p.Asn1106Ser)
c.2363A>G (p.Asn788Ser)
n.3617A>G
n.3815A>G
2g.214991009T>GCA350469738ABCA12c.3317A>C (p.Asn1106Thr)
c.2363A>C (p.Asn788Thr)
n.3617A>C
n.3815A>C
 dbSNP
2g.214991009T=CA1327165433ABCA12c.3317A= (p.Asn1106=)
c.2363A= (p.Asn788=)
n.3617A=
n.3815A=
2g.214991010T>ACA350469741ABCA12c.3316A>T (p.Asn1106Tyr)
c.2362A>T (p.Asn788Tyr)
n.3616A>T
n.3814A>T
2g.214991010T>CCA350469742ABCA12c.3316A>G (p.Asn1106Asp)
c.2362A>G (p.Asn788Asp)
n.3616A>G
n.3814A>G
2g.214991010T>GCA350469744ABCA12c.3316A>C (p.Asn1106His)
c.2362A>C (p.Asn788His)
n.3616A>C
n.3814A>C
2g.214991010_214991011insACA431388413ABCA12c.3315_3316insT (p.Asn1106Ter)
c.2361_2362insT (p.Asn788Ter)
n.3615_3616insT
n.3813_3814insT
2g.214991011C>ACA431388414ABCA12c.3315G>T (p.Val1105=)
c.2361G>T (p.Val787=)
n.3615G>T
n.3813G>T
2g.214991011C=CA1327165434ABCA12c.3315G= (p.Val1105=)
c.2361G= (p.Val787=)
n.3615G=
n.3813G=
2g.214991011C>GCA431388415ABCA12c.3315G>C (p.Val1105=)
c.2361G>C (p.Val787=)
n.3615G>C
n.3813G>C
2g.214991011C>TCA431388416ABCA12c.3315G>A (p.Val1105=)
c.2361G>A (p.Val787=)
n.3615G>A
n.3813G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214991012A>CCA350469756ABCA12c.3314T>G (p.Val1105Gly)
c.2360T>G (p.Val787Gly)
n.3614T>G
n.3812T>G
2g.214991012A>GCA350469754ABCA12c.3314T>C (p.Val1105Ala)
c.2360T>C (p.Val787Ala)
n.3614T>C
n.3812T>C
2g.214991012A>TCA350469752ABCA12c.3314T>A (p.Val1105Glu)
c.2360T>A (p.Val787Glu)
n.3614T>A
n.3812T>A
2g.214991013C>ACA350469759ABCA12c.3313G>T (p.Val1105Leu)
c.2359G>T (p.Val787Leu)
n.3613G>T
n.3811G>T
2g.214991013C=CA1327165435ABCA12c.3313G= (p.Val1105=)
c.2359G= (p.Val787=)
n.3613G=
n.3811G=
2g.214991013C>GCA350469757ABCA12c.3313G>C (p.Val1105Leu)
c.2359G>C (p.Val787Leu)
n.3613G>C
n.3811G>C
2g.214991013C>TCA350469758ABCA12c.3313G>A (p.Val1105Met)
c.2359G>A (p.Val787Met)
n.3613G>A
n.3811G>A
 dbSNP
2g.214991014A>CCA431388417ABCA12c.3312T>G (p.Gly1104=)
c.2358T>G (p.Gly786=)
n.3612T>G
n.3810T>G
2g.214991014A>GCA431388418ABCA12c.3312T>C (p.Gly1104=)
c.2358T>C (p.Gly786=)
n.3612T>C
n.3810T>C
2g.214991014A>TCA431388419ABCA12c.3312T>A (p.Gly1104=)
c.2358T>A (p.Gly786=)
n.3612T>A
n.3810T>A
2g.214991015C>ACA350469763ABCA12c.3311G>T (p.Gly1104Val)
c.2357G>T (p.Gly786Val)
n.3611G>T
n.3809G>T
 gnomAD v4
2g.214991015C>GCA350469765ABCA12c.3311G>C (p.Gly1104Ala)
c.2357G>C (p.Gly786Ala)
n.3611G>C
n.3809G>C
2g.214991015C>TCA350469770ABCA12c.3311G>A (p.Gly1104Asp)
c.2357G>A (p.Gly786Asp)
n.3611G>A
n.3809G>A
 gnomAD v4
2g.214991016C>ACA350469779ABCA12c.3310G>T (p.Gly1104Cys)
c.2356G>T (p.Gly786Cys)
n.3610G>T
n.3808G>T
2g.214991016C>GCA350469776ABCA12c.3310G>C (p.Gly1104Arg)
c.2356G>C (p.Gly786Arg)
n.3610G>C
n.3808G>C
2g.214991016C>TCA350469775ABCA12c.3310G>A (p.Gly1104Ser)
c.2356G>A (p.Gly786Ser)
n.3610G>A
n.3808G>A
2g.214991017C>ACA350469784ABCA12c.3309G>T (p.Met1103Ile)
c.2355G>T (p.Met785Ile)
n.3609G>T
n.3807G>T
2g.214991017C>GCA350469786ABCA12c.3309G>C (p.Met1103Ile)
c.2355G>C (p.Met785Ile)
n.3609G>C
n.3807G>C
2g.214991017C>TCA350469788ABCA12c.3309G>A (p.Met1103Ile)
c.2355G>A (p.Met785Ile)
n.3609G>A
n.3807G>A
2g.214991018A>CCA350469789ABCA12c.3308T>G (p.Met1103Arg)
c.2354T>G (p.Met785Arg)
n.3608T>G
n.3806T>G
2g.214991018A>GCA350469791ABCA12c.3308T>C (p.Met1103Thr)
c.2354T>C (p.Met785Thr)
n.3608T>C
n.3806T>C
 gnomAD v4
2g.214991018A>TCA350469792ABCA12c.3308T>A (p.Met1103Lys)
c.2354T>A (p.Met785Lys)
n.3608T>A
n.3806T>A
2g.214991019T>ACA350469796ABCA12c.3307A>T (p.Met1103Leu)
c.2353A>T (p.Met785Leu)
n.3607A>T
n.3805A>T
2g.214991019T>CCA350469806ABCA12c.3307A>G (p.Met1103Val)
c.2353A>G (p.Met785Val)
n.3607A>G
n.3805A>G
 COSMIC COSMIC
2g.214991019T>GCA350469799ABCA12c.3307A>C (p.Met1103Leu)
c.2353A>C (p.Met785Leu)
n.3607A>C
n.3805A>C
2g.214991020C>ACA350469809ABCA12c.3306G>T (p.Met1102Ile)
c.2352G>T (p.Met784Ile)
n.3606G>T
n.3804G>T
2g.214991020C=CA1327165436ABCA12c.3306G= (p.Met1102=)
c.2352G= (p.Met784=)
n.3606G=
n.3804G=
2g.214991020C>GCA350469810ABCA12c.3306G>C (p.Met1102Ile)
c.2352G>C (p.Met784Ile)
n.3606G>C
n.3804G>C
2g.214991020C>TCA64827880ABCA12c.3306G>A (p.Met1102Ile)
c.2352G>A (p.Met784Ile)
n.3606G>A
n.3804G>A
 dbSNP
2g.214991021A>CCA350469811ABCA12c.3305T>G (p.Met1102Arg)
c.2351T>G (p.Met784Arg)
n.3605T>G
n.3803T>G
2g.214991021A>GCA350469813ABCA12c.3305T>C (p.Met1102Thr)
c.2351T>C (p.Met784Thr)
n.3605T>C
n.3803T>C
2g.214991021A>TCA350469815ABCA12c.3305T>A (p.Met1102Lys)
c.2351T>A (p.Met784Lys)
n.3605T>A
n.3803T>A
2g.214991022T>ACA350469818ABCA12c.3304A>T (p.Met1102Leu)
c.2350A>T (p.Met784Leu)
n.3604A>T
n.3802A>T
2g.214991022T>CCA350469820ABCA12c.3304A>G (p.Met1102Val)
c.2350A>G (p.Met784Val)
n.3604A>G
n.3802A>G
2g.214991022T>GCA350469822ABCA12c.3304A>C (p.Met1102Leu)
c.2350A>C (p.Met784Leu)
n.3604A>C
n.3802A>C
2g.214991023C>ACA350469824ABCA12c.3303G>T (p.Lys1101Asn)
c.2349G>T (p.Lys783Asn)
n.3603G>T
n.3801G>T
2g.214991023C=CA1327165437ABCA12c.3303G= (p.Lys1101=)
c.2349G= (p.Lys783=)
n.3603G=
n.3801G=
2g.214991023C>GCA350469827ABCA12c.3303G>C (p.Lys1101Asn)
c.2349G>C (p.Lys783Asn)
n.3603G>C
n.3801G>C
2g.214991023C>TCA431388422ABCA12c.3303G>A (p.Lys1101=)
c.2349G>A (p.Lys783=)
n.3603G>A
n.3801G>A
 dbSNP
2g.214991024T>ACA350469833ABCA12c.3302A>T (p.Lys1101Met)
c.2348A>T (p.Lys783Met)
n.3602A>T
n.3800A>T
2g.214991024T>CCA350469835ABCA12c.3302A>G (p.Lys1101Arg)
c.2348A>G (p.Lys783Arg)
n.3602A>G
n.3800A>G
2g.214991024T>GCA350469831ABCA12c.3302A>C (p.Lys1101Thr)
c.2348A>C (p.Lys783Thr)
n.3602A>C
n.3800A>C

Number of alleles fetched