Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.133133524delCA463017066TGc.8052del (p.Trp2685GlyfsTer26)
c.3418del
c.2451del (p.Trp818GlyfsTer26)
c.264del (p.Trp89GlyfsTer26)
n.138del
c.4707del
c.7860del (p.Trp2621GlyfsTer26)
c.7989del (p.Trp2664GlyfsTer26)
c.7986del (p.Trp2663GlyfsTer26)
c.7917del (p.Trp2640GlyfsTer26)
c.7881del (p.Trp2628GlyfsTer26)
c.7833del (p.Trp2612GlyfsTer26)
c.7791del (p.Trp2598GlyfsTer26)
 COSMIC
8g.133133523C>ACA372253173TGc.8051C>A (p.Pro2684His)
c.3417C>A
c.2450C>A (p.Pro817His)
c.263C>A (p.Pro88His)
n.137C>A
c.4706C>A
c.7859C>A (p.Pro2620His)
c.7988C>A (p.Pro2663His)
c.7985C>A (p.Pro2662His)
c.7916C>A (p.Pro2639His)
c.7880C>A (p.Pro2627His)
c.7832C>A (p.Pro2611His)
c.7790C>A (p.Pro2597His)
8g.133133523C>GCA372253175TGc.8051C>G (p.Pro2684Arg)
c.3417C>G
c.2450C>G (p.Pro817Arg)
c.263C>G (p.Pro88Arg)
n.137C>G
c.4706C>G
c.7859C>G (p.Pro2620Arg)
c.7988C>G (p.Pro2663Arg)
c.7985C>G (p.Pro2662Arg)
c.7916C>G (p.Pro2639Arg)
c.7880C>G (p.Pro2627Arg)
c.7832C>G (p.Pro2611Arg)
c.7790C>G (p.Pro2597Arg)
 gnomAD v4
8g.133133523C>TCA372253177TGc.8051C>T (p.Pro2684Leu)
c.3417C>T
c.2450C>T (p.Pro817Leu)
c.263C>T (p.Pro88Leu)
n.137C>T
c.4706C>T
c.7859C>T (p.Pro2620Leu)
c.7988C>T (p.Pro2663Leu)
c.7985C>T (p.Pro2662Leu)
c.7916C>T (p.Pro2639Leu)
c.7880C>T (p.Pro2627Leu)
c.7832C>T (p.Pro2611Leu)
c.7790C>T (p.Pro2597Leu)
8g.133133524C>ACA463017071TGc.8052C>A (p.Pro2684=)
c.3418C>A
c.2451C>A (p.Pro817=)
c.264C>A (p.Pro88=)
n.138C>A
c.4707C>A
c.7860C>A (p.Pro2620=)
c.7989C>A (p.Pro2663=)
c.7986C>A (p.Pro2662=)
c.7917C>A (p.Pro2639=)
c.7881C>A (p.Pro2627=)
c.7833C>A (p.Pro2611=)
c.7791C>A (p.Pro2597=)
8g.133133524C>GCA463017072TGc.8052C>G (p.Pro2684=)
c.3418C>G
c.2451C>G (p.Pro817=)
c.264C>G (p.Pro88=)
n.138C>G
c.4707C>G
c.7860C>G (p.Pro2620=)
c.7989C>G (p.Pro2663=)
c.7986C>G (p.Pro2662=)
c.7917C>G (p.Pro2639=)
c.7881C>G (p.Pro2627=)
c.7833C>G (p.Pro2611=)
c.7791C>G (p.Pro2597=)
 gnomAD v4
8g.133133524C>TCA463017073TGc.8052C>T (p.Pro2684=)
c.3418C>T
c.2451C>T (p.Pro817=)
c.264C>T (p.Pro88=)
n.138C>T
c.4707C>T
c.7860C>T (p.Pro2620=)
c.7989C>T (p.Pro2663=)
c.7986C>T (p.Pro2662=)
c.7917C>T (p.Pro2639=)
c.7881C>T (p.Pro2627=)
c.7833C>T (p.Pro2611=)
c.7791C>T (p.Pro2597=)
8g.133133525T>ACA372253183TGc.8053T>A (p.Trp2685Arg)
c.3419T>A
c.2452T>A (p.Trp818Arg)
c.265T>A (p.Trp89Arg)
n.139T>A
c.4708T>A
c.7861T>A (p.Trp2621Arg)
c.7990T>A (p.Trp2664Arg)
c.7987T>A (p.Trp2663Arg)
c.7918T>A (p.Trp2640Arg)
c.7882T>A (p.Trp2628Arg)
c.7834T>A (p.Trp2612Arg)
c.7792T>A (p.Trp2598Arg)
8g.133133525T>CCA372253179TGc.8053T>C (p.Trp2685Arg)
c.3419T>C
c.2452T>C (p.Trp818Arg)
c.265T>C (p.Trp89Arg)
n.139T>C
c.4708T>C
c.7861T>C (p.Trp2621Arg)
c.7990T>C (p.Trp2664Arg)
c.7987T>C (p.Trp2663Arg)
c.7918T>C (p.Trp2640Arg)
c.7882T>C (p.Trp2628Arg)
c.7834T>C (p.Trp2612Arg)
c.7792T>C (p.Trp2598Arg)
8g.133133525T>GCA372253181TGc.8053T>G (p.Trp2685Gly)
c.3419T>G
c.2452T>G (p.Trp818Gly)
c.265T>G (p.Trp89Gly)
n.139T>G
c.4708T>G
c.7861T>G (p.Trp2621Gly)
c.7990T>G (p.Trp2664Gly)
c.7987T>G (p.Trp2663Gly)
c.7918T>G (p.Trp2640Gly)
c.7882T>G (p.Trp2628Gly)
c.7834T>G (p.Trp2612Gly)
c.7792T>G (p.Trp2598Gly)
8g.133133526G>ACA372253185TGc.8054G>A (p.Trp2685Ter)
c.3420G>A
c.2453G>A (p.Trp818Ter)
c.266G>A (p.Trp89Ter)
n.140G>A
c.4709G>A
c.7862G>A (p.Trp2621Ter)
c.7991G>A (p.Trp2664Ter)
c.7988G>A (p.Trp2663Ter)
c.7919G>A (p.Trp2640Ter)
c.7883G>A (p.Trp2628Ter)
c.7835G>A (p.Trp2612Ter)
c.7793G>A (p.Trp2598Ter)
8g.133133526G>CCA372253187TGc.8054G>C (p.Trp2685Ser)
c.3420G>C
c.2453G>C (p.Trp818Ser)
c.266G>C (p.Trp89Ser)
n.140G>C
c.4709G>C
c.7862G>C (p.Trp2621Ser)
c.7991G>C (p.Trp2664Ser)
c.7988G>C (p.Trp2663Ser)
c.7919G>C (p.Trp2640Ser)
c.7883G>C (p.Trp2628Ser)
c.7835G>C (p.Trp2612Ser)
c.7793G>C (p.Trp2598Ser)
8g.133133526G>TCA372253189TGc.8054G>T (p.Trp2685Leu)
c.3420G>T
c.2453G>T (p.Trp818Leu)
c.266G>T (p.Trp89Leu)
n.140G>T
c.4709G>T
c.7862G>T (p.Trp2621Leu)
c.7991G>T (p.Trp2664Leu)
c.7988G>T (p.Trp2663Leu)
c.7919G>T (p.Trp2640Leu)
c.7883G>T (p.Trp2628Leu)
c.7835G>T (p.Trp2612Leu)
c.7793G>T (p.Trp2598Leu)
8g.133133527G>ACA372253191TGc.8055G>A (p.Trp2685Ter)
c.3421G>A
c.2454G>A (p.Trp818Ter)
c.267G>A (p.Trp89Ter)
n.141G>A
c.4710G>A
c.7863G>A (p.Trp2621Ter)
c.7992G>A (p.Trp2664Ter)
c.7989G>A (p.Trp2663Ter)
c.7920G>A (p.Trp2640Ter)
c.7884G>A (p.Trp2628Ter)
c.7836G>A (p.Trp2612Ter)
c.7794G>A (p.Trp2598Ter)
 ClinVar dbSNP
8g.133133527G>CCA372253192TGc.8055G>C (p.Trp2685Cys)
c.3421G>C
c.2454G>C (p.Trp818Cys)
c.267G>C (p.Trp89Cys)
n.141G>C
c.4710G>C
c.7863G>C (p.Trp2621Cys)
c.7992G>C (p.Trp2664Cys)
c.7989G>C (p.Trp2663Cys)
c.7920G>C (p.Trp2640Cys)
c.7884G>C (p.Trp2628Cys)
c.7836G>C (p.Trp2612Cys)
c.7794G>C (p.Trp2598Cys)
8g.133133527G=CA1821104910TGc.8055G= (p.Trp2685=)
c.3421G=
c.2454G= (p.Trp818=)
c.267G= (p.Trp89=)
n.141G=
c.4710G=
c.7863G= (p.Trp2621=)
c.7992G= (p.Trp2664=)
c.7989G= (p.Trp2663=)
c.7920G= (p.Trp2640=)
c.7884G= (p.Trp2628=)
c.7836G= (p.Trp2612=)
c.7794G= (p.Trp2598=)
8g.133133527G>TCA372253193TGc.8055G>T (p.Trp2685Cys)
c.3421G>T
c.2454G>T (p.Trp818Cys)
c.267G>T (p.Trp89Cys)
n.141G>T
c.4710G>T
c.7863G>T (p.Trp2621Cys)
c.7992G>T (p.Trp2664Cys)
c.7989G>T (p.Trp2663Cys)
c.7920G>T (p.Trp2640Cys)
c.7884G>T (p.Trp2628Cys)
c.7836G>T (p.Trp2612Cys)
c.7794G>T (p.Trp2598Cys)
 gnomAD v4
8g.133133527_133133528delinsGCCA1821104909TGc.8055_8056delinsGC (p.Trp2685=)
c.3421_3422delinsGC
c.2454_2455delinsGC (p.Trp818=)
c.267_268delinsGC (p.Trp89=)
n.141_142delinsGC
c.4710_4711delinsGC
c.7863_7864delinsGC (p.Trp2621=)
c.7992_7993delinsGC (p.Trp2664=)
c.7989_7990delinsGC (p.Trp2663=)
c.7920_7921delinsGC (p.Trp2640=)
c.7884_7885delinsGC (p.Trp2628=)
c.7836_7837delinsGC (p.Trp2612=)
c.7794_7795delinsGC (p.Trp2598=)
8g.133133528C>ACA372253195TGc.8056C>A (p.Pro2686Thr)
c.3422C>A
c.2455C>A (p.Pro819Thr)
c.268C>A (p.Pro90Thr)
n.142C>A
c.4711C>A
c.7864C>A (p.Pro2622Thr)
c.7993C>A (p.Pro2665Thr)
c.7990C>A (p.Pro2664Thr)
c.7921C>A (p.Pro2641Thr)
c.7885C>A (p.Pro2629Thr)
c.7837C>A (p.Pro2613Thr)
c.7795C>A (p.Pro2599Thr)
 ClinVar
8g.133133528C=CA1821104911TGc.8056C= (p.Pro2686=)
c.3422C=
c.2455C= (p.Pro819=)
c.268C= (p.Pro90=)
n.142C=
c.4711C=
c.7864C= (p.Pro2622=)
c.7993C= (p.Pro2665=)
c.7990C= (p.Pro2664=)
c.7921C= (p.Pro2641=)
c.7885C= (p.Pro2629=)
c.7837C= (p.Pro2613=)
c.7795C= (p.Pro2599=)
8g.133133528C>GCA372253196TGc.8056C>G (p.Pro2686Ala)
c.3422C>G
c.2455C>G (p.Pro819Ala)
c.268C>G (p.Pro90Ala)
n.142C>G
c.4711C>G
c.7864C>G (p.Pro2622Ala)
c.7993C>G (p.Pro2665Ala)
c.7990C>G (p.Pro2664Ala)
c.7921C>G (p.Pro2641Ala)
c.7885C>G (p.Pro2629Ala)
c.7837C>G (p.Pro2613Ala)
c.7795C>G (p.Pro2599Ala)
 dbSNP
8g.133133528C>TCA372253198TGc.8056C>T (p.Pro2686Ser)
c.3422C>T
c.2455C>T (p.Pro819Ser)
c.268C>T (p.Pro90Ser)
n.142C>T
c.4711C>T
c.7864C>T (p.Pro2622Ser)
c.7993C>T (p.Pro2665Ser)
c.7990C>T (p.Pro2664Ser)
c.7921C>T (p.Pro2641Ser)
c.7885C>T (p.Pro2629Ser)
c.7837C>T (p.Pro2613Ser)
c.7795C>T (p.Pro2599Ser)
 COSMIC
8g.133133529delCA585277894TGc.8057del (p.Pro2686LeufsTer25)
c.3423del
c.2456del (p.Pro819LeufsTer25)
c.269del (p.Pro90LeufsTer25)
n.143del
c.4712del
c.7865del (p.Pro2622LeufsTer25)
c.7994del (p.Pro2665LeufsTer25)
c.7991del (p.Pro2664LeufsTer25)
c.7922del (p.Pro2641LeufsTer25)
c.7886del (p.Pro2629LeufsTer25)
c.7838del (p.Pro2613LeufsTer25)
c.7796del (p.Pro2599LeufsTer25)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.133133529C>ACA372253200TGc.8057C>A (p.Pro2686His)
c.3423C>A
c.2456C>A (p.Pro819His)
c.269C>A (p.Pro90His)
n.143C>A
c.4712C>A
c.7865C>A (p.Pro2622His)
c.7994C>A (p.Pro2665His)
c.7991C>A (p.Pro2664His)
c.7922C>A (p.Pro2641His)
c.7886C>A (p.Pro2629His)
c.7838C>A (p.Pro2613His)
c.7796C>A (p.Pro2599His)
8g.133133529C>GCA372253201TGc.8057C>G (p.Pro2686Arg)
c.3423C>G
c.2456C>G (p.Pro819Arg)
c.269C>G (p.Pro90Arg)
n.143C>G
c.4712C>G
c.7865C>G (p.Pro2622Arg)
c.7994C>G (p.Pro2665Arg)
c.7991C>G (p.Pro2664Arg)
c.7922C>G (p.Pro2641Arg)
c.7886C>G (p.Pro2629Arg)
c.7838C>G (p.Pro2613Arg)
c.7796C>G (p.Pro2599Arg)
8g.133133529C>TCA372253202TGc.8057C>T (p.Pro2686Leu)
c.3423C>T
c.2456C>T (p.Pro819Leu)
c.269C>T (p.Pro90Leu)
n.143C>T
c.4712C>T
c.7865C>T (p.Pro2622Leu)
c.7994C>T (p.Pro2665Leu)
c.7991C>T (p.Pro2664Leu)
c.7922C>T (p.Pro2641Leu)
c.7886C>T (p.Pro2629Leu)
c.7838C>T (p.Pro2613Leu)
c.7796C>T (p.Pro2599Leu)
8g.133133530T>ACA463017083TGc.8058T>A (p.Pro2686=)
c.3424T>A
c.2457T>A (p.Pro819=)
c.270T>A (p.Pro90=)
n.144T>A
c.4713T>A
c.7866T>A (p.Pro2622=)
c.7995T>A (p.Pro2665=)
c.7992T>A (p.Pro2664=)
c.7923T>A (p.Pro2641=)
c.7887T>A (p.Pro2629=)
c.7839T>A (p.Pro2613=)
c.7797T>A (p.Pro2599=)
8g.133133530T>CCA4885881TGc.8058T>C (p.Pro2686=)
c.3424T>C
c.2457T>C (p.Pro819=)
c.270T>C (p.Pro90=)
n.144T>C
c.4713T>C
c.7866T>C (p.Pro2622=)
c.7995T>C (p.Pro2665=)
c.7992T>C (p.Pro2664=)
c.7923T>C (p.Pro2641=)
c.7887T>C (p.Pro2629=)
c.7839T>C (p.Pro2613=)
c.7797T>C (p.Pro2599=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133530T>GCA463017085TGc.8058T>G (p.Pro2686=)
c.3424T>G
c.2457T>G (p.Pro819=)
c.270T>G (p.Pro90=)
n.144T>G
c.4713T>G
c.7866T>G (p.Pro2622=)
c.7995T>G (p.Pro2665=)
c.7992T>G (p.Pro2664=)
c.7923T>G (p.Pro2641=)
c.7887T>G (p.Pro2629=)
c.7839T>G (p.Pro2613=)
c.7797T>G (p.Pro2599=)
8g.133133530T=CA1821104912TGc.8058T= (p.Pro2686=)
c.3424T=
c.2457T= (p.Pro819=)
c.270T= (p.Pro90=)
n.144T=
c.4713T=
c.7866T= (p.Pro2622=)
c.7995T= (p.Pro2665=)
c.7992T= (p.Pro2664=)
c.7923T= (p.Pro2641=)
c.7887T= (p.Pro2629=)
c.7839T= (p.Pro2613=)
c.7797T= (p.Pro2599=)
8g.133133531G>ACA372253207TGc.8059G>A (p.Asp2687Asn)
c.3425G>A
c.2458G>A (p.Asp820Asn)
c.271G>A (p.Asp91Asn)
n.145G>A
c.4714G>A
c.7867G>A (p.Asp2623Asn)
c.7996G>A (p.Asp2666Asn)
c.7993G>A (p.Asp2665Asn)
c.7924G>A (p.Asp2642Asn)
c.7888G>A (p.Asp2630Asn)
c.7840G>A (p.Asp2614Asn)
c.7798G>A (p.Asp2600Asn)
8g.133133531G>CCA372253209TGc.8059G>C (p.Asp2687His)
c.3425G>C
c.2458G>C (p.Asp820His)
c.271G>C (p.Asp91His)
n.145G>C
c.4714G>C
c.7867G>C (p.Asp2623His)
c.7996G>C (p.Asp2666His)
c.7993G>C (p.Asp2665His)
c.7924G>C (p.Asp2642His)
c.7888G>C (p.Asp2630His)
c.7840G>C (p.Asp2614His)
c.7798G>C (p.Asp2600His)
 COSMIC
8g.133133531G>TCA372253206TGc.8059G>T (p.Asp2687Tyr)
c.3425G>T
c.2458G>T (p.Asp820Tyr)
c.271G>T (p.Asp91Tyr)
n.145G>T
c.4714G>T
c.7867G>T (p.Asp2623Tyr)
c.7996G>T (p.Asp2666Tyr)
c.7993G>T (p.Asp2665Tyr)
c.7924G>T (p.Asp2642Tyr)
c.7888G>T (p.Asp2630Tyr)
c.7840G>T (p.Asp2614Tyr)
c.7798G>T (p.Asp2600Tyr)
8g.133133532A=CA1821104913TGc.8060A= (p.Asp2687=)
c.3426A=
c.2459A= (p.Asp820=)
c.272A= (p.Asp91=)
n.146A=
c.4715A=
c.7868A= (p.Asp2623=)
c.7997A= (p.Asp2666=)
c.7994A= (p.Asp2665=)
c.7925A= (p.Asp2642=)
c.7889A= (p.Asp2630=)
c.7841A= (p.Asp2614=)
c.7799A= (p.Asp2600=)
8g.133133532A>CCA372253214TGc.8060A>C (p.Asp2687Ala)
c.3426A>C
c.2459A>C (p.Asp820Ala)
c.272A>C (p.Asp91Ala)
n.146A>C
c.4715A>C
c.7868A>C (p.Asp2623Ala)
c.7997A>C (p.Asp2666Ala)
c.7994A>C (p.Asp2665Ala)
c.7925A>C (p.Asp2642Ala)
c.7889A>C (p.Asp2630Ala)
c.7841A>C (p.Asp2614Ala)
c.7799A>C (p.Asp2600Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.133133532A>GCA4885882TGc.8060A>G (p.Asp2687Gly)
c.3426A>G
c.2459A>G (p.Asp820Gly)
c.272A>G (p.Asp91Gly)
n.146A>G
c.4715A>G
c.7868A>G (p.Asp2623Gly)
c.7997A>G (p.Asp2666Gly)
c.7994A>G (p.Asp2665Gly)
c.7925A>G (p.Asp2642Gly)
c.7889A>G (p.Asp2630Gly)
c.7841A>G (p.Asp2614Gly)
c.7799A>G (p.Asp2600Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133532A>TCA372253212TGc.8060A>T (p.Asp2687Val)
c.3426A>T
c.2459A>T (p.Asp820Val)
c.272A>T (p.Asp91Val)
n.146A>T
c.4715A>T
c.7868A>T (p.Asp2623Val)
c.7997A>T (p.Asp2666Val)
c.7994A>T (p.Asp2665Val)
c.7925A>T (p.Asp2642Val)
c.7889A>T (p.Asp2630Val)
c.7841A>T (p.Asp2614Val)
c.7799A>T (p.Asp2600Val)
 COSMIC
8g.133133533C>ACA186356683TGc.8061C>A (p.Asp2687Glu)
c.3427C>A
c.2460C>A (p.Asp820Glu)
c.273C>A (p.Asp91Glu)
n.147C>A
c.4716C>A
c.7869C>A (p.Asp2623Glu)
c.7998C>A (p.Asp2666Glu)
c.7995C>A (p.Asp2665Glu)
c.7926C>A (p.Asp2642Glu)
c.7890C>A (p.Asp2630Glu)
c.7842C>A (p.Asp2614Glu)
c.7800C>A (p.Asp2600Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.133133533C=CA1821104914TGc.8061C= (p.Asp2687=)
c.3427C=
c.2460C= (p.Asp820=)
c.273C= (p.Asp91=)
n.147C=
c.4716C=
c.7869C= (p.Asp2623=)
c.7998C= (p.Asp2666=)
c.7995C= (p.Asp2665=)
c.7926C= (p.Asp2642=)
c.7890C= (p.Asp2630=)
c.7842C= (p.Asp2614=)
c.7800C= (p.Asp2600=)
8g.133133533C>GCA372253217TGc.8061C>G (p.Asp2687Glu)
c.3427C>G
c.2460C>G (p.Asp820Glu)
c.273C>G (p.Asp91Glu)
n.147C>G
c.4716C>G
c.7869C>G (p.Asp2623Glu)
c.7998C>G (p.Asp2666Glu)
c.7995C>G (p.Asp2665Glu)
c.7926C>G (p.Asp2642Glu)
c.7890C>G (p.Asp2630Glu)
c.7842C>G (p.Asp2614Glu)
c.7800C>G (p.Asp2600Glu)
8g.133133533C>TCA186356684TGc.8061C>T (p.Asp2687=)
c.3427C>T
c.2460C>T (p.Asp820=)
c.273C>T (p.Asp91=)
n.147C>T
c.4716C>T
c.7869C>T (p.Asp2623=)
c.7998C>T (p.Asp2666=)
c.7995C>T (p.Asp2665=)
c.7926C>T (p.Asp2642=)
c.7890C>T (p.Asp2630=)
c.7842C>T (p.Asp2614=)
c.7800C>T (p.Asp2600=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133534T>ACA372253221TGc.8062T>A (p.Phe2688Ile)
c.3428T>A
c.2461T>A (p.Phe821Ile)
c.274T>A (p.Phe92Ile)
n.148T>A
c.4717T>A
c.7870T>A (p.Phe2624Ile)
c.7999T>A (p.Phe2667Ile)
c.7996T>A (p.Phe2666Ile)
c.7927T>A (p.Phe2643Ile)
c.7891T>A (p.Phe2631Ile)
c.7843T>A (p.Phe2615Ile)
c.7801T>A (p.Phe2601Ile)
8g.133133534T>CCA372253222TGc.8062T>C (p.Phe2688Leu)
c.3428T>C
c.2461T>C (p.Phe821Leu)
c.274T>C (p.Phe92Leu)
n.148T>C
c.4717T>C
c.7870T>C (p.Phe2624Leu)
c.7999T>C (p.Phe2667Leu)
c.7996T>C (p.Phe2666Leu)
c.7927T>C (p.Phe2643Leu)
c.7891T>C (p.Phe2631Leu)
c.7843T>C (p.Phe2615Leu)
c.7801T>C (p.Phe2601Leu)
8g.133133534T>GCA372253224TGc.8062T>G (p.Phe2688Val)
c.3428T>G
c.2461T>G (p.Phe821Val)
c.274T>G (p.Phe92Val)
n.148T>G
c.4717T>G
c.7870T>G (p.Phe2624Val)
c.7999T>G (p.Phe2667Val)
c.7996T>G (p.Phe2666Val)
c.7927T>G (p.Phe2643Val)
c.7891T>G (p.Phe2631Val)
c.7843T>G (p.Phe2615Val)
c.7801T>G (p.Phe2601Val)
8g.133133535T>ACA372253227TGc.8063T>A (p.Phe2688Tyr)
c.3429T>A
c.2462T>A (p.Phe821Tyr)
c.275T>A (p.Phe92Tyr)
n.149T>A
c.4718T>A
c.7871T>A (p.Phe2624Tyr)
c.8000T>A (p.Phe2667Tyr)
c.7997T>A (p.Phe2666Tyr)
c.7928T>A (p.Phe2643Tyr)
c.7892T>A (p.Phe2631Tyr)
c.7844T>A (p.Phe2615Tyr)
c.7802T>A (p.Phe2601Tyr)
8g.133133535T>CCA372253228TGc.8063T>C (p.Phe2688Ser)
c.3429T>C
c.2462T>C (p.Phe821Ser)
c.275T>C (p.Phe92Ser)
n.149T>C
c.4718T>C
c.7871T>C (p.Phe2624Ser)
c.8000T>C (p.Phe2667Ser)
c.7997T>C (p.Phe2666Ser)
c.7928T>C (p.Phe2643Ser)
c.7892T>C (p.Phe2631Ser)
c.7844T>C (p.Phe2615Ser)
c.7802T>C (p.Phe2601Ser)
8g.133133535T>GCA372253230TGc.8063T>G (p.Phe2688Cys)
c.3429T>G
c.2462T>G (p.Phe821Cys)
c.275T>G (p.Phe92Cys)
n.149T>G
c.4718T>G
c.7871T>G (p.Phe2624Cys)
c.8000T>G (p.Phe2667Cys)
c.7997T>G (p.Phe2666Cys)
c.7928T>G (p.Phe2643Cys)
c.7892T>G (p.Phe2631Cys)
c.7844T>G (p.Phe2615Cys)
c.7802T>G (p.Phe2601Cys)
8g.133133536T>ACA372253232TGc.8064T>A (p.Phe2688Leu)
c.3430T>A
c.2463T>A (p.Phe821Leu)
c.276T>A (p.Phe92Leu)
n.150T>A
c.4719T>A
c.7872T>A (p.Phe2624Leu)
c.8001T>A (p.Phe2667Leu)
c.7998T>A (p.Phe2666Leu)
c.7929T>A (p.Phe2643Leu)
c.7893T>A (p.Phe2631Leu)
c.7845T>A (p.Phe2615Leu)
c.7803T>A (p.Phe2601Leu)
8g.133133536T>CCA463017097TGc.8064T>C (p.Phe2688=)
c.3430T>C
c.2463T>C (p.Phe821=)
c.276T>C (p.Phe92=)
n.150T>C
c.4719T>C
c.7872T>C (p.Phe2624=)
c.8001T>C (p.Phe2667=)
c.7998T>C (p.Phe2666=)
c.7929T>C (p.Phe2643=)
c.7893T>C (p.Phe2631=)
c.7845T>C (p.Phe2615=)
c.7803T>C (p.Phe2601=)
 dbSNP
8g.133133536T>GCA372253234TGc.8064T>G (p.Phe2688Leu)
c.3430T>G
c.2463T>G (p.Phe821Leu)
c.276T>G (p.Phe92Leu)
n.150T>G
c.4719T>G
c.7872T>G (p.Phe2624Leu)
c.8001T>G (p.Phe2667Leu)
c.7998T>G (p.Phe2666Leu)
c.7929T>G (p.Phe2643Leu)
c.7893T>G (p.Phe2631Leu)
c.7845T>G (p.Phe2615Leu)
c.7803T>G (p.Phe2601Leu)
8g.133133536T=CA1821104915TGc.8064T= (p.Phe2688=)
c.3430T=
c.2463T= (p.Phe821=)
c.276T= (p.Phe92=)
n.150T=
c.4719T=
c.7872T= (p.Phe2624=)
c.8001T= (p.Phe2667=)
c.7998T= (p.Phe2666=)
c.7929T= (p.Phe2643=)
c.7893T= (p.Phe2631=)
c.7845T= (p.Phe2615=)
c.7803T= (p.Phe2601=)
8g.133133537G>ACA372253236TGc.8065G>A (p.Val2689Ile)
c.3431G>A
c.2464G>A (p.Val822Ile)
c.277G>A (p.Val93Ile)
n.151G>A
c.4720G>A
c.7873G>A (p.Val2625Ile)
c.8002G>A (p.Val2668Ile)
c.7999G>A (p.Val2667Ile)
c.7930G>A (p.Val2644Ile)
c.7894G>A (p.Val2632Ile)
c.7846G>A (p.Val2616Ile)
c.7804G>A (p.Val2602Ile)
 gnomAD v4
8g.133133537G>CCA4885883TGc.8065G>C (p.Val2689Leu)
c.3431G>C
c.2464G>C (p.Val822Leu)
c.277G>C (p.Val93Leu)
n.151G>C
c.4720G>C
c.7873G>C (p.Val2625Leu)
c.8002G>C (p.Val2668Leu)
c.7999G>C (p.Val2667Leu)
c.7930G>C (p.Val2644Leu)
c.7894G>C (p.Val2632Leu)
c.7846G>C (p.Val2616Leu)
c.7804G>C (p.Val2602Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133537G=CA1821104916TGc.8065G= (p.Val2689=)
c.3431G=
c.2464G= (p.Val822=)
c.277G= (p.Val93=)
n.151G=
c.4720G=
c.7873G= (p.Val2625=)
c.8002G= (p.Val2668=)
c.7999G= (p.Val2667=)
c.7930G= (p.Val2644=)
c.7894G= (p.Val2632=)
c.7846G= (p.Val2616=)
c.7804G= (p.Val2602=)
8g.133133537G>TCA372253237TGc.8065G>T (p.Val2689Leu)
c.3431G>T
c.2464G>T (p.Val822Leu)
c.277G>T (p.Val93Leu)
n.151G>T
c.4720G>T
c.7873G>T (p.Val2625Leu)
c.8002G>T (p.Val2668Leu)
c.7999G>T (p.Val2667Leu)
c.7930G>T (p.Val2644Leu)
c.7894G>T (p.Val2632Leu)
c.7846G>T (p.Val2616Leu)
c.7804G>T (p.Val2602Leu)
 dbSNP gnomAD v4
8g.133133538T>ACA372253241TGc.8066T>A (p.Val2689Glu)
c.3432T>A
c.2465T>A (p.Val822Glu)
c.278T>A (p.Val93Glu)
n.152T>A
c.4721T>A
c.7874T>A (p.Val2625Glu)
c.8003T>A (p.Val2668Glu)
c.8000T>A (p.Val2667Glu)
c.7931T>A (p.Val2644Glu)
c.7895T>A (p.Val2632Glu)
c.7847T>A (p.Val2616Glu)
c.7805T>A (p.Val2602Glu)
8g.133133538T>CCA372253242TGc.8066T>C (p.Val2689Ala)
c.3432T>C
c.2465T>C (p.Val822Ala)
c.278T>C (p.Val93Ala)
n.152T>C
c.4721T>C
c.7874T>C (p.Val2625Ala)
c.8003T>C (p.Val2668Ala)
c.8000T>C (p.Val2667Ala)
c.7931T>C (p.Val2644Ala)
c.7895T>C (p.Val2632Ala)
c.7847T>C (p.Val2616Ala)
c.7805T>C (p.Val2602Ala)
8g.133133538T>GCA372253244TGc.8066T>G (p.Val2689Gly)
c.3432T>G
c.2465T>G (p.Val822Gly)
c.278T>G (p.Val93Gly)
n.152T>G
c.4721T>G
c.7874T>G (p.Val2625Gly)
c.8003T>G (p.Val2668Gly)
c.8000T>G (p.Val2667Gly)
c.7931T>G (p.Val2644Gly)
c.7895T>G (p.Val2632Gly)
c.7847T>G (p.Val2616Gly)
c.7805T>G (p.Val2602Gly)
8g.133133539A=CA1821104918TGc.8067A= (p.Val2689=)
c.3433A=
c.2466A= (p.Val822=)
c.279A= (p.Val93=)
n.153A=
c.4722A=
c.7875A= (p.Val2625=)
c.8004A= (p.Val2668=)
c.8001A= (p.Val2667=)
c.7932A= (p.Val2644=)
c.7896A= (p.Val2632=)
c.7848A= (p.Val2616=)
c.7806A= (p.Val2602=)
8g.133133539A>CCA463017106TGc.8067A>C (p.Val2689=)
c.3433A>C
c.2466A>C (p.Val822=)
c.279A>C (p.Val93=)
n.153A>C
c.4722A>C
c.7875A>C (p.Val2625=)
c.8004A>C (p.Val2668=)
c.8001A>C (p.Val2667=)
c.7932A>C (p.Val2644=)
c.7896A>C (p.Val2632=)
c.7848A>C (p.Val2616=)
c.7806A>C (p.Val2602=)
8g.133133539A>GCA463017105TGc.8067A>G (p.Val2689=)
c.3433A>G
c.2466A>G (p.Val822=)
c.279A>G (p.Val93=)
n.153A>G
c.4722A>G
c.7875A>G (p.Val2625=)
c.8004A>G (p.Val2668=)
c.8001A>G (p.Val2667=)
c.7932A>G (p.Val2644=)
c.7896A>G (p.Val2632=)
c.7848A>G (p.Val2616=)
c.7806A>G (p.Val2602=)
 dbSNP gnomAD v4
8g.133133539A>TCA463017104TGc.8067A>T (p.Val2689=)
c.3433A>T
c.2466A>T (p.Val822=)
c.279A>T (p.Val93=)
n.153A>T
c.4722A>T
c.7875A>T (p.Val2625=)
c.8004A>T (p.Val2668=)
c.8001A>T (p.Val2667=)
c.7932A>T (p.Val2644=)
c.7896A>T (p.Val2632=)
c.7848A>T (p.Val2616=)
c.7806A>T (p.Val2602=)
8g.133133539_133133540delinsACCA1821104917TGc.8067_8068delinsAC (p.Val2689=)
c.3433_3434delinsAC
c.2466_2467delinsAC (p.Val822=)
c.279_280delinsAC (p.Val93=)
n.153_154delinsAC
c.4722_4723delinsAC
c.7875_7876delinsAC (p.Val2625=)
c.8004_8005delinsAC (p.Val2668=)
c.8001_8002delinsAC (p.Val2667=)
c.7932_7933delinsAC (p.Val2644=)
c.7896_7897delinsAC (p.Val2632=)
c.7848_7849delinsAC (p.Val2616=)
c.7806_7807delinsAC (p.Val2602=)
8g.133133540C>ACA372253246TGc.8068C>A (p.Pro2690Thr)
c.3434C>A
c.2467C>A (p.Pro823Thr)
c.280C>A (p.Pro94Thr)
n.154C>A
c.4723C>A
c.7876C>A (p.Pro2626Thr)
c.8005C>A (p.Pro2669Thr)
c.8002C>A (p.Pro2668Thr)
c.7933C>A (p.Pro2645Thr)
c.7897C>A (p.Pro2633Thr)
c.7849C>A (p.Pro2617Thr)
c.7807C>A (p.Pro2603Thr)
 gnomAD v4
8g.133133540C>GCA372253248TGc.8068C>G (p.Pro2690Ala)
c.3434C>G
c.2467C>G (p.Pro823Ala)
c.280C>G (p.Pro94Ala)
n.154C>G
c.4723C>G
c.7876C>G (p.Pro2626Ala)
c.8005C>G (p.Pro2669Ala)
c.8002C>G (p.Pro2668Ala)
c.7933C>G (p.Pro2645Ala)
c.7897C>G (p.Pro2633Ala)
c.7849C>G (p.Pro2617Ala)
c.7807C>G (p.Pro2603Ala)
8g.133133540C>TCA372253250TGc.8068C>T (p.Pro2690Ser)
c.3434C>T
c.2467C>T (p.Pro823Ser)
c.280C>T (p.Pro94Ser)
n.154C>T
c.4723C>T
c.7876C>T (p.Pro2626Ser)
c.8005C>T (p.Pro2669Ser)
c.8002C>T (p.Pro2668Ser)
c.7933C>T (p.Pro2645Ser)
c.7897C>T (p.Pro2633Ser)
c.7849C>T (p.Pro2617Ser)
c.7807C>T (p.Pro2603Ser)
8g.133133543delCA4885884TGc.8071del (p.Arg2691ValfsTer20)
c.3437del
c.2470del (p.Arg824ValfsTer20)
c.283del (p.Arg95ValfsTer20)
n.157del
c.4726del
c.7879del (p.Arg2627ValfsTer20)
c.8008del (p.Arg2670ValfsTer20)
c.8005del (p.Arg2669ValfsTer20)
c.7936del (p.Arg2646ValfsTer20)
c.7900del (p.Arg2634ValfsTer20)
c.7852del (p.Arg2618ValfsTer20)
c.7810del (p.Arg2604ValfsTer20)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133541C>ACA372253252TGc.8069C>A (p.Pro2690His)
c.3435C>A
c.2468C>A (p.Pro823His)
c.281C>A (p.Pro94His)
n.155C>A
c.4724C>A
c.7877C>A (p.Pro2626His)
c.8006C>A (p.Pro2669His)
c.8003C>A (p.Pro2668His)
c.7934C>A (p.Pro2645His)
c.7898C>A (p.Pro2633His)
c.7850C>A (p.Pro2617His)
c.7808C>A (p.Pro2603His)
 gnomAD v4
8g.133133541C=CA1821104919TGc.8069C= (p.Pro2690=)
c.3435C=
c.2468C= (p.Pro823=)
c.281C= (p.Pro94=)
n.155C=
c.4724C=
c.7877C= (p.Pro2626=)
c.8006C= (p.Pro2669=)
c.8003C= (p.Pro2668=)
c.7934C= (p.Pro2645=)
c.7898C= (p.Pro2633=)
c.7850C= (p.Pro2617=)
c.7808C= (p.Pro2603=)
8g.133133541C>GCA186356686TGc.8069C>G (p.Pro2690Arg)
c.3435C>G
c.2468C>G (p.Pro823Arg)
c.281C>G (p.Pro94Arg)
n.155C>G
c.4724C>G
c.7877C>G (p.Pro2626Arg)
c.8006C>G (p.Pro2669Arg)
c.8003C>G (p.Pro2668Arg)
c.7934C>G (p.Pro2645Arg)
c.7898C>G (p.Pro2633Arg)
c.7850C>G (p.Pro2617Arg)
c.7808C>G (p.Pro2603Arg)
 dbSNP gnomAD v4
8g.133133541C>TCA372253254TGc.8069C>T (p.Pro2690Leu)
c.3435C>T
c.2468C>T (p.Pro823Leu)
c.281C>T (p.Pro94Leu)
n.155C>T
c.4724C>T
c.7877C>T (p.Pro2626Leu)
c.8006C>T (p.Pro2669Leu)
c.8003C>T (p.Pro2668Leu)
c.7934C>T (p.Pro2645Leu)
c.7898C>T (p.Pro2633Leu)
c.7850C>T (p.Pro2617Leu)
c.7808C>T (p.Pro2603Leu)
8g.133133541_133133542delinsTTCA645557842TGc.8069_8070delinsTT (p.Pro2690Leu)
c.3435_3436delinsTT
c.2468_2469delinsTT (p.Pro823Leu)
c.281_282delinsTT (p.Pro94Leu)
n.155_156delinsTT
c.4724_4725delinsTT
c.7877_7878delinsTT (p.Pro2626Leu)
c.8006_8007delinsTT (p.Pro2669Leu)
c.8003_8004delinsTT (p.Pro2668Leu)
c.7934_7935delinsTT (p.Pro2645Leu)
c.7898_7899delinsTT (p.Pro2633Leu)
c.7850_7851delinsTT (p.Pro2617Leu)
c.7808_7809delinsTT (p.Pro2603Leu)
 COSMIC
8g.133133542C>ACA463017113TGc.8070C>A (p.Pro2690=)
c.3436C>A
c.2469C>A (p.Pro823=)
c.282C>A (p.Pro94=)
n.156C>A
c.4725C>A
c.7878C>A (p.Pro2626=)
c.8007C>A (p.Pro2669=)
c.8004C>A (p.Pro2668=)
c.7935C>A (p.Pro2645=)
c.7899C>A (p.Pro2633=)
c.7851C>A (p.Pro2617=)
c.7809C>A (p.Pro2603=)
8g.133133542C=CA1821104920TGc.8070C= (p.Pro2690=)
c.3436C=
c.2469C= (p.Pro823=)
c.282C= (p.Pro94=)
n.156C=
c.4725C=
c.7878C= (p.Pro2626=)
c.8007C= (p.Pro2669=)
c.8004C= (p.Pro2668=)
c.7935C= (p.Pro2645=)
c.7899C= (p.Pro2633=)
c.7851C= (p.Pro2617=)
c.7809C= (p.Pro2603=)
8g.133133542C>GCA4885885TGc.8070C>G (p.Pro2690=)
c.3436C>G
c.2469C>G (p.Pro823=)
c.282C>G (p.Pro94=)
n.156C>G
c.4725C>G
c.7878C>G (p.Pro2626=)
c.8007C>G (p.Pro2669=)
c.8004C>G (p.Pro2668=)
c.7935C>G (p.Pro2645=)
c.7899C>G (p.Pro2633=)
c.7851C>G (p.Pro2617=)
c.7809C>G (p.Pro2603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133542C>TCA463017114TGc.8070C>T (p.Pro2690=)
c.3436C>T
c.2469C>T (p.Pro823=)
c.282C>T (p.Pro94=)
n.156C>T
c.4725C>T
c.7878C>T (p.Pro2626=)
c.8007C>T (p.Pro2669=)
c.8004C>T (p.Pro2668=)
c.7935C>T (p.Pro2645=)
c.7899C>T (p.Pro2633=)
c.7851C>T (p.Pro2617=)
c.7809C>T (p.Pro2603=)
 COSMIC
8g.133133543C>ACA372253257TGc.8071C>A (p.Arg2691Ser)
c.3437C>A
c.2470C>A (p.Arg824Ser)
c.283C>A (p.Arg95Ser)
n.157C>A
c.4726C>A
c.7879C>A (p.Arg2627Ser)
c.8008C>A (p.Arg2670Ser)
c.8005C>A (p.Arg2669Ser)
c.7936C>A (p.Arg2646Ser)
c.7900C>A (p.Arg2634Ser)
c.7852C>A (p.Arg2618Ser)
c.7810C>A (p.Arg2604Ser)
8g.133133543C=CA1821104921TGc.8071C= (p.Arg2691=)
c.3437C=
c.2470C= (p.Arg824=)
c.283C= (p.Arg95=)
n.157C=
c.4726C=
c.7879C= (p.Arg2627=)
c.8008C= (p.Arg2670=)
c.8005C= (p.Arg2669=)
c.7936C= (p.Arg2646=)
c.7900C= (p.Arg2634=)
c.7852C= (p.Arg2618=)
c.7810C= (p.Arg2604=)
8g.133133543C>GCA372253258TGc.8071C>G (p.Arg2691Gly)
c.3437C>G
c.2470C>G (p.Arg824Gly)
c.283C>G (p.Arg95Gly)
n.157C>G
c.4726C>G
c.7879C>G (p.Arg2627Gly)
c.8008C>G (p.Arg2670Gly)
c.8005C>G (p.Arg2669Gly)
c.7936C>G (p.Arg2646Gly)
c.7900C>G (p.Arg2634Gly)
c.7852C>G (p.Arg2618Gly)
c.7810C>G (p.Arg2604Gly)
 gnomAD v4
8g.133133543C>TCA4885886TGc.8071C>T (p.Arg2691Cys)
c.3437C>T
c.2470C>T (p.Arg824Cys)
c.283C>T (p.Arg95Cys)
n.157C>T
c.4726C>T
c.7879C>T (p.Arg2627Cys)
c.8008C>T (p.Arg2670Cys)
c.8005C>T (p.Arg2669Cys)
c.7936C>T (p.Arg2646Cys)
c.7900C>T (p.Arg2634Cys)
c.7852C>T (p.Arg2618Cys)
c.7810C>T (p.Arg2604Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133544G>ACA4885887TGc.8072G>A (p.Arg2691His)
c.3438G>A
c.2471G>A (p.Arg824His)
c.284G>A (p.Arg95His)
n.158G>A
c.4727G>A
c.7880G>A (p.Arg2627His)
c.8009G>A (p.Arg2670His)
c.8006G>A (p.Arg2669His)
c.7937G>A (p.Arg2646His)
c.7901G>A (p.Arg2634His)
c.7853G>A (p.Arg2618His)
c.7811G>A (p.Arg2604His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133544G>CCA372253261TGc.8072G>C (p.Arg2691Pro)
c.3438G>C
c.2471G>C (p.Arg824Pro)
c.284G>C (p.Arg95Pro)
n.158G>C
c.4727G>C
c.7880G>C (p.Arg2627Pro)
c.8009G>C (p.Arg2670Pro)
c.8006G>C (p.Arg2669Pro)
c.7937G>C (p.Arg2646Pro)
c.7901G>C (p.Arg2634Pro)
c.7853G>C (p.Arg2618Pro)
c.7811G>C (p.Arg2604Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.133133544G=CA1821104922TGc.8072G= (p.Arg2691=)
c.3438G=
c.2471G= (p.Arg824=)
c.284G= (p.Arg95=)
n.158G=
c.4727G=
c.7880G= (p.Arg2627=)
c.8009G= (p.Arg2670=)
c.8006G= (p.Arg2669=)
c.7937G= (p.Arg2646=)
c.7901G= (p.Arg2634=)
c.7853G= (p.Arg2618=)
c.7811G= (p.Arg2604=)
8g.133133544G>TCA372253263TGc.8072G>T (p.Arg2691Leu)
c.3438G>T
c.2471G>T (p.Arg824Leu)
c.284G>T (p.Arg95Leu)
n.158G>T
c.4727G>T
c.7880G>T (p.Arg2627Leu)
c.8009G>T (p.Arg2670Leu)
c.8006G>T (p.Arg2669Leu)
c.7937G>T (p.Arg2646Leu)
c.7901G>T (p.Arg2634Leu)
c.7853G>T (p.Arg2618Leu)
c.7811G>T (p.Arg2604Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133545T>ACA463017120TGc.8073T>A (p.Arg2691=)
c.3439T>A
c.2472T>A (p.Arg824=)
c.285T>A (p.Arg95=)
n.159T>A
c.4728T>A
c.7881T>A (p.Arg2627=)
c.8010T>A (p.Arg2670=)
c.8007T>A (p.Arg2669=)
c.7938T>A (p.Arg2646=)
c.7902T>A (p.Arg2634=)
c.7854T>A (p.Arg2618=)
c.7812T>A (p.Arg2604=)
8g.133133545T>CCA463017121TGc.8073T>C (p.Arg2691=)
c.3439T>C
c.2472T>C (p.Arg824=)
c.285T>C (p.Arg95=)
n.159T>C
c.4728T>C
c.7881T>C (p.Arg2627=)
c.8010T>C (p.Arg2670=)
c.8007T>C (p.Arg2669=)
c.7938T>C (p.Arg2646=)
c.7902T>C (p.Arg2634=)
c.7854T>C (p.Arg2618=)
c.7812T>C (p.Arg2604=)
 ClinVar gnomAD v4
8g.133133545T>GCA463017122TGc.8073T>G (p.Arg2691=)
c.3439T>G
c.2472T>G (p.Arg824=)
c.285T>G (p.Arg95=)
n.159T>G
c.4728T>G
c.7881T>G (p.Arg2627=)
c.8010T>G (p.Arg2670=)
c.8007T>G (p.Arg2669=)
c.7938T>G (p.Arg2646=)
c.7902T>G (p.Arg2634=)
c.7854T>G (p.Arg2618=)
c.7812T>G (p.Arg2604=)
8g.133133546G>ACA372253265TGc.8074G>A (p.Ala2692Thr)
c.3440G>A
c.2473G>A (p.Ala825Thr)
c.286G>A (p.Ala96Thr)
n.160G>A
c.4729G>A
c.7882G>A (p.Ala2628Thr)
c.8011G>A (p.Ala2671Thr)
c.8008G>A (p.Ala2670Thr)
c.7939G>A (p.Ala2647Thr)
c.7903G>A (p.Ala2635Thr)
c.7855G>A (p.Ala2619Thr)
c.7813G>A (p.Ala2605Thr)
8g.133133546G>CCA372253266TGc.8074G>C (p.Ala2692Pro)
c.3440G>C
c.2473G>C (p.Ala825Pro)
c.286G>C (p.Ala96Pro)
n.160G>C
c.4729G>C
c.7882G>C (p.Ala2628Pro)
c.8011G>C (p.Ala2671Pro)
c.8008G>C (p.Ala2670Pro)
c.7939G>C (p.Ala2647Pro)
c.7903G>C (p.Ala2635Pro)
c.7855G>C (p.Ala2619Pro)
c.7813G>C (p.Ala2605Pro)
8g.133133546G>TCA372253268TGc.8074G>T (p.Ala2692Ser)
c.3440G>T
c.2473G>T (p.Ala825Ser)
c.286G>T (p.Ala96Ser)
n.160G>T
c.4729G>T
c.7882G>T (p.Ala2628Ser)
c.8011G>T (p.Ala2671Ser)
c.8008G>T (p.Ala2670Ser)
c.7939G>T (p.Ala2647Ser)
c.7903G>T (p.Ala2635Ser)
c.7855G>T (p.Ala2619Ser)
c.7813G>T (p.Ala2605Ser)
8g.133133547C>ACA372253270TGc.8075C>A (p.Ala2692Asp)
c.3441C>A
c.2474C>A (p.Ala825Asp)
c.287C>A (p.Ala96Asp)
n.161C>A
c.4730C>A
c.7883C>A (p.Ala2628Asp)
c.8012C>A (p.Ala2671Asp)
c.8009C>A (p.Ala2670Asp)
c.7940C>A (p.Ala2647Asp)
c.7904C>A (p.Ala2635Asp)
c.7856C>A (p.Ala2619Asp)
c.7814C>A (p.Ala2605Asp)
 COSMIC
8g.133133547C=CA1821104923TGc.8075C= (p.Ala2692=)
c.3441C=
c.2474C= (p.Ala825=)
c.287C= (p.Ala96=)
n.161C=
c.4730C=
c.7883C= (p.Ala2628=)
c.8012C= (p.Ala2671=)
c.8009C= (p.Ala2670=)
c.7940C= (p.Ala2647=)
c.7904C= (p.Ala2635=)
c.7856C= (p.Ala2619=)
c.7814C= (p.Ala2605=)
8g.133133547C>GCA372253271TGc.8075C>G (p.Ala2692Gly)
c.3441C>G
c.2474C>G (p.Ala825Gly)
c.287C>G (p.Ala96Gly)
n.161C>G
c.4730C>G
c.7883C>G (p.Ala2628Gly)
c.8012C>G (p.Ala2671Gly)
c.8009C>G (p.Ala2670Gly)
c.7940C>G (p.Ala2647Gly)
c.7904C>G (p.Ala2635Gly)
c.7856C>G (p.Ala2619Gly)
c.7814C>G (p.Ala2605Gly)
8g.133133547C>TCA4885888TGc.8075C>T (p.Ala2692Val)
c.3441C>T
c.2474C>T (p.Ala825Val)
c.287C>T (p.Ala96Val)
n.161C>T
c.4730C>T
c.7883C>T (p.Ala2628Val)
c.8012C>T (p.Ala2671Val)
c.8009C>T (p.Ala2670Val)
c.7940C>T (p.Ala2647Val)
c.7904C>T (p.Ala2635Val)
c.7856C>T (p.Ala2619Val)
c.7814C>T (p.Ala2605Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133548T>ACA463017125TGc.8076T>A (p.Ala2692=)
c.3442T>A
c.2475T>A (p.Ala825=)
c.288T>A (p.Ala96=)
n.162T>A
c.4731T>A
c.7884T>A (p.Ala2628=)
c.8013T>A (p.Ala2671=)
c.8010T>A (p.Ala2670=)
c.7941T>A (p.Ala2647=)
c.7905T>A (p.Ala2635=)
c.7857T>A (p.Ala2619=)
c.7815T>A (p.Ala2605=)
8g.133133548T>CCA463017127TGc.8076T>C (p.Ala2692=)
c.3442T>C
c.2475T>C (p.Ala825=)
c.288T>C (p.Ala96=)
n.162T>C
c.4731T>C
c.7884T>C (p.Ala2628=)
c.8013T>C (p.Ala2671=)
c.8010T>C (p.Ala2670=)
c.7941T>C (p.Ala2647=)
c.7905T>C (p.Ala2635=)
c.7857T>C (p.Ala2619=)
c.7815T>C (p.Ala2605=)
 dbSNP
8g.133133548T>GCA463017128TGc.8076T>G (p.Ala2692=)
c.3442T>G
c.2475T>G (p.Ala825=)
c.288T>G (p.Ala96=)
n.162T>G
c.4731T>G
c.7884T>G (p.Ala2628=)
c.8013T>G (p.Ala2671=)
c.8010T>G (p.Ala2670=)
c.7941T>G (p.Ala2647=)
c.7905T>G (p.Ala2635=)
c.7857T>G (p.Ala2619=)
c.7815T>G (p.Ala2605=)
8g.133133548T=CA1821104924TGc.8076T= (p.Ala2692=)
c.3442T=
c.2475T= (p.Ala825=)
c.288T= (p.Ala96=)
n.162T=
c.4731T=
c.7884T= (p.Ala2628=)
c.8013T= (p.Ala2671=)
c.8010T= (p.Ala2670=)
c.7941T= (p.Ala2647=)
c.7905T= (p.Ala2635=)
c.7857T= (p.Ala2619=)
c.7815T= (p.Ala2605=)
8g.133133549G>ACA372253274TGc.8077G>A (p.Gly2693Ser)
c.3443G>A
c.2476G>A (p.Gly826Ser)
c.289G>A (p.Gly97Ser)
n.163G>A
c.4732G>A
c.7885G>A (p.Gly2629Ser)
c.8014G>A (p.Gly2672Ser)
c.8011G>A (p.Gly2671Ser)
c.7942G>A (p.Gly2648Ser)
c.7906G>A (p.Gly2636Ser)
c.7858G>A (p.Gly2620Ser)
c.7816G>A (p.Gly2606Ser)
8g.133133549G>CCA186356709TGc.8077G>C (p.Gly2693Arg)
c.3443G>C
c.2476G>C (p.Gly826Arg)
c.289G>C (p.Gly97Arg)
n.163G>C
c.4732G>C
c.7885G>C (p.Gly2629Arg)
c.8014G>C (p.Gly2672Arg)
c.8011G>C (p.Gly2671Arg)
c.7942G>C (p.Gly2648Arg)
c.7906G>C (p.Gly2636Arg)
c.7858G>C (p.Gly2620Arg)
c.7816G>C (p.Gly2606Arg)
 dbSNP
8g.133133549G=CA1821104925TGc.8077G= (p.Gly2693=)
c.3443G=
c.2476G= (p.Gly826=)
c.289G= (p.Gly97=)
n.163G=
c.4732G=
c.7885G= (p.Gly2629=)
c.8014G= (p.Gly2672=)
c.8011G= (p.Gly2671=)
c.7942G= (p.Gly2648=)
c.7906G= (p.Gly2636=)
c.7858G= (p.Gly2620=)
c.7816G= (p.Gly2606=)
8g.133133549G>TCA372253277TGc.8077G>T (p.Gly2693Cys)
c.3443G>T
c.2476G>T (p.Gly826Cys)
c.289G>T (p.Gly97Cys)
n.163G>T
c.4732G>T
c.7885G>T (p.Gly2629Cys)
c.8014G>T (p.Gly2672Cys)
c.8011G>T (p.Gly2671Cys)
c.7942G>T (p.Gly2648Cys)
c.7906G>T (p.Gly2636Cys)
c.7858G>T (p.Gly2620Cys)
c.7816G>T (p.Gly2606Cys)
8g.133133550G>ACA372253281TGc.8078G>A (p.Gly2693Asp)
c.3444G>A
c.2477G>A (p.Gly826Asp)
c.290G>A (p.Gly97Asp)
n.164G>A
c.4733G>A
c.7886G>A (p.Gly2629Asp)
c.8015G>A (p.Gly2672Asp)
c.8012G>A (p.Gly2671Asp)
c.7943G>A (p.Gly2648Asp)
c.7907G>A (p.Gly2636Asp)
c.7859G>A (p.Gly2620Asp)
c.7817G>A (p.Gly2606Asp)
 gnomAD v4
8g.133133550G>CCA372253282TGc.8078G>C (p.Gly2693Ala)
c.3444G>C
c.2477G>C (p.Gly826Ala)
c.290G>C (p.Gly97Ala)
n.164G>C
c.4733G>C
c.7886G>C (p.Gly2629Ala)
c.8015G>C (p.Gly2672Ala)
c.8012G>C (p.Gly2671Ala)
c.7943G>C (p.Gly2648Ala)
c.7907G>C (p.Gly2636Ala)
c.7859G>C (p.Gly2620Ala)
c.7817G>C (p.Gly2606Ala)
8g.133133550G>TCA372253279TGc.8078G>T (p.Gly2693Val)
c.3444G>T
c.2477G>T (p.Gly826Val)
c.290G>T (p.Gly97Val)
n.164G>T
c.4733G>T
c.7886G>T (p.Gly2629Val)
c.8015G>T (p.Gly2672Val)
c.8012G>T (p.Gly2671Val)
c.7943G>T (p.Gly2648Val)
c.7907G>T (p.Gly2636Val)
c.7859G>T (p.Gly2620Val)
c.7817G>T (p.Gly2606Val)
8g.133133551T>ACA463017132TGc.8079T>A (p.Gly2693=)
c.3445T>A
c.2478T>A (p.Gly826=)
c.291T>A (p.Gly97=)
n.165T>A
c.4734T>A
c.7887T>A (p.Gly2629=)
c.8016T>A (p.Gly2672=)
c.8013T>A (p.Gly2671=)
c.7944T>A (p.Gly2648=)
c.7908T>A (p.Gly2636=)
c.7860T>A (p.Gly2620=)
c.7818T>A (p.Gly2606=)
8g.133133551T>CCA463017135TGc.8079T>C (p.Gly2693=)
c.3445T>C
c.2478T>C (p.Gly826=)
c.291T>C (p.Gly97=)
n.165T>C
c.4734T>C
c.7887T>C (p.Gly2629=)
c.8016T>C (p.Gly2672=)
c.8013T>C (p.Gly2671=)
c.7944T>C (p.Gly2648=)
c.7908T>C (p.Gly2636=)
c.7860T>C (p.Gly2620=)
c.7818T>C (p.Gly2606=)
8g.133133551T>GCA463017134TGc.8079T>G (p.Gly2693=)
c.3445T>G
c.2478T>G (p.Gly826=)
c.291T>G (p.Gly97=)
n.165T>G
c.4734T>G
c.7887T>G (p.Gly2629=)
c.8016T>G (p.Gly2672=)
c.8013T>G (p.Gly2671=)
c.7944T>G (p.Gly2648=)
c.7908T>G (p.Gly2636=)
c.7860T>G (p.Gly2620=)
c.7818T>G (p.Gly2606=)
8g.133133552G>ACA4885889TGc.8080G>A (p.Gly2694Arg)
c.3446G>A
c.2479G>A (p.Gly827Arg)
c.292G>A (p.Gly98Arg)
n.166G>A
c.4735G>A
c.7888G>A (p.Gly2630Arg)
c.8017G>A (p.Gly2673Arg)
c.8014G>A (p.Gly2672Arg)
c.7945G>A (p.Gly2649Arg)
c.7909G>A (p.Gly2637Arg)
c.7861G>A (p.Gly2621Arg)
c.7819G>A (p.Gly2607Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133552G>CCA372253285TGc.8080G>C (p.Gly2694Arg)
c.3446G>C
c.2479G>C (p.Gly827Arg)
c.292G>C (p.Gly98Arg)
n.166G>C
c.4735G>C
c.7888G>C (p.Gly2630Arg)
c.8017G>C (p.Gly2673Arg)
c.8014G>C (p.Gly2672Arg)
c.7945G>C (p.Gly2649Arg)
c.7909G>C (p.Gly2637Arg)
c.7861G>C (p.Gly2621Arg)
c.7819G>C (p.Gly2607Arg)
 gnomAD v4
8g.133133552G=CA1821104926TGc.8080G= (p.Gly2694=)
c.3446G=
c.2479G= (p.Gly827=)
c.292G= (p.Gly98=)
n.166G=
c.4735G=
c.7888G= (p.Gly2630=)
c.8017G= (p.Gly2673=)
c.8014G= (p.Gly2672=)
c.7945G= (p.Gly2649=)
c.7909G= (p.Gly2637=)
c.7861G= (p.Gly2621=)
c.7819G= (p.Gly2607=)
8g.133133552G>TCA372253287TGc.8080G>T (p.Gly2694Ter)
c.3446G>T
c.2479G>T (p.Gly827Ter)
c.292G>T (p.Gly98Ter)
n.166G>T
c.4735G>T
c.7888G>T (p.Gly2630Ter)
c.8017G>T (p.Gly2673Ter)
c.8014G>T (p.Gly2672Ter)
c.7945G>T (p.Gly2649Ter)
c.7909G>T (p.Gly2637Ter)
c.7861G>T (p.Gly2621Ter)
c.7819G>T (p.Gly2607Ter)
8g.133133553G>ACA372253289TGc.8081G>A (p.Gly2694Glu)
c.3447G>A
c.2480G>A (p.Gly827Glu)
c.293G>A (p.Gly98Glu)
n.167G>A
c.4736G>A
c.7889G>A (p.Gly2630Glu)
c.8018G>A (p.Gly2673Glu)
c.8015G>A (p.Gly2672Glu)
c.7946G>A (p.Gly2649Glu)
c.7910G>A (p.Gly2637Glu)
c.7862G>A (p.Gly2621Glu)
c.7820G>A (p.Gly2607Glu)
8g.133133553G>CCA372253291TGc.8081G>C (p.Gly2694Ala)
c.3447G>C
c.2480G>C (p.Gly827Ala)
c.293G>C (p.Gly98Ala)
n.167G>C
c.4736G>C
c.7889G>C (p.Gly2630Ala)
c.8018G>C (p.Gly2673Ala)
c.8015G>C (p.Gly2672Ala)
c.7946G>C (p.Gly2649Ala)
c.7910G>C (p.Gly2637Ala)
c.7862G>C (p.Gly2621Ala)
c.7820G>C (p.Gly2607Ala)
8g.133133553G>TCA372253293TGc.8081G>T (p.Gly2694Val)
c.3447G>T
c.2480G>T (p.Gly827Val)
c.293G>T (p.Gly98Val)
n.167G>T
c.4736G>T
c.7889G>T (p.Gly2630Val)
c.8018G>T (p.Gly2673Val)
c.8015G>T (p.Gly2672Val)
c.7946G>T (p.Gly2649Val)
c.7910G>T (p.Gly2637Val)
c.7862G>T (p.Gly2621Val)
c.7820G>T (p.Gly2607Val)
8g.133133554A>CCA463017140TGc.8082A>C (p.Gly2694=)
c.3448A>C
c.2481A>C (p.Gly827=)
c.294A>C (p.Gly98=)
n.168A>C
c.4737A>C
c.7890A>C (p.Gly2630=)
c.8019A>C (p.Gly2673=)
c.8016A>C (p.Gly2672=)
c.7947A>C (p.Gly2649=)
c.7911A>C (p.Gly2637=)
c.7863A>C (p.Gly2621=)
c.7821A>C (p.Gly2607=)
8g.133133554A>GCA463017138TGc.8082A>G (p.Gly2694=)
c.3448A>G
c.2481A>G (p.Gly827=)
c.294A>G (p.Gly98=)
n.168A>G
c.4737A>G
c.7890A>G (p.Gly2630=)
c.8019A>G (p.Gly2673=)
c.8016A>G (p.Gly2672=)
c.7947A>G (p.Gly2649=)
c.7911A>G (p.Gly2637=)
c.7863A>G (p.Gly2621=)
c.7821A>G (p.Gly2607=)
8g.133133554A>TCA463017136TGc.8082A>T (p.Gly2694=)
c.3448A>T
c.2481A>T (p.Gly827=)
c.294A>T (p.Gly98=)
n.168A>T
c.4737A>T
c.7890A>T (p.Gly2630=)
c.8019A>T (p.Gly2673=)
c.8016A>T (p.Gly2672=)
c.7947A>T (p.Gly2649=)
c.7911A>T (p.Gly2637=)
c.7863A>T (p.Gly2621=)
c.7821A>T (p.Gly2607=)
8g.133133555G>ACA186356725TGc.8083G>A (p.Glu2695Lys)
c.3449G>A
c.2482G>A (p.Glu828Lys)
c.295G>A (p.Glu99Lys)
n.169G>A
c.4738G>A
c.7891G>A (p.Glu2631Lys)
c.8020G>A (p.Glu2674Lys)
c.8017G>A (p.Glu2673Lys)
c.7948G>A (p.Glu2650Lys)
c.7912G>A (p.Glu2638Lys)
c.7864G>A (p.Glu2622Lys)
c.7822G>A (p.Glu2608Lys)
 dbSNP gnomAD v4
8g.133133555G>CCA372253295TGc.8083G>C (p.Glu2695Gln)
c.3449G>C
c.2482G>C (p.Glu828Gln)
c.295G>C (p.Glu99Gln)
n.169G>C
c.4738G>C
c.7891G>C (p.Glu2631Gln)
c.8020G>C (p.Glu2674Gln)
c.8017G>C (p.Glu2673Gln)
c.7948G>C (p.Glu2650Gln)
c.7912G>C (p.Glu2638Gln)
c.7864G>C (p.Glu2622Gln)
c.7822G>C (p.Glu2608Gln)
8g.133133555G=CA1821104927TGc.8083G= (p.Glu2695=)
c.3449G=
c.2482G= (p.Glu828=)
c.295G= (p.Glu99=)
n.169G=
c.4738G=
c.7891G= (p.Glu2631=)
c.8020G= (p.Glu2674=)
c.8017G= (p.Glu2673=)
c.7948G= (p.Glu2650=)
c.7912G= (p.Glu2638=)
c.7864G= (p.Glu2622=)
c.7822G= (p.Glu2608=)
8g.133133555G>TCA372253296TGc.8083G>T (p.Glu2695Ter)
c.3449G>T
c.2482G>T (p.Glu828Ter)
c.295G>T (p.Glu99Ter)
n.169G>T
c.4738G>T
c.7891G>T (p.Glu2631Ter)
c.8020G>T (p.Glu2674Ter)
c.8017G>T (p.Glu2673Ter)
c.7948G>T (p.Glu2650Ter)
c.7912G>T (p.Glu2638Ter)
c.7864G>T (p.Glu2622Ter)
c.7822G>T (p.Glu2608Ter)
8g.133133556A=CA1821104928TGc.8084A= (p.Glu2695=)
c.3450A=
c.2483A= (p.Glu828=)
c.296A= (p.Glu99=)
n.170A=
c.4739A=
c.7892A= (p.Glu2631=)
c.8021A= (p.Glu2674=)
c.8018A= (p.Glu2673=)
c.7949A= (p.Glu2650=)
c.7913A= (p.Glu2638=)
c.7865A= (p.Glu2622=)
c.7823A= (p.Glu2608=)
8g.133133556A>CCA372253300TGc.8084A>C (p.Glu2695Ala)
c.3450A>C
c.2483A>C (p.Glu828Ala)
c.296A>C (p.Glu99Ala)
n.170A>C
c.4739A>C
c.7892A>C (p.Glu2631Ala)
c.8021A>C (p.Glu2674Ala)
c.8018A>C (p.Glu2673Ala)
c.7949A>C (p.Glu2650Ala)
c.7913A>C (p.Glu2638Ala)
c.7865A>C (p.Glu2622Ala)
c.7823A>C (p.Glu2608Ala)
8g.133133556A>GCA372253301TGc.8084A>G (p.Glu2695Gly)
c.3450A>G
c.2483A>G (p.Glu828Gly)
c.296A>G (p.Glu99Gly)
n.170A>G
c.4739A>G
c.7892A>G (p.Glu2631Gly)
c.8021A>G (p.Glu2674Gly)
c.8018A>G (p.Glu2673Gly)
c.7949A>G (p.Glu2650Gly)
c.7913A>G (p.Glu2638Gly)
c.7865A>G (p.Glu2622Gly)
c.7823A>G (p.Glu2608Gly)
8g.133133556A>TCA4885890TGc.8084A>T (p.Glu2695Val)
c.3450A>T
c.2483A>T (p.Glu828Val)
c.296A>T (p.Glu99Val)
n.170A>T
c.4739A>T
c.7892A>T (p.Glu2631Val)
c.8021A>T (p.Glu2674Val)
c.8018A>T (p.Glu2673Val)
c.7949A>T (p.Glu2650Val)
c.7913A>T (p.Glu2638Val)
c.7865A>T (p.Glu2622Val)
c.7823A>T (p.Glu2608Val)
 dbSNP ExAC gnomAD v2
8g.133133557G>ACA463017142TGc.8085G>A (p.Glu2695=)
c.3451G>A
c.2484G>A (p.Glu828=)
c.297G>A (p.Glu99=)
n.171G>A
c.4740G>A
c.7893G>A (p.Glu2631=)
c.8022G>A (p.Glu2674=)
c.8019G>A (p.Glu2673=)
c.7950G>A (p.Glu2650=)
c.7914G>A (p.Glu2638=)
c.7866G>A (p.Glu2622=)
c.7824G>A (p.Glu2608=)
8g.133133557G>CCA4885891TGc.8085G>C (p.Glu2695Asp)
c.3451G>C
c.2484G>C (p.Glu828Asp)
c.297G>C (p.Glu99Asp)
n.171G>C
c.4740G>C
c.7893G>C (p.Glu2631Asp)
c.8022G>C (p.Glu2674Asp)
c.8019G>C (p.Glu2673Asp)
c.7950G>C (p.Glu2650Asp)
c.7914G>C (p.Glu2638Asp)
c.7866G>C (p.Glu2622Asp)
c.7824G>C (p.Glu2608Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.133133557G=CA1821104929TGc.8085G= (p.Glu2695=)
c.3451G=
c.2484G= (p.Glu828=)
c.297G= (p.Glu99=)
n.171G=
c.4740G=
c.7893G= (p.Glu2631=)
c.8022G= (p.Glu2674=)
c.8019G= (p.Glu2673=)
c.7950G= (p.Glu2650=)
c.7914G= (p.Glu2638=)
c.7866G= (p.Glu2622=)
c.7824G= (p.Glu2608=)
8g.133133557G>TCA372253305TGc.8085G>T (p.Glu2695Asp)
c.3451G>T
c.2484G>T (p.Glu828Asp)
c.297G>T (p.Glu99Asp)
n.171G>T
c.4740G>T
c.7893G>T (p.Glu2631Asp)
c.8022G>T (p.Glu2674Asp)
c.8019G>T (p.Glu2673Asp)
c.7950G>T (p.Glu2650Asp)
c.7914G>T (p.Glu2638Asp)
c.7866G>T (p.Glu2622Asp)
c.7824G>T (p.Glu2608Asp)
8g.133133558A=CA1821104930TGc.8086A= (p.Asn2696=)
c.3452A=
c.2485A= (p.Asn829=)
c.298A= (p.Asn100=)
n.172A=
c.4741A=
c.7894A= (p.Asn2632=)
c.8023A= (p.Asn2675=)
c.8020A= (p.Asn2674=)
c.7951A= (p.Asn2651=)
c.7915A= (p.Asn2639=)
c.7867A= (p.Asn2623=)
c.7825A= (p.Asn2609=)
8g.133133558A>CCA372253308TGc.8086A>C (p.Asn2696His)
c.3452A>C
c.2485A>C (p.Asn829His)
c.298A>C (p.Asn100His)
n.172A>C
c.4741A>C
c.7894A>C (p.Asn2632His)
c.8023A>C (p.Asn2675His)
c.8020A>C (p.Asn2674His)
c.7951A>C (p.Asn2651His)
c.7915A>C (p.Asn2639His)
c.7867A>C (p.Asn2623His)
c.7825A>C (p.Asn2609His)
8g.133133558A>GCA372253307TGc.8086A>G (p.Asn2696Asp)
c.3452A>G
c.2485A>G (p.Asn829Asp)
c.298A>G (p.Asn100Asp)
n.172A>G
c.4741A>G
c.7894A>G (p.Asn2632Asp)
c.8023A>G (p.Asn2675Asp)
c.8020A>G (p.Asn2674Asp)
c.7951A>G (p.Asn2651Asp)
c.7915A>G (p.Asn2639Asp)
c.7867A>G (p.Asn2623Asp)
c.7825A>G (p.Asn2609Asp)
 dbSNP gnomAD v4
8g.133133558A>TCA372253306TGc.8086A>T (p.Asn2696Tyr)
c.3452A>T
c.2485A>T (p.Asn829Tyr)
c.298A>T (p.Asn100Tyr)
n.172A>T
c.4741A>T
c.7894A>T (p.Asn2632Tyr)
c.8023A>T (p.Asn2675Tyr)
c.8020A>T (p.Asn2674Tyr)
c.7951A>T (p.Asn2651Tyr)
c.7915A>T (p.Asn2639Tyr)
c.7867A>T (p.Asn2623Tyr)
c.7825A>T (p.Asn2609Tyr)
8g.133133559A=CA1821104931TGc.8087A= (p.Asn2696=)
c.3453A=
c.2486A= (p.Asn829=)
c.299A= (p.Asn100=)
n.173A=
c.4742A=
c.7895A= (p.Asn2632=)
c.8024A= (p.Asn2675=)
c.8021A= (p.Asn2674=)
c.7952A= (p.Asn2651=)
c.7916A= (p.Asn2639=)
c.7868A= (p.Asn2623=)
c.7826A= (p.Asn2609=)
8g.133133559A>CCA372253311TGc.8087A>C (p.Asn2696Thr)
c.3453A>C
c.2486A>C (p.Asn829Thr)
c.299A>C (p.Asn100Thr)
n.173A>C
c.4742A>C
c.7895A>C (p.Asn2632Thr)
c.8024A>C (p.Asn2675Thr)
c.8021A>C (p.Asn2674Thr)
c.7952A>C (p.Asn2651Thr)
c.7916A>C (p.Asn2639Thr)
c.7868A>C (p.Asn2623Thr)
c.7826A>C (p.Asn2609Thr)
 gnomAD v4
8g.133133559A>GCA372253313TGc.8087A>G (p.Asn2696Ser)
c.3453A>G
c.2486A>G (p.Asn829Ser)
c.299A>G (p.Asn100Ser)
n.173A>G
c.4742A>G
c.7895A>G (p.Asn2632Ser)
c.8024A>G (p.Asn2675Ser)
c.8021A>G (p.Asn2674Ser)
c.7952A>G (p.Asn2651Ser)
c.7916A>G (p.Asn2639Ser)
c.7868A>G (p.Asn2623Ser)
c.7826A>G (p.Asn2609Ser)
 dbSNP
8g.133133559A>TCA4885892TGc.8087A>T (p.Asn2696Ile)
c.3453A>T
c.2486A>T (p.Asn829Ile)
c.299A>T (p.Asn100Ile)
n.173A>T
c.4742A>T
c.7895A>T (p.Asn2632Ile)
c.8024A>T (p.Asn2675Ile)
c.8021A>T (p.Asn2674Ile)
c.7952A>T (p.Asn2651Ile)
c.7916A>T (p.Asn2639Ile)
c.7868A>T (p.Asn2623Ile)
c.7826A>T (p.Asn2609Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133560C>ACA372253316TGc.8088C>A (p.Asn2696Lys)
c.3454C>A
c.2487C>A (p.Asn829Lys)
c.300C>A (p.Asn100Lys)
n.174C>A
c.4743C>A
c.7896C>A (p.Asn2632Lys)
c.8025C>A (p.Asn2675Lys)
c.8022C>A (p.Asn2674Lys)
c.7953C>A (p.Asn2651Lys)
c.7917C>A (p.Asn2639Lys)
c.7869C>A (p.Asn2623Lys)
c.7827C>A (p.Asn2609Lys)
8g.133133560C>GCA372253318TGc.8088C>G (p.Asn2696Lys)
c.3454C>G
c.2487C>G (p.Asn829Lys)
c.300C>G (p.Asn100Lys)
n.174C>G
c.4743C>G
c.7896C>G (p.Asn2632Lys)
c.8025C>G (p.Asn2675Lys)
c.8022C>G (p.Asn2674Lys)
c.7953C>G (p.Asn2651Lys)
c.7917C>G (p.Asn2639Lys)
c.7869C>G (p.Asn2623Lys)
c.7827C>G (p.Asn2609Lys)
8g.133133560C>TCA463017146TGc.8088C>T (p.Asn2696=)
c.3454C>T
c.2487C>T (p.Asn829=)
c.300C>T (p.Asn100=)
n.174C>T
c.4743C>T
c.7896C>T (p.Asn2632=)
c.8025C>T (p.Asn2675=)
c.8022C>T (p.Asn2674=)
c.7953C>T (p.Asn2651=)
c.7917C>T (p.Asn2639=)
c.7869C>T (p.Asn2623=)
c.7827C>T (p.Asn2609=)
 ClinVar gnomAD v4
8g.133133561T>ACA372253321TGc.8089T>A (p.Tyr2697Asn)
c.3455T>A
c.2488T>A (p.Tyr830Asn)
c.301T>A (p.Tyr101Asn)
n.175T>A
c.4744T>A
c.7897T>A (p.Tyr2633Asn)
c.8026T>A (p.Tyr2676Asn)
c.8023T>A (p.Tyr2675Asn)
c.7954T>A (p.Tyr2652Asn)
c.7918T>A (p.Tyr2640Asn)
c.7870T>A (p.Tyr2624Asn)
c.7828T>A (p.Tyr2610Asn)
 dbSNP
8g.133133561T>CCA372253322TGc.8089T>C (p.Tyr2697His)
c.3455T>C
c.2488T>C (p.Tyr830His)
c.301T>C (p.Tyr101His)
n.175T>C
c.4744T>C
c.7897T>C (p.Tyr2633His)
c.8026T>C (p.Tyr2676His)
c.8023T>C (p.Tyr2675His)
c.7954T>C (p.Tyr2652His)
c.7918T>C (p.Tyr2640His)
c.7870T>C (p.Tyr2624His)
c.7828T>C (p.Tyr2610His)
 gnomAD v4
8g.133133561T>GCA372253324TGc.8089T>G (p.Tyr2697Asp)
c.3455T>G
c.2488T>G (p.Tyr830Asp)
c.301T>G (p.Tyr101Asp)
n.175T>G
c.4744T>G
c.7897T>G (p.Tyr2633Asp)
c.8026T>G (p.Tyr2676Asp)
c.8023T>G (p.Tyr2675Asp)
c.7954T>G (p.Tyr2652Asp)
c.7918T>G (p.Tyr2640Asp)
c.7870T>G (p.Tyr2624Asp)
c.7828T>G (p.Tyr2610Asp)
8g.133133561T=CA1821104932TGc.8089T= (p.Tyr2697=)
c.3455T=
c.2488T= (p.Tyr830=)
c.301T= (p.Tyr101=)
n.175T=
c.4744T=
c.7897T= (p.Tyr2633=)
c.8026T= (p.Tyr2676=)
c.8023T= (p.Tyr2675=)
c.7954T= (p.Tyr2652=)
c.7918T= (p.Tyr2640=)
c.7870T= (p.Tyr2624=)
c.7828T= (p.Tyr2610=)
8g.133133562A=CA1821104933TGc.8090A= (p.Tyr2697=)
c.3456A=
c.2489A= (p.Tyr830=)
c.302A= (p.Tyr101=)
n.176A=
c.4745A=
c.7898A= (p.Tyr2633=)
c.8027A= (p.Tyr2676=)
c.8024A= (p.Tyr2675=)
c.7955A= (p.Tyr2652=)
c.7919A= (p.Tyr2640=)
c.7871A= (p.Tyr2624=)
c.7829A= (p.Tyr2610=)
8g.133133562A>CCA372253326TGc.8090A>C (p.Tyr2697Ser)
c.3456A>C
c.2489A>C (p.Tyr830Ser)
c.302A>C (p.Tyr101Ser)
n.176A>C
c.4745A>C
c.7898A>C (p.Tyr2633Ser)
c.8027A>C (p.Tyr2676Ser)
c.8024A>C (p.Tyr2675Ser)
c.7955A>C (p.Tyr2652Ser)
c.7919A>C (p.Tyr2640Ser)
c.7871A>C (p.Tyr2624Ser)
c.7829A>C (p.Tyr2610Ser)
8g.133133562A>GCA372253328TGc.8090A>G (p.Tyr2697Cys)
c.3456A>G
c.2489A>G (p.Tyr830Cys)
c.302A>G (p.Tyr101Cys)
n.176A>G
c.4745A>G
c.7898A>G (p.Tyr2633Cys)
c.8027A>G (p.Tyr2676Cys)
c.8024A>G (p.Tyr2675Cys)
c.7955A>G (p.Tyr2652Cys)
c.7919A>G (p.Tyr2640Cys)
c.7871A>G (p.Tyr2624Cys)
c.7829A>G (p.Tyr2610Cys)
 dbSNP
8g.133133562A>TCA372253329TGc.8090A>T (p.Tyr2697Phe)
c.3456A>T
c.2489A>T (p.Tyr830Phe)
c.302A>T (p.Tyr101Phe)
n.176A>T
c.4745A>T
c.7898A>T (p.Tyr2633Phe)
c.8027A>T (p.Tyr2676Phe)
c.8024A>T (p.Tyr2675Phe)
c.7955A>T (p.Tyr2652Phe)
c.7919A>T (p.Tyr2640Phe)
c.7871A>T (p.Tyr2624Phe)
c.7829A>T (p.Tyr2610Phe)
8g.133133563C>ACA372253331TGc.8091C>A (p.Tyr2697Ter)
c.3457C>A
c.2490C>A (p.Tyr830Ter)
c.303C>A (p.Tyr101Ter)
n.177C>A
c.4746C>A
c.7899C>A (p.Tyr2633Ter)
c.8028C>A (p.Tyr2676Ter)
c.8025C>A (p.Tyr2675Ter)
c.7956C>A (p.Tyr2652Ter)
c.7920C>A (p.Tyr2640Ter)
c.7872C>A (p.Tyr2624Ter)
c.7830C>A (p.Tyr2610Ter)
8g.133133563C=CA1821104934TGc.8091C= (p.Tyr2697=)
c.3457C=
c.2490C= (p.Tyr830=)
c.303C= (p.Tyr101=)
n.177C=
c.4746C=
c.7899C= (p.Tyr2633=)
c.8028C= (p.Tyr2676=)
c.8025C= (p.Tyr2675=)
c.7956C= (p.Tyr2652=)
c.7920C= (p.Tyr2640=)
c.7872C= (p.Tyr2624=)
c.7830C= (p.Tyr2610=)
8g.133133563C>GCA186356742TGc.8091C>G (p.Tyr2697Ter)
c.3457C>G
c.2490C>G (p.Tyr830Ter)
c.303C>G (p.Tyr101Ter)
n.177C>G
c.4746C>G
c.7899C>G (p.Tyr2633Ter)
c.8028C>G (p.Tyr2676Ter)
c.8025C>G (p.Tyr2675Ter)
c.7956C>G (p.Tyr2652Ter)
c.7920C>G (p.Tyr2640Ter)
c.7872C>G (p.Tyr2624Ter)
c.7830C>G (p.Tyr2610Ter)
 dbSNP gnomAD v3 gnomAD v4
8g.133133563C>TCA463017152TGc.8091C>T (p.Tyr2697=)
c.3457C>T
c.2490C>T (p.Tyr830=)
c.303C>T (p.Tyr101=)
n.177C>T
c.4746C>T
c.7899C>T (p.Tyr2633=)
c.8028C>T (p.Tyr2676=)
c.8025C>T (p.Tyr2675=)
c.7956C>T (p.Tyr2652=)
c.7920C>T (p.Tyr2640=)
c.7872C>T (p.Tyr2624=)
c.7830C>T (p.Tyr2610=)
8g.133133564A>CCA372253334TGc.8092A>C (p.Lys2698Gln)
c.3458A>C
c.2491A>C (p.Lys831Gln)
c.304A>C (p.Lys102Gln)
n.178A>C
c.4747A>C
c.7900A>C (p.Lys2634Gln)
c.8029A>C (p.Lys2677Gln)
c.8026A>C (p.Lys2676Gln)
c.7957A>C (p.Lys2653Gln)
c.7921A>C (p.Lys2641Gln)
c.7873A>C (p.Lys2625Gln)
c.7831A>C (p.Lys2611Gln)
8g.133133564A>GCA372253343TGc.8092A>G (p.Lys2698Glu)
c.3458A>G
c.2491A>G (p.Lys831Glu)
c.304A>G (p.Lys102Glu)
n.178A>G
c.4747A>G
c.7900A>G (p.Lys2634Glu)
c.8029A>G (p.Lys2677Glu)
c.8026A>G (p.Lys2676Glu)
c.7957A>G (p.Lys2653Glu)
c.7921A>G (p.Lys2641Glu)
c.7873A>G (p.Lys2625Glu)
c.7831A>G (p.Lys2611Glu)
8g.133133564A>TCA372253345TGc.8092A>T (p.Lys2698Ter)
c.3458A>T
c.2491A>T (p.Lys831Ter)
c.304A>T (p.Lys102Ter)
n.178A>T
c.4747A>T
c.7900A>T (p.Lys2634Ter)
c.8029A>T (p.Lys2677Ter)
c.8026A>T (p.Lys2676Ter)
c.7957A>T (p.Lys2653Ter)
c.7921A>T (p.Lys2641Ter)
c.7873A>T (p.Lys2625Ter)
c.7831A>T (p.Lys2611Ter)
8g.133133565A=CA1821104935TGc.8093A= (p.Lys2698=)
c.3459A=
c.2492A= (p.Lys831=)
c.305A= (p.Lys102=)
n.179A=
c.4748A=
c.7901A= (p.Lys2634=)
c.8030A= (p.Lys2677=)
c.8027A= (p.Lys2676=)
c.7958A= (p.Lys2653=)
c.7922A= (p.Lys2641=)
c.7874A= (p.Lys2625=)
c.7832A= (p.Lys2611=)
8g.133133565A>CCA372253350TGc.8093A>C (p.Lys2698Thr)
c.3459A>C
c.2492A>C (p.Lys831Thr)
c.305A>C (p.Lys102Thr)
n.179A>C
c.4748A>C
c.7901A>C (p.Lys2634Thr)
c.8030A>C (p.Lys2677Thr)
c.8027A>C (p.Lys2676Thr)
c.7958A>C (p.Lys2653Thr)
c.7922A>C (p.Lys2641Thr)
c.7874A>C (p.Lys2625Thr)
c.7832A>C (p.Lys2611Thr)
8g.133133565A>GCA4885893TGc.8093A>G (p.Lys2698Arg)
c.3459A>G
c.2492A>G (p.Lys831Arg)
c.305A>G (p.Lys102Arg)
n.179A>G
c.4748A>G
c.7901A>G (p.Lys2634Arg)
c.8030A>G (p.Lys2677Arg)
c.8027A>G (p.Lys2676Arg)
c.7958A>G (p.Lys2653Arg)
c.7922A>G (p.Lys2641Arg)
c.7874A>G (p.Lys2625Arg)
c.7832A>G (p.Lys2611Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133565A>TCA372253348TGc.8093A>T (p.Lys2698Met)
c.3459A>T
c.2492A>T (p.Lys831Met)
c.305A>T (p.Lys102Met)
n.179A>T
c.4748A>T
c.7901A>T (p.Lys2634Met)
c.8030A>T (p.Lys2677Met)
c.8027A>T (p.Lys2676Met)
c.7958A>T (p.Lys2653Met)
c.7922A>T (p.Lys2641Met)
c.7874A>T (p.Lys2625Met)
c.7832A>T (p.Lys2611Met)
8g.133133566G>ACA463017156TGc.8094G>A (p.Lys2698=)
c.3460G>A
c.2493G>A (p.Lys831=)
c.306G>A (p.Lys102=)
n.180G>A
c.4749G>A
c.7902G>A (p.Lys2634=)
c.8031G>A (p.Lys2677=)
c.8028G>A (p.Lys2676=)
c.7959G>A (p.Lys2653=)
c.7923G>A (p.Lys2641=)
c.7875G>A (p.Lys2625=)
c.7833G>A (p.Lys2611=)
 gnomAD v4
8g.133133566G>CCA372253353TGc.8094G>C (p.Lys2698Asn)
c.3460G>C
c.2493G>C (p.Lys831Asn)
c.306G>C (p.Lys102Asn)
n.180G>C
c.4749G>C
c.7902G>C (p.Lys2634Asn)
c.8031G>C (p.Lys2677Asn)
c.8028G>C (p.Lys2676Asn)
c.7959G>C (p.Lys2653Asn)
c.7923G>C (p.Lys2641Asn)
c.7875G>C (p.Lys2625Asn)
c.7833G>C (p.Lys2611Asn)
 COSMIC
8g.133133566G=CA1821104936TGc.8094G= (p.Lys2698=)
c.3460G=
c.2493G= (p.Lys831=)
c.306G= (p.Lys102=)
n.180G=
c.4749G=
c.7902G= (p.Lys2634=)
c.8031G= (p.Lys2677=)
c.8028G= (p.Lys2676=)
c.7959G= (p.Lys2653=)
c.7923G= (p.Lys2641=)
c.7875G= (p.Lys2625=)
c.7833G= (p.Lys2611=)
8g.133133566G>TCA372253354TGc.8094G>T (p.Lys2698Asn)
c.3460G>T
c.2493G>T (p.Lys831Asn)
c.306G>T (p.Lys102Asn)
n.180G>T
c.4749G>T
c.7902G>T (p.Lys2634Asn)
c.8031G>T (p.Lys2677Asn)
c.8028G>T (p.Lys2676Asn)
c.7959G>T (p.Lys2653Asn)
c.7923G>T (p.Lys2641Asn)
c.7875G>T (p.Lys2625Asn)
c.7833G>T (p.Lys2611Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.133133567G>ACA372253356TGc.8095G>A (p.Glu2699Lys)
c.3461G>A
c.2494G>A (p.Glu832Lys)
c.307G>A (p.Glu103Lys)
n.181G>A
c.4750G>A
c.7903G>A (p.Glu2635Lys)
c.8032G>A (p.Glu2678Lys)
c.8029G>A (p.Glu2677Lys)
c.7960G>A (p.Glu2654Lys)
c.7924G>A (p.Glu2642Lys)
c.7876G>A (p.Glu2626Lys)
c.7834G>A (p.Glu2612Lys)
 ClinVar COSMIC
8g.133133567G>CCA372253358TGc.8095G>C (p.Glu2699Gln)
c.3461G>C
c.2494G>C (p.Glu832Gln)
c.307G>C (p.Glu103Gln)
n.181G>C
c.4750G>C
c.7903G>C (p.Glu2635Gln)
c.8032G>C (p.Glu2678Gln)
c.8029G>C (p.Glu2677Gln)
c.7960G>C (p.Glu2654Gln)
c.7924G>C (p.Glu2642Gln)
c.7876G>C (p.Glu2626Gln)
c.7834G>C (p.Glu2612Gln)
8g.133133567G>TCA372253359TGc.8095G>T (p.Glu2699Ter)
c.3461G>T
c.2494G>T (p.Glu832Ter)
c.307G>T (p.Glu103Ter)
n.181G>T
c.4750G>T
c.7903G>T (p.Glu2635Ter)
c.8032G>T (p.Glu2678Ter)
c.8029G>T (p.Glu2677Ter)
c.7960G>T (p.Glu2654Ter)
c.7924G>T (p.Glu2642Ter)
c.7876G>T (p.Glu2626Ter)
c.7834G>T (p.Glu2612Ter)
 ClinVar
8g.133133568A=CA1821104937TGc.8096A= (p.Glu2699=)
c.3462A=
c.2495A= (p.Glu832=)
c.308A= (p.Glu103=)
n.182A=
c.4751A=
c.7904A= (p.Glu2635=)
c.8033A= (p.Glu2678=)
c.8030A= (p.Glu2677=)
c.7961A= (p.Glu2654=)
c.7925A= (p.Glu2642=)
c.7877A= (p.Glu2626=)
c.7835A= (p.Glu2612=)
8g.133133568A>CCA372253362TGc.8096A>C (p.Glu2699Ala)
c.3462A>C
c.2495A>C (p.Glu832Ala)
c.308A>C (p.Glu103Ala)
n.182A>C
c.4751A>C
c.7904A>C (p.Glu2635Ala)
c.8033A>C (p.Glu2678Ala)
c.8030A>C (p.Glu2677Ala)
c.7961A>C (p.Glu2654Ala)
c.7925A>C (p.Glu2642Ala)
c.7877A>C (p.Glu2626Ala)
c.7835A>C (p.Glu2612Ala)
8g.133133568A>GCA372253364TGc.8096A>G (p.Glu2699Gly)
c.3462A>G
c.2495A>G (p.Glu832Gly)
c.308A>G (p.Glu103Gly)
n.182A>G
c.4751A>G
c.7904A>G (p.Glu2635Gly)
c.8033A>G (p.Glu2678Gly)
c.8030A>G (p.Glu2677Gly)
c.7961A>G (p.Glu2654Gly)
c.7925A>G (p.Glu2642Gly)
c.7877A>G (p.Glu2626Gly)
c.7835A>G (p.Glu2612Gly)
 dbSNP
8g.133133568A>TCA372253365TGc.8096A>T (p.Glu2699Val)
c.3462A>T
c.2495A>T (p.Glu832Val)
c.308A>T (p.Glu103Val)
n.182A>T
c.4751A>T
c.7904A>T (p.Glu2635Val)
c.8033A>T (p.Glu2678Val)
c.8030A>T (p.Glu2677Val)
c.7961A>T (p.Glu2654Val)
c.7925A>T (p.Glu2642Val)
c.7877A>T (p.Glu2626Val)
c.7835A>T (p.Glu2612Val)
8g.133133569G>ACA463017161TGc.8097G>A (p.Glu2699=)
c.3463G>A
c.2496G>A (p.Glu832=)
c.309G>A (p.Glu103=)
n.183G>A
c.4752G>A
c.7905G>A (p.Glu2635=)
c.8034G>A (p.Glu2678=)
c.8031G>A (p.Glu2677=)
c.7962G>A (p.Glu2654=)
c.7926G>A (p.Glu2642=)
c.7878G>A (p.Glu2626=)
c.7836G>A (p.Glu2612=)
 gnomAD v4
8g.133133569G>CCA372253367TGc.8097G>C (p.Glu2699Asp)
c.3463G>C
c.2496G>C (p.Glu832Asp)
c.309G>C (p.Glu103Asp)
n.183G>C
c.4752G>C
c.7905G>C (p.Glu2635Asp)
c.8034G>C (p.Glu2678Asp)
c.8031G>C (p.Glu2677Asp)
c.7962G>C (p.Glu2654Asp)
c.7926G>C (p.Glu2642Asp)
c.7878G>C (p.Glu2626Asp)
c.7836G>C (p.Glu2612Asp)
8g.133133569G>TCA372253369TGc.8097G>T (p.Glu2699Asp)
c.3463G>T
c.2496G>T (p.Glu832Asp)
c.309G>T (p.Glu103Asp)
n.183G>T
c.4752G>T
c.7905G>T (p.Glu2635Asp)
c.8034G>T (p.Glu2678Asp)
c.8031G>T (p.Glu2677Asp)
c.7962G>T (p.Glu2654Asp)
c.7926G>T (p.Glu2642Asp)
c.7878G>T (p.Glu2626Asp)
c.7836G>T (p.Glu2612Asp)
8g.133133570T>ACA372253370TGc.8098T>A (p.Phe2700Ile)
c.3464T>A
c.2497T>A (p.Phe833Ile)
c.310T>A (p.Phe104Ile)
n.184T>A
c.4753T>A
c.7906T>A (p.Phe2636Ile)
c.8035T>A (p.Phe2679Ile)
c.8032T>A (p.Phe2678Ile)
c.7963T>A (p.Phe2655Ile)
c.7927T>A (p.Phe2643Ile)
c.7879T>A (p.Phe2627Ile)
c.7837T>A (p.Phe2613Ile)
8g.133133570T>CCA372253371TGc.8098T>C (p.Phe2700Leu)
c.3464T>C
c.2497T>C (p.Phe833Leu)
c.310T>C (p.Phe104Leu)
n.184T>C
c.4753T>C
c.7906T>C (p.Phe2636Leu)
c.8035T>C (p.Phe2679Leu)
c.8032T>C (p.Phe2678Leu)
c.7963T>C (p.Phe2655Leu)
c.7927T>C (p.Phe2643Leu)
c.7879T>C (p.Phe2627Leu)
c.7837T>C (p.Phe2613Leu)
8g.133133570T>GCA372253373TGc.8098T>G (p.Phe2700Val)
c.3464T>G
c.2497T>G (p.Phe833Val)
c.310T>G (p.Phe104Val)
n.184T>G
c.4753T>G
c.7906T>G (p.Phe2636Val)
c.8035T>G (p.Phe2679Val)
c.8032T>G (p.Phe2678Val)
c.7963T>G (p.Phe2655Val)
c.7927T>G (p.Phe2643Val)
c.7879T>G (p.Phe2627Val)
c.7837T>G (p.Phe2613Val)
8g.133133571T>ACA372253377TGc.8099T>A (p.Phe2700Tyr)
c.3465T>A
c.2498T>A (p.Phe833Tyr)
c.311T>A (p.Phe104Tyr)
n.185T>A
c.4754T>A
c.7907T>A (p.Phe2636Tyr)
c.8036T>A (p.Phe2679Tyr)
c.8033T>A (p.Phe2678Tyr)
c.7964T>A (p.Phe2655Tyr)
c.7928T>A (p.Phe2643Tyr)
c.7880T>A (p.Phe2627Tyr)
c.7838T>A (p.Phe2613Tyr)
8g.133133571T>CCA372253379TGc.8099T>C (p.Phe2700Ser)
c.3465T>C
c.2498T>C (p.Phe833Ser)
c.311T>C (p.Phe104Ser)
n.185T>C
c.4754T>C
c.7907T>C (p.Phe2636Ser)
c.8036T>C (p.Phe2679Ser)
c.8033T>C (p.Phe2678Ser)
c.7964T>C (p.Phe2655Ser)
c.7928T>C (p.Phe2643Ser)
c.7880T>C (p.Phe2627Ser)
c.7838T>C (p.Phe2613Ser)
8g.133133571T>GCA372253375TGc.8099T>G (p.Phe2700Cys)
c.3465T>G
c.2498T>G (p.Phe833Cys)
c.311T>G (p.Phe104Cys)
n.185T>G
c.4754T>G
c.7907T>G (p.Phe2636Cys)
c.8036T>G (p.Phe2679Cys)
c.8033T>G (p.Phe2678Cys)
c.7964T>G (p.Phe2655Cys)
c.7928T>G (p.Phe2643Cys)
c.7880T>G (p.Phe2627Cys)
c.7838T>G (p.Phe2613Cys)
8g.133133572C>ACA372253381TGc.8100C>A (p.Phe2700Leu)
c.3466C>A
c.2499C>A (p.Phe833Leu)
c.312C>A (p.Phe104Leu)
n.186C>A
c.4755C>A
c.7908C>A (p.Phe2636Leu)
c.8037C>A (p.Phe2679Leu)
c.8034C>A (p.Phe2678Leu)
c.7965C>A (p.Phe2655Leu)
c.7929C>A (p.Phe2643Leu)
c.7881C>A (p.Phe2627Leu)
c.7839C>A (p.Phe2613Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.133133572C=CA1821104938TGc.8100C= (p.Phe2700=)
c.3466C=
c.2499C= (p.Phe833=)
c.312C= (p.Phe104=)
n.186C=
c.4755C=
c.7908C= (p.Phe2636=)
c.8037C= (p.Phe2679=)
c.8034C= (p.Phe2678=)
c.7965C= (p.Phe2655=)
c.7929C= (p.Phe2643=)
c.7881C= (p.Phe2627=)
c.7839C= (p.Phe2613=)
8g.133133572C>GCA372253383TGc.8100C>G (p.Phe2700Leu)
c.3466C>G
c.2499C>G (p.Phe833Leu)
c.312C>G (p.Phe104Leu)
n.186C>G
c.4755C>G
c.7908C>G (p.Phe2636Leu)
c.8037C>G (p.Phe2679Leu)
c.8034C>G (p.Phe2678Leu)
c.7965C>G (p.Phe2655Leu)
c.7929C>G (p.Phe2643Leu)
c.7881C>G (p.Phe2627Leu)
c.7839C>G (p.Phe2613Leu)
8g.133133572C>TCA463017166TGc.8100C>T (p.Phe2700=)
c.3466C>T
c.2499C>T (p.Phe833=)
c.312C>T (p.Phe104=)
n.186C>T
c.4755C>T
c.7908C>T (p.Phe2636=)
c.8037C>T (p.Phe2679=)
c.8034C>T (p.Phe2678=)
c.7965C>T (p.Phe2655=)
c.7929C>T (p.Phe2643=)
c.7881C>T (p.Phe2627=)
c.7839C>T (p.Phe2613=)
8g.133133573A=CA1821104939TGc.8101A= (p.Ser2701=)
c.3467A=
c.2500A= (p.Ser834=)
c.313A= (p.Ser105=)
n.187A=
c.4756A=
c.7909A= (p.Ser2637=)
c.8038A= (p.Ser2680=)
c.8035A= (p.Ser2679=)
c.7966A= (p.Ser2656=)
c.7930A= (p.Ser2644=)
c.7882A= (p.Ser2628=)
c.7840A= (p.Ser2614=)
8g.133133573A>CCA372253386TGc.8101A>C (p.Ser2701Arg)
c.3467A>C
c.2500A>C (p.Ser834Arg)
c.313A>C (p.Ser105Arg)
n.187A>C
c.4756A>C
c.7909A>C (p.Ser2637Arg)
c.8038A>C (p.Ser2680Arg)
c.8035A>C (p.Ser2679Arg)
c.7966A>C (p.Ser2656Arg)
c.7930A>C (p.Ser2644Arg)
c.7882A>C (p.Ser2628Arg)
c.7840A>C (p.Ser2614Arg)
8g.133133573A>GCA186356750TGc.8101A>G (p.Ser2701Gly)
c.3467A>G
c.2500A>G (p.Ser834Gly)
c.313A>G (p.Ser105Gly)
n.187A>G
c.4756A>G
c.7909A>G (p.Ser2637Gly)
c.8038A>G (p.Ser2680Gly)
c.8035A>G (p.Ser2679Gly)
c.7966A>G (p.Ser2656Gly)
c.7930A>G (p.Ser2644Gly)
c.7882A>G (p.Ser2628Gly)
c.7840A>G (p.Ser2614Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.133133573A>TCA372253387TGc.8101A>T (p.Ser2701Cys)
c.3467A>T
c.2500A>T (p.Ser834Cys)
c.313A>T (p.Ser105Cys)
n.187A>T
c.4756A>T
c.7909A>T (p.Ser2637Cys)
c.8038A>T (p.Ser2680Cys)
c.8035A>T (p.Ser2679Cys)
c.7966A>T (p.Ser2656Cys)
c.7930A>T (p.Ser2644Cys)
c.7882A>T (p.Ser2628Cys)
c.7840A>T (p.Ser2614Cys)
8g.133133574G>ACA4885894TGc.8102G>A (p.Ser2701Asn)
c.3468G>A
c.2501G>A (p.Ser834Asn)
c.314G>A (p.Ser105Asn)
n.188G>A
c.4757G>A
c.7910G>A (p.Ser2637Asn)
c.8039G>A (p.Ser2680Asn)
c.8036G>A (p.Ser2679Asn)
c.7967G>A (p.Ser2656Asn)
c.7931G>A (p.Ser2644Asn)
c.7883G>A (p.Ser2628Asn)
c.7841G>A (p.Ser2614Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133574G>CCA372253389TGc.8102G>C (p.Ser2701Thr)
c.3468G>C
c.2501G>C (p.Ser834Thr)
c.314G>C (p.Ser105Thr)
n.188G>C
c.4757G>C
c.7910G>C (p.Ser2637Thr)
c.8039G>C (p.Ser2680Thr)
c.8036G>C (p.Ser2679Thr)
c.7967G>C (p.Ser2656Thr)
c.7931G>C (p.Ser2644Thr)
c.7883G>C (p.Ser2628Thr)
c.7841G>C (p.Ser2614Thr)
8g.133133574G=CA1821104940TGc.8102G= (p.Ser2701=)
c.3468G=
c.2501G= (p.Ser834=)
c.314G= (p.Ser105=)
n.188G=
c.4757G=
c.7910G= (p.Ser2637=)
c.8039G= (p.Ser2680=)
c.8036G= (p.Ser2679=)
c.7967G= (p.Ser2656=)
c.7931G= (p.Ser2644=)
c.7883G= (p.Ser2628=)
c.7841G= (p.Ser2614=)
8g.133133574G>TCA372253391TGc.8102G>T (p.Ser2701Ile)
c.3468G>T
c.2501G>T (p.Ser834Ile)
c.314G>T (p.Ser105Ile)
n.188G>T
c.4757G>T
c.7910G>T (p.Ser2637Ile)
c.8039G>T (p.Ser2680Ile)
c.8036G>T (p.Ser2679Ile)
c.7967G>T (p.Ser2656Ile)
c.7931G>T (p.Ser2644Ile)
c.7883G>T (p.Ser2628Ile)
c.7841G>T (p.Ser2614Ile)
8g.133133575T>ACA372253392TGc.8103T>A (p.Ser2701Arg)
c.3469T>A
c.2502T>A (p.Ser834Arg)
c.315T>A (p.Ser105Arg)
n.189T>A
c.4758T>A
c.7911T>A (p.Ser2637Arg)
c.8040T>A (p.Ser2680Arg)
c.8037T>A (p.Ser2679Arg)
c.7968T>A (p.Ser2656Arg)
c.7932T>A (p.Ser2644Arg)
c.7884T>A (p.Ser2628Arg)
c.7842T>A (p.Ser2614Arg)
8g.133133575T>CCA463017171TGc.8103T>C (p.Ser2701=)
c.3469T>C
c.2502T>C (p.Ser834=)
c.315T>C (p.Ser105=)
n.189T>C
c.4758T>C
c.7911T>C (p.Ser2637=)
c.8040T>C (p.Ser2680=)
c.8037T>C (p.Ser2679=)
c.7968T>C (p.Ser2656=)
c.7932T>C (p.Ser2644=)
c.7884T>C (p.Ser2628=)
c.7842T>C (p.Ser2614=)
8g.133133575T>GCA372253393TGc.8103T>G (p.Ser2701Arg)
c.3469T>G
c.2502T>G (p.Ser834Arg)
c.315T>G (p.Ser105Arg)
n.189T>G
c.4758T>G
c.7911T>G (p.Ser2637Arg)
c.8040T>G (p.Ser2680Arg)
c.8037T>G (p.Ser2679Arg)
c.7968T>G (p.Ser2656Arg)
c.7932T>G (p.Ser2644Arg)
c.7884T>G (p.Ser2628Arg)
c.7842T>G (p.Ser2614Arg)
 gnomAD v4
8g.133133576G>ACA186356788TGc.8104G>A (p.Glu2702Lys)
c.3470G>A
c.2503G>A (p.Glu835Lys)
c.316G>A (p.Glu106Lys)
n.190G>A
c.4759G>A
c.7912G>A (p.Glu2638Lys)
c.8041G>A (p.Glu2681Lys)
c.8038G>A (p.Glu2680Lys)
c.7969G>A (p.Glu2657Lys)
c.7933G>A (p.Glu2645Lys)
c.7885G>A (p.Glu2629Lys)
c.7843G>A (p.Glu2615Lys)
 dbSNP
8g.133133576G>CCA372253396TGc.8104G>C (p.Glu2702Gln)
c.3470G>C
c.2503G>C (p.Glu835Gln)
c.316G>C (p.Glu106Gln)
n.190G>C
c.4759G>C
c.7912G>C (p.Glu2638Gln)
c.8041G>C (p.Glu2681Gln)
c.8038G>C (p.Glu2680Gln)
c.7969G>C (p.Glu2657Gln)
c.7933G>C (p.Glu2645Gln)
c.7885G>C (p.Glu2629Gln)
c.7843G>C (p.Glu2615Gln)
8g.133133576G=CA1821104941TGc.8104G= (p.Glu2702=)
c.3470G=
c.2503G= (p.Glu835=)
c.316G= (p.Glu106=)
n.190G=
c.4759G=
c.7912G= (p.Glu2638=)
c.8041G= (p.Glu2681=)
c.8038G= (p.Glu2680=)
c.7969G= (p.Glu2657=)
c.7933G= (p.Glu2645=)
c.7885G= (p.Glu2629=)
c.7843G= (p.Glu2615=)
8g.133133576G>TCA372253398TGc.8104G>T (p.Glu2702Ter)
c.3470G>T
c.2503G>T (p.Glu835Ter)
c.316G>T (p.Glu106Ter)
n.190G>T
c.4759G>T
c.7912G>T (p.Glu2638Ter)
c.8041G>T (p.Glu2681Ter)
c.8038G>T (p.Glu2680Ter)
c.7969G>T (p.Glu2657Ter)
c.7933G>T (p.Glu2645Ter)
c.7885G>T (p.Glu2629Ter)
c.7843G>T (p.Glu2615Ter)
8g.133133577A>CCA372253400TGc.8105A>C (p.Glu2702Ala)
c.3471A>C
c.2504A>C (p.Glu835Ala)
c.317A>C (p.Glu106Ala)
n.191A>C
c.4760A>C
c.7913A>C (p.Glu2638Ala)
c.8042A>C (p.Glu2681Ala)
c.8039A>C (p.Glu2680Ala)
c.7970A>C (p.Glu2657Ala)
c.7934A>C (p.Glu2645Ala)
c.7886A>C (p.Glu2629Ala)
c.7844A>C (p.Glu2615Ala)
 dbSNP
8g.133133577A>GCA372253402TGc.8105A>G (p.Glu2702Gly)
c.3471A>G
c.2504A>G (p.Glu835Gly)
c.317A>G (p.Glu106Gly)
n.191A>G
c.4760A>G
c.7913A>G (p.Glu2638Gly)
c.8042A>G (p.Glu2681Gly)
c.8039A>G (p.Glu2680Gly)
c.7970A>G (p.Glu2657Gly)
c.7934A>G (p.Glu2645Gly)
c.7886A>G (p.Glu2629Gly)
c.7844A>G (p.Glu2615Gly)
8g.133133577A>TCA372253401TGc.8105A>T (p.Glu2702Val)
c.3471A>T
c.2504A>T (p.Glu835Val)
c.317A>T (p.Glu106Val)
n.191A>T
c.4760A>T
c.7913A>T (p.Glu2638Val)
c.8042A>T (p.Glu2681Val)
c.8039A>T (p.Glu2680Val)
c.7970A>T (p.Glu2657Val)
c.7934A>T (p.Glu2645Val)
c.7886A>T (p.Glu2629Val)
c.7844A>T (p.Glu2615Val)
8g.133133578G>ACA463017175TGc.8106G>A (p.Glu2702=)
c.3472G>A
c.2505G>A (p.Glu835=)
c.318G>A (p.Glu106=)
n.192G>A
c.4761G>A
c.7914G>A (p.Glu2638=)
c.8043G>A (p.Glu2681=)
c.8040G>A (p.Glu2680=)
c.7971G>A (p.Glu2657=)
c.7935G>A (p.Glu2645=)
c.7887G>A (p.Glu2629=)
c.7845G>A (p.Glu2615=)
8g.133133578G>CCA372253404TGc.8106G>C (p.Glu2702Asp)
c.3472G>C
c.2505G>C (p.Glu835Asp)
c.318G>C (p.Glu106Asp)
n.192G>C
c.4761G>C
c.7914G>C (p.Glu2638Asp)
c.8043G>C (p.Glu2681Asp)
c.8040G>C (p.Glu2680Asp)
c.7971G>C (p.Glu2657Asp)
c.7935G>C (p.Glu2645Asp)
c.7887G>C (p.Glu2629Asp)
c.7845G>C (p.Glu2615Asp)
8g.133133578G>TCA372253405TGc.8106G>T (p.Glu2702Asp)
c.3472G>T
c.2505G>T (p.Glu835Asp)
c.318G>T (p.Glu106Asp)
n.192G>T
c.4761G>T
c.7914G>T (p.Glu2638Asp)
c.8043G>T (p.Glu2681Asp)
c.8040G>T (p.Glu2680Asp)
c.7971G>T (p.Glu2657Asp)
c.7935G>T (p.Glu2645Asp)
c.7887G>T (p.Glu2629Asp)
c.7845G>T (p.Glu2615Asp)
8g.133133581_133133583dupCA2579255375TGc.8109_8111dup (p.Leu2704_Pro2705insLeu)
c.3475_3477dup
c.2508_2510dup (p.Leu837_Pro838insLeu)
c.321_323dup (p.Leu108_Pro109insLeu)
n.195_197dup
c.4764_4766dup
c.7917_7919dup (p.Leu2640_Pro2641insLeu)
c.8046_8048dup (p.Leu2683_Pro2684insLeu)
c.8043_8045dup (p.Leu2682_Pro2683insLeu)
c.7974_7976dup (p.Leu2659_Pro2660insLeu)
c.7938_7940dup (p.Leu2647_Pro2648insLeu)
c.7890_7892dup (p.Leu2631_Pro2632insLeu)
c.7848_7850dup (p.Leu2617_Pro2618insLeu)
 gnomAD v4
8g.133133579C>ACA372253407TGc.8107C>A (p.Leu2703Met)
c.3473C>A
c.2506C>A (p.Leu836Met)
c.319C>A (p.Leu107Met)
n.193C>A
c.4762C>A
c.7915C>A (p.Leu2639Met)
c.8044C>A (p.Leu2682Met)
c.8041C>A (p.Leu2681Met)
c.7972C>A (p.Leu2658Met)
c.7936C>A (p.Leu2646Met)
c.7888C>A (p.Leu2630Met)
c.7846C>A (p.Leu2616Met)
 gnomAD v4
8g.133133579C>GCA372253409TGc.8107C>G (p.Leu2703Val)
c.3473C>G
c.2506C>G (p.Leu836Val)
c.319C>G (p.Leu107Val)
n.193C>G
c.4762C>G
c.7915C>G (p.Leu2639Val)
c.8044C>G (p.Leu2682Val)
c.8041C>G (p.Leu2681Val)
c.7972C>G (p.Leu2658Val)
c.7936C>G (p.Leu2646Val)
c.7888C>G (p.Leu2630Val)
c.7846C>G (p.Leu2616Val)
8g.133133579C>TCA463017176TGc.8107C>T (p.Leu2703=)
c.3473C>T
c.2506C>T (p.Leu836=)
c.319C>T (p.Leu107=)
n.193C>T
c.4762C>T
c.7915C>T (p.Leu2639=)
c.8044C>T (p.Leu2682=)
c.8041C>T (p.Leu2681=)
c.7972C>T (p.Leu2658=)
c.7936C>T (p.Leu2646=)
c.7888C>T (p.Leu2630=)
c.7846C>T (p.Leu2616=)
 ClinVar
8g.133133580T>ACA372253410TGc.8108T>A (p.Leu2703Gln)
c.3474T>A
c.2507T>A (p.Leu836Gln)
c.320T>A (p.Leu107Gln)
n.194T>A
c.4763T>A
c.7916T>A (p.Leu2639Gln)
c.8045T>A (p.Leu2682Gln)
c.8042T>A (p.Leu2681Gln)
c.7973T>A (p.Leu2658Gln)
c.7937T>A (p.Leu2646Gln)
c.7889T>A (p.Leu2630Gln)
c.7847T>A (p.Leu2616Gln)
8g.133133580T>CCA372253412TGc.8108T>C (p.Leu2703Pro)
c.3474T>C
c.2507T>C (p.Leu836Pro)
c.320T>C (p.Leu107Pro)
n.194T>C
c.4763T>C
c.7916T>C (p.Leu2639Pro)
c.8045T>C (p.Leu2682Pro)
c.8042T>C (p.Leu2681Pro)
c.7973T>C (p.Leu2658Pro)
c.7937T>C (p.Leu2646Pro)
c.7889T>C (p.Leu2630Pro)
c.7847T>C (p.Leu2616Pro)
8g.133133580T>GCA372253414TGc.8108T>G (p.Leu2703Arg)
c.3474T>G
c.2507T>G (p.Leu836Arg)
c.320T>G (p.Leu107Arg)
n.194T>G
c.4763T>G
c.7916T>G (p.Leu2639Arg)
c.8045T>G (p.Leu2682Arg)
c.8042T>G (p.Leu2681Arg)
c.7973T>G (p.Leu2658Arg)
c.7937T>G (p.Leu2646Arg)
c.7889T>G (p.Leu2630Arg)
c.7847T>G (p.Leu2616Arg)
 gnomAD v4
8g.133133581G>ACA463017180TGc.8109G>A (p.Leu2703=)
c.3475G>A
c.2508G>A (p.Leu836=)
c.321G>A (p.Leu107=)
n.195G>A
c.4764G>A
c.7917G>A (p.Leu2639=)
c.8046G>A (p.Leu2682=)
c.8043G>A (p.Leu2681=)
c.7974G>A (p.Leu2658=)
c.7938G>A (p.Leu2646=)
c.7890G>A (p.Leu2630=)
c.7848G>A (p.Leu2616=)
8g.133133581G>CCA463017182TGc.8109G>C (p.Leu2703=)
c.3475G>C
c.2508G>C (p.Leu836=)
c.321G>C (p.Leu107=)
n.195G>C
c.4764G>C
c.7917G>C (p.Leu2639=)
c.8046G>C (p.Leu2682=)
c.8043G>C (p.Leu2681=)
c.7974G>C (p.Leu2658=)
c.7938G>C (p.Leu2646=)
c.7890G>C (p.Leu2630=)
c.7848G>C (p.Leu2616=)
8g.133133581G=CA1821104942TGc.8109G= (p.Leu2703=)
c.3475G=
c.2508G= (p.Leu836=)
c.321G= (p.Leu107=)
n.195G=
c.4764G=
c.7917G= (p.Leu2639=)
c.8046G= (p.Leu2682=)
c.8043G= (p.Leu2681=)
c.7974G= (p.Leu2658=)
c.7938G= (p.Leu2646=)
c.7890G= (p.Leu2630=)
c.7848G= (p.Leu2616=)
8g.133133581G>TCA463017183TGc.8109G>T (p.Leu2703=)
c.3475G>T
c.2508G>T (p.Leu836=)
c.321G>T (p.Leu107=)
n.195G>T
c.4764G>T
c.7917G>T (p.Leu2639=)
c.8046G>T (p.Leu2682=)
c.8043G>T (p.Leu2681=)
c.7974G>T (p.Leu2658=)
c.7938G>T (p.Leu2646=)
c.7890G>T (p.Leu2630=)
c.7848G>T (p.Leu2616=)
 dbSNP gnomAD v3 gnomAD v4
8g.133133582C>ACA372253417TGc.8110C>A (p.Leu2704Ile)
c.3476C>A
c.2509C>A (p.Leu837Ile)
c.322C>A (p.Leu108Ile)
n.196C>A
c.4765C>A
c.7918C>A (p.Leu2640Ile)
c.8047C>A (p.Leu2683Ile)
c.8044C>A (p.Leu2682Ile)
c.7975C>A (p.Leu2659Ile)
c.7939C>A (p.Leu2647Ile)
c.7891C>A (p.Leu2631Ile)
c.7849C>A (p.Leu2617Ile)
 COSMIC
8g.133133582C>GCA372253418TGc.8110C>G (p.Leu2704Val)
c.3476C>G
c.2509C>G (p.Leu837Val)
c.322C>G (p.Leu108Val)
n.196C>G
c.4765C>G
c.7918C>G (p.Leu2640Val)
c.8047C>G (p.Leu2683Val)
c.8044C>G (p.Leu2682Val)
c.7975C>G (p.Leu2659Val)
c.7939C>G (p.Leu2647Val)
c.7891C>G (p.Leu2631Val)
c.7849C>G (p.Leu2617Val)
8g.133133582C>TCA372253420TGc.8110C>T (p.Leu2704Phe)
c.3476C>T
c.2509C>T (p.Leu837Phe)
c.322C>T (p.Leu108Phe)
n.196C>T
c.4765C>T
c.7918C>T (p.Leu2640Phe)
c.8047C>T (p.Leu2683Phe)
c.8044C>T (p.Leu2682Phe)
c.7975C>T (p.Leu2659Phe)
c.7939C>T (p.Leu2647Phe)
c.7891C>T (p.Leu2631Phe)
c.7849C>T (p.Leu2617Phe)
8g.133133583T>ACA4885895TGc.8111T>A (p.Leu2704His)
c.3477T>A
c.2510T>A (p.Leu837His)
c.323T>A (p.Leu108His)
n.197T>A
c.4766T>A
c.7919T>A (p.Leu2640His)
c.8048T>A (p.Leu2683His)
c.8045T>A (p.Leu2682His)
c.7976T>A (p.Leu2659His)
c.7940T>A (p.Leu2647His)
c.7892T>A (p.Leu2631His)
c.7850T>A (p.Leu2617His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133583T>CCA372253423TGc.8111T>C (p.Leu2704Pro)
c.3477T>C
c.2510T>C (p.Leu837Pro)
c.323T>C (p.Leu108Pro)
n.197T>C
c.4766T>C
c.7919T>C (p.Leu2640Pro)
c.8048T>C (p.Leu2683Pro)
c.8045T>C (p.Leu2682Pro)
c.7976T>C (p.Leu2659Pro)
c.7940T>C (p.Leu2647Pro)
c.7892T>C (p.Leu2631Pro)
c.7850T>C (p.Leu2617Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.133133583T>GCA372253422TGc.8111T>G (p.Leu2704Arg)
c.3477T>G
c.2510T>G (p.Leu837Arg)
c.323T>G (p.Leu108Arg)
n.197T>G
c.4766T>G
c.7919T>G (p.Leu2640Arg)
c.8048T>G (p.Leu2683Arg)
c.8045T>G (p.Leu2682Arg)
c.7976T>G (p.Leu2659Arg)
c.7940T>G (p.Leu2647Arg)
c.7892T>G (p.Leu2631Arg)
c.7850T>G (p.Leu2617Arg)
8g.133133583T=CA1821104943TGc.8111T= (p.Leu2704=)
c.3477T=
c.2510T= (p.Leu837=)
c.323T= (p.Leu108=)
n.197T=
c.4766T=
c.7919T= (p.Leu2640=)
c.8048T= (p.Leu2683=)
c.8045T= (p.Leu2682=)
c.7976T= (p.Leu2659=)
c.7940T= (p.Leu2647=)
c.7892T= (p.Leu2631=)
c.7850T= (p.Leu2617=)
8g.133133584C>ACA463017188TGc.8112C>A (p.Leu2704=)
c.3478C>A
c.2511C>A (p.Leu837=)
c.324C>A (p.Leu108=)
n.198C>A
c.4767C>A
c.7920C>A (p.Leu2640=)
c.8049C>A (p.Leu2683=)
c.8046C>A (p.Leu2682=)
c.7977C>A (p.Leu2659=)
c.7941C>A (p.Leu2647=)
c.7893C>A (p.Leu2631=)
c.7851C>A (p.Leu2617=)
8g.133133584C>GCA463017189TGc.8112C>G (p.Leu2704=)
c.3478C>G
c.2511C>G (p.Leu837=)
c.324C>G (p.Leu108=)
n.198C>G
c.4767C>G
c.7920C>G (p.Leu2640=)
c.8049C>G (p.Leu2683=)
c.8046C>G (p.Leu2682=)
c.7977C>G (p.Leu2659=)
c.7941C>G (p.Leu2647=)
c.7893C>G (p.Leu2631=)
c.7851C>G (p.Leu2617=)
8g.133133584C>TCA463017190TGc.8112C>T (p.Leu2704=)
c.3478C>T
c.2511C>T (p.Leu837=)
c.324C>T (p.Leu108=)
n.198C>T
c.4767C>T
c.7920C>T (p.Leu2640=)
c.8049C>T (p.Leu2683=)
c.8046C>T (p.Leu2682=)
c.7977C>T (p.Leu2659=)
c.7941C>T (p.Leu2647=)
c.7893C>T (p.Leu2631=)
c.7851C>T (p.Leu2617=)
 ClinVar gnomAD v4 COSMIC
8g.133133585C>ACA372253426TGc.8113C>A (p.Pro2705Thr)
c.3479C>A
c.2512C>A (p.Pro838Thr)
c.325C>A (p.Pro109Thr)
n.199C>A
c.4768C>A
c.7921C>A (p.Pro2641Thr)
c.8050C>A (p.Pro2684Thr)
c.8047C>A (p.Pro2683Thr)
c.7978C>A (p.Pro2660Thr)
c.7942C>A (p.Pro2648Thr)
c.7894C>A (p.Pro2632Thr)
c.7852C>A (p.Pro2618Thr)
 dbSNP
8g.133133585C>GCA372253429TGc.8113C>G (p.Pro2705Ala)
c.3479C>G
c.2512C>G (p.Pro838Ala)
c.325C>G (p.Pro109Ala)
n.199C>G
c.4768C>G
c.7921C>G (p.Pro2641Ala)
c.8050C>G (p.Pro2684Ala)
c.8047C>G (p.Pro2683Ala)
c.7978C>G (p.Pro2660Ala)
c.7942C>G (p.Pro2648Ala)
c.7894C>G (p.Pro2632Ala)
c.7852C>G (p.Pro2618Ala)
8g.133133585C>TCA372253427TGc.8113C>T (p.Pro2705Ser)
c.3479C>T
c.2512C>T (p.Pro838Ser)
c.325C>T (p.Pro109Ser)
n.199C>T
c.4768C>T
c.7921C>T (p.Pro2641Ser)
c.8050C>T (p.Pro2684Ser)
c.8047C>T (p.Pro2683Ser)
c.7978C>T (p.Pro2660Ser)
c.7942C>T (p.Pro2648Ser)
c.7894C>T (p.Pro2632Ser)
c.7852C>T (p.Pro2618Ser)
8g.133133586C>ACA372253431TGc.8114C>A (p.Pro2705His)
c.3480C>A
c.2513C>A (p.Pro838His)
c.326C>A (p.Pro109His)
n.200C>A
c.4769C>A
c.7922C>A (p.Pro2641His)
c.8051C>A (p.Pro2684His)
c.8048C>A (p.Pro2683His)
c.7979C>A (p.Pro2660His)
c.7943C>A (p.Pro2648His)
c.7895C>A (p.Pro2632His)
c.7853C>A (p.Pro2618His)
 dbSNP
8g.133133586C=CA1821104944TGc.8114C= (p.Pro2705=)
c.3480C=
c.2513C= (p.Pro838=)
c.326C= (p.Pro109=)
n.200C=
c.4769C=
c.7922C= (p.Pro2641=)
c.8051C= (p.Pro2684=)
c.8048C= (p.Pro2683=)
c.7979C= (p.Pro2660=)
c.7943C= (p.Pro2648=)
c.7895C= (p.Pro2632=)
c.7853C= (p.Pro2618=)
8g.133133586C>GCA372253433TGc.8114C>G (p.Pro2705Arg)
c.3480C>G
c.2513C>G (p.Pro838Arg)
c.326C>G (p.Pro109Arg)
n.200C>G
c.4769C>G
c.7922C>G (p.Pro2641Arg)
c.8051C>G (p.Pro2684Arg)
c.8048C>G (p.Pro2683Arg)
c.7979C>G (p.Pro2660Arg)
c.7943C>G (p.Pro2648Arg)
c.7895C>G (p.Pro2632Arg)
c.7853C>G (p.Pro2618Arg)
8g.133133586C>TCA372253434TGc.8114C>T (p.Pro2705Leu)
c.3480C>T
c.2513C>T (p.Pro838Leu)
c.326C>T (p.Pro109Leu)
n.200C>T
c.4769C>T
c.7922C>T (p.Pro2641Leu)
c.8051C>T (p.Pro2684Leu)
c.8048C>T (p.Pro2683Leu)
c.7979C>T (p.Pro2660Leu)
c.7943C>T (p.Pro2648Leu)
c.7895C>T (p.Pro2632Leu)
c.7853C>T (p.Pro2618Leu)
8g.133133587C>ACA463017197TGc.8115C>A (p.Pro2705=)
c.3481C>A
c.2514C>A (p.Pro838=)
c.327C>A (p.Pro109=)
n.201C>A
c.4770C>A
c.7923C>A (p.Pro2641=)
c.8052C>A (p.Pro2684=)
c.8049C>A (p.Pro2683=)
c.7980C>A (p.Pro2660=)
c.7944C>A (p.Pro2648=)
c.7896C>A (p.Pro2632=)
c.7854C>A (p.Pro2618=)
8g.133133587C>GCA463017195TGc.8115C>G (p.Pro2705=)
c.3481C>G
c.2514C>G (p.Pro838=)
c.327C>G (p.Pro109=)
n.201C>G
c.4770C>G
c.7923C>G (p.Pro2641=)
c.8052C>G (p.Pro2684=)
c.8049C>G (p.Pro2683=)
c.7980C>G (p.Pro2660=)
c.7944C>G (p.Pro2648=)
c.7896C>G (p.Pro2632=)
c.7854C>G (p.Pro2618=)
8g.133133587C>TCA463017196TGc.8115C>T (p.Pro2705=)
c.3481C>T
c.2514C>T (p.Pro838=)
c.327C>T (p.Pro109=)
n.201C>T
c.4770C>T
c.7923C>T (p.Pro2641=)
c.8052C>T (p.Pro2684=)
c.8049C>T (p.Pro2683=)
c.7980C>T (p.Pro2660=)
c.7944C>T (p.Pro2648=)
c.7896C>T (p.Pro2632=)
c.7854C>T (p.Pro2618=)
 gnomAD v4
8g.133133588A>CCA372253436TGc.8116A>C (p.Asn2706His)
c.3482A>C
c.2515A>C (p.Asn839His)
c.328A>C (p.Asn110His)
n.202A>C
c.4771A>C
c.7924A>C (p.Asn2642His)
c.8053A>C (p.Asn2685His)
c.8050A>C (p.Asn2684His)
c.7981A>C (p.Asn2661His)
c.7945A>C (p.Asn2649His)
c.7897A>C (p.Asn2633His)
c.7855A>C (p.Asn2619His)
8g.133133588A>GCA372253438TGc.8116A>G (p.Asn2706Asp)
c.3482A>G
c.2515A>G (p.Asn839Asp)
c.328A>G (p.Asn110Asp)
n.202A>G
c.4771A>G
c.7924A>G (p.Asn2642Asp)
c.8053A>G (p.Asn2685Asp)
c.8050A>G (p.Asn2684Asp)
c.7981A>G (p.Asn2661Asp)
c.7945A>G (p.Asn2649Asp)
c.7897A>G (p.Asn2633Asp)
c.7855A>G (p.Asn2619Asp)
8g.133133588A>TCA372253440TGc.8116A>T (p.Asn2706Tyr)
c.3482A>T
c.2515A>T (p.Asn839Tyr)
c.328A>T (p.Asn110Tyr)
n.202A>T
c.4771A>T
c.7924A>T (p.Asn2642Tyr)
c.8053A>T (p.Asn2685Tyr)
c.8050A>T (p.Asn2684Tyr)
c.7981A>T (p.Asn2661Tyr)
c.7945A>T (p.Asn2649Tyr)
c.7897A>T (p.Asn2633Tyr)
c.7855A>T (p.Asn2619Tyr)
8g.133133589A=CA1821104945TGc.8117A= (p.Asn2706=)
c.3483A=
c.2516A= (p.Asn839=)
c.329A= (p.Asn110=)
n.203A=
c.4772A=
c.7925A= (p.Asn2642=)
c.8054A= (p.Asn2685=)
c.8051A= (p.Asn2684=)
c.7982A= (p.Asn2661=)
c.7946A= (p.Asn2649=)
c.7898A= (p.Asn2633=)
c.7856A= (p.Asn2619=)
8g.133133589A>CCA372253442TGc.8117A>C (p.Asn2706Thr)
c.3483A>C
c.2516A>C (p.Asn839Thr)
c.329A>C (p.Asn110Thr)
n.203A>C
c.4772A>C
c.7925A>C (p.Asn2642Thr)
c.8054A>C (p.Asn2685Thr)
c.8051A>C (p.Asn2684Thr)
c.7982A>C (p.Asn2661Thr)
c.7946A>C (p.Asn2649Thr)
c.7898A>C (p.Asn2633Thr)
c.7856A>C (p.Asn2619Thr)
8g.133133589A>GCA4885896TGc.8117A>G (p.Asn2706Ser)
c.3483A>G
c.2516A>G (p.Asn839Ser)
c.329A>G (p.Asn110Ser)
n.203A>G
c.4772A>G
c.7925A>G (p.Asn2642Ser)
c.8054A>G (p.Asn2685Ser)
c.8051A>G (p.Asn2684Ser)
c.7982A>G (p.Asn2661Ser)
c.7946A>G (p.Asn2649Ser)
c.7898A>G (p.Asn2633Ser)
c.7856A>G (p.Asn2619Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133589A>TCA372253444TGc.8117A>T (p.Asn2706Ile)
c.3483A>T
c.2516A>T (p.Asn839Ile)
c.329A>T (p.Asn110Ile)
n.203A>T
c.4772A>T
c.7925A>T (p.Asn2642Ile)
c.8054A>T (p.Asn2685Ile)
c.8051A>T (p.Asn2684Ile)
c.7982A>T (p.Asn2661Ile)
c.7946A>T (p.Asn2649Ile)
c.7898A>T (p.Asn2633Ile)
c.7856A>T (p.Asn2619Ile)
8g.133133589_133133590insACACACCA2782278446TGc.8117_8118insACACAC (p.Asn2706delinsLysHisThr)
c.3483_3484insACACAC
c.2516_2517insACACAC (p.Asn839delinsLysHisThr)
c.329_330insACACAC (p.Asn110delinsLysHisThr)
n.203_204insACACAC
c.4772_4773insACACAC
c.7925_7926insACACAC (p.Asn2642delinsLysHisThr)
c.8054_8055insACACAC (p.Asn2685delinsLysHisThr)
c.8051_8052insACACAC (p.Asn2684delinsLysHisThr)
c.7982_7983insACACAC (p.Asn2661delinsLysHisThr)
c.7946_7947insACACAC (p.Asn2649delinsLysHisThr)
c.7898_7899insACACAC (p.Asn2633delinsLysHisThr)
c.7856_7857insACACAC (p.Asn2619delinsLysHisThr)
8g.133133590T>ACA372253445TGc.8118T>A (p.Asn2706Lys)
c.3484T>A
c.2517T>A (p.Asn839Lys)
c.330T>A (p.Asn110Lys)
n.204T>A
c.4773T>A
c.7926T>A (p.Asn2642Lys)
c.8055T>A (p.Asn2685Lys)
c.8052T>A (p.Asn2684Lys)
c.7983T>A (p.Asn2661Lys)
c.7947T>A (p.Asn2649Lys)
c.7899T>A (p.Asn2633Lys)
c.7857T>A (p.Asn2619Lys)
 gnomAD v4
8g.133133590T>CCA4885897TGc.8118T>C (p.Asn2706=)
c.3484T>C
c.2517T>C (p.Asn839=)
c.330T>C (p.Asn110=)
n.204T>C
c.4773T>C
c.7926T>C (p.Asn2642=)
c.8055T>C (p.Asn2685=)
c.8052T>C (p.Asn2684=)
c.7983T>C (p.Asn2661=)
c.7947T>C (p.Asn2649=)
c.7899T>C (p.Asn2633=)
c.7857T>C (p.Asn2619=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133590T>GCA372253448TGc.8118T>G (p.Asn2706Lys)
c.3484T>G
c.2517T>G (p.Asn839Lys)
c.330T>G (p.Asn110Lys)
n.204T>G
c.4773T>G
c.7926T>G (p.Asn2642Lys)
c.8055T>G (p.Asn2685Lys)
c.8052T>G (p.Asn2684Lys)
c.7983T>G (p.Asn2661Lys)
c.7947T>G (p.Asn2649Lys)
c.7899T>G (p.Asn2633Lys)
c.7857T>G (p.Asn2619Lys)
8g.133133590T=CA1821104946TGc.8118T= (p.Asn2706=)
c.3484T=
c.2517T= (p.Asn839=)
c.330T= (p.Asn110=)
n.204T=
c.4773T=
c.7926T= (p.Asn2642=)
c.8055T= (p.Asn2685=)
c.8052T= (p.Asn2684=)
c.7983T= (p.Asn2661=)
c.7947T= (p.Asn2649=)
c.7899T= (p.Asn2633=)
c.7857T= (p.Asn2619=)
8g.133133591C>ACA463017202TGc.8119C>A (p.Arg2707=)
c.3485C>A
c.2518C>A (p.Arg840=)
c.331C>A (p.Arg111=)
n.205C>A
c.4774C>A
c.7927C>A (p.Arg2643=)
c.8056C>A (p.Arg2686=)
c.8053C>A (p.Arg2685=)
c.7984C>A (p.Arg2662=)
c.7948C>A (p.Arg2650=)
c.7900C>A (p.Arg2634=)
c.7858C>A (p.Arg2620=)
8g.133133591C=CA1821104947TGc.8119C= (p.Arg2707=)
c.3485C=
c.2518C= (p.Arg840=)
c.331C= (p.Arg111=)
n.205C=
c.4774C=
c.7927C= (p.Arg2643=)
c.8056C= (p.Arg2686=)
c.8053C= (p.Arg2685=)
c.7984C= (p.Arg2662=)
c.7948C= (p.Arg2650=)
c.7900C= (p.Arg2634=)
c.7858C= (p.Arg2620=)
8g.133133591C>GCA372253451TGc.8119C>G (p.Arg2707Gly)
c.3485C>G
c.2518C>G (p.Arg840Gly)
c.331C>G (p.Arg111Gly)
n.205C>G
c.4774C>G
c.7927C>G (p.Arg2643Gly)
c.8056C>G (p.Arg2686Gly)
c.8053C>G (p.Arg2685Gly)
c.7984C>G (p.Arg2662Gly)
c.7948C>G (p.Arg2650Gly)
c.7900C>G (p.Arg2634Gly)
c.7858C>G (p.Arg2620Gly)
8g.133133591C>TCA186356815TGc.8119C>T (p.Arg2707Ter)
c.3485C>T
c.2518C>T (p.Arg840Ter)
c.331C>T (p.Arg111Ter)
n.205C>T
c.4774C>T
c.7927C>T (p.Arg2643Ter)
c.8056C>T (p.Arg2686Ter)
c.8053C>T (p.Arg2685Ter)
c.7984C>T (p.Arg2662Ter)
c.7948C>T (p.Arg2650Ter)
c.7900C>T (p.Arg2634Ter)
c.7858C>T (p.Arg2620Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.133133592G>ACA4885898TGc.8120G>A (p.Arg2707Gln)
c.3486G>A
c.2519G>A (p.Arg840Gln)
c.332G>A (p.Arg111Gln)
n.206G>A
c.4775G>A
c.7928G>A (p.Arg2643Gln)
c.8057G>A (p.Arg2686Gln)
c.8054G>A (p.Arg2685Gln)
c.7985G>A (p.Arg2662Gln)
c.7949G>A (p.Arg2650Gln)
c.7901G>A (p.Arg2634Gln)
c.7859G>A (p.Arg2620Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133592G>CCA372253453TGc.8120G>C (p.Arg2707Pro)
c.3486G>C
c.2519G>C (p.Arg840Pro)
c.332G>C (p.Arg111Pro)
n.206G>C
c.4775G>C
c.7928G>C (p.Arg2643Pro)
c.8057G>C (p.Arg2686Pro)
c.8054G>C (p.Arg2685Pro)
c.7985G>C (p.Arg2662Pro)
c.7949G>C (p.Arg2650Pro)
c.7901G>C (p.Arg2634Pro)
c.7859G>C (p.Arg2620Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.133133592G=CA1821104948TGc.8120G= (p.Arg2707=)
c.3486G=
c.2519G= (p.Arg840=)
c.332G= (p.Arg111=)
n.206G=
c.4775G=
c.7928G= (p.Arg2643=)
c.8057G= (p.Arg2686=)
c.8054G= (p.Arg2685=)
c.7985G= (p.Arg2662=)
c.7949G= (p.Arg2650=)
c.7901G= (p.Arg2634=)
c.7859G= (p.Arg2620=)
8g.133133592G>TCA372253455TGc.8120G>T (p.Arg2707Leu)
c.3486G>T
c.2519G>T (p.Arg840Leu)
c.332G>T (p.Arg111Leu)
n.206G>T
c.4775G>T
c.7928G>T (p.Arg2643Leu)
c.8057G>T (p.Arg2686Leu)
c.8054G>T (p.Arg2685Leu)
c.7985G>T (p.Arg2662Leu)
c.7949G>T (p.Arg2650Leu)
c.7901G>T (p.Arg2634Leu)
c.7859G>T (p.Arg2620Leu)
 gnomAD v4
8g.133133593A>CCA463017206TGc.8121A>C (p.Arg2707=)
c.3487A>C
c.2520A>C (p.Arg840=)
c.333A>C (p.Arg111=)
n.207A>C
c.4776A>C
c.7929A>C (p.Arg2643=)
c.8058A>C (p.Arg2686=)
c.8055A>C (p.Arg2685=)
c.7986A>C (p.Arg2662=)
c.7950A>C (p.Arg2650=)
c.7902A>C (p.Arg2634=)
c.7860A>C (p.Arg2620=)
8g.133133593A>GCA463017205TGc.8121A>G (p.Arg2707=)
c.3487A>G
c.2520A>G (p.Arg840=)
c.333A>G (p.Arg111=)
n.207A>G
c.4776A>G
c.7929A>G (p.Arg2643=)
c.8058A>G (p.Arg2686=)
c.8055A>G (p.Arg2685=)
c.7986A>G (p.Arg2662=)
c.7950A>G (p.Arg2650=)
c.7902A>G (p.Arg2634=)
c.7860A>G (p.Arg2620=)
8g.133133593A>TCA463017207TGc.8121A>T (p.Arg2707=)
c.3487A>T
c.2520A>T (p.Arg840=)
c.333A>T (p.Arg111=)
n.207A>T
c.4776A>T
c.7929A>T (p.Arg2643=)
c.8058A>T (p.Arg2686=)
c.8055A>T (p.Arg2685=)
c.7986A>T (p.Arg2662=)
c.7950A>T (p.Arg2650=)
c.7902A>T (p.Arg2634=)
c.7860A>T (p.Arg2620=)
8g.133133594C>ACA372253456TGc.8122C>A (p.Gln2708Lys)
c.3488C>A
c.2521C>A (p.Gln841Lys)
c.334C>A (p.Gln112Lys)
n.208C>A
c.4777C>A
c.7930C>A (p.Gln2644Lys)
c.8059C>A (p.Gln2687Lys)
c.8056C>A (p.Gln2686Lys)
c.7987C>A (p.Gln2663Lys)
c.7951C>A (p.Gln2651Lys)
c.7903C>A (p.Gln2635Lys)
c.7861C>A (p.Gln2621Lys)
8g.133133594C=CA1821104949TGc.8122C= (p.Gln2708=)
c.3488C=
c.2521C= (p.Gln841=)
c.334C= (p.Gln112=)
n.208C=
c.4777C=
c.7930C= (p.Gln2644=)
c.8059C= (p.Gln2687=)
c.8056C= (p.Gln2686=)
c.7987C= (p.Gln2663=)
c.7951C= (p.Gln2651=)
c.7903C= (p.Gln2635=)
c.7861C= (p.Gln2621=)
8g.133133594C>GCA372253458TGc.8122C>G (p.Gln2708Glu)
c.3488C>G
c.2521C>G (p.Gln841Glu)
c.334C>G (p.Gln112Glu)
n.208C>G
c.4777C>G
c.7930C>G (p.Gln2644Glu)
c.8059C>G (p.Gln2687Glu)
c.8056C>G (p.Gln2686Glu)
c.7987C>G (p.Gln2663Glu)
c.7951C>G (p.Gln2651Glu)
c.7903C>G (p.Gln2635Glu)
c.7861C>G (p.Gln2621Glu)
8g.133133594C>TCA4885899TGc.8122C>T (p.Gln2708Ter)
c.3488C>T
c.2521C>T (p.Gln841Ter)
c.334C>T (p.Gln112Ter)
n.208C>T
c.4777C>T
c.7930C>T (p.Gln2644Ter)
c.8059C>T (p.Gln2687Ter)
c.8056C>T (p.Gln2686Ter)
c.7987C>T (p.Gln2663Ter)
c.7951C>T (p.Gln2651Ter)
c.7903C>T (p.Gln2635Ter)
c.7861C>T (p.Gln2621Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133595A>CCA372253460TGc.8123A>C (p.Gln2708Pro)
c.3489A>C
c.2522A>C (p.Gln841Pro)
c.335A>C (p.Gln112Pro)
n.209A>C
c.4778A>C
c.7931A>C (p.Gln2644Pro)
c.8060A>C (p.Gln2687Pro)
c.8057A>C (p.Gln2686Pro)
c.7988A>C (p.Gln2663Pro)
c.7952A>C (p.Gln2651Pro)
c.7904A>C (p.Gln2635Pro)
c.7862A>C (p.Gln2621Pro)
8g.133133595A>GCA372253461TGc.8123A>G (p.Gln2708Arg)
c.3489A>G
c.2522A>G (p.Gln841Arg)
c.335A>G (p.Gln112Arg)
n.209A>G
c.4778A>G
c.7931A>G (p.Gln2644Arg)
c.8060A>G (p.Gln2687Arg)
c.8057A>G (p.Gln2686Arg)
c.7988A>G (p.Gln2663Arg)
c.7952A>G (p.Gln2651Arg)
c.7904A>G (p.Gln2635Arg)
c.7862A>G (p.Gln2621Arg)
8g.133133595A>TCA372253463TGc.8123A>T (p.Gln2708Leu)
c.3489A>T
c.2522A>T (p.Gln841Leu)
c.335A>T (p.Gln112Leu)
n.209A>T
c.4778A>T
c.7931A>T (p.Gln2644Leu)
c.8060A>T (p.Gln2687Leu)
c.8057A>T (p.Gln2686Leu)
c.7988A>T (p.Gln2663Leu)
c.7952A>T (p.Gln2651Leu)
c.7904A>T (p.Gln2635Leu)
c.7862A>T (p.Gln2621Leu)
8g.133133596G>ACA4885900TGc.8124G>A (p.Gln2708=)
c.3490G>A
c.2523G>A (p.Gln841=)
c.336G>A (p.Gln112=)
n.210G>A
c.4779G>A
c.7932G>A (p.Gln2644=)
c.8061G>A (p.Gln2687=)
c.8058G>A (p.Gln2686=)
c.7989G>A (p.Gln2663=)
c.7953G>A (p.Gln2651=)
c.7905G>A (p.Gln2635=)
c.7863G>A (p.Gln2621=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133596G>CCA372253466TGc.8124G>C (p.Gln2708His)
c.3490G>C
c.2523G>C (p.Gln841His)
c.336G>C (p.Gln112His)
n.210G>C
c.4779G>C
c.7932G>C (p.Gln2644His)
c.8061G>C (p.Gln2687His)
c.8058G>C (p.Gln2686His)
c.7989G>C (p.Gln2663His)
c.7953G>C (p.Gln2651His)
c.7905G>C (p.Gln2635His)
c.7863G>C (p.Gln2621His)
8g.133133596G=CA1821104950TGc.8124G= (p.Gln2708=)
c.3490G=
c.2523G= (p.Gln841=)
c.336G= (p.Gln112=)
n.210G=
c.4779G=
c.7932G= (p.Gln2644=)
c.8061G= (p.Gln2687=)
c.8058G= (p.Gln2686=)
c.7989G= (p.Gln2663=)
c.7953G= (p.Gln2651=)
c.7905G= (p.Gln2635=)
c.7863G= (p.Gln2621=)
8g.133133596G>TCA372253467TGc.8124G>T (p.Gln2708His)
c.3490G>T
c.2523G>T (p.Gln841His)
c.336G>T (p.Gln112His)
n.210G>T
c.4779G>T
c.7932G>T (p.Gln2644His)
c.8061G>T (p.Gln2687His)
c.8058G>T (p.Gln2686His)
c.7989G>T (p.Gln2663His)
c.7953G>T (p.Gln2651His)
c.7905G>T (p.Gln2635His)
c.7863G>T (p.Gln2621His)
8g.133133597G>ACA372253473TGc.8125G>A (p.Gly2709Ser)
c.3491G>A
c.2524G>A (p.Gly842Ser)
c.337G>A (p.Gly113Ser)
n.211G>A
c.4780G>A
c.7933G>A (p.Gly2645Ser)
c.8062G>A (p.Gly2688Ser)
c.8059G>A (p.Gly2687Ser)
c.7990G>A (p.Gly2664Ser)
c.7954G>A (p.Gly2652Ser)
c.7906G>A (p.Gly2636Ser)
c.7864G>A (p.Gly2622Ser)
8g.133133597G>CCA372253471TGc.8125G>C (p.Gly2709Arg)
c.3491G>C
c.2524G>C (p.Gly842Arg)
c.337G>C (p.Gly113Arg)
n.211G>C
c.4780G>C
c.7933G>C (p.Gly2645Arg)
c.8062G>C (p.Gly2688Arg)
c.8059G>C (p.Gly2687Arg)
c.7990G>C (p.Gly2664Arg)
c.7954G>C (p.Gly2652Arg)
c.7906G>C (p.Gly2636Arg)
c.7864G>C (p.Gly2622Arg)
8g.133133597G>TCA372253469TGc.8125G>T (p.Gly2709Cys)
c.3491G>T
c.2524G>T (p.Gly842Cys)
c.337G>T (p.Gly113Cys)
n.211G>T
c.4780G>T
c.7933G>T (p.Gly2645Cys)
c.8062G>T (p.Gly2688Cys)
c.8059G>T (p.Gly2687Cys)
c.7990G>T (p.Gly2664Cys)
c.7954G>T (p.Gly2652Cys)
c.7906G>T (p.Gly2636Cys)
c.7864G>T (p.Gly2622Cys)
8g.133133598G>ACA372253475TGc.8126G>A (p.Gly2709Asp)
c.3492G>A
c.2525G>A (p.Gly842Asp)
c.338G>A (p.Gly113Asp)
n.212G>A
c.4781G>A
c.7934G>A (p.Gly2645Asp)
c.8063G>A (p.Gly2688Asp)
c.8060G>A (p.Gly2687Asp)
c.7991G>A (p.Gly2664Asp)
c.7955G>A (p.Gly2652Asp)
c.7907G>A (p.Gly2636Asp)
c.7865G>A (p.Gly2622Asp)
8g.133133598G>CCA372253478TGc.8126G>C (p.Gly2709Ala)
c.3492G>C
c.2525G>C (p.Gly842Ala)
c.338G>C (p.Gly113Ala)
n.212G>C
c.4781G>C
c.7934G>C (p.Gly2645Ala)
c.8063G>C (p.Gly2688Ala)
c.8060G>C (p.Gly2687Ala)
c.7991G>C (p.Gly2664Ala)
c.7955G>C (p.Gly2652Ala)
c.7907G>C (p.Gly2636Ala)
c.7865G>C (p.Gly2622Ala)
8g.133133598G=CA1821104951TGc.8126G= (p.Gly2709=)
c.3492G=
c.2525G= (p.Gly842=)
c.338G= (p.Gly113=)
n.212G=
c.4781G=
c.7934G= (p.Gly2645=)
c.8063G= (p.Gly2688=)
c.8060G= (p.Gly2687=)
c.7991G= (p.Gly2664=)
c.7955G= (p.Gly2652=)
c.7907G= (p.Gly2636=)
c.7865G= (p.Gly2622=)
8g.133133598G>TCA372253479TGc.8126G>T (p.Gly2709Val)
c.3492G>T
c.2525G>T (p.Gly842Val)
c.338G>T (p.Gly113Val)
n.212G>T
c.4781G>T
c.7934G>T (p.Gly2645Val)
c.8063G>T (p.Gly2688Val)
c.8060G>T (p.Gly2687Val)
c.7991G>T (p.Gly2664Val)
c.7955G>T (p.Gly2652Val)
c.7907G>T (p.Gly2636Val)
c.7865G>T (p.Gly2622Val)
 dbSNP gnomAD v2 gnomAD v4
8g.133133599C>ACA463017213TGc.8127C>A (p.Gly2709=)
c.3493C>A
c.2526C>A (p.Gly842=)
c.339C>A (p.Gly113=)
n.213C>A
c.4782C>A
c.7935C>A (p.Gly2645=)
c.8064C>A (p.Gly2688=)
c.8061C>A (p.Gly2687=)
c.7992C>A (p.Gly2664=)
c.7956C>A (p.Gly2652=)
c.7908C>A (p.Gly2636=)
c.7866C>A (p.Gly2622=)
8g.133133599C>GCA463017214TGc.8127C>G (p.Gly2709=)
c.3493C>G
c.2526C>G (p.Gly842=)
c.339C>G (p.Gly113=)
n.213C>G
c.4782C>G
c.7935C>G (p.Gly2645=)
c.8064C>G (p.Gly2688=)
c.8061C>G (p.Gly2687=)
c.7992C>G (p.Gly2664=)
c.7956C>G (p.Gly2652=)
c.7908C>G (p.Gly2636=)
c.7866C>G (p.Gly2622=)
8g.133133599C>TCA463017216TGc.8127C>T (p.Gly2709=)
c.3493C>T
c.2526C>T (p.Gly842=)
c.339C>T (p.Gly113=)
n.213C>T
c.4782C>T
c.7935C>T (p.Gly2645=)
c.8064C>T (p.Gly2688=)
c.8061C>T (p.Gly2687=)
c.7992C>T (p.Gly2664=)
c.7956C>T (p.Gly2652=)
c.7908C>T (p.Gly2636=)
c.7866C>T (p.Gly2622=)
8g.133133600C>ACA372253481TGc.8128C>A (p.Leu2710Met)
c.3494C>A
c.2527C>A (p.Leu843Met)
c.340C>A (p.Leu114Met)
n.214C>A
c.4783C>A
c.7936C>A (p.Leu2646Met)
c.8065C>A (p.Leu2689Met)
c.8062C>A (p.Leu2688Met)
c.7993C>A (p.Leu2665Met)
c.7957C>A (p.Leu2653Met)
c.7909C>A (p.Leu2637Met)
c.7867C>A (p.Leu2623Met)
8g.133133600C>GCA372253483TGc.8128C>G (p.Leu2710Val)
c.3494C>G
c.2527C>G (p.Leu843Val)
c.340C>G (p.Leu114Val)
n.214C>G
c.4783C>G
c.7936C>G (p.Leu2646Val)
c.8065C>G (p.Leu2689Val)
c.8062C>G (p.Leu2688Val)
c.7993C>G (p.Leu2665Val)
c.7957C>G (p.Leu2653Val)
c.7909C>G (p.Leu2637Val)
c.7867C>G (p.Leu2623Val)
8g.133133600C>TCA463017217TGc.8128C>T (p.Leu2710=)
c.3494C>T
c.2527C>T (p.Leu843=)
c.340C>T (p.Leu114=)
n.214C>T
c.4783C>T
c.7936C>T (p.Leu2646=)
c.8065C>T (p.Leu2689=)
c.8062C>T (p.Leu2688=)
c.7993C>T (p.Leu2665=)
c.7957C>T (p.Leu2653=)
c.7909C>T (p.Leu2637=)
c.7867C>T (p.Leu2623=)
8g.133133601T>ACA372253485TGc.8129T>A (p.Leu2710Gln)
c.3495T>A
c.2528T>A (p.Leu843Gln)
c.341T>A (p.Leu114Gln)
n.215T>A
c.4784T>A
c.7937T>A (p.Leu2646Gln)
c.8066T>A (p.Leu2689Gln)
c.8063T>A (p.Leu2688Gln)
c.7994T>A (p.Leu2665Gln)
c.7958T>A (p.Leu2653Gln)
c.7910T>A (p.Leu2637Gln)
c.7868T>A (p.Leu2623Gln)
8g.133133601T>CCA372253486TGc.8129T>C (p.Leu2710Pro)
c.3495T>C
c.2528T>C (p.Leu843Pro)
c.341T>C (p.Leu114Pro)
n.215T>C
c.4784T>C
c.7937T>C (p.Leu2646Pro)
c.8066T>C (p.Leu2689Pro)
c.8063T>C (p.Leu2688Pro)
c.7994T>C (p.Leu2665Pro)
c.7958T>C (p.Leu2653Pro)
c.7910T>C (p.Leu2637Pro)
c.7868T>C (p.Leu2623Pro)
8g.133133601T>GCA4885901TGc.8129T>G (p.Leu2710Arg)
c.3495T>G
c.2528T>G (p.Leu843Arg)
c.341T>G (p.Leu114Arg)
n.215T>G
c.4784T>G
c.7937T>G (p.Leu2646Arg)
c.8066T>G (p.Leu2689Arg)
c.8063T>G (p.Leu2688Arg)
c.7994T>G (p.Leu2665Arg)
c.7958T>G (p.Leu2653Arg)
c.7910T>G (p.Leu2637Arg)
c.7868T>G (p.Leu2623Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133601T=CA1821104952TGc.8129T= (p.Leu2710=)
c.3495T=
c.2528T= (p.Leu843=)
c.341T= (p.Leu114=)
n.215T=
c.4784T=
c.7937T= (p.Leu2646=)
c.8066T= (p.Leu2689=)
c.8063T= (p.Leu2688=)
c.7994T= (p.Leu2665=)
c.7958T= (p.Leu2653=)
c.7910T= (p.Leu2637=)
c.7868T= (p.Leu2623=)
8g.133133602G>ACA463017220TGc.8130G>A (p.Leu2710=)
c.3496G>A
c.2529G>A (p.Leu843=)
c.342G>A (p.Leu114=)
n.216G>A
c.4785G>A
c.7938G>A (p.Leu2646=)
c.8067G>A (p.Leu2689=)
c.8064G>A (p.Leu2688=)
c.7995G>A (p.Leu2665=)
c.7959G>A (p.Leu2653=)
c.7911G>A (p.Leu2637=)
c.7869G>A (p.Leu2623=)
 dbSNP gnomAD v3 gnomAD v4
8g.133133602G>CCA463017221TGc.8130G>C (p.Leu2710=)
c.3496G>C
c.2529G>C (p.Leu843=)
c.342G>C (p.Leu114=)
n.216G>C
c.4785G>C
c.7938G>C (p.Leu2646=)
c.8067G>C (p.Leu2689=)
c.8064G>C (p.Leu2688=)
c.7995G>C (p.Leu2665=)
c.7959G>C (p.Leu2653=)
c.7911G>C (p.Leu2637=)
c.7869G>C (p.Leu2623=)
8g.133133602G=CA1821104953TGc.8130G= (p.Leu2710=)
c.3496G=
c.2529G= (p.Leu843=)
c.342G= (p.Leu114=)
n.216G=
c.4785G=
c.7938G= (p.Leu2646=)
c.8067G= (p.Leu2689=)
c.8064G= (p.Leu2688=)
c.7995G= (p.Leu2665=)
c.7959G= (p.Leu2653=)
c.7911G= (p.Leu2637=)
c.7869G= (p.Leu2623=)
8g.133133602G>TCA463017222TGc.8130G>T (p.Leu2710=)
c.3496G>T
c.2529G>T (p.Leu843=)
c.342G>T (p.Leu114=)
n.216G>T
c.4785G>T
c.7938G>T (p.Leu2646=)
c.8067G>T (p.Leu2689=)
c.8064G>T (p.Leu2688=)
c.7995G>T (p.Leu2665=)
c.7959G>T (p.Leu2653=)
c.7911G>T (p.Leu2637=)
c.7869G>T (p.Leu2623=)
8g.133133603A>CCA372253488TGc.8131A>C (p.Lys2711Gln)
c.3497A>C
c.2530A>C (p.Lys844Gln)
c.343A>C (p.Lys115Gln)
n.217A>C
c.4786A>C
c.7939A>C (p.Lys2647Gln)
c.8068A>C (p.Lys2690Gln)
c.8065A>C (p.Lys2689Gln)
c.7996A>C (p.Lys2666Gln)
c.7960A>C (p.Lys2654Gln)
c.7912A>C (p.Lys2638Gln)
c.7870A>C (p.Lys2624Gln)
8g.133133603A>GCA372253490TGc.8131A>G (p.Lys2711Glu)
c.3497A>G
c.2530A>G (p.Lys844Glu)
c.343A>G (p.Lys115Glu)
n.217A>G
c.4786A>G
c.7939A>G (p.Lys2647Glu)
c.8068A>G (p.Lys2690Glu)
c.8065A>G (p.Lys2689Glu)
c.7996A>G (p.Lys2666Glu)
c.7960A>G (p.Lys2654Glu)
c.7912A>G (p.Lys2638Glu)
c.7870A>G (p.Lys2624Glu)
8g.133133603A>TCA372253492TGc.8131A>T (p.Lys2711Ter)
c.3497A>T
c.2530A>T (p.Lys844Ter)
c.343A>T (p.Lys115Ter)
n.217A>T
c.4786A>T
c.7939A>T (p.Lys2647Ter)
c.8068A>T (p.Lys2690Ter)
c.8065A>T (p.Lys2689Ter)
c.7996A>T (p.Lys2666Ter)
c.7960A>T (p.Lys2654Ter)
c.7912A>T (p.Lys2638Ter)
c.7870A>T (p.Lys2624Ter)
 COSMIC
8g.133133604A>CCA372253494TGc.8132A>C (p.Lys2711Thr)
c.3498A>C
c.2531A>C (p.Lys844Thr)
c.344A>C (p.Lys115Thr)
n.218A>C
c.4787A>C
c.7940A>C (p.Lys2647Thr)
c.8069A>C (p.Lys2690Thr)
c.8066A>C (p.Lys2689Thr)
c.7997A>C (p.Lys2666Thr)
c.7961A>C (p.Lys2654Thr)
c.7913A>C (p.Lys2638Thr)
c.7871A>C (p.Lys2624Thr)
8g.133133604A>GCA372253496TGc.8132A>G (p.Lys2711Arg)
c.3498A>G
c.2531A>G (p.Lys844Arg)
c.344A>G (p.Lys115Arg)
n.218A>G
c.4787A>G
c.7940A>G (p.Lys2647Arg)
c.8069A>G (p.Lys2690Arg)
c.8066A>G (p.Lys2689Arg)
c.7997A>G (p.Lys2666Arg)
c.7961A>G (p.Lys2654Arg)
c.7913A>G (p.Lys2638Arg)
c.7871A>G (p.Lys2624Arg)
8g.133133604A>TCA372253497TGc.8132A>T (p.Lys2711Met)
c.3498A>T
c.2531A>T (p.Lys844Met)
c.344A>T (p.Lys115Met)
n.218A>T
c.4787A>T
c.7940A>T (p.Lys2647Met)
c.8069A>T (p.Lys2690Met)
c.8066A>T (p.Lys2689Met)
c.7997A>T (p.Lys2666Met)
c.7961A>T (p.Lys2654Met)
c.7913A>T (p.Lys2638Met)
c.7871A>T (p.Lys2624Met)
8g.133133605G>ACA463017224TGc.8133G>A (p.Lys2711=)
c.3499G>A
c.2532G>A (p.Lys844=)
c.345G>A (p.Lys115=)
n.219G>A
c.4788G>A
c.7941G>A (p.Lys2647=)
c.8070G>A (p.Lys2690=)
c.8067G>A (p.Lys2689=)
c.7998G>A (p.Lys2666=)
c.7962G>A (p.Lys2654=)
c.7914G>A (p.Lys2638=)
c.7872G>A (p.Lys2624=)
8g.133133605G>CCA372253498TGc.8133G>C (p.Lys2711Asn)
c.3499G>C
c.2532G>C (p.Lys844Asn)
c.345G>C (p.Lys115Asn)
n.219G>C
c.4788G>C
c.7941G>C (p.Lys2647Asn)
c.8070G>C (p.Lys2690Asn)
c.8067G>C (p.Lys2689Asn)
c.7998G>C (p.Lys2666Asn)
c.7962G>C (p.Lys2654Asn)
c.7914G>C (p.Lys2638Asn)
c.7872G>C (p.Lys2624Asn)
8g.133133605G>TCA372253502TGc.8133G>T (p.Lys2711Asn)
c.3499G>T
c.2532G>T (p.Lys844Asn)
c.345G>T (p.Lys115Asn)
n.219G>T
c.4788G>T
c.7941G>T (p.Lys2647Asn)
c.8070G>T (p.Lys2690Asn)
c.8067G>T (p.Lys2689Asn)
c.7998G>T (p.Lys2666Asn)
c.7962G>T (p.Lys2654Asn)
c.7914G>T (p.Lys2638Asn)
c.7872G>T (p.Lys2624Asn)
8g.133133606A>CCA372253505TGc.8134A>C (p.Lys2712Gln)
c.3500A>C
c.2533A>C (p.Lys845Gln)
c.346A>C (p.Lys116Gln)
n.220A>C
c.4789A>C
c.7942A>C (p.Lys2648Gln)
c.8071A>C (p.Lys2691Gln)
c.8068A>C (p.Lys2690Gln)
c.7999A>C (p.Lys2667Gln)
c.7963A>C (p.Lys2655Gln)
c.7915A>C (p.Lys2639Gln)
c.7873A>C (p.Lys2625Gln)
8g.133133606A>GCA372253509TGc.8134A>G (p.Lys2712Glu)
c.3500A>G
c.2533A>G (p.Lys845Glu)
c.346A>G (p.Lys116Glu)
n.220A>G
c.4789A>G
c.7942A>G (p.Lys2648Glu)
c.8071A>G (p.Lys2691Glu)
c.8068A>G (p.Lys2690Glu)
c.7999A>G (p.Lys2667Glu)
c.7963A>G (p.Lys2655Glu)
c.7915A>G (p.Lys2639Glu)
c.7873A>G (p.Lys2625Glu)
8g.133133606A>TCA372253511TGc.8134A>T (p.Lys2712Ter)
c.3500A>T
c.2533A>T (p.Lys845Ter)
c.346A>T (p.Lys116Ter)
n.220A>T
c.4789A>T
c.7942A>T (p.Lys2648Ter)
c.8071A>T (p.Lys2691Ter)
c.8068A>T (p.Lys2690Ter)
c.7999A>T (p.Lys2667Ter)
c.7963A>T (p.Lys2655Ter)
c.7915A>T (p.Lys2639Ter)
c.7873A>T (p.Lys2625Ter)
8g.133133607A>CCA372253513TGc.8135A>C (p.Lys2712Thr)
c.3501A>C
c.2534A>C (p.Lys845Thr)
c.347A>C (p.Lys116Thr)
n.221A>C
c.4790A>C
c.7943A>C (p.Lys2648Thr)
c.8072A>C (p.Lys2691Thr)
c.8069A>C (p.Lys2690Thr)
c.8000A>C (p.Lys2667Thr)
c.7964A>C (p.Lys2655Thr)
c.7916A>C (p.Lys2639Thr)
c.7874A>C (p.Lys2625Thr)
 gnomAD v4
8g.133133607A>GCA372253514TGc.8135A>G (p.Lys2712Arg)
c.3501A>G
c.2534A>G (p.Lys845Arg)
c.347A>G (p.Lys116Arg)
n.221A>G
c.4790A>G
c.7943A>G (p.Lys2648Arg)
c.8072A>G (p.Lys2691Arg)
c.8069A>G (p.Lys2690Arg)
c.8000A>G (p.Lys2667Arg)
c.7964A>G (p.Lys2655Arg)
c.7916A>G (p.Lys2639Arg)
c.7874A>G (p.Lys2625Arg)
8g.133133607A>TCA372253516TGc.8135A>T (p.Lys2712Ile)
c.3501A>T
c.2534A>T (p.Lys845Ile)
c.347A>T (p.Lys116Ile)
n.221A>T
c.4790A>T
c.7943A>T (p.Lys2648Ile)
c.8072A>T (p.Lys2691Ile)
c.8069A>T (p.Lys2690Ile)
c.8000A>T (p.Lys2667Ile)
c.7964A>T (p.Lys2655Ile)
c.7916A>T (p.Lys2639Ile)
c.7874A>T (p.Lys2625Ile)
8g.133133608A>CCA372253519TGc.8136A>C (p.Lys2712Asn)
c.3502A>C
c.2535A>C (p.Lys845Asn)
c.348A>C (p.Lys116Asn)
n.222A>C
c.4791A>C
c.7944A>C (p.Lys2648Asn)
c.8073A>C (p.Lys2691Asn)
c.8070A>C (p.Lys2690Asn)
c.8001A>C (p.Lys2667Asn)
c.7965A>C (p.Lys2655Asn)
c.7917A>C (p.Lys2639Asn)
c.7875A>C (p.Lys2625Asn)
8g.133133608A>GCA463017232TGc.8136A>G (p.Lys2712=)
c.3502A>G
c.2535A>G (p.Lys845=)
c.348A>G (p.Lys116=)
n.222A>G
c.4791A>G
c.7944A>G (p.Lys2648=)
c.8073A>G (p.Lys2691=)
c.8070A>G (p.Lys2690=)
c.8001A>G (p.Lys2667=)
c.7965A>G (p.Lys2655=)
c.7917A>G (p.Lys2639=)
c.7875A>G (p.Lys2625=)
8g.133133608A>TCA372253522TGc.8136A>T (p.Lys2712Asn)
c.3502A>T
c.2535A>T (p.Lys845Asn)
c.348A>T (p.Lys116Asn)
n.222A>T
c.4791A>T
c.7944A>T (p.Lys2648Asn)
c.8073A>T (p.Lys2691Asn)
c.8070A>T (p.Lys2690Asn)
c.8001A>T (p.Lys2667Asn)
c.7965A>T (p.Lys2655Asn)
c.7917A>T (p.Lys2639Asn)
c.7875A>T (p.Lys2625Asn)
 gnomAD v4
8g.133133609G>ACA4885902TGc.8137G>A (p.Ala2713Thr)
c.3503G>A
c.2536G>A (p.Ala846Thr)
c.349G>A (p.Ala117Thr)
n.223G>A
c.4792G>A
c.7945G>A (p.Ala2649Thr)
c.8074G>A (p.Ala2692Thr)
c.8071G>A (p.Ala2691Thr)
c.8002G>A (p.Ala2668Thr)
c.7966G>A (p.Ala2656Thr)
c.7918G>A (p.Ala2640Thr)
c.7876G>A (p.Ala2626Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133609G>CCA372253523TGc.8137G>C (p.Ala2713Pro)
c.3503G>C
c.2536G>C (p.Ala846Pro)
c.349G>C (p.Ala117Pro)
n.223G>C
c.4792G>C
c.7945G>C (p.Ala2649Pro)
c.8074G>C (p.Ala2692Pro)
c.8071G>C (p.Ala2691Pro)
c.8002G>C (p.Ala2668Pro)
c.7966G>C (p.Ala2656Pro)
c.7918G>C (p.Ala2640Pro)
c.7876G>C (p.Ala2626Pro)
 dbSNP
8g.133133609G=CA1821104954TGc.8137G= (p.Ala2713=)
c.3503G=
c.2536G= (p.Ala846=)
c.349G= (p.Ala117=)
n.223G=
c.4792G=
c.7945G= (p.Ala2649=)
c.8074G= (p.Ala2692=)
c.8071G= (p.Ala2691=)
c.8002G= (p.Ala2668=)
c.7966G= (p.Ala2656=)
c.7918G= (p.Ala2640=)
c.7876G= (p.Ala2626=)
8g.133133609G>TCA372253524TGc.8137G>T (p.Ala2713Ser)
c.3503G>T
c.2536G>T (p.Ala846Ser)
c.349G>T (p.Ala117Ser)
n.223G>T
c.4792G>T
c.7945G>T (p.Ala2649Ser)
c.8074G>T (p.Ala2692Ser)
c.8071G>T (p.Ala2691Ser)
c.8002G>T (p.Ala2668Ser)
c.7966G>T (p.Ala2656Ser)
c.7918G>T (p.Ala2640Ser)
c.7876G>T (p.Ala2626Ser)
 gnomAD v4
8g.133133610C>ACA372253527TGc.8138C>A (p.Ala2713Asp)
c.3504C>A
c.2537C>A (p.Ala846Asp)
c.350C>A (p.Ala117Asp)
n.224C>A
c.4793C>A
c.7946C>A (p.Ala2649Asp)
c.8075C>A (p.Ala2692Asp)
c.8072C>A (p.Ala2691Asp)
c.8003C>A (p.Ala2668Asp)
c.7967C>A (p.Ala2656Asp)
c.7919C>A (p.Ala2640Asp)
c.7877C>A (p.Ala2626Asp)
8g.133133610C>GCA372253526TGc.8138C>G (p.Ala2713Gly)
c.3504C>G
c.2537C>G (p.Ala846Gly)
c.350C>G (p.Ala117Gly)
n.224C>G
c.4793C>G
c.7946C>G (p.Ala2649Gly)
c.8075C>G (p.Ala2692Gly)
c.8072C>G (p.Ala2691Gly)
c.8003C>G (p.Ala2668Gly)
c.7967C>G (p.Ala2656Gly)
c.7919C>G (p.Ala2640Gly)
c.7877C>G (p.Ala2626Gly)
8g.133133610C>TCA372253525TGc.8138C>T (p.Ala2713Val)
c.3504C>T
c.2537C>T (p.Ala846Val)
c.350C>T (p.Ala117Val)
n.224C>T
c.4793C>T
c.7946C>T (p.Ala2649Val)
c.8075C>T (p.Ala2692Val)
c.8072C>T (p.Ala2691Val)
c.8003C>T (p.Ala2668Val)
c.7967C>T (p.Ala2656Val)
c.7919C>T (p.Ala2640Val)
c.7877C>T (p.Ala2626Val)
8g.133133611C>ACA463017235TGc.8139C>A (p.Ala2713=)
c.3505C>A
c.2538C>A (p.Ala846=)
c.351C>A (p.Ala117=)
n.225C>A
c.4794C>A
c.7947C>A (p.Ala2649=)
c.8076C>A (p.Ala2692=)
c.8073C>A (p.Ala2691=)
c.8004C>A (p.Ala2668=)
c.7968C>A (p.Ala2656=)
c.7920C>A (p.Ala2640=)
c.7878C>A (p.Ala2626=)
8g.133133611C=CA1821104955TGc.8139C= (p.Ala2713=)
c.3505C=
c.2538C= (p.Ala846=)
c.351C= (p.Ala117=)
n.225C=
c.4794C=
c.7947C= (p.Ala2649=)
c.8076C= (p.Ala2692=)
c.8073C= (p.Ala2691=)
c.8004C= (p.Ala2668=)
c.7968C= (p.Ala2656=)
c.7920C= (p.Ala2640=)
c.7878C= (p.Ala2626=)
8g.133133611C>GCA463017237TGc.8139C>G (p.Ala2713=)
c.3505C>G
c.2538C>G (p.Ala846=)
c.351C>G (p.Ala117=)
n.225C>G
c.4794C>G
c.7947C>G (p.Ala2649=)
c.8076C>G (p.Ala2692=)
c.8073C>G (p.Ala2691=)
c.8004C>G (p.Ala2668=)
c.7968C>G (p.Ala2656=)
c.7920C>G (p.Ala2640=)
c.7878C>G (p.Ala2626=)
8g.133133611C>TCA4885903TGc.8139C>T (p.Ala2713=)
c.3505C>T
c.2538C>T (p.Ala846=)
c.351C>T (p.Ala117=)
n.225C>T
c.4794C>T
c.7947C>T (p.Ala2649=)
c.8076C>T (p.Ala2692=)
c.8073C>T (p.Ala2691=)
c.8004C>T (p.Ala2668=)
c.7968C>T (p.Ala2656=)
c.7920C>T (p.Ala2640=)
c.7878C>T (p.Ala2626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133612G>ACA186356863TGc.8140G>A (p.Asp2714Asn)
c.3506G>A
c.2539G>A (p.Asp847Asn)
c.352G>A (p.Asp118Asn)
n.226G>A
c.4795G>A
c.7948G>A (p.Asp2650Asn)
c.8077G>A (p.Asp2693Asn)
c.8074G>A (p.Asp2692Asn)
c.8005G>A (p.Asp2669Asn)
c.7969G>A (p.Asp2657Asn)
c.7921G>A (p.Asp2641Asn)
c.7879G>A (p.Asp2627Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133133612G>CCA372253528TGc.8140G>C (p.Asp2714His)
c.3506G>C
c.2539G>C (p.Asp847His)
c.352G>C (p.Asp118His)
n.226G>C
c.4795G>C
c.7948G>C (p.Asp2650His)
c.8077G>C (p.Asp2693His)
c.8074G>C (p.Asp2692His)
c.8005G>C (p.Asp2669His)
c.7969G>C (p.Asp2657His)
c.7921G>C (p.Asp2641His)
c.7879G>C (p.Asp2627His)
8g.133133612G=CA1821104956TGc.8140G= (p.Asp2714=)
c.3506G=
c.2539G= (p.Asp847=)
c.352G= (p.Asp118=)
n.226G=
c.4795G=
c.7948G= (p.Asp2650=)
c.8077G= (p.Asp2693=)
c.8074G= (p.Asp2692=)
c.8005G= (p.Asp2669=)
c.7969G= (p.Asp2657=)
c.7921G= (p.Asp2641=)
c.7879G= (p.Asp2627=)
8g.133133612G>TCA372253530TGc.8140G>T (p.Asp2714Tyr)
c.3506G>T
c.2539G>T (p.Asp847Tyr)
c.352G>T (p.Asp118Tyr)
n.226G>T
c.4795G>T
c.7948G>T (p.Asp2650Tyr)
c.8077G>T (p.Asp2693Tyr)
c.8074G>T (p.Asp2692Tyr)
c.8005G>T (p.Asp2669Tyr)
c.7969G>T (p.Asp2657Tyr)
c.7921G>T (p.Asp2641Tyr)
c.7879G>T (p.Asp2627Tyr)
 COSMIC
8g.133133613A>CCA372253532TGc.8141A>C (p.Asp2714Ala)
c.3507A>C
c.2540A>C (p.Asp847Ala)
c.353A>C (p.Asp118Ala)
n.227A>C
c.4796A>C
c.7949A>C (p.Asp2650Ala)
c.8078A>C (p.Asp2693Ala)
c.8075A>C (p.Asp2692Ala)
c.8006A>C (p.Asp2669Ala)
c.7970A>C (p.Asp2657Ala)
c.7922A>C (p.Asp2641Ala)
c.7880A>C (p.Asp2627Ala)
8g.133133613A>GCA372253534TGc.8141A>G (p.Asp2714Gly)
c.3507A>G
c.2540A>G (p.Asp847Gly)
c.353A>G (p.Asp118Gly)
n.227A>G
c.4796A>G
c.7949A>G (p.Asp2650Gly)
c.8078A>G (p.Asp2693Gly)
c.8075A>G (p.Asp2692Gly)
c.8006A>G (p.Asp2669Gly)
c.7970A>G (p.Asp2657Gly)
c.7922A>G (p.Asp2641Gly)
c.7880A>G (p.Asp2627Gly)
8g.133133613A>TCA372253533TGc.8141A>T (p.Asp2714Val)
c.3507A>T
c.2540A>T (p.Asp847Val)
c.353A>T (p.Asp118Val)
n.227A>T
c.4796A>T
c.7949A>T (p.Asp2650Val)
c.8078A>T (p.Asp2693Val)
c.8075A>T (p.Asp2692Val)
c.8006A>T (p.Asp2669Val)
c.7970A>T (p.Asp2657Val)
c.7922A>T (p.Asp2641Val)
c.7880A>T (p.Asp2627Val)
8g.133133614C>ACA372253536TGc.8142C>A (p.Asp2714Glu)
c.3508C>A
c.2541C>A (p.Asp847Glu)
c.354C>A (p.Asp118Glu)
n.228C>A
c.4797C>A
c.7950C>A (p.Asp2650Glu)
c.8079C>A (p.Asp2693Glu)
c.8076C>A (p.Asp2692Glu)
c.8007C>A (p.Asp2669Glu)
c.7971C>A (p.Asp2657Glu)
c.7923C>A (p.Asp2641Glu)
c.7881C>A (p.Asp2627Glu)
8g.133133614C>GCA372253538TGc.8142C>G (p.Asp2714Glu)
c.3508C>G
c.2541C>G (p.Asp847Glu)
c.354C>G (p.Asp118Glu)
n.228C>G
c.4797C>G
c.7950C>G (p.Asp2650Glu)
c.8079C>G (p.Asp2693Glu)
c.8076C>G (p.Asp2692Glu)
c.8007C>G (p.Asp2669Glu)
c.7971C>G (p.Asp2657Glu)
c.7923C>G (p.Asp2641Glu)
c.7881C>G (p.Asp2627Glu)
8g.133133614C>TCA463017243TGc.8142C>T (p.Asp2714=)
c.3508C>T
c.2541C>T (p.Asp847=)
c.354C>T (p.Asp118=)
n.228C>T
c.4797C>T
c.7950C>T (p.Asp2650=)
c.8079C>T (p.Asp2693=)
c.8076C>T (p.Asp2692=)
c.8007C>T (p.Asp2669=)
c.7971C>T (p.Asp2657=)
c.7923C>T (p.Asp2641=)
c.7881C>T (p.Asp2627=)
 dbSNP
8g.133133615T>ACA372253540TGc.8143T>A (p.Cys2715Ser)
c.3509T>A
c.2542T>A (p.Cys848Ser)
c.355T>A (p.Cys119Ser)
n.229T>A
c.4798T>A
c.7951T>A (p.Cys2651Ser)
c.8080T>A (p.Cys2694Ser)
c.8077T>A (p.Cys2693Ser)
c.8008T>A (p.Cys2670Ser)
c.7972T>A (p.Cys2658Ser)
c.7924T>A (p.Cys2642Ser)
c.7882T>A (p.Cys2628Ser)
8g.133133615T>CCA372253542TGc.8143T>C (p.Cys2715Arg)
c.3509T>C
c.2542T>C (p.Cys848Arg)
c.355T>C (p.Cys119Arg)
n.229T>C
c.4798T>C
c.7951T>C (p.Cys2651Arg)
c.8080T>C (p.Cys2694Arg)
c.8077T>C (p.Cys2693Arg)
c.8008T>C (p.Cys2670Arg)
c.7972T>C (p.Cys2658Arg)
c.7924T>C (p.Cys2642Arg)
c.7882T>C (p.Cys2628Arg)
8g.133133615T>GCA372253543TGc.8143T>G (p.Cys2715Gly)
c.3509T>G
c.2542T>G (p.Cys848Gly)
c.355T>G (p.Cys119Gly)
n.229T>G
c.4798T>G
c.7951T>G (p.Cys2651Gly)
c.8080T>G (p.Cys2694Gly)
c.8077T>G (p.Cys2693Gly)
c.8008T>G (p.Cys2670Gly)
c.7972T>G (p.Cys2658Gly)
c.7924T>G (p.Cys2642Gly)
c.7882T>G (p.Cys2628Gly)
8g.133133616G>ACA372253546TGc.8144G>A (p.Cys2715Tyr)
c.3510G>A
c.2543G>A (p.Cys848Tyr)
c.356G>A (p.Cys119Tyr)
n.230G>A
c.4799G>A
c.7952G>A (p.Cys2651Tyr)
c.8081G>A (p.Cys2694Tyr)
c.8078G>A (p.Cys2693Tyr)
c.8009G>A (p.Cys2670Tyr)
c.7973G>A (p.Cys2658Tyr)
c.7925G>A (p.Cys2642Tyr)
c.7883G>A (p.Cys2628Tyr)
8g.133133616G>CCA4885904TGc.8144G>C (p.Cys2715Ser)
c.3510G>C
c.2543G>C (p.Cys848Ser)
c.356G>C (p.Cys119Ser)
n.230G>C
c.4799G>C
c.7952G>C (p.Cys2651Ser)
c.8081G>C (p.Cys2694Ser)
c.8078G>C (p.Cys2693Ser)
c.8009G>C (p.Cys2670Ser)
c.7973G>C (p.Cys2658Ser)
c.7925G>C (p.Cys2642Ser)
c.7883G>C (p.Cys2628Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133133616G=CA1821104957TGc.8144G= (p.Cys2715=)
c.3510G=
c.2543G= (p.Cys848=)
c.356G= (p.Cys119=)
n.230G=
c.4799G=
c.7952G= (p.Cys2651=)
c.8081G= (p.Cys2694=)
c.8078G= (p.Cys2693=)
c.8009G= (p.Cys2670=)
c.7973G= (p.Cys2658=)
c.7925G= (p.Cys2642=)
c.7883G= (p.Cys2628=)
8g.133133616G>TCA372253548TGc.8144G>T (p.Cys2715Phe)
c.3510G>T
c.2543G>T (p.Cys848Phe)
c.356G>T (p.Cys119Phe)
n.230G>T
c.4799G>T
c.7952G>T (p.Cys2651Phe)
c.8081G>T (p.Cys2694Phe)
c.8078G>T (p.Cys2693Phe)
c.8009G>T (p.Cys2670Phe)
c.7973G>T (p.Cys2658Phe)
c.7925G>T (p.Cys2642Phe)
c.7883G>T (p.Cys2628Phe)
8g.133133617C>ACA372253550TGc.8145C>A (p.Cys2715Ter)
c.3511C>A
c.2544C>A (p.Cys848Ter)
c.357C>A (p.Cys119Ter)
n.231C>A
c.4800C>A
c.7953C>A (p.Cys2651Ter)
c.8082C>A (p.Cys2694Ter)
c.8079C>A (p.Cys2693Ter)
c.8010C>A (p.Cys2670Ter)
c.7974C>A (p.Cys2658Ter)
c.7926C>A (p.Cys2642Ter)
c.7884C>A (p.Cys2628Ter)
8g.133133617C>GCA372253552TGc.8145C>G (p.Cys2715Trp)
c.3511C>G
c.2544C>G (p.Cys848Trp)
c.357C>G (p.Cys119Trp)
n.231C>G
c.4800C>G
c.7953C>G (p.Cys2651Trp)
c.8082C>G (p.Cys2694Trp)
c.8079C>G (p.Cys2693Trp)
c.8010C>G (p.Cys2670Trp)
c.7974C>G (p.Cys2658Trp)
c.7926C>G (p.Cys2642Trp)
c.7884C>G (p.Cys2628Trp)
 gnomAD v4
8g.133133617C>TCA463017245TGc.8145C>T (p.Cys2715=)
c.3511C>T
c.2544C>T (p.Cys848=)
c.357C>T (p.Cys119=)
n.231C>T
c.4800C>T
c.7953C>T (p.Cys2651=)
c.8082C>T (p.Cys2694=)
c.8079C>T (p.Cys2693=)
c.8010C>T (p.Cys2670=)
c.7974C>T (p.Cys2658=)
c.7926C>T (p.Cys2642=)
c.7884C>T (p.Cys2628=)
 gnomAD v4
8g.133133618T>ACA372253555TGc.8146T>A (p.Ser2716Thr)
c.3512T>A
c.2545T>A (p.Ser849Thr)
c.358T>A (p.Ser120Thr)
n.232T>A
c.4801T>A
c.7954T>A (p.Ser2652Thr)
c.8083T>A (p.Ser2695Thr)
c.8080T>A (p.Ser2694Thr)
c.8011T>A (p.Ser2671Thr)
c.7975T>A (p.Ser2659Thr)
c.7927T>A (p.Ser2643Thr)
c.7885T>A (p.Ser2629Thr)
8g.133133618T>CCA372253557TGc.8146T>C (p.Ser2716Pro)
c.3512T>C
c.2545T>C (p.Ser849Pro)
c.358T>C (p.Ser120Pro)
n.232T>C
c.4801T>C
c.7954T>C (p.Ser2652Pro)
c.8083T>C (p.Ser2695Pro)
c.8080T>C (p.Ser2694Pro)
c.8011T>C (p.Ser2671Pro)
c.7975T>C (p.Ser2659Pro)
c.7927T>C (p.Ser2643Pro)
c.7885T>C (p.Ser2629Pro)
8g.133133618T>GCA372253559TGc.8146T>G (p.Ser2716Ala)
c.3512T>G
c.2545T>G (p.Ser849Ala)
c.358T>G (p.Ser120Ala)
n.232T>G
c.4801T>G
c.7954T>G (p.Ser2652Ala)
c.8083T>G (p.Ser2695Ala)
c.8080T>G (p.Ser2694Ala)
c.8011T>G (p.Ser2671Ala)
c.7975T>G (p.Ser2659Ala)
c.7927T>G (p.Ser2643Ala)
c.7885T>G (p.Ser2629Ala)
8g.133133619C>ACA372253563TGc.8147C>A (p.Ser2716Tyr)
c.3513C>A
c.2546C>A (p.Ser849Tyr)
c.359C>A (p.Ser120Tyr)
n.233C>A
c.4802C>A
c.7955C>A (p.Ser2652Tyr)
c.8084C>A (p.Ser2695Tyr)
c.8081C>A (p.Ser2694Tyr)
c.8012C>A (p.Ser2671Tyr)
c.7976C>A (p.Ser2659Tyr)
c.7928C>A (p.Ser2643Tyr)
c.7886C>A (p.Ser2629Tyr)
8g.133133619C=CA1821104958TGc.8147C= (p.Ser2716=)
c.3513C=
c.2546C= (p.Ser849=)
c.359C= (p.Ser120=)
n.233C=
c.4802C=
c.7955C= (p.Ser2652=)
c.8084C= (p.Ser2695=)
c.8081C= (p.Ser2694=)
c.8012C= (p.Ser2671=)
c.7976C= (p.Ser2659=)
c.7928C= (p.Ser2643=)
c.7886C= (p.Ser2629=)
8g.133133619C>GCA372253562TGc.8147C>G (p.Ser2716Cys)
c.3513C>G
c.2546C>G (p.Ser849Cys)
c.359C>G (p.Ser120Cys)
n.233C>G
c.4802C>G
c.7955C>G (p.Ser2652Cys)
c.8084C>G (p.Ser2695Cys)
c.8081C>G (p.Ser2694Cys)
c.8012C>G (p.Ser2671Cys)
c.7976C>G (p.Ser2659Cys)
c.7928C>G (p.Ser2643Cys)
c.7886C>G (p.Ser2629Cys)
8g.133133619C>TCA4885905TGc.8147C>T (p.Ser2716Phe)
c.3513C>T
c.2546C>T (p.Ser849Phe)
c.359C>T (p.Ser120Phe)
n.233C>T
c.4802C>T
c.7955C>T (p.Ser2652Phe)
c.8084C>T (p.Ser2695Phe)
c.8081C>T (p.Ser2694Phe)
c.8012C>T (p.Ser2671Phe)
c.7976C>T (p.Ser2659Phe)
c.7928C>T (p.Ser2643Phe)
c.7886C>T (p.Ser2629Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133133620C>ACA463017247TGc.8148C>A (p.Ser2716=)
c.3514C>A
c.2547C>A (p.Ser849=)
c.360C>A (p.Ser120=)
n.234C>A
c.4803C>A
c.7956C>A (p.Ser2652=)
c.8085C>A (p.Ser2695=)
c.8082C>A (p.Ser2694=)
c.8013C>A (p.Ser2671=)
c.7977C>A (p.Ser2659=)
c.7929C>A (p.Ser2643=)
c.7887C>A (p.Ser2629=)
 COSMIC
8g.133133620C=CA1821104959TGc.8148C= (p.Ser2716=)
c.3514C=
c.2547C= (p.Ser849=)
c.360C= (p.Ser120=)
n.234C=
c.4803C=
c.7956C= (p.Ser2652=)
c.8085C= (p.Ser2695=)
c.8082C= (p.Ser2694=)
c.8013C= (p.Ser2671=)
c.7977C= (p.Ser2659=)
c.7929C= (p.Ser2643=)
c.7887C= (p.Ser2629=)
8g.133133620C>GCA463017248TGc.8148C>G (p.Ser2716=)
c.3514C>G
c.2547C>G (p.Ser849=)
c.360C>G (p.Ser120=)
n.234C>G
c.4803C>G
c.7956C>G (p.Ser2652=)
c.8085C>G (p.Ser2695=)
c.8082C>G (p.Ser2694=)
c.8013C>G (p.Ser2671=)
c.7977C>G (p.Ser2659=)
c.7929C>G (p.Ser2643=)
c.7887C>G (p.Ser2629=)
8g.133133620C>TCA463017249TGc.8148C>T (p.Ser2716=)
c.3514C>T
c.2547C>T (p.Ser849=)
c.360C>T (p.Ser120=)
n.234C>T
c.4803C>T
c.7956C>T (p.Ser2652=)
c.8085C>T (p.Ser2695=)
c.8082C>T (p.Ser2694=)
c.8013C>T (p.Ser2671=)
c.7977C>T (p.Ser2659=)
c.7929C>T (p.Ser2643=)
c.7887C>T (p.Ser2629=)
 dbSNP COSMIC
8g.133133621T>ACA372253565TGc.8149T>A (p.Phe2717Ile)
c.3515T>A
c.2548T>A (p.Phe850Ile)
c.361T>A (p.Phe121Ile)
n.235T>A
c.4804T>A
c.7957T>A (p.Phe2653Ile)
c.8086T>A (p.Phe2696Ile)
c.8083T>A (p.Phe2695Ile)
c.8014T>A (p.Phe2672Ile)
c.7978T>A (p.Phe2660Ile)
c.7930T>A (p.Phe2644Ile)
c.7888T>A (p.Phe2630Ile)
8g.133133621T>CCA372253567TGc.8149T>C (p.Phe2717Leu)
c.3515T>C
c.2548T>C (p.Phe850Leu)
c.361T>C (p.Phe121Leu)
n.235T>C
c.4804T>C
c.7957T>C (p.Phe2653Leu)
c.8086T>C (p.Phe2696Leu)
c.8083T>C (p.Phe2695Leu)
c.8014T>C (p.Phe2672Leu)
c.7978T>C (p.Phe2660Leu)
c.7930T>C (p.Phe2644Leu)
c.7888T>C (p.Phe2630Leu)
8g.133133621T>GCA372253568TGc.8149T>G (p.Phe2717Val)
c.3515T>G
c.2548T>G (p.Phe850Val)
c.361T>G (p.Phe121Val)
n.235T>G
c.4804T>G
c.7957T>G (p.Phe2653Val)
c.8086T>G (p.Phe2696Val)
c.8083T>G (p.Phe2695Val)
c.8014T>G (p.Phe2672Val)
c.7978T>G (p.Phe2660Val)
c.7930T>G (p.Phe2644Val)
c.7888T>G (p.Phe2630Val)
8g.133133622T>ACA372253570TGc.8150T>A (p.Phe2717Tyr)
c.3516T>A
c.2549T>A (p.Phe850Tyr)
c.362T>A (p.Phe121Tyr)
n.236T>A
c.4805T>A
c.7958T>A (p.Phe2653Tyr)
c.8087T>A (p.Phe2696Tyr)
c.8084T>A (p.Phe2695Tyr)
c.8015T>A (p.Phe2672Tyr)
c.7979T>A (p.Phe2660Tyr)
c.7931T>A (p.Phe2644Tyr)
c.7889T>A (p.Phe2630Tyr)
8g.133133622T>CCA186356886TGc.8150T>C (p.Phe2717Ser)
c.3516T>C
c.2549T>C (p.Phe850Ser)
c.362T>C (p.Phe121Ser)
n.236T>C
c.4805T>C
c.7958T>C (p.Phe2653Ser)
c.8087T>C (p.Phe2696Ser)
c.8084T>C (p.Phe2695Ser)
c.8015T>C (p.Phe2672Ser)
c.7979T>C (p.Phe2660Ser)
c.7931T>C (p.Phe2644Ser)
c.7889T>C (p.Phe2630Ser)
 dbSNP gnomAD v4
8g.133133622T>GCA372253571TGc.8150T>G (p.Phe2717Cys)
c.3516T>G
c.2549T>G (p.Phe850Cys)
c.362T>G (p.Phe121Cys)
n.236T>G
c.4805T>G
c.7958T>G (p.Phe2653Cys)
c.8087T>G (p.Phe2696Cys)
c.8084T>G (p.Phe2695Cys)
c.8015T>G (p.Phe2672Cys)
c.7979T>G (p.Phe2660Cys)
c.7931T>G (p.Phe2644Cys)
c.7889T>G (p.Phe2630Cys)
8g.133133622T=CA1821104960TGc.8150T= (p.Phe2717=)
c.3516T=
c.2549T= (p.Phe850=)
c.362T= (p.Phe121=)
n.236T=
c.4805T=
c.7958T= (p.Phe2653=)
c.8087T= (p.Phe2696=)
c.8084T= (p.Phe2695=)
c.8015T= (p.Phe2672=)
c.7979T= (p.Phe2660=)
c.7931T= (p.Phe2644=)
c.7889T= (p.Phe2630=)
8g.133133623C>ACA372253572TGc.8151C>A (p.Phe2717Leu)
c.3517C>A
c.2550C>A (p.Phe850Leu)
c.363C>A (p.Phe121Leu)
n.237C>A
c.4806C>A
c.7959C>A (p.Phe2653Leu)
c.8088C>A (p.Phe2696Leu)
c.8085C>A (p.Phe2695Leu)
c.8016C>A (p.Phe2672Leu)
c.7980C>A (p.Phe2660Leu)
c.7932C>A (p.Phe2644Leu)
c.7890C>A (p.Phe2630Leu)
8g.133133623C=CA1821104961TGc.8151C= (p.Phe2717=)
c.3517C=
c.2550C= (p.Phe850=)
c.363C= (p.Phe121=)
n.237C=
c.4806C=
c.7959C= (p.Phe2653=)
c.8088C= (p.Phe2696=)
c.8085C= (p.Phe2695=)
c.8016C= (p.Phe2672=)
c.7980C= (p.Phe2660=)
c.7932C= (p.Phe2644=)
c.7890C= (p.Phe2630=)
8g.133133623C>GCA372253573TGc.8151C>G (p.Phe2717Leu)
c.3517C>G
c.2550C>G (p.Phe850Leu)
c.363C>G (p.Phe121Leu)
n.237C>G
c.4806C>G
c.7959C>G (p.Phe2653Leu)
c.8088C>G (p.Phe2696Leu)
c.8085C>G (p.Phe2695Leu)
c.8016C>G (p.Phe2672Leu)
c.7980C>G (p.Phe2660Leu)
c.7932C>G (p.Phe2644Leu)
c.7890C>G (p.Phe2630Leu)
 gnomAD v4
8g.133133623C>TCA463017252TGc.8151C>T (p.Phe2717=)
c.3517C>T
c.2550C>T (p.Phe850=)
c.363C>T (p.Phe121=)
n.237C>T
c.4806C>T
c.7959C>T (p.Phe2653=)
c.8088C>T (p.Phe2696=)
c.8085C>T (p.Phe2695=)
c.8016C>T (p.Phe2672=)
c.7980C>T (p.Phe2660=)
c.7932C>T (p.Phe2644=)
c.7890C>T (p.Phe2630=)
 dbSNP

Number of alleles fetched