Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99622701G>ACA440332881MTTPc.2538G>A (p.Arg846=)
c.2289G>A (p.Arg763=)
c.2619G>A (p.Arg873=)
c.*985G>A (n.*985G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99622701G>CCA3022401MTTPc.2538G>C (p.Arg846Ser)
c.2289G>C (p.Arg763Ser)
c.2619G>C (p.Arg873Ser)
c.*985G>C (n.*985G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622701G=CA1480087950MTTPc.2538G= (p.Arg846=)
c.2289G= (p.Arg763=)
c.2619G= (p.Arg873=)
c.*985G= (n.*985G=)
4g.99622701G>TCA357520211MTTPc.2538G>T (p.Arg846Ser)
c.2289G>T (p.Arg763Ser)
c.2619G>T (p.Arg873Ser)
c.*985G>T (n.*985G>T)
 dbSNP gnomAD v4
4g.99622702C>ACA357520213MTTPc.2539C>A (p.Leu847Met)
c.2290C>A (p.Leu764Met)
c.2620C>A (p.Leu874Met)
c.*986C>A (n.*986C>A)
4g.99622702C>GCA357520214MTTPc.2539C>G (p.Leu847Val)
c.2290C>G (p.Leu764Val)
c.2620C>G (p.Leu874Val)
c.*986C>G (n.*986C>G)
4g.99622702C>TCA440332886MTTPc.2539C>T (p.Leu847=)
c.2290C>T (p.Leu764=)
c.2620C>T (p.Leu874=)
c.*986C>T (n.*986C>T)
4g.99622703T>ACA357520219MTTPc.2540T>A (p.Leu847Gln)
c.2291T>A (p.Leu764Gln)
c.2621T>A (p.Leu874Gln)
c.*987T>A (n.*987T>A)
4g.99622703T>CCA357520218MTTPc.2540T>C (p.Leu847Pro)
c.2291T>C (p.Leu764Pro)
c.2621T>C (p.Leu874Pro)
c.*987T>C (n.*987T>C)
4g.99622703T>GCA357520216MTTPc.2540T>G (p.Leu847Arg)
c.2291T>G (p.Leu764Arg)
c.2621T>G (p.Leu874Arg)
c.*987T>G (n.*987T>G)
4g.99622704G>ACA440332891MTTPc.2541G>A (p.Leu847=)
c.2292G>A (p.Leu764=)
c.2622G>A (p.Leu874=)
c.*988G>A (n.*988G>A)
 ClinVar dbSNP gnomAD v4
4g.99622704G>CCA440332893MTTPc.2541G>C (p.Leu847=)
c.2292G>C (p.Leu764=)
c.2622G>C (p.Leu874=)
c.*988G>C (n.*988G>C)
4g.99622704G>TCA440332894MTTPc.2541G>T (p.Leu847=)
c.2292G>T (p.Leu764=)
c.2622G>T (p.Leu874=)
c.*988G>T (n.*988G>T)
4g.99622705T>ACA357520222MTTPc.2542T>A (p.Ser848Thr)
c.2293T>A (p.Ser765Thr)
c.2623T>A (p.Ser875Thr)
c.*989T>A (n.*989T>A)
4g.99622705T>CCA357520224MTTPc.2542T>C (p.Ser848Pro)
c.2293T>C (p.Ser765Pro)
c.2623T>C (p.Ser875Pro)
c.*989T>C (n.*989T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.99622705T>GCA357520223MTTPc.2542T>G (p.Ser848Ala)
c.2293T>G (p.Ser765Ala)
c.2623T>G (p.Ser875Ala)
c.*989T>G (n.*989T>G)
4g.99622705T=CA1480087951MTTPc.2542T= (p.Ser848=)
c.2293T= (p.Ser765=)
c.2623T= (p.Ser875=)
c.*989T= (n.*989T=)
4g.99622706C>ACA357520226MTTPc.2543C>A (p.Ser848Tyr)
c.2294C>A (p.Ser765Tyr)
c.2624C>A (p.Ser875Tyr)
c.*990C>A (n.*990C>A)
4g.99622706C>GCA357520229MTTPc.2543C>G (p.Ser848Cys)
c.2294C>G (p.Ser765Cys)
c.2624C>G (p.Ser875Cys)
c.*990C>G (n.*990C>G)
4g.99622706C>TCA357520228MTTPc.2543C>T (p.Ser848Phe)
c.2294C>T (p.Ser765Phe)
c.2624C>T (p.Ser875Phe)
c.*990C>T (n.*990C>T)
4g.99622707C>ACA440332905MTTPc.2544C>A (p.Ser848=)
c.2295C>A (p.Ser765=)
c.2625C>A (p.Ser875=)
c.*991C>A (n.*991C>A)
4g.99622707C>GCA440332908MTTPc.2544C>G (p.Ser848=)
c.2295C>G (p.Ser765=)
c.2625C>G (p.Ser875=)
c.*991C>G (n.*991C>G)
4g.99622707C>TCA440332907MTTPc.2544C>T (p.Ser848=)
c.2295C>T (p.Ser765=)
c.2625C>T (p.Ser875=)
c.*991C>T (n.*991C>T)
4g.99622708A>CCA357520231MTTPc.2545A>C (p.Thr849Pro)
c.2296A>C (p.Thr766Pro)
c.2626A>C (p.Thr876Pro)
c.*992A>C (n.*992A>C)
4g.99622708A>GCA357520234MTTPc.2545A>G (p.Thr849Ala)
c.2296A>G (p.Thr766Ala)
c.2626A>G (p.Thr876Ala)
c.*992A>G (n.*992A>G)
4g.99622708A>TCA357520232MTTPc.2545A>T (p.Thr849Ser)
c.2296A>T (p.Thr766Ser)
c.2626A>T (p.Thr876Ser)
c.*992A>T (n.*992A>T)
4g.99622709C>ACA357520236MTTPc.2546C>A (p.Thr849Lys)
c.2297C>A (p.Thr766Lys)
c.2627C>A (p.Thr876Lys)
c.*993C>A (n.*993C>A)
4g.99622709C=CA1480087952MTTPc.2546C= (p.Thr849=)
c.2297C= (p.Thr766=)
c.2627C= (p.Thr876=)
c.*993C= (n.*993C=)
4g.99622709C>GCA357520238MTTPc.2546C>G (p.Thr849Arg)
c.2297C>G (p.Thr766Arg)
c.2627C>G (p.Thr876Arg)
c.*993C>G (n.*993C>G)
 dbSNP gnomAD v2
4g.99622709C>TCA357520239MTTPc.2546C>T (p.Thr849Ile)
c.2297C>T (p.Thr766Ile)
c.2627C>T (p.Thr876Ile)
c.*993C>T (n.*993C>T)
 gnomAD v4
4g.99622710A>CCA440332918MTTPc.2547A>C (p.Thr849=)
c.2298A>C (p.Thr766=)
c.2628A>C (p.Thr876=)
c.*994A>C (n.*994A>C)
4g.99622710A>GCA440332920MTTPc.2547A>G (p.Thr849=)
c.2298A>G (p.Thr766=)
c.2628A>G (p.Thr876=)
c.*994A>G (n.*994A>G)
4g.99622710A>TCA440332922MTTPc.2547A>T (p.Thr849=)
c.2298A>T (p.Thr766=)
c.2628A>T (p.Thr876=)
c.*994A>T (n.*994A>T)
4g.99622711G>ACA357520240MTTPc.2548G>A (p.Gly850Ser)
c.2299G>A (p.Gly767Ser)
c.2629G>A (p.Gly877Ser)
c.*995G>A (n.*995G>A)
 gnomAD v4
4g.99622711G>CCA357520242MTTPc.2548G>C (p.Gly850Arg)
c.2299G>C (p.Gly767Arg)
c.2629G>C (p.Gly877Arg)
c.*995G>C (n.*995G>C)
4g.99622711G>TCA357520243MTTPc.2548G>T (p.Gly850Cys)
c.2299G>T (p.Gly767Cys)
c.2629G>T (p.Gly877Cys)
c.*995G>T (n.*995G>T)
4g.99622712G>ACA357520245MTTPc.2549G>A (p.Gly850Asp)
c.2300G>A (p.Gly767Asp)
c.2630G>A (p.Gly877Asp)
c.*996G>A (n.*996G>A)
 gnomAD v4
4g.99622712G>CCA357520247MTTPc.2549G>C (p.Gly850Ala)
c.2300G>C (p.Gly767Ala)
c.2630G>C (p.Gly877Ala)
c.*996G>C (n.*996G>C)
4g.99622712G>TCA357520248MTTPc.2549G>T (p.Gly850Val)
c.2300G>T (p.Gly767Val)
c.2630G>T (p.Gly877Val)
c.*996G>T (n.*996G>T)
4g.99622713C>ACA440332930MTTPc.2550C>A (p.Gly850=)
c.2301C>A (p.Gly767=)
c.2631C>A (p.Gly877=)
c.*997C>A (n.*997C>A)
4g.99622713C=CA1480087953MTTPc.2550C= (p.Gly850=)
c.2301C= (p.Gly767=)
c.2631C= (p.Gly877=)
c.*997C= (n.*997C=)
4g.99622713C>GCA440332932MTTPc.2550C>G (p.Gly850=)
c.2301C>G (p.Gly767=)
c.2631C>G (p.Gly877=)
c.*997C>G (n.*997C>G)
 ClinVar dbSNP
4g.99622713C>TCA440332934MTTPc.2550C>T (p.Gly850=)
c.2301C>T (p.Gly767=)
c.2631C>T (p.Gly877=)
c.*997C>T (n.*997C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99622714A=CA1480087954MTTPc.2551A= (p.Arg851=)
c.2302A= (p.Arg768=)
c.2632A= (p.Arg878=)
c.*998A= (n.*998A=)
4g.99622714A>CCA440332936MTTPc.2551A>C (p.Arg851=)
c.2302A>C (p.Arg768=)
c.2632A>C (p.Arg878=)
c.*998A>C (n.*998A>C)
4g.99622714A>GCA357520249MTTPc.2551A>G (p.Arg851Gly)
c.2302A>G (p.Arg768Gly)
c.2632A>G (p.Arg878Gly)
c.*998A>G (n.*998A>G)
4g.99622714A>TCA357520251MTTPc.2551A>T (p.Arg851Ter)
c.2302A>T (p.Arg768Ter)
c.2632A>T (p.Arg878Ter)
c.*998A>T (n.*998A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99622715G>ACA357520256MTTPc.2552G>A (p.Arg851Lys)
c.2303G>A (p.Arg768Lys)
c.2633G>A (p.Arg878Lys)
c.*999G>A (n.*999G>A)
 gnomAD v4
4g.99622715G>CCA357520255MTTPc.2552G>C (p.Arg851Thr)
c.2303G>C (p.Arg768Thr)
c.2633G>C (p.Arg878Thr)
c.*999G>C (n.*999G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99622715G=CA1480087955MTTPc.2552G= (p.Arg851=)
c.2303G= (p.Arg768=)
c.2633G= (p.Arg878=)
c.*999G= (n.*999G=)
4g.99622715G>TCA357520253MTTPc.2552G>T (p.Arg851Ile)
c.2303G>T (p.Arg768Ile)
c.2633G>T (p.Arg878Ile)
c.*999G>T (n.*999G>T)
4g.99622716A=CA1480087956MTTPc.2553A= (p.Arg851=)
c.2304A= (p.Arg768=)
c.2634A= (p.Arg878=)
c.*1000A= (n.*1000A=)
4g.99622716A>CCA357520257MTTPc.2553A>C (p.Arg851Ser)
c.2304A>C (p.Arg768Ser)
c.2634A>C (p.Arg878Ser)
c.*1000A>C (n.*1000A>C)
 dbSNP gnomAD v4
4g.99622716A>GCA440332943MTTPc.2553A>G (p.Arg851=)
c.2304A>G (p.Arg768=)
c.2634A>G (p.Arg878=)
c.*1000A>G (n.*1000A>G)
4g.99622716A>TCA357520259MTTPc.2553A>T (p.Arg851Ser)
c.2304A>T (p.Arg768Ser)
c.2634A>T (p.Arg878Ser)
c.*1000A>T (n.*1000A>T)
4g.99622717G>ACA357520261MTTPc.2554G>A (p.Gly852Ser)
c.2305G>A (p.Gly769Ser)
c.2635G>A (p.Gly879Ser)
c.*1001G>A (n.*1001G>A)
4g.99622717G>CCA357520262MTTPc.2554G>C (p.Gly852Arg)
c.2305G>C (p.Gly769Arg)
c.2635G>C (p.Gly879Arg)
c.*1001G>C (n.*1001G>C)
4g.99622717G>TCA357520263MTTPc.2554G>T (p.Gly852Cys)
c.2305G>T (p.Gly769Cys)
c.2635G>T (p.Gly879Cys)
c.*1001G>T (n.*1001G>T)
4g.99622717_99622723dupCA553568509MTTPc.2554_2560dup (p.Val854GlyfsTer16)
c.2305_2311dup (p.Val771GlyfsTer16)
c.2635_2641dup (p.Val881GlyfsTer16)
c.*1001_*1007dup (n.*1001_*1007dup)
 dbSNP gnomAD v2 gnomAD v4
4g.99622718G>ACA357520265MTTPc.2555G>A (p.Gly852Asp)
c.2306G>A (p.Gly769Asp)
c.2636G>A (p.Gly879Asp)
c.*1002G>A (n.*1002G>A)
 gnomAD v4
4g.99622718G>CCA357520266MTTPc.2555G>C (p.Gly852Ala)
c.2306G>C (p.Gly769Ala)
c.2636G>C (p.Gly879Ala)
c.*1002G>C (n.*1002G>C)
4g.99622718G>TCA357520268MTTPc.2555G>T (p.Gly852Val)
c.2306G>T (p.Gly769Val)
c.2636G>T (p.Gly879Val)
c.*1002G>T (n.*1002G>T)
4g.99622719T>ACA440332954MTTPc.2556T>A (p.Gly852=)
c.2307T>A (p.Gly769=)
c.2637T>A (p.Gly879=)
c.*1003T>A (n.*1003T>A)
4g.99622719T>CCA440332959MTTPc.2556T>C (p.Gly852=)
c.2307T>C (p.Gly769=)
c.2637T>C (p.Gly879=)
c.*1003T>C (n.*1003T>C)
4g.99622719T>GCA440332956MTTPc.2556T>G (p.Gly852=)
c.2307T>G (p.Gly769=)
c.2637T>G (p.Gly879=)
c.*1003T>G (n.*1003T>G)
4g.99622720T>ACA357520270MTTPc.2557T>A (p.Tyr853Asn)
c.2308T>A (p.Tyr770Asn)
c.2638T>A (p.Tyr880Asn)
c.*1004T>A (n.*1004T>A)
4g.99622720T>CCA357520271MTTPc.2557T>C (p.Tyr853His)
c.2308T>C (p.Tyr770His)
c.2638T>C (p.Tyr880His)
c.*1004T>C (n.*1004T>C)
4g.99622720T>GCA357520272MTTPc.2557T>G (p.Tyr853Asp)
c.2308T>G (p.Tyr770Asp)
c.2638T>G (p.Tyr880Asp)
c.*1004T>G (n.*1004T>G)
4g.99622721A>CCA357520277MTTPc.2558A>C (p.Tyr853Ser)
c.2309A>C (p.Tyr770Ser)
c.2639A>C (p.Tyr880Ser)
c.*1005A>C (n.*1005A>C)
4g.99622721A>GCA357520276MTTPc.2558A>G (p.Tyr853Cys)
c.2309A>G (p.Tyr770Cys)
c.2639A>G (p.Tyr880Cys)
c.*1005A>G (n.*1005A>G)
4g.99622721A>TCA357520275MTTPc.2558A>T (p.Tyr853Phe)
c.2309A>T (p.Tyr770Phe)
c.2639A>T (p.Tyr880Phe)
c.*1005A>T (n.*1005A>T)
4g.99622722T>ACA357520278MTTPc.2559T>A (p.Tyr853Ter)
c.2310T>A (p.Tyr770Ter)
c.2640T>A (p.Tyr880Ter)
c.*1006T>A (n.*1006T>A)
4g.99622722T>CCA440332970MTTPc.2559T>C (p.Tyr853=)
c.2310T>C (p.Tyr770=)
c.2640T>C (p.Tyr880=)
c.*1006T>C (n.*1006T>C)
4g.99622722T>GCA357520280MTTPc.2559T>G (p.Tyr853Ter)
c.2310T>G (p.Tyr770Ter)
c.2640T>G (p.Tyr880Ter)
c.*1006T>G (n.*1006T>G)
4g.99622723G>ACA3022402MTTPc.2560G>A (p.Val854Ile)
c.2311G>A (p.Val771Ile)
c.2641G>A (p.Val881Ile)
c.*1007G>A (n.*1007G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.99622723G>CCA357520283MTTPc.2560G>C (p.Val854Leu)
c.2311G>C (p.Val771Leu)
c.2641G>C (p.Val881Leu)
c.*1007G>C (n.*1007G>C)
4g.99622723G=CA1480087957MTTPc.2560G= (p.Val854=)
c.2311G= (p.Val771=)
c.2641G= (p.Val881=)
c.*1007G= (n.*1007G=)
4g.99622723G>TCA357520284MTTPc.2560G>T (p.Val854Phe)
c.2311G>T (p.Val771Phe)
c.2641G>T (p.Val881Phe)
c.*1007G>T (n.*1007G>T)
4g.99622724T>ACA357520286MTTPc.2561T>A (p.Val854Asp)
c.2312T>A (p.Val771Asp)
c.2642T>A (p.Val881Asp)
c.*1008T>A (n.*1008T>A)
4g.99622724T>CCA3022403MTTPc.2561T>C (p.Val854Ala)
c.2312T>C (p.Val771Ala)
c.2642T>C (p.Val881Ala)
c.*1008T>C (n.*1008T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622724T>GCA357520288MTTPc.2561T>G (p.Val854Gly)
c.2312T>G (p.Val771Gly)
c.2642T>G (p.Val881Gly)
c.*1008T>G (n.*1008T>G)
4g.99622724T=CA1480087958MTTPc.2561T= (p.Val854=)
c.2312T= (p.Val771=)
c.2642T= (p.Val881=)
c.*1008T= (n.*1008T=)
4g.99622725C>ACA440332982MTTPc.2562C>A (p.Val854=)
c.2313C>A (p.Val771=)
c.2643C>A (p.Val881=)
c.*1009C>A (n.*1009C>A)
4g.99622725C>GCA440332985MTTPc.2562C>G (p.Val854=)
c.2313C>G (p.Val771=)
c.2643C>G (p.Val881=)
c.*1009C>G (n.*1009C>G)
4g.99622725C>TCA440332986MTTPc.2562C>T (p.Val854=)
c.2313C>T (p.Val771=)
c.2643C>T (p.Val881=)
c.*1009C>T (n.*1009C>T)
4g.99622726T>ACA357520290MTTPc.2563T>A (p.Ser855Thr)
c.2314T>A (p.Ser772Thr)
c.2644T>A (p.Ser882Thr)
c.*1010T>A (n.*1010T>A)
4g.99622726T>CCA357520291MTTPc.2563T>C (p.Ser855Pro)
c.2314T>C (p.Ser772Pro)
c.2644T>C (p.Ser882Pro)
c.*1010T>C (n.*1010T>C)
4g.99622726T>GCA357520293MTTPc.2563T>G (p.Ser855Ala)
c.2314T>G (p.Ser772Ala)
c.2644T>G (p.Ser882Ala)
c.*1010T>G (n.*1010T>G)
4g.99622727C>ACA357520298MTTPc.2564C>A (p.Ser855Tyr)
c.2315C>A (p.Ser772Tyr)
c.2645C>A (p.Ser882Tyr)
c.*1011C>A (n.*1011C>A)
4g.99622727C>GCA357520297MTTPc.2564C>G (p.Ser855Cys)
c.2315C>G (p.Ser772Cys)
c.2645C>G (p.Ser882Cys)
c.*1011C>G (n.*1011C>G)
4g.99622727C>TCA357520295MTTPc.2564C>T (p.Ser855Phe)
c.2315C>T (p.Ser772Phe)
c.2645C>T (p.Ser882Phe)
c.*1011C>T (n.*1011C>T)
4g.99622728T>ACA440332992MTTPc.2565T>A (p.Ser855=)
c.2316T>A (p.Ser772=)
c.2646T>A (p.Ser882=)
c.*1012T>A (n.*1012T>A)
4g.99622728T>CCA440332995MTTPc.2565T>C (p.Ser855=)
c.2316T>C (p.Ser772=)
c.2646T>C (p.Ser882=)
c.*1012T>C (n.*1012T>C)
4g.99622728T>GCA440332998MTTPc.2565T>G (p.Ser855=)
c.2316T>G (p.Ser772=)
c.2646T>G (p.Ser882=)
c.*1012T>G (n.*1012T>G)
4g.99622729C>ACA357520299MTTPc.2566C>A (p.Gln856Lys)
c.2317C>A (p.Gln773Lys)
c.2647C>A (p.Gln883Lys)
c.*1013C>A (n.*1013C>A)
4g.99622729C>GCA357520301MTTPc.2566C>G (p.Gln856Glu)
c.2317C>G (p.Gln773Glu)
c.2647C>G (p.Gln883Glu)
c.*1013C>G (n.*1013C>G)
4g.99622729C>TCA357520303MTTPc.2566C>T (p.Gln856Ter)
c.2317C>T (p.Gln773Ter)
c.2647C>T (p.Gln883Ter)
c.*1013C>T (n.*1013C>T)
4g.99622730A>CCA357520305MTTPc.2567A>C (p.Gln856Pro)
c.2318A>C (p.Gln773Pro)
c.2648A>C (p.Gln883Pro)
c.*1014A>C (n.*1014A>C)
4g.99622730A>GCA357520306MTTPc.2567A>G (p.Gln856Arg)
c.2318A>G (p.Gln773Arg)
c.2648A>G (p.Gln883Arg)
c.*1014A>G (n.*1014A>G)
4g.99622730A>TCA357520307MTTPc.2567A>T (p.Gln856Leu)
c.2318A>T (p.Gln773Leu)
c.2648A>T (p.Gln883Leu)
c.*1014A>T (n.*1014A>T)
4g.99622731G>ACA3022404MTTPc.2568G>A (p.Gln856=)
c.2319G>A (p.Gln773=)
c.2649G>A (p.Gln883=)
c.*1015G>A (n.*1015G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622731G>CCA357520310MTTPc.2568G>C (p.Gln856His)
c.2319G>C (p.Gln773His)
c.2649G>C (p.Gln883His)
c.*1015G>C (n.*1015G>C)
4g.99622731G=CA1480087959MTTPc.2568G= (p.Gln856=)
c.2319G= (p.Gln773=)
c.2649G= (p.Gln883=)
c.*1015G= (n.*1015G=)
4g.99622731G>TCA357520312MTTPc.2568G>T (p.Gln856His)
c.2319G>T (p.Gln773His)
c.2649G>T (p.Gln883His)
c.*1015G>T (n.*1015G>T)
4g.99622732A=CA1480087960MTTPc.2569A= (p.Lys857=)
c.2320A= (p.Lys774=)
c.2650A= (p.Lys884=)
c.*1016A= (n.*1016A=)
4g.99622732A>CCA3022406MTTPc.2569A>C (p.Lys857Gln)
c.2320A>C (p.Lys774Gln)
c.2650A>C (p.Lys884Gln)
c.*1016A>C (n.*1016A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622732A>GCA3022405MTTPc.2569A>G (p.Lys857Glu)
c.2320A>G (p.Lys774Glu)
c.2650A>G (p.Lys884Glu)
c.*1016A>G (n.*1016A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622732A>TCA357520314MTTPc.2569A>T (p.Lys857Ter)
c.2320A>T (p.Lys774Ter)
c.2650A>T (p.Lys884Ter)
c.*1016A>T (n.*1016A>T)
4g.99622733A>CCA357520319MTTPc.2570A>C (p.Lys857Thr)
c.2321A>C (p.Lys774Thr)
c.2651A>C (p.Lys884Thr)
c.*1017A>C (n.*1017A>C)
4g.99622733A>GCA357520318MTTPc.2570A>G (p.Lys857Arg)
c.2321A>G (p.Lys774Arg)
c.2651A>G (p.Lys884Arg)
c.*1017A>G (n.*1017A>G)
4g.99622733A>TCA357520316MTTPc.2570A>T (p.Lys857Ile)
c.2321A>T (p.Lys774Ile)
c.2651A>T (p.Lys884Ile)
c.*1017A>T (n.*1017A>T)
4g.99622734A>CCA357520321MTTPc.2571A>C (p.Lys857Asn)
c.2322A>C (p.Lys774Asn)
c.2652A>C (p.Lys884Asn)
c.*1018A>C (n.*1018A>C)
4g.99622734A>GCA440333020MTTPc.2571A>G (p.Lys857=)
c.2322A>G (p.Lys774=)
c.2652A>G (p.Lys884=)
c.*1018A>G (n.*1018A>G)
4g.99622734A>TCA357520322MTTPc.2571A>T (p.Lys857Asn)
c.2322A>T (p.Lys774Asn)
c.2652A>T (p.Lys884Asn)
c.*1018A>T (n.*1018A>T)
4g.99622735A>CCA440333023MTTPc.2572A>C (p.Arg858=)
c.2323A>C (p.Arg775=)
c.2653A>C (p.Arg885=)
c.*1019A>C (n.*1019A>C)
 ClinVar
4g.99622735A>GCA357520324MTTPc.2572A>G (p.Arg858Gly)
c.2323A>G (p.Arg775Gly)
c.2653A>G (p.Arg885Gly)
c.*1019A>G (n.*1019A>G)
4g.99622735A>TCA357520325MTTPc.2572A>T (p.Arg858Ter)
c.2323A>T (p.Arg775Ter)
c.2653A>T (p.Arg885Ter)
c.*1019A>T (n.*1019A>T)
4g.99622736G>ACA357520327MTTPc.2573G>A (p.Arg858Lys)
c.2324G>A (p.Arg775Lys)
c.2654G>A (p.Arg885Lys)
c.*1020G>A (n.*1020G>A)
4g.99622736G>CCA357520329MTTPc.2573G>C (p.Arg858Thr)
c.2324G>C (p.Arg775Thr)
c.2654G>C (p.Arg885Thr)
c.*1020G>C (n.*1020G>C)
 dbSNP gnomAD v4
4g.99622736G=CA1480087961MTTPc.2573G= (p.Arg858=)
c.2324G= (p.Arg775=)
c.2654G= (p.Arg885=)
c.*1020G= (n.*1020G=)
4g.99622736G>TCA357520331MTTPc.2573G>T (p.Arg858Ile)
c.2324G>T (p.Arg775Ile)
c.2654G>T (p.Arg885Ile)
c.*1020G>T (n.*1020G>T)
4g.99622737A>CCA357520332MTTPc.2574A>C (p.Arg858Ser)
c.2325A>C (p.Arg775Ser)
c.2655A>C (p.Arg885Ser)
c.*1021A>C (n.*1021A>C)
4g.99622737A>GCA440333026MTTPc.2574A>G (p.Arg858=)
c.2325A>G (p.Arg775=)
c.2655A>G (p.Arg885=)
c.*1021A>G (n.*1021A>G)
4g.99622737A>TCA357520334MTTPc.2574A>T (p.Arg858Ser)
c.2325A>T (p.Arg775Ser)
c.2655A>T (p.Arg885Ser)
c.*1021A>T (n.*1021A>T)
4g.99622740delCA913103298MTTPc.2577del (p.Glu860LysfsTer4)
c.2328del (p.Glu777LysfsTer4)
c.2658del (p.Glu887LysfsTer4)
c.*1024del (n.*1024del)
4g.99622738A>CCA357520336MTTPc.2575A>C (p.Lys859Gln)
c.2326A>C (p.Lys776Gln)
c.2656A>C (p.Lys886Gln)
c.*1022A>C (n.*1022A>C)
4g.99622738A>GCA357520338MTTPc.2575A>G (p.Lys859Glu)
c.2326A>G (p.Lys776Glu)
c.2656A>G (p.Lys886Glu)
c.*1022A>G (n.*1022A>G)
4g.99622738A>TCA357520339MTTPc.2575A>T (p.Lys859Ter)
c.2326A>T (p.Lys776Ter)
c.2656A>T (p.Lys886Ter)
c.*1022A>T (n.*1022A>T)
4g.99622738_99622741delinsAAAGCA1480087962MTTPc.2575_2578delinsAAAG (p.Lys859=)
c.2326_2329delinsAAAG (p.Lys776=)
c.2656_2659delinsAAAG (p.Lys886=)
c.*1022_*1025delinsAAAG (n.*1022_*1025delinsAAAG)
4g.99622739A>CCA357520340MTTPc.2576A>C (p.Lys859Thr)
c.2327A>C (p.Lys776Thr)
c.2657A>C (p.Lys886Thr)
c.*1023A>C (n.*1023A>C)
4g.99622739A>GCA357520342MTTPc.2576A>G (p.Lys859Arg)
c.2327A>G (p.Lys776Arg)
c.2657A>G (p.Lys886Arg)
c.*1023A>G (n.*1023A>G)
 gnomAD v4
4g.99622739A>TCA357520344MTTPc.2576A>T (p.Lys859Ile)
c.2327A>T (p.Lys776Ile)
c.2657A>T (p.Lys886Ile)
c.*1023A>T (n.*1023A>T)
4g.99622741_99622743delCA553568510MTTPc.2578_2580del (p.Glu860del)
c.2329_2331del (p.Glu777del)
c.2659_2661del (p.Glu887del)
c.*1025_*1027del (n.*1025_*1027del)
 dbSNP gnomAD v2 gnomAD v4
4g.99622740A=CA1480087963MTTPc.2577A= (p.Lys859=)
c.2328A= (p.Lys776=)
c.2658A= (p.Lys886=)
c.*1024A= (n.*1024A=)
4g.99622740A>CCA357520345MTTPc.2577A>C (p.Lys859Asn)
c.2328A>C (p.Lys776Asn)
c.2658A>C (p.Lys886Asn)
c.*1024A>C (n.*1024A>C)
4g.99622740A>GCA440333031MTTPc.2577A>G (p.Lys859=)
c.2328A>G (p.Lys776=)
c.2658A>G (p.Lys886=)
c.*1024A>G (n.*1024A>G)
4g.99622740A>TCA357520346MTTPc.2577A>T (p.Lys859Asn)
c.2328A>T (p.Lys776Asn)
c.2658A>T (p.Lys886Asn)
c.*1024A>T (n.*1024A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622741G>ACA357520348MTTPc.2578G>A (p.Glu860Lys)
c.2329G>A (p.Glu777Lys)
c.2659G>A (p.Glu887Lys)
c.*1025G>A (n.*1025G>A)
4g.99622741G>CCA357520349MTTPc.2578G>C (p.Glu860Gln)
c.2329G>C (p.Glu777Gln)
c.2659G>C (p.Glu887Gln)
c.*1025G>C (n.*1025G>C)
4g.99622741G=CA1480087964MTTPc.2578G= (p.Glu860=)
c.2329G= (p.Glu777=)
c.2659G= (p.Glu887=)
c.*1025G= (n.*1025G=)
4g.99622741G>TCA357520351MTTPc.2578G>T (p.Glu860Ter)
c.2329G>T (p.Glu777Ter)
c.2659G>T (p.Glu887Ter)
c.*1025G>T (n.*1025G>T)
 ClinVar dbSNP COSMIC
4g.99622742A>CCA357520352MTTPc.2579A>C (p.Glu860Ala)
c.2330A>C (p.Glu777Ala)
c.2660A>C (p.Glu887Ala)
c.*1026A>C (n.*1026A>C)
 gnomAD v4
4g.99622742A>GCA357520354MTTPc.2579A>G (p.Glu860Gly)
c.2330A>G (p.Glu777Gly)
c.2660A>G (p.Glu887Gly)
c.*1026A>G (n.*1026A>G)
4g.99622742A>TCA357520355MTTPc.2579A>T (p.Glu860Val)
c.2330A>T (p.Glu777Val)
c.2660A>T (p.Glu887Val)
c.*1026A>T (n.*1026A>T)
4g.99622744dupCA2671535542MTTPc.2581dup (p.Ser861LysfsTer7)
c.2332dup (p.Ser778LysfsTer7)
c.2662dup (p.Ser888LysfsTer7)
c.*1028dup (n.*1028dup)
 gnomAD v4
4g.99622743A>CCA357520357MTTPc.2580A>C (p.Glu860Asp)
c.2331A>C (p.Glu777Asp)
c.2661A>C (p.Glu887Asp)
c.*1027A>C (n.*1027A>C)
4g.99622743A>GCA440333044MTTPc.2580A>G (p.Glu860=)
c.2331A>G (p.Glu777=)
c.2661A>G (p.Glu887=)
c.*1027A>G (n.*1027A>G)
4g.99622743A>TCA357520359MTTPc.2580A>T (p.Glu860Asp)
c.2331A>T (p.Glu777Asp)
c.2661A>T (p.Glu887Asp)
c.*1027A>T (n.*1027A>T)
4g.99622744A>CCA357520360MTTPc.2581A>C (p.Ser861Arg)
c.2332A>C (p.Ser778Arg)
c.2662A>C (p.Ser888Arg)
c.*1028A>C (n.*1028A>C)
4g.99622744A>GCA357520362MTTPc.2581A>G (p.Ser861Gly)
c.2332A>G (p.Ser778Gly)
c.2662A>G (p.Ser888Gly)
c.*1028A>G (n.*1028A>G)
4g.99622744A>TCA357520363MTTPc.2581A>T (p.Ser861Cys)
c.2332A>T (p.Ser778Cys)
c.2662A>T (p.Ser888Cys)
c.*1028A>T (n.*1028A>T)
4g.99622745G>ACA3022407MTTPc.2582G>A (p.Ser861Asn)
c.2333G>A (p.Ser778Asn)
c.2663G>A (p.Ser888Asn)
c.*1029G>A (n.*1029G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622745G>CCA357520370MTTPc.2582G>C (p.Ser861Thr)
c.2333G>C (p.Ser778Thr)
c.2663G>C (p.Ser888Thr)
c.*1029G>C (n.*1029G>C)
4g.99622745G=CA1480087965MTTPc.2582G= (p.Ser861=)
c.2333G= (p.Ser778=)
c.2663G= (p.Ser888=)
c.*1029G= (n.*1029G=)
4g.99622745G>TCA357520366MTTPc.2582G>T (p.Ser861Ile)
c.2333G>T (p.Ser778Ile)
c.2663G>T (p.Ser888Ile)
c.*1029G>T (n.*1029G>T)
4g.99622746C>ACA357520372MTTPc.2583C>A (p.Ser861Arg)
c.2334C>A (p.Ser778Arg)
c.2664C>A (p.Ser888Arg)
c.*1030C>A (n.*1030C>A)
 gnomAD v4
4g.99622746C=CA1480087966MTTPc.2583C= (p.Ser861=)
c.2334C= (p.Ser778=)
c.2664C= (p.Ser888=)
c.*1030C= (n.*1030C=)
4g.99622746C>GCA357520373MTTPc.2583C>G (p.Ser861Arg)
c.2334C>G (p.Ser778Arg)
c.2664C>G (p.Ser888Arg)
c.*1030C>G (n.*1030C>G)
4g.99622746C>TCA3022408MTTPc.2583C>T (p.Ser861=)
c.2334C>T (p.Ser778=)
c.2664C>T (p.Ser888=)
c.*1030C>T (n.*1030C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.99622747G>ACA3022409MTTPc.2584G>A (p.Val862Ile)
c.2335G>A (p.Val779Ile)
c.2665G>A (p.Val889Ile)
c.*1031G>A (n.*1031G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.99622747G>CCA357520376MTTPc.2584G>C (p.Val862Leu)
c.2335G>C (p.Val779Leu)
c.2665G>C (p.Val889Leu)
c.*1031G>C (n.*1031G>C)
 gnomAD v4
4g.99622747G=CA1480087967MTTPc.2584G= (p.Val862=)
c.2335G= (p.Val779=)
c.2665G= (p.Val889=)
c.*1031G= (n.*1031G=)
4g.99622747G>TCA102652360MTTPc.2584G>T (p.Val862Leu)
c.2335G>T (p.Val779Leu)
c.2665G>T (p.Val889Leu)
c.*1031G>T (n.*1031G>T)
 dbSNP
4g.99622748T>ACA357520378MTTPc.2585T>A (p.Val862Glu)
c.2336T>A (p.Val779Glu)
c.2666T>A (p.Val889Glu)
c.*1032T>A (n.*1032T>A)
4g.99622748T>CCA357520379MTTPc.2585T>C (p.Val862Ala)
c.2336T>C (p.Val779Ala)
c.2666T>C (p.Val889Ala)
c.*1032T>C (n.*1032T>C)
4g.99622748T>GCA357520381MTTPc.2585T>G (p.Val862Gly)
c.2336T>G (p.Val779Gly)
c.2666T>G (p.Val889Gly)
c.*1032T>G (n.*1032T>G)
4g.99622749_99622772delCA645520133MTTPc.2586_2609del (p.Leu863_Leu870del)
c.2337_2360del (p.Leu780_Leu787del)
c.2667_2690del (p.Leu890_Leu897del)
c.*1033_*1056del (n.*1033_*1056del)
 COSMIC
4g.99622749A>CCA440333060MTTPc.2586A>C (p.Val862=)
c.2337A>C (p.Val779=)
c.2667A>C (p.Val889=)
c.*1033A>C (n.*1033A>C)
4g.99622749A>GCA440333061MTTPc.2586A>G (p.Val862=)
c.2337A>G (p.Val779=)
c.2667A>G (p.Val889=)
c.*1033A>G (n.*1033A>G)
 ClinVar
4g.99622749A>TCA440333058MTTPc.2586A>T (p.Val862=)
c.2337A>T (p.Val779=)
c.2667A>T (p.Val889=)
c.*1033A>T (n.*1033A>T)
4g.99622750T>ACA357520382MTTPc.2587T>A (p.Leu863Ile)
c.2338T>A (p.Leu780Ile)
c.2668T>A (p.Leu890Ile)
c.*1034T>A (n.*1034T>A)
4g.99622750T>CCA440333063MTTPc.2587T>C (p.Leu863=)
c.2338T>C (p.Leu780=)
c.2668T>C (p.Leu890=)
c.*1034T>C (n.*1034T>C)
4g.99622750T>GCA357520384MTTPc.2587T>G (p.Leu863Val)
c.2338T>G (p.Leu780Val)
c.2668T>G (p.Leu890Val)
c.*1034T>G (n.*1034T>G)
4g.99622751T>ACA357520386MTTPc.2588T>A (p.Leu863Ter)
c.2339T>A (p.Leu780Ter)
c.2669T>A (p.Leu890Ter)
c.*1035T>A (n.*1035T>A)
4g.99622751T>CCA357520387MTTPc.2588T>C (p.Leu863Ser)
c.2339T>C (p.Leu780Ser)
c.2669T>C (p.Leu890Ser)
c.*1035T>C (n.*1035T>C)
4g.99622751T>GCA357520388MTTPc.2588T>G (p.Leu863Ter)
c.2339T>G (p.Leu780Ter)
c.2669T>G (p.Leu890Ter)
c.*1035T>G (n.*1035T>G)
4g.99622752A>CCA357520390MTTPc.2589A>C (p.Leu863Phe)
c.2340A>C (p.Leu780Phe)
c.2670A>C (p.Leu890Phe)
c.*1036A>C (n.*1036A>C)
4g.99622752A>GCA440333072MTTPc.2589A>G (p.Leu863=)
c.2340A>G (p.Leu780=)
c.2670A>G (p.Leu890=)
c.*1036A>G (n.*1036A>G)
4g.99622752A>TCA357520392MTTPc.2589A>T (p.Leu863Phe)
c.2340A>T (p.Leu780Phe)
c.2670A>T (p.Leu890Phe)
c.*1036A>T (n.*1036A>T)
4g.99622754_99622756delCA2762808581MTTPc.2591_2593del (p.Ala864del)
c.2342_2344del (p.Ala781del)
c.2672_2674del (p.Ala891del)
c.*1038_*1040del (n.*1038_*1040del)
4g.99622753G>ACA357520393MTTPc.2590G>A (p.Ala864Thr)
c.2341G>A (p.Ala781Thr)
c.2671G>A (p.Ala891Thr)
c.*1037G>A (n.*1037G>A)
 gnomAD v4
4g.99622753G>CCA3022410MTTPc.2590G>C (p.Ala864Pro)
c.2341G>C (p.Ala781Pro)
c.2671G>C (p.Ala891Pro)
c.*1037G>C (n.*1037G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622753G=CA1480087968MTTPc.2590G= (p.Ala864=)
c.2341G= (p.Ala781=)
c.2671G= (p.Ala891=)
c.*1037G= (n.*1037G=)
4g.99622753G>TCA357520395MTTPc.2590G>T (p.Ala864Ser)
c.2341G>T (p.Ala781Ser)
c.2671G>T (p.Ala891Ser)
c.*1037G>T (n.*1037G>T)
4g.99622754C>ACA357520397MTTPc.2591C>A (p.Ala864Glu)
c.2342C>A (p.Ala781Glu)
c.2672C>A (p.Ala891Glu)
c.*1038C>A (n.*1038C>A)
4g.99622754C=CA1480087969MTTPc.2591C= (p.Ala864=)
c.2342C= (p.Ala781=)
c.2672C= (p.Ala891=)
c.*1038C= (n.*1038C=)
4g.99622754C>GCA357520399MTTPc.2591C>G (p.Ala864Gly)
c.2342C>G (p.Ala781Gly)
c.2672C>G (p.Ala891Gly)
c.*1038C>G (n.*1038C>G)
4g.99622754C>TCA357520400MTTPc.2591C>T (p.Ala864Val)
c.2342C>T (p.Ala781Val)
c.2672C>T (p.Ala891Val)
c.*1038C>T (n.*1038C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99622755A=CA1480087970MTTPc.2592A= (p.Ala864=)
c.2343A= (p.Ala781=)
c.2673A= (p.Ala891=)
c.*1039A= (n.*1039A=)
4g.99622755A>CCA440333085MTTPc.2592A>C (p.Ala864=)
c.2343A>C (p.Ala781=)
c.2673A>C (p.Ala891=)
c.*1039A>C (n.*1039A>C)
4g.99622755A>GCA102652362MTTPc.2592A>G (p.Ala864=)
c.2343A>G (p.Ala781=)
c.2673A>G (p.Ala891=)
c.*1039A>G (n.*1039A>G)
 dbSNP
4g.99622755A>TCA440333082MTTPc.2592A>T (p.Ala864=)
c.2343A>T (p.Ala781=)
c.2673A>T (p.Ala891=)
c.*1039A>T (n.*1039A>T)
4g.99622756G>ACA357520402MTTPc.2593G>A (p.Gly865Arg)
c.2344G>A (p.Gly782Arg)
c.2674G>A (p.Gly892Arg)
c.*1040G>A (n.*1040G>A)
 COSMIC
4g.99622756G>CCA357520404MTTPc.2593G>C (p.Gly865Arg)
c.2344G>C (p.Gly782Arg)
c.2674G>C (p.Gly892Arg)
c.*1040G>C (n.*1040G>C)
4g.99622756G=CA1480087971MTTPc.2593G= (p.Gly865=)
c.2344G= (p.Gly782=)
c.2674G= (p.Gly892=)
c.*1040G= (n.*1040G=)
4g.99622756G>TCA123825MTTPc.2593G>T (p.Gly865Ter)
c.2344G>T (p.Gly782Ter)
c.2674G>T (p.Gly892Ter)
c.*1040G>T (n.*1040G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622757G>ACA357520407MTTPc.2594G>A (p.Gly865Glu)
c.2345G>A (p.Gly782Glu)
c.2675G>A (p.Gly892Glu)
c.*1041G>A (n.*1041G>A)
 gnomAD v4
4g.99622757G>CCA357520410MTTPc.2594G>C (p.Gly865Ala)
c.2345G>C (p.Gly782Ala)
c.2675G>C (p.Gly892Ala)
c.*1041G>C (n.*1041G>C)
4g.99622757G>TCA357520411MTTPc.2594G>T (p.Gly865Val)
c.2345G>T (p.Gly782Val)
c.2675G>T (p.Gly892Val)
c.*1041G>T (n.*1041G>T)
4g.99622758A>CCA440333095MTTPc.2595A>C (p.Gly865=)
c.2346A>C (p.Gly782=)
c.2676A>C (p.Gly892=)
c.*1042A>C (n.*1042A>C)
4g.99622758A>GCA440333097MTTPc.2595A>G (p.Gly865=)
c.2346A>G (p.Gly782=)
c.2676A>G (p.Gly892=)
c.*1042A>G (n.*1042A>G)
4g.99622758A>TCA440333099MTTPc.2595A>T (p.Gly865=)
c.2346A>T (p.Gly782=)
c.2676A>T (p.Gly892=)
c.*1042A>T (n.*1042A>T)
 ClinVar
4g.99622759T>ACA357520419MTTPc.2596T>A (p.Cys866Ser)
c.2347T>A (p.Cys783Ser)
c.2677T>A (p.Cys893Ser)
c.*1043T>A (n.*1043T>A)
4g.99622759T>CCA357520417MTTPc.2596T>C (p.Cys866Arg)
c.2347T>C (p.Cys783Arg)
c.2677T>C (p.Cys893Arg)
c.*1043T>C (n.*1043T>C)
4g.99622759T>GCA357520415MTTPc.2596T>G (p.Cys866Gly)
c.2347T>G (p.Cys783Gly)
c.2677T>G (p.Cys893Gly)
c.*1043T>G (n.*1043T>G)
4g.99622760G>ACA357520421MTTPc.2597G>A (p.Cys866Tyr)
c.2348G>A (p.Cys783Tyr)
c.2678G>A (p.Cys893Tyr)
c.*1044G>A (n.*1044G>A)
 gnomAD v4
4g.99622760G>CCA357520422MTTPc.2597G>C (p.Cys866Ser)
c.2348G>C (p.Cys783Ser)
c.2678G>C (p.Cys893Ser)
c.*1044G>C (n.*1044G>C)
4g.99622760G>TCA357520425MTTPc.2597G>T (p.Cys866Phe)
c.2348G>T (p.Cys783Phe)
c.2678G>T (p.Cys893Phe)
c.*1044G>T (n.*1044G>T)
4g.99622761T>ACA357520426MTTPc.2598T>A (p.Cys866Ter)
c.2349T>A (p.Cys783Ter)
c.2679T>A (p.Cys893Ter)
c.*1045T>A (n.*1045T>A)
4g.99622761T>CCA440333114MTTPc.2598T>C (p.Cys866=)
c.2349T>C (p.Cys783=)
c.2679T>C (p.Cys893=)
c.*1045T>C (n.*1045T>C)
4g.99622761T>GCA357520427MTTPc.2598T>G (p.Cys866Trp)
c.2349T>G (p.Cys783Trp)
c.2679T>G (p.Cys893Trp)
c.*1045T>G (n.*1045T>G)
4g.99622762G>ACA357520429MTTPc.2599G>A (p.Glu867Lys)
c.2350G>A (p.Glu784Lys)
c.2680G>A (p.Glu894Lys)
c.*1046G>A (n.*1046G>A)
4g.99622762G>CCA357520430MTTPc.2599G>C (p.Glu867Gln)
c.2350G>C (p.Glu784Gln)
c.2680G>C (p.Glu894Gln)
c.*1046G>C (n.*1046G>C)
 dbSNP
4g.99622762G=CA1480087972MTTPc.2599G= (p.Glu867=)
c.2350G= (p.Glu784=)
c.2680G= (p.Glu894=)
c.*1046G= (n.*1046G=)
4g.99622762G>TCA357520432MTTPc.2599G>T (p.Glu867Ter)
c.2350G>T (p.Glu784Ter)
c.2680G>T (p.Glu894Ter)
c.*1046G>T (n.*1046G>T)
4g.99622763A>CCA357520433MTTPc.2600A>C (p.Glu867Ala)
c.2351A>C (p.Glu784Ala)
c.2681A>C (p.Glu894Ala)
c.*1047A>C (n.*1047A>C)
4g.99622763A>GCA357520435MTTPc.2600A>G (p.Glu867Gly)
c.2351A>G (p.Glu784Gly)
c.2681A>G (p.Glu894Gly)
c.*1047A>G (n.*1047A>G)
4g.99622763A>TCA357520434MTTPc.2600A>T (p.Glu867Val)
c.2351A>T (p.Glu784Val)
c.2681A>T (p.Glu894Val)
c.*1047A>T (n.*1047A>T)
4g.99622764A>CCA357520437MTTPc.2601A>C (p.Glu867Asp)
c.2352A>C (p.Glu784Asp)
c.2682A>C (p.Glu894Asp)
c.*1048A>C (n.*1048A>C)
4g.99622764A>GCA440333125MTTPc.2601A>G (p.Glu867=)
c.2352A>G (p.Glu784=)
c.2682A>G (p.Glu894=)
c.*1048A>G (n.*1048A>G)
 gnomAD v4
4g.99622764A>TCA357520439MTTPc.2601A>T (p.Glu867Asp)
c.2352A>T (p.Glu784Asp)
c.2682A>T (p.Glu894Asp)
c.*1048A>T (n.*1048A>T)
4g.99622765T>ACA357520441MTTPc.2602T>A (p.Phe868Ile)
c.2353T>A (p.Phe785Ile)
c.2683T>A (p.Phe895Ile)
c.*1049T>A (n.*1049T>A)
4g.99622765T>CCA357520442MTTPc.2602T>C (p.Phe868Leu)
c.2353T>C (p.Phe785Leu)
c.2683T>C (p.Phe895Leu)
c.*1049T>C (n.*1049T>C)
4g.99622765T>GCA357520443MTTPc.2602T>G (p.Phe868Val)
c.2353T>G (p.Phe785Val)
c.2683T>G (p.Phe895Val)
c.*1049T>G (n.*1049T>G)
4g.99622766T>ACA357520445MTTPc.2603T>A (p.Phe868Tyr)
c.2354T>A (p.Phe785Tyr)
c.2684T>A (p.Phe895Tyr)
c.*1050T>A (n.*1050T>A)
4g.99622766T>CCA357520448MTTPc.2603T>C (p.Phe868Ser)
c.2354T>C (p.Phe785Ser)
c.2684T>C (p.Phe895Ser)
c.*1050T>C (n.*1050T>C)
4g.99622766T>GCA357520447MTTPc.2603T>G (p.Phe868Cys)
c.2354T>G (p.Phe785Cys)
c.2684T>G (p.Phe895Cys)
c.*1050T>G (n.*1050T>G)
4g.99622767C>ACA357520450MTTPc.2604C>A (p.Phe868Leu)
c.2355C>A (p.Phe785Leu)
c.2685C>A (p.Phe895Leu)
c.*1051C>A (n.*1051C>A)
4g.99622767C>GCA357520453MTTPc.2604C>G (p.Phe868Leu)
c.2355C>G (p.Phe785Leu)
c.2685C>G (p.Phe895Leu)
c.*1051C>G (n.*1051C>G)
4g.99622767C>TCA440333143MTTPc.2604C>T (p.Phe868=)
c.2355C>T (p.Phe785=)
c.2685C>T (p.Phe895=)
c.*1051C>T (n.*1051C>T)
4g.99622768C>ACA3022411MTTPc.2605C>A (p.Pro869Thr)
c.2356C>A (p.Pro786Thr)
c.2686C>A (p.Pro896Thr)
c.*1052C>A (n.*1052C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622768C=CA1480087973MTTPc.2605C= (p.Pro869=)
c.2356C= (p.Pro786=)
c.2686C= (p.Pro896=)
c.*1052C= (n.*1052C=)
4g.99622768C>GCA357520456MTTPc.2605C>G (p.Pro869Ala)
c.2356C>G (p.Pro786Ala)
c.2686C>G (p.Pro896Ala)
c.*1052C>G (n.*1052C>G)
4g.99622768C>TCA357520457MTTPc.2605C>T (p.Pro869Ser)
c.2356C>T (p.Pro786Ser)
c.2686C>T (p.Pro896Ser)
c.*1052C>T (n.*1052C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99622769C>ACA3022412MTTPc.2606C>A (p.Pro869Gln)
c.2357C>A (p.Pro786Gln)
c.2687C>A (p.Pro896Gln)
c.*1053C>A (n.*1053C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622769C=CA1480087974MTTPc.2606C= (p.Pro869=)
c.2357C= (p.Pro786=)
c.2687C= (p.Pro896=)
c.*1053C= (n.*1053C=)
4g.99622769C>GCA357520460MTTPc.2606C>G (p.Pro869Arg)
c.2357C>G (p.Pro786Arg)
c.2687C>G (p.Pro896Arg)
c.*1053C>G (n.*1053C>G)
4g.99622769C>TCA357520462MTTPc.2606C>T (p.Pro869Leu)
c.2357C>T (p.Pro786Leu)
c.2687C>T (p.Pro896Leu)
c.*1053C>T (n.*1053C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99622769_99622770delinsTTCA645520134MTTPc.2606_2607delinsTT (p.Pro869Leu)
c.2357_2358delinsTT (p.Pro786Leu)
c.2687_2688delinsTT (p.Pro896Leu)
c.*1053_*1054delinsTT (n.*1053_*1054delinsTT)
 COSMIC
4g.99622770G>ACA3022413MTTPc.2607G>A (p.Pro869=)
c.2358G>A (p.Pro786=)
c.2688G>A (p.Pro896=)
c.*1054G>A (n.*1054G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622770G>CCA440333158MTTPc.2607G>C (p.Pro869=)
c.2358G>C (p.Pro786=)
c.2688G>C (p.Pro896=)
c.*1054G>C (n.*1054G>C)
4g.99622770G=CA1480087975MTTPc.2607G= (p.Pro869=)
c.2358G= (p.Pro786=)
c.2688G= (p.Pro896=)
c.*1054G= (n.*1054G=)
4g.99622770G>TCA440333156MTTPc.2607G>T (p.Pro869=)
c.2358G>T (p.Pro786=)
c.2688G>T (p.Pro896=)
c.*1054G>T (n.*1054G>T)
4g.99622771C>ACA357520465MTTPc.2608C>A (p.Leu870Ile)
c.2359C>A (p.Leu787Ile)
c.2689C>A (p.Leu897Ile)
c.*1055C>A (n.*1055C>A)
4g.99622771C>GCA357520467MTTPc.2608C>G (p.Leu870Val)
c.2359C>G (p.Leu787Val)
c.2689C>G (p.Leu897Val)
c.*1055C>G (n.*1055C>G)
4g.99622771C>TCA357520469MTTPc.2608C>T (p.Leu870Phe)
c.2359C>T (p.Leu787Phe)
c.2689C>T (p.Leu897Phe)
c.*1055C>T (n.*1055C>T)
 gnomAD v4
4g.99622772T>ACA357520471MTTPc.2609T>A (p.Leu870His)
c.2360T>A (p.Leu787His)
c.2690T>A (p.Leu897His)
c.*1056T>A (n.*1056T>A)
4g.99622772T>CCA357520473MTTPc.2609T>C (p.Leu870Pro)
c.2360T>C (p.Leu787Pro)
c.2690T>C (p.Leu897Pro)
c.*1056T>C (n.*1056T>C)
4g.99622772T>GCA357520472MTTPc.2609T>G (p.Leu870Arg)
c.2360T>G (p.Leu787Arg)
c.2690T>G (p.Leu897Arg)
c.*1056T>G (n.*1056T>G)
4g.99622773C>ACA440333173MTTPc.2610C>A (p.Leu870=)
c.2361C>A (p.Leu787=)
c.2691C>A (p.Leu897=)
c.*1057C>A (n.*1057C>A)
 ClinVar dbSNP
4g.99622773C=CA1480087976MTTPc.2610C= (p.Leu870=)
c.2361C= (p.Leu787=)
c.2691C= (p.Leu897=)
c.*1057C= (n.*1057C=)
4g.99622773C>GCA440333172MTTPc.2610C>G (p.Leu870=)
c.2361C>G (p.Leu787=)
c.2691C>G (p.Leu897=)
c.*1057C>G (n.*1057C>G)
4g.99622773C>TCA440333171MTTPc.2610C>T (p.Leu870=)
c.2361C>T (p.Leu787=)
c.2691C>T (p.Leu897=)
c.*1057C>T (n.*1057C>T)
4g.99622774delCA2695203670MTTPc.2611del (p.His871IlefsTer29)
c.2362del (p.His788IlefsTer29)
c.2692del (p.His898IlefsTer29)
c.*1058del (n.*1058del)
4g.99622774C>ACA357520475MTTPc.2611C>A (p.His871Asn)
c.2362C>A (p.His788Asn)
c.2692C>A (p.His898Asn)
c.*1058C>A (n.*1058C>A)
4g.99622774C=CA1480087977MTTPc.2611C= (p.His871=)
c.2362C= (p.His788=)
c.2692C= (p.His898=)
c.*1058C= (n.*1058C=)
4g.99622774C>GCA357520477MTTPc.2611C>G (p.His871Asp)
c.2362C>G (p.His788Asp)
c.2692C>G (p.His898Asp)
c.*1058C>G (n.*1058C>G)
4g.99622774C>TCA3022414MTTPc.2611C>T (p.His871Tyr)
c.2362C>T (p.His788Tyr)
c.2692C>T (p.His898Tyr)
c.*1058C>T (n.*1058C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622775A=CA1480087978MTTPc.2612A= (p.His871=)
c.2363A= (p.His788=)
c.2693A= (p.His898=)
c.*1059A= (n.*1059A=)
4g.99622775A>CCA357520479MTTPc.2612A>C (p.His871Pro)
c.2363A>C (p.His788Pro)
c.2693A>C (p.His898Pro)
c.*1059A>C (n.*1059A>C)
 gnomAD v4
4g.99622775A>GCA357520481MTTPc.2612A>G (p.His871Arg)
c.2363A>G (p.His788Arg)
c.2693A>G (p.His898Arg)
c.*1059A>G (n.*1059A>G)
4g.99622775A>TCA3022415MTTPc.2612A>T (p.His871Leu)
c.2363A>T (p.His788Leu)
c.2693A>T (p.His898Leu)
c.*1059A>T (n.*1059A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622775_99622776insGCA1480087979MTTPc.2612_2613insG (p.His871GlnfsTer18)
c.2363_2364insG (p.His788GlnfsTer18)
c.2693_2694insG (p.His898GlnfsTer18)
c.*1059_*1060insG (n.*1059_*1060insG)
 dbSNP
4g.99622776T>ACA357520484MTTPc.2613T>A (p.His871Gln)
c.2364T>A (p.His788Gln)
c.2694T>A (p.His898Gln)
c.*1060T>A (n.*1060T>A)
4g.99622776T>CCA440333187MTTPc.2613T>C (p.His871=)
c.2364T>C (p.His788=)
c.2694T>C (p.His898=)
c.*1060T>C (n.*1060T>C)
 dbSNP
4g.99622776T>GCA357520483MTTPc.2613T>G (p.His871Gln)
c.2364T>G (p.His788Gln)
c.2694T>G (p.His898Gln)
c.*1060T>G (n.*1060T>G)
4g.99622776T=CA1480087980MTTPc.2613T= (p.His871=)
c.2364T= (p.His788=)
c.2694T= (p.His898=)
c.*1060T= (n.*1060T=)
4g.99622777C>ACA357520486MTTPc.2614C>A (p.Gln872Lys)
c.2365C>A (p.Gln789Lys)
c.2695C>A (p.Gln899Lys)
c.*1061C>A (n.*1061C>A)
4g.99622777C>GCA357520487MTTPc.2614C>G (p.Gln872Glu)
c.2365C>G (p.Gln789Glu)
c.2695C>G (p.Gln899Glu)
c.*1061C>G (n.*1061C>G)
4g.99622777C>TCA357520488MTTPc.2614C>T (p.Gln872Ter)
c.2365C>T (p.Gln789Ter)
c.2695C>T (p.Gln899Ter)
c.*1061C>T (n.*1061C>T)
4g.99622778A>CCA357520490MTTPc.2615A>C (p.Gln872Pro)
c.2366A>C (p.Gln789Pro)
c.2696A>C (p.Gln899Pro)
c.*1062A>C (n.*1062A>C)
4g.99622778A>GCA357520491MTTPc.2615A>G (p.Gln872Arg)
c.2366A>G (p.Gln789Arg)
c.2696A>G (p.Gln899Arg)
c.*1062A>G (n.*1062A>G)
4g.99622778A>TCA357520493MTTPc.2615A>T (p.Gln872Leu)
c.2366A>T (p.Gln789Leu)
c.2696A>T (p.Gln899Leu)
c.*1062A>T (n.*1062A>T)
 COSMIC
4g.99622779A=CA1480087981MTTPc.2616A= (p.Gln872=)
c.2367A= (p.Gln789=)
c.2697A= (p.Gln899=)
c.*1063A= (n.*1063A=)
4g.99622779A>CCA357520495MTTPc.2616A>C (p.Gln872His)
c.2367A>C (p.Gln789His)
c.2697A>C (p.Gln899His)
c.*1063A>C (n.*1063A>C)
4g.99622779A>GCA3022416MTTPc.2616A>G (p.Gln872=)
c.2367A>G (p.Gln789=)
c.2697A>G (p.Gln899=)
c.*1063A>G (n.*1063A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622779A>TCA357520497MTTPc.2616A>T (p.Gln872His)
c.2367A>T (p.Gln789His)
c.2697A>T (p.Gln899His)
c.*1063A>T (n.*1063A>T)
4g.99622780G>ACA357520501MTTPc.2617G>A (p.Glu873Lys)
c.2368G>A (p.Glu790Lys)
c.2698G>A (p.Glu900Lys)
c.*1064G>A (n.*1064G>A)
4g.99622780G>CCA357520509MTTPc.2617G>C (p.Glu873Gln)
c.2368G>C (p.Glu790Gln)
c.2698G>C (p.Glu900Gln)
c.*1064G>C (n.*1064G>C)
4g.99622780G>TCA357520511MTTPc.2617G>T (p.Glu873Ter)
c.2368G>T (p.Glu790Ter)
c.2698G>T (p.Glu900Ter)
c.*1064G>T (n.*1064G>T)
4g.99622780_99622781insTTACTGCA1480087982MTTPc.2617_2618insTTACTG (p.Gln872_Glu873insValThr)
c.2368_2369insTTACTG (p.Gln789_Glu790insValThr)
c.2698_2699insTTACTG (p.Gln899_Glu900insValThr)
c.*1064_*1065insTTACTG (n.*1064_*1065insTTACTG)
 dbSNP
4g.99622781A>CCA357520515MTTPc.2618A>C (p.Glu873Ala)
c.2369A>C (p.Glu790Ala)
c.2699A>C (p.Glu900Ala)
c.*1065A>C (n.*1065A>C)
4g.99622781A>GCA357520518MTTPc.2618A>G (p.Glu873Gly)
c.2369A>G (p.Glu790Gly)
c.2699A>G (p.Glu900Gly)
c.*1065A>G (n.*1065A>G)
4g.99622781A>TCA357520519MTTPc.2618A>T (p.Glu873Val)
c.2369A>T (p.Glu790Val)
c.2699A>T (p.Glu900Val)
c.*1065A>T (n.*1065A>T)
4g.99622782G>ACA440333209MTTPc.2619G>A (p.Glu873=)
c.2370G>A (p.Glu790=)
c.2700G>A (p.Glu900=)
c.*1066G>A (n.*1066G>A)
4g.99622782G>CCA357520522MTTPc.2619G>C (p.Glu873Asp)
c.2370G>C (p.Glu790Asp)
c.2700G>C (p.Glu900Asp)
c.*1066G>C (n.*1066G>C)
 ClinVar gnomAD v4
4g.99622782G=CA1480087983MTTPc.2619G= (p.Glu873=)
c.2370G= (p.Glu790=)
c.2700G= (p.Glu900=)
c.*1066G= (n.*1066G=)
4g.99622782G>TCA357520524MTTPc.2619G>T (p.Glu873Asp)
c.2370G>T (p.Glu790Asp)
c.2700G>T (p.Glu900Asp)
c.*1066G>T (n.*1066G>T)
 dbSNP COSMIC
4g.99622783A>CCA357520528MTTPc.2620A>C (p.Asn874His)
c.2371A>C (p.Asn791His)
c.2701A>C (p.Asn901His)
c.*1067A>C (n.*1067A>C)
4g.99622783A>GCA357520531MTTPc.2620A>G (p.Asn874Asp)
c.2371A>G (p.Asn791Asp)
c.2701A>G (p.Asn901Asp)
c.*1067A>G (n.*1067A>G)
 ClinVar dbSNP
4g.99622783A>TCA357520533MTTPc.2620A>T (p.Asn874Tyr)
c.2371A>T (p.Asn791Tyr)
c.2701A>T (p.Asn901Tyr)
c.*1067A>T (n.*1067A>T)
4g.99622784A>CCA357520535MTTPc.2621A>C (p.Asn874Thr)
c.2372A>C (p.Asn791Thr)
c.2702A>C (p.Asn901Thr)
c.*1068A>C (n.*1068A>C)
4g.99622784A>GCA357520540MTTPc.2621A>G (p.Asn874Ser)
c.2372A>G (p.Asn791Ser)
c.2702A>G (p.Asn901Ser)
c.*1068A>G (n.*1068A>G)
 gnomAD v4
4g.99622784A>TCA357520537MTTPc.2621A>T (p.Asn874Ile)
c.2372A>T (p.Asn791Ile)
c.2702A>T (p.Asn901Ile)
c.*1068A>T (n.*1068A>T)
4g.99622785C>ACA357520543MTTPc.2622C>A (p.Asn874Lys)
c.2373C>A (p.Asn791Lys)
c.2703C>A (p.Asn901Lys)
c.*1069C>A (n.*1069C>A)
4g.99622785C>GCA357520544MTTPc.2622C>G (p.Asn874Lys)
c.2373C>G (p.Asn791Lys)
c.2703C>G (p.Asn901Lys)
c.*1069C>G (n.*1069C>G)
4g.99622785C>TCA440333224MTTPc.2622C>T (p.Asn874=)
c.2373C>T (p.Asn791=)
c.2703C>T (p.Asn901=)
c.*1069C>T (n.*1069C>T)
 gnomAD v4
4g.99622786T>ACA357520546MTTPc.2623T>A (p.Ser875Thr)
c.2374T>A (p.Ser792Thr)
c.2704T>A (p.Ser902Thr)
c.*1070T>A (n.*1070T>A)
 dbSNP
4g.99622786T>CCA3022417MTTPc.2623T>C (p.Ser875Pro)
c.2374T>C (p.Ser792Pro)
c.2704T>C (p.Ser902Pro)
c.*1070T>C (n.*1070T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622786T>GCA357520549MTTPc.2623T>G (p.Ser875Ala)
c.2374T>G (p.Ser792Ala)
c.2704T>G (p.Ser902Ala)
c.*1070T>G (n.*1070T>G)
4g.99622786T=CA1480087984MTTPc.2623T= (p.Ser875=)
c.2374T= (p.Ser792=)
c.2704T= (p.Ser902=)
c.*1070T= (n.*1070T=)
4g.99622787C>ACA357520552MTTPc.2624C>A (p.Ser875Ter)
c.2375C>A (p.Ser792Ter)
c.2705C>A (p.Ser902Ter)
c.*1071C>A (n.*1071C>A)
4g.99622787C>GCA357520555MTTPc.2624C>G (p.Ser875Ter)
c.2375C>G (p.Ser792Ter)
c.2705C>G (p.Ser902Ter)
c.*1071C>G (n.*1071C>G)
4g.99622787C>TCA357520557MTTPc.2624C>T (p.Ser875Leu)
c.2375C>T (p.Ser792Leu)
c.2705C>T (p.Ser902Leu)
c.*1071C>T (n.*1071C>T)
4g.99622788A>CCA440333228MTTPc.2625A>C (p.Ser875=)
c.2376A>C (p.Ser792=)
c.2706A>C (p.Ser902=)
c.*1072A>C (n.*1072A>C)
 gnomAD v4 COSMIC
4g.99622788A>GCA440333230MTTPc.2625A>G (p.Ser875=)
c.2376A>G (p.Ser792=)
c.2706A>G (p.Ser902=)
c.*1072A>G (n.*1072A>G)
 dbSNP
4g.99622788A>TCA440333232MTTPc.2625A>T (p.Ser875=)
c.2376A>T (p.Ser792=)
c.2706A>T (p.Ser902=)
c.*1072A>T (n.*1072A>T)
4g.99622789G>ACA357520560MTTPc.2626G>A (p.Glu876Lys)
c.2377G>A (p.Glu793Lys)
c.2707G>A (p.Glu903Lys)
c.*1073G>A (n.*1073G>A)
4g.99622789G>CCA357520563MTTPc.2626G>C (p.Glu876Gln)
c.2377G>C (p.Glu793Gln)
c.2707G>C (p.Glu903Gln)
c.*1073G>C (n.*1073G>C)
4g.99622789G>TCA357520566MTTPc.2626G>T (p.Glu876Ter)
c.2377G>T (p.Glu793Ter)
c.2707G>T (p.Glu903Ter)
c.*1073G>T (n.*1073G>T)
4g.99622790A>CCA357520569MTTPc.2627A>C (p.Glu876Ala)
c.2378A>C (p.Glu793Ala)
c.2708A>C (p.Glu903Ala)
c.*1074A>C (n.*1074A>C)
4g.99622790A>GCA357520572MTTPc.2627A>G (p.Glu876Gly)
c.2378A>G (p.Glu793Gly)
c.2708A>G (p.Glu903Gly)
c.*1074A>G (n.*1074A>G)
4g.99622790A>TCA357520573MTTPc.2627A>T (p.Glu876Val)
c.2378A>T (p.Glu793Val)
c.2708A>T (p.Glu903Val)
c.*1074A>T (n.*1074A>T)
4g.99622791G>ACA440333236MTTPc.2628G>A (p.Glu876=)
c.2379G>A (p.Glu793=)
c.2709G>A (p.Glu903=)
c.*1075G>A (n.*1075G>A)
4g.99622791G>CCA357520578MTTPc.2628G>C (p.Glu876Asp)
c.2379G>C (p.Glu793Asp)
c.2709G>C (p.Glu903Asp)
c.*1075G>C (n.*1075G>C)
4g.99622791G>TCA357520576MTTPc.2628G>T (p.Glu876Asp)
c.2379G>T (p.Glu793Asp)
c.2709G>T (p.Glu903Asp)
c.*1075G>T (n.*1075G>T)
4g.99622792A=CA1480087985MTTPc.2629A= (p.Met877=)
c.2380A= (p.Met794=)
c.2710A= (p.Met904=)
c.*1076A= (n.*1076A=)
4g.99622792A>CCA357520582MTTPc.2629A>C (p.Met877Leu)
c.2380A>C (p.Met794Leu)
c.2710A>C (p.Met904Leu)
c.*1076A>C (n.*1076A>C)
4g.99622792A>GCA357520584MTTPc.2629A>G (p.Met877Val)
c.2380A>G (p.Met794Val)
c.2710A>G (p.Met904Val)
c.*1076A>G (n.*1076A>G)
 ClinVar dbSNP
4g.99622792A>TCA357520586MTTPc.2629A>T (p.Met877Leu)
c.2380A>T (p.Met794Leu)
c.2710A>T (p.Met904Leu)
c.*1076A>T (n.*1076A>T)
4g.99622793T>ACA357520588MTTPc.2630T>A (p.Met877Lys)
c.2381T>A (p.Met794Lys)
c.2711T>A (p.Met904Lys)
c.*1077T>A (n.*1077T>A)
 gnomAD v4
4g.99622793T>CCA357520591MTTPc.2630T>C (p.Met877Thr)
c.2381T>C (p.Met794Thr)
c.2711T>C (p.Met904Thr)
c.*1077T>C (n.*1077T>C)
4g.99622793T>GCA357520594MTTPc.2630T>G (p.Met877Arg)
c.2381T>G (p.Met794Arg)
c.2711T>G (p.Met904Arg)
c.*1077T>G (n.*1077T>G)
4g.99622794G>ACA3022418MTTPc.2631G>A (p.Met877Ile)
c.2382G>A (p.Met794Ile)
c.2712G>A (p.Met904Ile)
c.*1078G>A (n.*1078G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622794G>CCA357520597MTTPc.2631G>C (p.Met877Ile)
c.2382G>C (p.Met794Ile)
c.2712G>C (p.Met904Ile)
c.*1078G>C (n.*1078G>C)
4g.99622794G=CA1480087986MTTPc.2631G= (p.Met877=)
c.2382G= (p.Met794=)
c.2712G= (p.Met904=)
c.*1078G= (n.*1078G=)
4g.99622794G>TCA357520599MTTPc.2631G>T (p.Met877Ile)
c.2382G>T (p.Met794Ile)
c.2712G>T (p.Met904Ile)
c.*1078G>T (n.*1078G>T)
4g.99622795T>ACA357520600MTTPc.2632T>A (p.Cys878Ser)
c.2383T>A (p.Cys795Ser)
c.2713T>A (p.Cys905Ser)
c.*1079T>A (n.*1079T>A)
4g.99622795T>CCA357520602MTTPc.2632T>C (p.Cys878Arg)
c.2383T>C (p.Cys795Arg)
c.2713T>C (p.Cys905Arg)
c.*1079T>C (n.*1079T>C)
4g.99622795T>GCA357520605MTTPc.2632T>G (p.Cys878Gly)
c.2383T>G (p.Cys795Gly)
c.2713T>G (p.Cys905Gly)
c.*1079T>G (n.*1079T>G)
 gnomAD v4
4g.99622796G>ACA357520614MTTPc.2633G>A (p.Cys878Tyr)
c.2384G>A (p.Cys795Tyr)
c.2714G>A (p.Cys905Tyr)
c.*1080G>A (n.*1080G>A)
 COSMIC
4g.99622796G>CCA357520611MTTPc.2633G>C (p.Cys878Ser)
c.2384G>C (p.Cys795Ser)
c.2714G>C (p.Cys905Ser)
c.*1080G>C (n.*1080G>C)
4g.99622796G>TCA357520609MTTPc.2633G>T (p.Cys878Phe)
c.2384G>T (p.Cys795Phe)
c.2714G>T (p.Cys905Phe)
c.*1080G>T (n.*1080G>T)
4g.99622797C>ACA357520617MTTPc.2634C>A (p.Cys878Ter)
c.2385C>A (p.Cys795Ter)
c.2715C>A (p.Cys905Ter)
c.*1081C>A (n.*1081C>A)
4g.99622797C=CA1480087987MTTPc.2634C= (p.Cys878=)
c.2385C= (p.Cys795=)
c.2715C= (p.Cys905=)
c.*1081C= (n.*1081C=)
4g.99622797C>GCA357520619MTTPc.2634C>G (p.Cys878Trp)
c.2385C>G (p.Cys795Trp)
c.2715C>G (p.Cys905Trp)
c.*1081C>G (n.*1081C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622797C>TCA440333252MTTPc.2634C>T (p.Cys878=)
c.2385C>T (p.Cys795=)
c.2715C>T (p.Cys905=)
c.*1081C>T (n.*1081C>T)
 dbSNP
4g.99622798A=CA1480087988MTTPc.2635A= (p.Lys879=)
c.2386A= (p.Lys796=)
c.2716A= (p.Lys906=)
c.*1082A= (n.*1082A=)
4g.99622798A>CCA357520623MTTPc.2635A>C (p.Lys879Gln)
c.2386A>C (p.Lys796Gln)
c.2716A>C (p.Lys906Gln)
c.*1082A>C (n.*1082A>C)
 gnomAD v4
4g.99622798A>GCA357520625MTTPc.2635A>G (p.Lys879Glu)
c.2386A>G (p.Lys796Glu)
c.2716A>G (p.Lys906Glu)
c.*1082A>G (n.*1082A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99622798A>TCA357520628MTTPc.2635A>T (p.Lys879Ter)
c.2386A>T (p.Lys796Ter)
c.2716A>T (p.Lys906Ter)
c.*1082A>T (n.*1082A>T)
4g.99622799A=CA1480087989MTTPc.2636A= (p.Lys879=)
c.2387A= (p.Lys796=)
c.2717A= (p.Lys906=)
c.*1083A= (n.*1083A=)
4g.99622799A>CCA357520632MTTPc.2636A>C (p.Lys879Thr)
c.2387A>C (p.Lys796Thr)
c.2717A>C (p.Lys906Thr)
c.*1083A>C (n.*1083A>C)
4g.99622799A>GCA3022419MTTPc.2636A>G (p.Lys879Arg)
c.2387A>G (p.Lys796Arg)
c.2717A>G (p.Lys906Arg)
c.*1083A>G (n.*1083A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622799A>TCA357520637MTTPc.2636A>T (p.Lys879Ile)
c.2387A>T (p.Lys796Ile)
c.2717A>T (p.Lys906Ile)
c.*1083A>T (n.*1083A>T)
4g.99622800A>CCA357520639MTTPc.2637A>C (p.Lys879Asn)
c.2388A>C (p.Lys796Asn)
c.2718A>C (p.Lys906Asn)
c.*1084A>C (n.*1084A>C)
4g.99622800A>GCA440333260MTTPc.2637A>G (p.Lys879=)
c.2388A>G (p.Lys796=)
c.2718A>G (p.Lys906=)
c.*1084A>G (n.*1084A>G)
4g.99622800A>TCA357520641MTTPc.2637A>T (p.Lys879Asn)
c.2388A>T (p.Lys796Asn)
c.2718A>T (p.Lys906Asn)
c.*1084A>T (n.*1084A>T)
4g.99622801G>ACA357520645MTTPc.2638G>A (p.Val880Met)
c.2389G>A (p.Val797Met)
c.2719G>A (p.Val907Met)
c.*1085G>A (n.*1085G>A)
 gnomAD v4
4g.99622801G>CCA357520647MTTPc.2638G>C (p.Val880Leu)
c.2389G>C (p.Val797Leu)
c.2719G>C (p.Val907Leu)
c.*1085G>C (n.*1085G>C)
4g.99622801G>TCA357520648MTTPc.2638G>T (p.Val880Leu)
c.2389G>T (p.Val797Leu)
c.2719G>T (p.Val907Leu)
c.*1085G>T (n.*1085G>T)

Number of alleles fetched