Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27232101A=CA1240180290CADc.2522A= (p.Lys841=)
c.2333A= (p.Lys778=)
n.270A=
c.248A= (p.Lys83=)
2g.27232101A>CCA346211547CADc.2522A>C (p.Lys841Thr)
c.2333A>C (p.Lys778Thr)
n.270A>C
c.248A>C (p.Lys83Thr)
2g.27232101A>GCA44507179CADc.2522A>G (p.Lys841Arg)
c.2333A>G (p.Lys778Arg)
n.270A>G
c.248A>G (p.Lys83Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232101A>TCA346211550CADc.2522A>T (p.Lys841Met)
c.2333A>T (p.Lys778Met)
n.270A>T
c.248A>T (p.Lys83Met)
2g.27232102G>ACA425384864CADc.2523G>A (p.Lys841=)
c.2334G>A (p.Lys778=)
n.271G>A
c.249G>A (p.Lys83=)
 dbSNP gnomAD v3 gnomAD v4
2g.27232102G>CCA346211551CADc.2523G>C (p.Lys841Asn)
c.2334G>C (p.Lys778Asn)
n.271G>C
c.249G>C (p.Lys83Asn)
2g.27232102G=CA1240180291CADc.2523G= (p.Lys841=)
c.2334G= (p.Lys778=)
n.271G=
c.249G= (p.Lys83=)
2g.27232102G>TCA1573038CADc.2523G>T (p.Lys841Asn)
c.2334G>T (p.Lys778Asn)
n.271G>T
c.249G>T (p.Lys83Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232103C>ACA346211552CADc.2524C>A (p.Arg842Ser)
c.2335C>A (p.Arg779Ser)
n.272C>A
c.250C>A (p.Arg84Ser)
2g.27232103C=CA1240180292CADc.2524C= (p.Arg842=)
c.2335C= (p.Arg779=)
n.272C=
c.250C= (p.Arg84=)
2g.27232103C>GCA346211554CADc.2524C>G (p.Arg842Gly)
c.2335C>G (p.Arg779Gly)
n.272C>G
c.250C>G (p.Arg84Gly)
 gnomAD v4
2g.27232103C>TCA346211555CADc.2524C>T (p.Arg842Cys)
c.2335C>T (p.Arg779Cys)
n.272C>T
c.250C>T (p.Arg84Cys)
 ClinVar dbSNP gnomAD v4
2g.27232104G>ACA1573039CADc.2525G>A (p.Arg842His)
c.2336G>A (p.Arg779His)
n.273G>A
c.251G>A (p.Arg84His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232104G>CCA346211557CADc.2525G>C (p.Arg842Pro)
c.2336G>C (p.Arg779Pro)
n.273G>C
c.251G>C (p.Arg84Pro)
2g.27232104G=CA1240180293CADc.2525G= (p.Arg842=)
c.2336G= (p.Arg779=)
n.273G=
c.251G= (p.Arg84=)
2g.27232104G>TCA346211558CADc.2525G>T (p.Arg842Leu)
c.2336G>T (p.Arg779Leu)
n.273G>T
c.251G>T (p.Arg84Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232105T>ACA425384865CADc.2526T>A (p.Arg842=)
c.2337T>A (p.Arg779=)
n.274T>A
c.252T>A (p.Arg84=)
2g.27232105T>CCA425384866CADc.2526T>C (p.Arg842=)
c.2337T>C (p.Arg779=)
n.274T>C
c.252T>C (p.Arg84=)
2g.27232105T>GCA425384867CADc.2526T>G (p.Arg842=)
c.2337T>G (p.Arg779=)
n.274T>G
c.252T>G (p.Arg84=)
2g.27232106A>CCA346211559CADc.2527A>C (p.Ile843Leu)
c.2338A>C (p.Ile780Leu)
n.275A>C
c.253A>C (p.Ile85Leu)
2g.27232106A>GCA346211561CADc.2527A>G (p.Ile843Val)
c.2338A>G (p.Ile780Val)
n.275A>G
c.253A>G (p.Ile85Val)
2g.27232106A>TCA346211562CADc.2527A>T (p.Ile843Phe)
c.2338A>T (p.Ile780Phe)
n.275A>T
c.253A>T (p.Ile85Phe)
2g.27232107T>ACA346211564CADc.2528T>A (p.Ile843Asn)
c.2339T>A (p.Ile780Asn)
n.276T>A
c.254T>A (p.Ile85Asn)
2g.27232107T>CCA346211565CADc.2528T>C (p.Ile843Thr)
c.2339T>C (p.Ile780Thr)
n.276T>C
c.254T>C (p.Ile85Thr)
2g.27232107T>GCA346211567CADc.2528T>G (p.Ile843Ser)
c.2339T>G (p.Ile780Ser)
n.276T>G
c.254T>G (p.Ile85Ser)
2g.27232108C>ACA425384868CADc.2529C>A (p.Ile843=)
c.2340C>A (p.Ile780=)
n.277C>A
c.255C>A (p.Ile85=)
2g.27232108C=CA1240180294CADc.2529C= (p.Ile843=)
c.2340C= (p.Ile780=)
n.277C=
c.255C= (p.Ile85=)
2g.27232108C>GCA346211569CADc.2529C>G (p.Ile843Met)
c.2340C>G (p.Ile780Met)
n.277C>G
c.255C>G (p.Ile85Met)
2g.27232108C>TCA425384869CADc.2529C>T (p.Ile843=)
c.2340C>T (p.Ile780=)
n.277C>T
c.255C>T (p.Ile85=)
 dbSNP gnomAD v2 gnomAD v4
2g.27232109A=CA1240180295CADc.2530A= (p.Ile844=)
c.2341A= (p.Ile781=)
n.278A=
c.256A= (p.Ile86=)
2g.27232109A>CCA346211572CADc.2530A>C (p.Ile844Leu)
c.2341A>C (p.Ile781Leu)
n.278A>C
c.256A>C (p.Ile86Leu)
2g.27232109A>GCA346211574CADc.2530A>G (p.Ile844Val)
c.2341A>G (p.Ile781Val)
n.278A>G
c.256A>G (p.Ile86Val)
 ClinVar dbSNP gnomAD v4
2g.27232109A>TCA346211570CADc.2530A>T (p.Ile844Phe)
c.2341A>T (p.Ile781Phe)
n.278A>T
c.256A>T (p.Ile86Phe)
2g.27232110T>ACA1573040CADc.2531T>A (p.Ile844Asn)
c.2342T>A (p.Ile781Asn)
n.279T>A
c.257T>A (p.Ile86Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232110T>CCA346211575CADc.2531T>C (p.Ile844Thr)
c.2342T>C (p.Ile781Thr)
n.279T>C
c.257T>C (p.Ile86Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232110T>GCA346211576CADc.2531T>G (p.Ile844Ser)
c.2342T>G (p.Ile781Ser)
n.279T>G
c.257T>G (p.Ile86Ser)
2g.27232110T=CA1240180296CADc.2531T= (p.Ile844=)
c.2342T= (p.Ile781=)
n.279T=
c.257T= (p.Ile86=)
2g.27232111C>ACA425384870CADc.2532C>A (p.Ile844=)
c.2343C>A (p.Ile781=)
n.280C>A
c.258C>A (p.Ile86=)
2g.27232111C=CA1240180297CADc.2532C= (p.Ile844=)
c.2343C= (p.Ile781=)
n.280C=
c.258C= (p.Ile86=)
2g.27232111C>GCA346211577CADc.2532C>G (p.Ile844Met)
c.2343C>G (p.Ile781Met)
n.280C>G
c.258C>G (p.Ile86Met)
2g.27232111C>TCA1573041CADc.2532C>T (p.Ile844=)
c.2343C>T (p.Ile781=)
n.280C>T
c.258C>T (p.Ile86=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232112G>ACA1573042CADc.2533G>A (p.Ala845Thr)
c.2344G>A (p.Ala782Thr)
n.281G>A
c.259G>A (p.Ala87Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232112G>CCA1573043CADc.2533G>C (p.Ala845Pro)
c.2344G>C (p.Ala782Pro)
n.281G>C
c.259G>C (p.Ala87Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232112G=CA1240180298CADc.2533G= (p.Ala845=)
c.2344G= (p.Ala782=)
n.281G=
c.259G= (p.Ala87=)
2g.27232112G>TCA346211579CADc.2533G>T (p.Ala845Ser)
c.2344G>T (p.Ala782Ser)
n.281G>T
c.259G>T (p.Ala87Ser)
2g.27232113C>ACA346211583CADc.2534C>A (p.Ala845Glu)
c.2345C>A (p.Ala782Glu)
n.282C>A
c.260C>A (p.Ala87Glu)
2g.27232113C>GCA346211584CADc.2534C>G (p.Ala845Gly)
c.2345C>G (p.Ala782Gly)
n.282C>G
c.260C>G (p.Ala87Gly)
 gnomAD v4
2g.27232113C>TCA346211585CADc.2534C>T (p.Ala845Val)
c.2345C>T (p.Ala782Val)
n.282C>T
c.260C>T (p.Ala87Val)
2g.27232114A>CCA425384871CADc.2535A>C (p.Ala845=)
c.2346A>C (p.Ala782=)
n.283A>C
c.261A>C (p.Ala87=)
 gnomAD v4
2g.27232114A>GCA425384872CADc.2535A>G (p.Ala845=)
c.2346A>G (p.Ala782=)
n.283A>G
c.261A>G (p.Ala87=)
 gnomAD v4
2g.27232114A>TCA425384873CADc.2535A>T (p.Ala845=)
c.2346A>T (p.Ala782=)
n.283A>T
c.261A>T (p.Ala87=)
2g.27232115C>ACA346211586CADc.2536C>A (p.His846Asn)
c.2347C>A (p.His783Asn)
n.284C>A
c.262C>A (p.His88Asn)
2g.27232115C=CA1240180299CADc.2536C= (p.His846=)
c.2347C= (p.His783=)
n.284C=
c.262C= (p.His88=)
2g.27232115C>GCA346211587CADc.2536C>G (p.His846Asp)
c.2347C>G (p.His783Asp)
n.284C>G
c.262C>G (p.His88Asp)
2g.27232115C>TCA44507191CADc.2536C>T (p.His846Tyr)
c.2347C>T (p.His783Tyr)
n.284C>T
c.262C>T (p.His88Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.27232116A=CA1240180300CADc.2537A= (p.His846=)
c.2348A= (p.His783=)
n.285A=
c.263A= (p.His88=)
2g.27232116A>CCA346211591CADc.2537A>C (p.His846Pro)
c.2348A>C (p.His783Pro)
n.285A>C
c.263A>C (p.His88Pro)
2g.27232116A>GCA44507193CADc.2537A>G (p.His846Arg)
c.2348A>G (p.His783Arg)
n.285A>G
c.263A>G (p.His88Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232116A>TCA346211590CADc.2537A>T (p.His846Leu)
c.2348A>T (p.His783Leu)
n.285A>T
c.263A>T (p.His88Leu)
2g.27232117T>ACA346211593CADc.2538T>A (p.His846Gln)
c.2349T>A (p.His783Gln)
n.286T>A
c.264T>A (p.His88Gln)
2g.27232117T>CCA1573044CADc.2538T>C (p.His846=)
c.2349T>C (p.His783=)
n.286T>C
c.264T>C (p.His88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232117T>GCA346211595CADc.2538T>G (p.His846Gln)
c.2349T>G (p.His783Gln)
n.286T>G
c.264T>G (p.His88Gln)
2g.27232117T=CA1240180301CADc.2538T= (p.His846=)
c.2349T= (p.His783=)
n.286T=
c.264T= (p.His88=)
2g.27232118G>ACA346211597CADc.2539G>A (p.Ala847Thr)
c.2350G>A (p.Ala784Thr)
n.287G>A
c.265G>A (p.Ala89Thr)
2g.27232118G>CCA346211599CADc.2539G>C (p.Ala847Pro)
c.2350G>C (p.Ala784Pro)
n.287G>C
c.265G>C (p.Ala89Pro)
2g.27232118G>TCA346211600CADc.2539G>T (p.Ala847Ser)
c.2350G>T (p.Ala784Ser)
n.287G>T
c.265G>T (p.Ala89Ser)
2g.27232119C>ACA346211602CADc.2540C>A (p.Ala847Asp)
c.2351C>A (p.Ala784Asp)
n.288C>A
c.266C>A (p.Ala89Asp)
2g.27232119C>GCA346211603CADc.2540C>G (p.Ala847Gly)
c.2351C>G (p.Ala784Gly)
n.288C>G
c.266C>G (p.Ala89Gly)
2g.27232119C>TCA346211605CADc.2540C>T (p.Ala847Val)
c.2351C>T (p.Ala784Val)
n.288C>T
c.266C>T (p.Ala89Val)
2g.27232120C>ACA425384874CADc.2541C>A (p.Ala847=)
c.2352C>A (p.Ala784=)
n.289C>A
c.267C>A (p.Ala89=)
2g.27232120C>GCA425384875CADc.2541C>G (p.Ala847=)
c.2352C>G (p.Ala784=)
n.289C>G
c.267C>G (p.Ala89=)
2g.27232120C>TCA425384876CADc.2541C>T (p.Ala847=)
c.2352C>T (p.Ala784=)
n.289C>T
c.267C>T (p.Ala89=)
2g.27232121C>ACA346211607CADc.2542C>A (p.Gln848Lys)
c.2353C>A (p.Gln785Lys)
n.290C>A
c.268C>A (p.Gln90Lys)
2g.27232121C>GCA346211608CADc.2542C>G (p.Gln848Glu)
c.2353C>G (p.Gln785Glu)
n.290C>G
c.268C>G (p.Gln90Glu)
2g.27232121C>TCA346211609CADc.2542C>T (p.Gln848Ter)
c.2353C>T (p.Gln785Ter)
n.290C>T
c.268C>T (p.Gln90Ter)
2g.27232122A>CCA346211610CADc.2543A>C (p.Gln848Pro)
c.2354A>C (p.Gln785Pro)
n.291A>C
c.269A>C (p.Gln90Pro)
2g.27232122A>GCA346211613CADc.2543A>G (p.Gln848Arg)
c.2354A>G (p.Gln785Arg)
n.291A>G
c.269A>G (p.Gln90Arg)
2g.27232122A>TCA346211611CADc.2543A>T (p.Gln848Leu)
c.2354A>T (p.Gln785Leu)
n.291A>T
c.269A>T (p.Gln90Leu)
2g.27232123G>ACA425384877CADc.2544G>A (p.Gln848=)
c.2355G>A (p.Gln785=)
n.292G>A
c.270G>A (p.Gln90=)
2g.27232123G>CCA346211617CADc.2544G>C (p.Gln848His)
c.2355G>C (p.Gln785His)
n.292G>C
c.270G>C (p.Gln90His)
2g.27232123G>TCA346211620CADc.2544G>T (p.Gln848His)
c.2355G>T (p.Gln785His)
n.292G>T
c.270G>T (p.Gln90His)
2g.27232124C>ACA346211623CADc.2545C>A (p.Leu849Met)
c.2356C>A (p.Leu786Met)
n.293C>A
c.271C>A (p.Leu91Met)
2g.27232124C>GCA346211625CADc.2545C>G (p.Leu849Val)
c.2356C>G (p.Leu786Val)
n.293C>G
c.271C>G (p.Leu91Val)
2g.27232124C>TCA425384878CADc.2545C>T (p.Leu849=)
c.2356C>T (p.Leu786=)
n.293C>T
c.271C>T (p.Leu91=)
2g.27232125T>ACA346211629CADc.2546T>A (p.Leu849Gln)
c.2357T>A (p.Leu786Gln)
n.294T>A
c.272T>A (p.Leu91Gln)
2g.27232125T>CCA346211631CADc.2546T>C (p.Leu849Pro)
c.2357T>C (p.Leu786Pro)
n.294T>C
c.272T>C (p.Leu91Pro)
2g.27232125T>GCA346211634CADc.2546T>G (p.Leu849Arg)
c.2357T>G (p.Leu786Arg)
n.294T>G
c.272T>G (p.Leu91Arg)
2g.27232126G>ACA425384881CADc.2547G>A (p.Leu849=)
c.2358G>A (p.Leu786=)
n.295G>A
c.273G>A (p.Leu91=)
 gnomAD v4
2g.27232126G>CCA425384879CADc.2547G>C (p.Leu849=)
c.2358G>C (p.Leu786=)
n.295G>C
c.273G>C (p.Leu91=)
2g.27232126G>TCA425384880CADc.2547G>T (p.Leu849=)
c.2358G>T (p.Leu786=)
n.295G>T
c.273G>T (p.Leu91=)
2g.27232127C>ACA346211638CADc.2548C>A (p.Leu850Ile)
c.2359C>A (p.Leu787Ile)
n.296C>A
c.274C>A (p.Leu92Ile)
2g.27232127C>GCA346211641CADc.2548C>G (p.Leu850Val)
c.2359C>G (p.Leu787Val)
n.296C>G
c.274C>G (p.Leu92Val)
2g.27232127C>TCA425384882CADc.2548C>T (p.Leu850=)
c.2359C>T (p.Leu787=)
n.296C>T
c.274C>T (p.Leu92=)
2g.27232128T>ACA346211644CADc.2549T>A (p.Leu850Gln)
c.2360T>A (p.Leu787Gln)
n.297T>A
c.275T>A (p.Leu92Gln)
2g.27232128T>CCA346211646CADc.2549T>C (p.Leu850Pro)
c.2360T>C (p.Leu787Pro)
n.297T>C
c.275T>C (p.Leu92Pro)
2g.27232128T>GCA346211648CADc.2549T>G (p.Leu850Arg)
c.2360T>G (p.Leu787Arg)
n.297T>G
c.275T>G (p.Leu92Arg)
2g.27232129A=CA1240180302CADc.2550A= (p.Leu850=)
c.2361A= (p.Leu787=)
n.298A=
c.276A= (p.Leu92=)
2g.27232129A>CCA425384883CADc.2550A>C (p.Leu850=)
c.2361A>C (p.Leu787=)
n.298A>C
c.276A>C (p.Leu92=)
2g.27232129A>GCA1573045CADc.2550A>G (p.Leu850=)
c.2361A>G (p.Leu787=)
n.298A>G
c.276A>G (p.Leu92=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232129A>TCA425384884CADc.2550A>T (p.Leu850=)
c.2361A>T (p.Leu787=)
n.298A>T
c.276A>T (p.Leu92=)
2g.27232130G>ACA346211653CADc.2551G>A (p.Glu851Lys)
c.2362G>A (p.Glu788Lys)
n.299G>A
c.277G>A (p.Glu93Lys)
2g.27232130G>CCA346211660CADc.2551G>C (p.Glu851Gln)
c.2362G>C (p.Glu788Gln)
n.299G>C
c.277G>C (p.Glu93Gln)
2g.27232130G>TCA346211656CADc.2551G>T (p.Glu851Ter)
c.2362G>T (p.Glu788Ter)
n.299G>T
c.277G>T (p.Glu93Ter)
2g.27232131A>CCA346211662CADc.2552A>C (p.Glu851Ala)
c.2363A>C (p.Glu788Ala)
n.300A>C
c.278A>C (p.Glu93Ala)
2g.27232131A>GCA346211664CADc.2552A>G (p.Glu851Gly)
c.2363A>G (p.Glu788Gly)
n.300A>G
c.278A>G (p.Glu93Gly)
2g.27232131A>TCA346211667CADc.2552A>T (p.Glu851Val)
c.2363A>T (p.Glu788Val)
n.300A>T
c.278A>T (p.Glu93Val)
2g.27232132A>CCA346211668CADc.2553A>C (p.Glu851Asp)
c.2364A>C (p.Glu788Asp)
n.301A>C
c.279A>C (p.Glu93Asp)
2g.27232132A>GCA425598678CADc.2553A>G (p.Glu851=)
c.2364A>G (p.Glu788=)
n.301A>G
c.279A>G (p.Glu93=)
2g.27232132A>TCA346211670CADc.2553A>T (p.Glu851Asp)
c.2364A>T (p.Glu788Asp)
n.301A>T
c.279A>T (p.Glu93Asp)
2g.27232133C>ACA346211679CADc.2554C>A (p.Gln852Lys)
c.2365C>A (p.Gln789Lys)
n.302C>A
c.280C>A (p.Gln94Lys)
2g.27232133C>GCA346211680CADc.2554C>G (p.Gln852Glu)
c.2365C>G (p.Gln789Glu)
n.302C>G
c.280C>G (p.Gln94Glu)
2g.27232133C>TCA346211682CADc.2554C>T (p.Gln852Ter)
c.2365C>T (p.Gln789Ter)
n.302C>T
c.280C>T (p.Gln94Ter)
2g.27232134A>CCA346211685CADc.2555A>C (p.Gln852Pro)
c.2366A>C (p.Gln789Pro)
n.303A>C
c.281A>C (p.Gln94Pro)
2g.27232134A>GCA346211687CADc.2555A>G (p.Gln852Arg)
c.2366A>G (p.Gln789Arg)
n.303A>G
c.281A>G (p.Gln94Arg)
 gnomAD v4
2g.27232134A>TCA346211688CADc.2555A>T (p.Gln852Leu)
c.2366A>T (p.Gln789Leu)
n.303A>T
c.281A>T (p.Gln94Leu)
2g.27232135A>CCA346211691CADc.2556A>C (p.Gln852His)
c.2367A>C (p.Gln789His)
n.304A>C
c.282A>C (p.Gln94His)
2g.27232135A>GCA425598679CADc.2556A>G (p.Gln852=)
c.2367A>G (p.Gln789=)
n.304A>G
c.282A>G (p.Gln94=)
2g.27232135A>TCA346211693CADc.2556A>T (p.Gln852His)
c.2367A>T (p.Gln789His)
n.304A>T
c.282A>T (p.Gln94His)
2g.27232136C>ACA346211696CADc.2557C>A (p.His853Asn)
c.2368C>A (p.His790Asn)
n.305C>A
c.283C>A (p.His95Asn)
2g.27232136C>GCA346211701CADc.2557C>G (p.His853Asp)
c.2368C>G (p.His790Asp)
n.305C>G
c.283C>G (p.His95Asp)
2g.27232136C>TCA346211698CADc.2557C>T (p.His853Tyr)
c.2368C>T (p.His790Tyr)
n.305C>T
c.283C>T (p.His95Tyr)
 gnomAD v4
2g.27232137A=CA1240180303CADc.2558A= (p.His853=)
c.2369A= (p.His790=)
n.306A=
c.284A= (p.His95=)
2g.27232137A>CCA346211703CADc.2558A>C (p.His853Pro)
c.2369A>C (p.His790Pro)
n.306A>C
c.284A>C (p.His95Pro)
 dbSNP
2g.27232137A>GCA346211706CADc.2558A>G (p.His853Arg)
c.2369A>G (p.His790Arg)
n.306A>G
c.284A>G (p.His95Arg)
2g.27232137A>TCA346211704CADc.2558A>T (p.His853Leu)
c.2369A>T (p.His790Leu)
n.306A>T
c.284A>T (p.His95Leu)
2g.27232138C>ACA346211710CADc.2559C>A (p.His853Gln)
c.2370C>A (p.His790Gln)
n.307C>A
c.285C>A (p.His95Gln)
 dbSNP
2g.27232138C=CA1240180304CADc.2559C= (p.His853=)
c.2370C= (p.His790=)
n.307C=
c.285C= (p.His95=)
2g.27232138C>GCA346211712CADc.2559C>G (p.His853Gln)
c.2370C>G (p.His790Gln)
n.307C>G
c.285C>G (p.His95Gln)
2g.27232138C>TCA425598680CADc.2559C>T (p.His853=)
c.2370C>T (p.His790=)
n.307C>T
c.285C>T (p.His95=)
2g.27232139C>ACA346211715CADc.2560C>A (p.Arg854Ser)
c.2371C>A (p.Arg791Ser)
n.308C>A
c.286C>A (p.Arg96Ser)
2g.27232139C=CA1240180305CADc.2560C= (p.Arg854=)
c.2371C= (p.Arg791=)
n.308C=
c.286C= (p.Arg96=)
2g.27232139C>GCA346211721CADc.2560C>G (p.Arg854Gly)
c.2371C>G (p.Arg791Gly)
n.308C>G
c.286C>G (p.Arg96Gly)
2g.27232139C>TCA44507217CADc.2560C>T (p.Arg854Cys)
c.2371C>T (p.Arg791Cys)
n.308C>T
c.286C>T (p.Arg96Cys)
 dbSNP gnomAD v4
2g.27232140G>ACA346211722CADc.2561G>A (p.Arg854His)
c.2372G>A (p.Arg791His)
n.309G>A
c.287G>A (p.Arg96His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232140G>CCA346211725CADc.2561G>C (p.Arg854Pro)
c.2372G>C (p.Arg791Pro)
n.309G>C
c.287G>C (p.Arg96Pro)
2g.27232140G=CA1240180306CADc.2561G= (p.Arg854=)
c.2372G= (p.Arg791=)
n.309G=
c.287G= (p.Arg96=)
2g.27232140G>TCA346211736CADc.2561G>T (p.Arg854Leu)
c.2372G>T (p.Arg791Leu)
n.309G>T
c.287G>T (p.Arg96Leu)
2g.27232141T>ACA425598681CADc.2562T>A (p.Arg854=)
c.2373T>A (p.Arg791=)
n.310T>A
c.288T>A (p.Arg96=)
2g.27232141T>CCA425598682CADc.2562T>C (p.Arg854=)
c.2373T>C (p.Arg791=)
n.310T>C
c.288T>C (p.Arg96=)
2g.27232141T>GCA425598683CADc.2562T>G (p.Arg854=)
c.2373T>G (p.Arg791=)
n.310T>G
c.288T>G (p.Arg96=)
2g.27232142G>ACA346211738CADc.2563G>A (p.Gly855Arg)
c.2374G>A (p.Gly792Arg)
n.311G>A
c.289G>A (p.Gly97Arg)
2g.27232142G>CCA346211741CADc.2563G>C (p.Gly855Arg)
c.2374G>C (p.Gly792Arg)
n.311G>C
c.289G>C (p.Gly97Arg)
2g.27232142G>TCA346211743CADc.2563G>T (p.Gly855Ter)
c.2374G>T (p.Gly792Ter)
n.311G>T
c.289G>T (p.Gly97Ter)
 COSMIC
2g.27232143G>ACA346211746CADc.2564G>A (p.Gly855Glu)
c.2375G>A (p.Gly792Glu)
n.312G>A
c.290G>A (p.Gly97Glu)
 gnomAD v4
2g.27232143G>CCA346211747CADc.2564G>C (p.Gly855Ala)
c.2375G>C (p.Gly792Ala)
n.312G>C
c.290G>C (p.Gly97Ala)
2g.27232143G>TCA346211749CADc.2564G>T (p.Gly855Val)
c.2375G>T (p.Gly792Val)
n.312G>T
c.290G>T (p.Gly97Val)
2g.27232144A>CCA425598687CADc.2565A>C (p.Gly855=)
c.2376A>C (p.Gly792=)
n.313A>C
c.291A>C (p.Gly97=)
2g.27232144A>GCA425598688CADc.2565A>G (p.Gly855=)
c.2376A>G (p.Gly792=)
n.313A>G
c.291A>G (p.Gly97=)
 ClinVar
2g.27232144A>TCA425598689CADc.2565A>T (p.Gly855=)
c.2376A>T (p.Gly792=)
n.313A>T
c.291A>T (p.Gly97=)
2g.27232145C>ACA346211751CADc.2566C>A (p.Gln856Lys)
c.2377C>A (p.Gln793Lys)
n.314C>A
c.292C>A (p.Gln98Lys)
2g.27232145C>GCA346211753CADc.2566C>G (p.Gln856Glu)
c.2377C>G (p.Gln793Glu)
n.314C>G
c.292C>G (p.Gln98Glu)
2g.27232145C>TCA346211755CADc.2566C>T (p.Gln856Ter)
c.2377C>T (p.Gln793Ter)
n.314C>T
c.292C>T (p.Gln98Ter)
2g.27232146A=CA1240180307CADc.2567A= (p.Gln856=)
c.2378A= (p.Gln793=)
n.315A=
c.293A= (p.Gln98=)
2g.27232146A>CCA346211757CADc.2567A>C (p.Gln856Pro)
c.2378A>C (p.Gln793Pro)
n.315A>C
c.293A>C (p.Gln98Pro)
2g.27232146A>GCA346211761CADc.2567A>G (p.Gln856Arg)
c.2378A>G (p.Gln793Arg)
n.315A>G
c.293A>G (p.Gln98Arg)
 dbSNP gnomAD v4
2g.27232146A>TCA346211759CADc.2567A>T (p.Gln856Leu)
c.2378A>T (p.Gln793Leu)
n.315A>T
c.293A>T (p.Gln98Leu)
2g.27232147G>ACA425598694CADc.2568G>A (p.Gln856=)
c.2379G>A (p.Gln793=)
n.316G>A
c.294G>A (p.Gln98=)
2g.27232147G>CCA1573046CADc.2568G>C (p.Gln856His)
c.2379G>C (p.Gln793His)
n.316G>C
c.294G>C (p.Gln98His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232147G=CA1240180308CADc.2568G= (p.Gln856=)
c.2379G= (p.Gln793=)
n.316G=
c.294G= (p.Gln98=)
2g.27232147G>TCA346211765CADc.2568G>T (p.Gln856His)
c.2379G>T (p.Gln793His)
n.316G>T
c.294G>T (p.Gln98His)
2g.27232148C>ACA346211766CADc.2569C>A (p.Pro857Thr)
c.2380C>A (p.Pro794Thr)
n.317C>A
c.295C>A (p.Pro99Thr)
2g.27232148C>GCA346211767CADc.2569C>G (p.Pro857Ala)
c.2380C>G (p.Pro794Ala)
n.317C>G
c.295C>G (p.Pro99Ala)
2g.27232148C>TCA346211769CADc.2569C>T (p.Pro857Ser)
c.2380C>T (p.Pro794Ser)
n.317C>T
c.295C>T (p.Pro99Ser)
2g.27232149C>ACA346211771CADc.2570C>A (p.Pro857His)
c.2381C>A (p.Pro794His)
n.318C>A
c.296C>A (p.Pro99His)
2g.27232149C>GCA346211772CADc.2570C>G (p.Pro857Arg)
c.2381C>G (p.Pro794Arg)
n.318C>G
c.296C>G (p.Pro99Arg)
2g.27232149C>TCA346211775CADc.2570C>T (p.Pro857Leu)
c.2381C>T (p.Pro794Leu)
n.318C>T
c.296C>T (p.Pro99Leu)
2g.27232150T>ACA425598696CADc.2571T>A (p.Pro857=)
c.2382T>A (p.Pro794=)
n.319T>A
c.297T>A (p.Pro99=)
2g.27232150T>CCA425598697CADc.2571T>C (p.Pro857=)
c.2382T>C (p.Pro794=)
n.319T>C
c.297T>C (p.Pro99=)
2g.27232150T>GCA425598698CADc.2571T>G (p.Pro857=)
c.2382T>G (p.Pro794=)
n.319T>G
c.297T>G (p.Pro99=)
2g.27232151T>ACA346211778CADc.2572T>A (p.Leu858Met)
c.2383T>A (p.Leu795Met)
n.320T>A
c.298T>A (p.Leu100Met)
2g.27232151T>CCA425598699CADc.2572T>C (p.Leu858=)
c.2383T>C (p.Leu795=)
n.320T>C
c.298T>C (p.Leu100=)
2g.27232151T>GCA346211781CADc.2572T>G (p.Leu858Val)
c.2383T>G (p.Leu795Val)
n.320T>G
c.298T>G (p.Leu100Val)
2g.27232152T>ACA346211784CADc.2573T>A (p.Leu858Ter)
c.2384T>A (p.Leu795Ter)
n.321T>A
c.299T>A (p.Leu100Ter)
2g.27232152T>CCA346211786CADc.2573T>C (p.Leu858Ser)
c.2384T>C (p.Leu795Ser)
n.321T>C
c.299T>C (p.Leu100Ser)
 gnomAD v4
2g.27232152T>GCA346211783CADc.2573T>G (p.Leu858Trp)
c.2384T>G (p.Leu795Trp)
n.321T>G
c.299T>G (p.Leu100Trp)
2g.27232153G>ACA425598703CADc.2574G>A (p.Leu858=)
c.2385G>A (p.Leu795=)
n.322G>A
c.300G>A (p.Leu100=)
2g.27232153G>CCA1573047CADc.2574G>C (p.Leu858Phe)
c.2385G>C (p.Leu795Phe)
n.322G>C
c.300G>C (p.Leu100Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232153G=CA1240180309CADc.2574G= (p.Leu858=)
c.2385G= (p.Leu795=)
n.322G=
c.300G= (p.Leu100=)
2g.27232153G>TCA346211790CADc.2574G>T (p.Leu858Phe)
c.2385G>T (p.Leu795Phe)
n.322G>T
c.300G>T (p.Leu100Phe)
2g.27232154C>ACA346211793CADc.2575C>A (p.Pro859Thr)
c.2386C>A (p.Pro796Thr)
n.323C>A
c.301C>A (p.Pro101Thr)
2g.27232154C=CA1240180310CADc.2575C= (p.Pro859=)
c.2386C= (p.Pro796=)
n.323C=
c.301C= (p.Pro101=)
2g.27232154C>GCA346211796CADc.2575C>G (p.Pro859Ala)
c.2386C>G (p.Pro796Ala)
n.323C>G
c.301C>G (p.Pro101Ala)
2g.27232154C>TCA346211797CADc.2575C>T (p.Pro859Ser)
c.2386C>T (p.Pro796Ser)
n.323C>T
c.301C>T (p.Pro101Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.27232155C>ACA346211800CADc.2576C>A (p.Pro859Gln)
c.2387C>A (p.Pro796Gln)
n.324C>A
c.302C>A (p.Pro101Gln)
2g.27232155C=CA1240180311CADc.2576C= (p.Pro859=)
c.2387C= (p.Pro796=)
n.324C=
c.302C= (p.Pro101=)
2g.27232155C>GCA346211803CADc.2576C>G (p.Pro859Arg)
c.2387C>G (p.Pro796Arg)
n.324C>G
c.302C>G (p.Pro101Arg)
2g.27232155C>TCA1573048CADc.2576C>T (p.Pro859Leu)
c.2387C>T (p.Pro796Leu)
n.324C>T
c.302C>T (p.Pro101Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.27232156G>ACA1573049CADc.2577G>A (p.Pro859=)
c.2388G>A (p.Pro796=)
n.325G>A
c.303G>A (p.Pro101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232156G>CCA425598707CADc.2577G>C (p.Pro859=)
c.2388G>C (p.Pro796=)
n.325G>C
c.303G>C (p.Pro101=)
2g.27232156G=CA1240180312CADc.2577G= (p.Pro859=)
c.2388G= (p.Pro796=)
n.325G=
c.303G= (p.Pro101=)
2g.27232156G>TCA425598708CADc.2577G>T (p.Pro859=)
c.2388G>T (p.Pro796=)
n.325G>T
c.303G>T (p.Pro101=)
 gnomAD v4
2g.27232157C>ACA346211809CADc.2578C>A (p.Pro860Thr)
c.2389C>A (p.Pro797Thr)
n.326C>A
c.304C>A (p.Pro102Thr)
2g.27232157C>GCA346211812CADc.2578C>G (p.Pro860Ala)
c.2389C>G (p.Pro797Ala)
n.326C>G
c.304C>G (p.Pro102Ala)
2g.27232157C>TCA346211814CADc.2578C>T (p.Pro860Ser)
c.2389C>T (p.Pro797Ser)
n.326C>T
c.304C>T (p.Pro102Ser)
2g.27232158C>ACA346211819CADc.2579C>A (p.Pro860Gln)
c.2390C>A (p.Pro797Gln)
n.327C>A
c.305C>A (p.Pro102Gln)
2g.27232158C=CA1240180313CADc.2579C= (p.Pro860=)
c.2390C= (p.Pro797=)
n.327C=
c.305C= (p.Pro102=)
2g.27232158C>GCA346211822CADc.2579C>G (p.Pro860Arg)
c.2390C>G (p.Pro797Arg)
n.327C>G
c.305C>G (p.Pro102Arg)
2g.27232158C>TCA44507245CADc.2579C>T (p.Pro860Leu)
c.2390C>T (p.Pro797Leu)
n.327C>T
c.305C>T (p.Pro102Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.27232159A>CCA425598712CADc.2580A>C (p.Pro860=)
c.2391A>C (p.Pro797=)
n.328A>C
c.306A>C (p.Pro102=)
 gnomAD v4
2g.27232159A>GCA425598713CADc.2580A>G (p.Pro860=)
c.2391A>G (p.Pro797=)
n.328A>G
c.306A>G (p.Pro102=)
2g.27232159A>TCA425598714CADc.2580A>T (p.Pro860=)
c.2391A>T (p.Pro797=)
n.328A>T
c.306A>T (p.Pro102=)
2g.27232160G>ACA346211824CADc.2581G>A (p.Asp861Asn)
c.2392G>A (p.Asp798Asn)
n.329G>A
c.307G>A (p.Asp103Asn)
2g.27232160G>CCA346211826CADc.2581G>C (p.Asp861His)
c.2392G>C (p.Asp798His)
n.329G>C
c.307G>C (p.Asp103His)
 dbSNP gnomAD v3 gnomAD v4
2g.27232160G=CA1240180314CADc.2581G= (p.Asp861=)
c.2392G= (p.Asp798=)
n.329G=
c.307G= (p.Asp103=)
2g.27232160G>TCA346211829CADc.2581G>T (p.Asp861Tyr)
c.2392G>T (p.Asp798Tyr)
n.329G>T
c.307G>T (p.Asp103Tyr)
 gnomAD v4
2g.27232161A>CCA346211831CADc.2582A>C (p.Asp861Ala)
c.2393A>C (p.Asp798Ala)
n.330A>C
c.308A>C (p.Asp103Ala)
2g.27232161A>GCA346211834CADc.2582A>G (p.Asp861Gly)
c.2393A>G (p.Asp798Gly)
n.330A>G
c.308A>G (p.Asp103Gly)
 gnomAD v4
2g.27232161A>TCA346211837CADc.2582A>T (p.Asp861Val)
c.2393A>T (p.Asp798Val)
n.330A>T
c.308A>T (p.Asp103Val)
2g.27232162C>ACA346211840CADc.2583C>A (p.Asp861Glu)
c.2394C>A (p.Asp798Glu)
n.331C>A
c.309C>A (p.Asp103Glu)
2g.27232162C>GCA346211842CADc.2583C>G (p.Asp861Glu)
c.2394C>G (p.Asp798Glu)
n.331C>G
c.309C>G (p.Asp103Glu)
2g.27232162C>TCA425598717CADc.2583C>T (p.Asp861=)
c.2394C>T (p.Asp798=)
n.331C>T
c.309C>T (p.Asp103=)
 gnomAD v4
2g.27232163C>ACA346211845CADc.2584C>A (p.Leu862Met)
c.2395C>A (p.Leu799Met)
n.332C>A
c.310C>A (p.Leu104Met)
2g.27232163C>GCA346211851CADc.2584C>G (p.Leu862Val)
c.2395C>G (p.Leu799Val)
n.332C>G
c.310C>G (p.Leu104Val)
2g.27232163C>TCA425598719CADc.2584C>T (p.Leu862=)
c.2395C>T (p.Leu799=)
n.332C>T
c.310C>T (p.Leu104=)
2g.27232164T>ACA346211854CADc.2585T>A (p.Leu862Gln)
c.2396T>A (p.Leu799Gln)
n.333T>A
c.311T>A (p.Leu104Gln)
2g.27232164T>CCA346211856CADc.2585T>C (p.Leu862Pro)
c.2396T>C (p.Leu799Pro)
n.333T>C
c.311T>C (p.Leu104Pro)
2g.27232164T>GCA346211858CADc.2585T>G (p.Leu862Arg)
c.2396T>G (p.Leu799Arg)
n.333T>G
c.311T>G (p.Leu104Arg)
2g.27232165G>ACA1573050CADc.2586G>A (p.Leu862=)
c.2397G>A (p.Leu799=)
n.334G>A
c.312G>A (p.Leu104=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232165G>CCA425598721CADc.2586G>C (p.Leu862=)
c.2397G>C (p.Leu799=)
n.334G>C
c.312G>C (p.Leu104=)
2g.27232165G=CA1240180315CADc.2586G= (p.Leu862=)
c.2397G= (p.Leu799=)
n.334G=
c.312G= (p.Leu104=)
2g.27232165G>TCA425598722CADc.2586G>T (p.Leu862=)
c.2397G>T (p.Leu799=)
n.334G>T
c.312G>T (p.Leu104=)
2g.27232166C>ACA346211864CADc.2587C>A (p.Leu863Met)
c.2398C>A (p.Leu800Met)
n.335C>A
c.313C>A (p.Leu105Met)
2g.27232166C>GCA346211862CADc.2587C>G (p.Leu863Val)
c.2398C>G (p.Leu800Val)
n.335C>G
c.313C>G (p.Leu105Val)
2g.27232166C>TCA425598728CADc.2587C>T (p.Leu863=)
c.2398C>T (p.Leu800=)
n.335C>T
c.313C>T (p.Leu105=)
 ClinVar
2g.27232167T>ACA346211866CADc.2588T>A (p.Leu863Gln)
c.2399T>A (p.Leu800Gln)
n.336T>A
c.314T>A (p.Leu105Gln)
2g.27232167T>CCA44507272CADc.2588T>C (p.Leu863Pro)
c.2399T>C (p.Leu800Pro)
n.336T>C
c.314T>C (p.Leu105Pro)
 dbSNP
2g.27232167T>GCA346211870CADc.2588T>G (p.Leu863Arg)
c.2399T>G (p.Leu800Arg)
n.336T>G
c.314T>G (p.Leu105Arg)
2g.27232167T=CA1240180316CADc.2588T= (p.Leu863=)
c.2399T= (p.Leu800=)
n.336T=
c.314T= (p.Leu105=)
2g.27232168G>ACA425598733CADc.2589G>A (p.Leu863=)
c.2400G>A (p.Leu800=)
n.337G>A
c.315G>A (p.Leu105=)
2g.27232168G>CCA425598730CADc.2589G>C (p.Leu863=)
c.2400G>C (p.Leu800=)
n.337G>C
c.315G>C (p.Leu105=)
2g.27232168G=CA1240180317CADc.2589G= (p.Leu863=)
c.2400G= (p.Leu800=)
n.337G=
c.315G= (p.Leu105=)
2g.27232168G>TCA425598731CADc.2589G>T (p.Leu863=)
c.2400G>T (p.Leu800=)
n.337G>T
c.315G>T (p.Leu105=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232169C>ACA346211875CADc.2590C>A (p.Gln864Lys)
c.2401C>A (p.Gln801Lys)
n.338C>A
c.316C>A (p.Gln106Lys)
2g.27232169C>GCA346211877CADc.2590C>G (p.Gln864Glu)
c.2401C>G (p.Gln801Glu)
n.338C>G
c.316C>G (p.Gln106Glu)
2g.27232169C>TCA346211879CADc.2590C>T (p.Gln864Ter)
c.2401C>T (p.Gln801Ter)
n.338C>T
c.316C>T (p.Gln106Ter)
2g.27232170A>CCA346211882CADc.2591A>C (p.Gln864Pro)
c.2402A>C (p.Gln801Pro)
n.339A>C
c.317A>C (p.Gln106Pro)
2g.27232170A>GCA346211885CADc.2591A>G (p.Gln864Arg)
c.2402A>G (p.Gln801Arg)
n.339A>G
c.317A>G (p.Gln106Arg)
2g.27232170A>TCA346211888CADc.2591A>T (p.Gln864Leu)
c.2402A>T (p.Gln801Leu)
n.339A>T
c.317A>T (p.Gln106Leu)
2g.27232171A>CCA346211891CADc.2592A>C (p.Gln864His)
c.2403A>C (p.Gln801His)
n.340A>C
c.318A>C (p.Gln106His)
2g.27232171A>GCA425598738CADc.2592A>G (p.Gln864=)
c.2403A>G (p.Gln801=)
n.340A>G
c.318A>G (p.Gln106=)
2g.27232171A>TCA346211894CADc.2592A>T (p.Gln864His)
c.2403A>T (p.Gln801His)
n.340A>T
c.318A>T (p.Gln106His)
2g.27232172C>ACA346211897CADc.2593C>A (p.Gln865Lys)
c.2404C>A (p.Gln802Lys)
n.341C>A
c.319C>A (p.Gln107Lys)
2g.27232172C>GCA346211900CADc.2593C>G (p.Gln865Glu)
c.2404C>G (p.Gln802Glu)
n.341C>G
c.319C>G (p.Gln107Glu)
2g.27232172C>TCA346211902CADc.2593C>T (p.Gln865Ter)
c.2404C>T (p.Gln802Ter)
n.341C>T
c.319C>T (p.Gln107Ter)
2g.27232173A=CA1240180318CADc.2594A= (p.Gln865=)
c.2405A= (p.Gln802=)
n.342A=
c.320A= (p.Gln107=)
2g.27232173A>CCA346211905CADc.2594A>C (p.Gln865Pro)
c.2405A>C (p.Gln802Pro)
n.342A>C
c.320A>C (p.Gln107Pro)
2g.27232173A>GCA44507280CADc.2594A>G (p.Gln865Arg)
c.2405A>G (p.Gln802Arg)
n.342A>G
c.320A>G (p.Gln107Arg)
 dbSNP
2g.27232173A>TCA346211908CADc.2594A>T (p.Gln865Leu)
c.2405A>T (p.Gln802Leu)
n.342A>T
c.320A>T (p.Gln107Leu)
 gnomAD v4
2g.27232174G>ACA425598741CADc.2595G>A (p.Gln865=)
c.2406G>A (p.Gln802=)
n.343G>A
c.321G>A (p.Gln107=)
 gnomAD v4
2g.27232174G>CCA346211911CADc.2595G>C (p.Gln865His)
c.2406G>C (p.Gln802His)
n.343G>C
c.321G>C (p.Gln107His)
2g.27232174G>TCA346211913CADc.2595G>T (p.Gln865His)
c.2406G>T (p.Gln802His)
n.343G>T
c.321G>T (p.Gln107His)
2g.27232175G>ACA346211916CADc.2596G>A (p.Ala866Thr)
c.2407G>A (p.Ala803Thr)
n.344G>A
c.322G>A (p.Ala108Thr)
2g.27232175G>CCA346211919CADc.2596G>C (p.Ala866Pro)
c.2407G>C (p.Ala803Pro)
n.344G>C
c.322G>C (p.Ala108Pro)
2g.27232175G=CA1240180319CADc.2596G= (p.Ala866=)
c.2407G= (p.Ala803=)
n.344G=
c.322G= (p.Ala108=)
2g.27232175G>TCA346211920CADc.2596G>T (p.Ala866Ser)
c.2407G>T (p.Ala803Ser)
n.344G>T
c.322G>T (p.Ala108Ser)
 dbSNP
2g.27232176C>ACA346211923CADc.2597C>A (p.Ala866Asp)
c.2408C>A (p.Ala803Asp)
n.345C>A
c.323C>A (p.Ala108Asp)
2g.27232176C>GCA346211926CADc.2597C>G (p.Ala866Gly)
c.2408C>G (p.Ala803Gly)
n.345C>G
c.323C>G (p.Ala108Gly)
 gnomAD v4
2g.27232176C>TCA346211928CADc.2597C>T (p.Ala866Val)
c.2408C>T (p.Ala803Val)
n.345C>T
c.323C>T (p.Ala108Val)
2g.27232177C>ACA425598742CADc.2598C>A (p.Ala866=)
c.2409C>A (p.Ala803=)
n.346C>A
c.324C>A (p.Ala108=)
2g.27232177C>GCA425598743CADc.2598C>G (p.Ala866=)
c.2409C>G (p.Ala803=)
n.346C>G
c.324C>G (p.Ala108=)
2g.27232177C>TCA425598744CADc.2598C>T (p.Ala866=)
c.2409C>T (p.Ala803=)
n.346C>T
c.324C>T (p.Ala108=)
2g.27232178A>CCA346211930CADc.2599A>C (p.Lys867Gln)
c.2410A>C (p.Lys804Gln)
n.347A>C
c.325A>C (p.Lys109Gln)
2g.27232178A>GCA346211932CADc.2599A>G (p.Lys867Glu)
c.2410A>G (p.Lys804Glu)
n.347A>G
c.325A>G (p.Lys109Glu)
2g.27232178A>TCA346211936CADc.2599A>T (p.Lys867Ter)
c.2410A>T (p.Lys804Ter)
n.347A>T
c.325A>T (p.Lys109Ter)
2g.27232179A>CCA346211940CADc.2600A>C (p.Lys867Thr)
c.2411A>C (p.Lys804Thr)
n.348A>C
c.326A>C (p.Lys109Thr)
2g.27232179A>GCA346211943CADc.2600A>G (p.Lys867Arg)
c.2411A>G (p.Lys804Arg)
n.348A>G
c.326A>G (p.Lys109Arg)
 COSMIC
2g.27232179A>TCA346211944CADc.2600A>T (p.Lys867Met)
c.2411A>T (p.Lys804Met)
n.348A>T
c.326A>T (p.Lys109Met)
2g.27232180G>ACA425598748CADc.2601G>A (p.Lys867=)
c.2412G>A (p.Lys804=)
n.349G>A
c.327G>A (p.Lys109=)
2g.27232180G>CCA346211947CADc.2601G>C (p.Lys867Asn)
c.2412G>C (p.Lys804Asn)
n.349G>C
c.327G>C (p.Lys109Asn)
2g.27232180G>TCA346211949CADc.2601G>T (p.Lys867Asn)
c.2412G>T (p.Lys804Asn)
n.349G>T
c.327G>T (p.Lys109Asn)
 gnomAD v4
2g.27232181T>ACA346211950CADc.2602T>A (p.Cys868Ser)
c.2413T>A (p.Cys805Ser)
n.350T>A
c.328T>A (p.Cys110Ser)
2g.27232181T>CCA346211953CADc.2602T>C (p.Cys868Arg)
c.2413T>C (p.Cys805Arg)
n.350T>C
c.328T>C (p.Cys110Arg)
2g.27232181T>GCA346211960CADc.2602T>G (p.Cys868Gly)
c.2413T>G (p.Cys805Gly)
n.350T>G
c.328T>G (p.Cys110Gly)
2g.27232182G>ACA346211965CADc.2603G>A (p.Cys868Tyr)
c.2414G>A (p.Cys805Tyr)
n.351G>A
c.329G>A (p.Cys110Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.27232182G>CCA346211967CADc.2603G>C (p.Cys868Ser)
c.2414G>C (p.Cys805Ser)
n.351G>C
c.329G>C (p.Cys110Ser)
2g.27232182G=CA1240180320CADc.2603G= (p.Cys868=)
c.2414G= (p.Cys805=)
n.351G=
c.329G= (p.Cys110=)
2g.27232182G>TCA346211968CADc.2603G>T (p.Cys868Phe)
c.2414G>T (p.Cys805Phe)
n.351G>T
c.329G>T (p.Cys110Phe)
2g.27232183T>ACA346211974CADc.2604T>A (p.Cys868Ter)
c.2415T>A (p.Cys805Ter)
n.352T>A
c.330T>A (p.Cys110Ter)
2g.27232183T>CCA425598752CADc.2604T>C (p.Cys868=)
c.2415T>C (p.Cys805=)
n.352T>C
c.330T>C (p.Cys110=)
 gnomAD v4
2g.27232183T>GCA346211971CADc.2604T>G (p.Cys868Trp)
c.2415T>G (p.Cys805Trp)
n.352T>G
c.330T>G (p.Cys110Trp)
2g.27232184C>ACA346211977CADc.2605C>A (p.Leu869Ile)
c.2416C>A (p.Leu806Ile)
n.353C>A
c.331C>A (p.Leu111Ile)
2g.27232184C>GCA346211980CADc.2605C>G (p.Leu869Val)
c.2416C>G (p.Leu806Val)
n.353C>G
c.331C>G (p.Leu111Val)
2g.27232184C>TCA346211982CADc.2605C>T (p.Leu869Phe)
c.2416C>T (p.Leu806Phe)
n.353C>T
c.331C>T (p.Leu111Phe)
2g.27232185T>ACA346211984CADc.2606T>A (p.Leu869His)
c.2417T>A (p.Leu806His)
n.354T>A
c.332T>A (p.Leu111His)
2g.27232185T>CCA346211987CADc.2606T>C (p.Leu869Pro)
c.2417T>C (p.Leu806Pro)
n.354T>C
c.332T>C (p.Leu111Pro)
2g.27232185T>GCA346211990CADc.2606T>G (p.Leu869Arg)
c.2417T>G (p.Leu806Arg)
n.354T>G
c.332T>G (p.Leu111Arg)
2g.27232186T>ACA425598756CADc.2607T>A (p.Leu869=)
c.2418T>A (p.Leu806=)
n.355T>A
c.333T>A (p.Leu111=)
 ClinVar dbSNP gnomAD v4
2g.27232186T>CCA425598757CADc.2607T>C (p.Leu869=)
c.2418T>C (p.Leu806=)
n.355T>C
c.333T>C (p.Leu111=)
2g.27232186T>GCA425598758CADc.2607T>G (p.Leu869=)
c.2418T>G (p.Leu806=)
n.355T>G
c.333T>G (p.Leu111=)
2g.27232186T=CA1240180321CADc.2607T= (p.Leu869=)
c.2418T= (p.Leu806=)
n.355T=
c.333T= (p.Leu111=)
2g.27232187G>ACA346211992CADc.2608G>A (p.Gly870Ser)
c.2419G>A (p.Gly807Ser)
n.356G>A
c.334G>A (p.Gly112Ser)
2g.27232187G>CCA346211996CADc.2608G>C (p.Gly870Arg)
c.2419G>C (p.Gly807Arg)
n.356G>C
c.334G>C (p.Gly112Arg)
2g.27232187G>TCA346211994CADc.2608G>T (p.Gly870Cys)
c.2419G>T (p.Gly807Cys)
n.356G>T
c.334G>T (p.Gly112Cys)
2g.27232188G>ACA346211999CADc.2609G>A (p.Gly870Asp)
c.2420G>A (p.Gly807Asp)
n.357G>A
c.335G>A (p.Gly112Asp)
2g.27232188G>CCA346212002CADc.2609G>C (p.Gly870Ala)
c.2420G>C (p.Gly807Ala)
n.357G>C
c.335G>C (p.Gly112Ala)
2g.27232188G>TCA346212004CADc.2609G>T (p.Gly870Val)
c.2420G>T (p.Gly807Val)
n.357G>T
c.335G>T (p.Gly112Val)
2g.27232189C>ACA425598762CADc.2610C>A (p.Gly870=)
c.2421C>A (p.Gly807=)
n.358C>A
c.336C>A (p.Gly112=)
2g.27232189C>GCA425598763CADc.2610C>G (p.Gly870=)
c.2421C>G (p.Gly807=)
n.358C>G
c.336C>G (p.Gly112=)
2g.27232189C>TCA425598764CADc.2610C>T (p.Gly870=)
c.2421C>T (p.Gly807=)
n.358C>T
c.336C>T (p.Gly112=)
2g.27232190T>ACA346212005CADc.2611T>A (p.Phe871Ile)
c.2422T>A (p.Phe808Ile)
n.359T>A
c.337T>A (p.Phe113Ile)
2g.27232190T>CCA346212009CADc.2611T>C (p.Phe871Leu)
c.2422T>C (p.Phe808Leu)
n.359T>C
c.337T>C (p.Phe113Leu)
 ClinVar dbSNP
2g.27232190T>GCA346212013CADc.2611T>G (p.Phe871Val)
c.2422T>G (p.Phe808Val)
n.359T>G
c.337T>G (p.Phe113Val)
2g.27232191T>ACA346212014CADc.2612T>A (p.Phe871Tyr)
c.2423T>A (p.Phe808Tyr)
n.360T>A
c.338T>A (p.Phe113Tyr)
2g.27232191T>CCA346212017CADc.2612T>C (p.Phe871Ser)
c.2423T>C (p.Phe808Ser)
n.360T>C
c.338T>C (p.Phe113Ser)
2g.27232191T>GCA346212021CADc.2612T>G (p.Phe871Cys)
c.2423T>G (p.Phe808Cys)
n.360T>G
c.338T>G (p.Phe113Cys)
2g.27232192C>ACA346212028CADc.2613C>A (p.Phe871Leu)
c.2424C>A (p.Phe808Leu)
n.361C>A
c.339C>A (p.Phe113Leu)
2g.27232192C>GCA346212029CADc.2613C>G (p.Phe871Leu)
c.2424C>G (p.Phe808Leu)
n.361C>G
c.339C>G (p.Phe113Leu)
2g.27232192C>TCA425598766CADc.2613C>T (p.Phe871=)
c.2424C>T (p.Phe808=)
n.361C>T
c.339C>T (p.Phe113=)
2g.27232193T>ACA346212032CADc.2614T>A (p.Ser872Thr)
c.2425T>A (p.Ser809Thr)
n.362T>A
c.340T>A (p.Ser114Thr)
2g.27232193T>CCA346212036CADc.2614T>C (p.Ser872Pro)
c.2425T>C (p.Ser809Pro)
n.362T>C
c.340T>C (p.Ser114Pro)
2g.27232193T>GCA346212034CADc.2614T>G (p.Ser872Ala)
c.2425T>G (p.Ser809Ala)
n.362T>G
c.340T>G (p.Ser114Ala)
2g.27232193_27232197delinsTCAGACA1240180322CADc.2614_2618delinsTCAGA (p.Ser872=)
c.2425_2429delinsTCAGA (p.Ser809=)
n.362_366delinsTCAGA
c.340_344delinsTCAGA (p.Ser114=)
2g.27232194C>ACA346212039CADc.2615C>A (p.Ser872Ter)
c.2426C>A (p.Ser809Ter)
n.363C>A
c.341C>A (p.Ser114Ter)
2g.27232194C>GCA346212044CADc.2615C>G (p.Ser872Ter)
c.2426C>G (p.Ser809Ter)
n.363C>G
c.341C>G (p.Ser114Ter)
2g.27232194C>TCA346212041CADc.2615C>T (p.Ser872Leu)
c.2426C>T (p.Ser809Leu)
n.363C>T
c.341C>T (p.Ser114Leu)
2g.27232196_27232199delCA645293935CADc.2617_2620del (p.Asp873AsnfsTer8)
c.2428_2431del (p.Asp810AsnfsTer8)
n.365_368del
c.343_346del (p.Asp115AsnfsTer8)
 ClinVar dbSNP gnomAD v4
2g.27232195A>CCA425598770CADc.2616A>C (p.Ser872=)
c.2427A>C (p.Ser809=)
n.364A>C
c.342A>C (p.Ser114=)
2g.27232195A>GCA425598771CADc.2616A>G (p.Ser872=)
c.2427A>G (p.Ser809=)
n.364A>G
c.342A>G (p.Ser114=)
2g.27232195A>TCA425598769CADc.2616A>T (p.Ser872=)
c.2427A>T (p.Ser809=)
n.364A>T
c.342A>T (p.Ser114=)
2g.27232196G>ACA346212047CADc.2617G>A (p.Asp873Asn)
c.2428G>A (p.Asp810Asn)
n.365G>A
c.343G>A (p.Asp115Asn)
2g.27232196G>CCA346212049CADc.2617G>C (p.Asp873His)
c.2428G>C (p.Asp810His)
n.365G>C
c.343G>C (p.Asp115His)
2g.27232196G>TCA346212052CADc.2617G>T (p.Asp873Tyr)
c.2428G>T (p.Asp810Tyr)
n.365G>T
c.343G>T (p.Asp115Tyr)
2g.27232197A>CCA346212056CADc.2618A>C (p.Asp873Ala)
c.2429A>C (p.Asp810Ala)
n.366A>C
c.344A>C (p.Asp115Ala)
2g.27232197A>GCA346212057CADc.2618A>G (p.Asp873Gly)
c.2429A>G (p.Asp810Gly)
n.366A>G
c.344A>G (p.Asp115Gly)
2g.27232197A>TCA346212059CADc.2618A>T (p.Asp873Val)
c.2429A>T (p.Asp810Val)
n.366A>T
c.344A>T (p.Asp115Val)
2g.27232200_27232203delCA2576939083CADc.2621_2624del (p.Lys874ArgfsTer7)
c.2432_2435del (p.Lys811ArgfsTer7)
n.369_372del
c.347_350del (p.Lys116ArgfsTer7)
2g.27232198C>ACA346212062CADc.2619C>A (p.Asp873Glu)
c.2430C>A (p.Asp810Glu)
n.367C>A
c.345C>A (p.Asp115Glu)
2g.27232198C=CA1240180323CADc.2619C= (p.Asp873=)
c.2430C= (p.Asp810=)
n.367C=
c.345C= (p.Asp115=)
2g.27232198C>GCA346212065CADc.2619C>G (p.Asp873Glu)
c.2430C>G (p.Asp810Glu)
n.367C>G
c.345C>G (p.Asp115Glu)
2g.27232198C>TCA1573051CADc.2619C>T (p.Asp873=)
c.2430C>T (p.Asp810=)
n.367C>T
c.345C>T (p.Asp115=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232199A>CCA346212071CADc.2620A>C (p.Lys874Gln)
c.2431A>C (p.Lys811Gln)
n.368A>C
c.346A>C (p.Lys116Gln)
2g.27232199A>GCA346212074CADc.2620A>G (p.Lys874Glu)
c.2431A>G (p.Lys811Glu)
n.368A>G
c.346A>G (p.Lys116Glu)
2g.27232199A>TCA346212077CADc.2620A>T (p.Lys874Ter)
c.2431A>T (p.Lys811Ter)
n.368A>T
c.346A>T (p.Lys116Ter)
2g.27232199_27232200insTCA2658308775CADc.2620_2621insT (p.Lys874IlefsTer?)
c.2431_2432insT (p.Lys811IlefsTer?)
n.368_369insT
c.346_347insT (p.Lys116IlefsTer?)
 gnomAD v4
2g.27232200A=CA1240180324CADc.2621A= (p.Lys874=)
c.2432A= (p.Lys811=)
n.369A=
c.347A= (p.Lys116=)
2g.27232200A>CCA346212085CADc.2621A>C (p.Lys874Thr)
c.2432A>C (p.Lys811Thr)
n.369A>C
c.347A>C (p.Lys116Thr)
2g.27232200A>GCA44507290CADc.2621A>G (p.Lys874Arg)
c.2432A>G (p.Lys811Arg)
n.369A>G
c.347A>G (p.Lys116Arg)
 dbSNP
2g.27232200A>TCA346212080CADc.2621A>T (p.Lys874Ile)
c.2432A>T (p.Lys811Ile)
n.369A>T
c.347A>T (p.Lys116Ile)
2g.27232201A>CCA346212088CADc.2622A>C (p.Lys874Asn)
c.2433A>C (p.Lys811Asn)
n.370A>C
c.348A>C (p.Lys116Asn)
2g.27232201A>GCA425598774CADc.2622A>G (p.Lys874=)
c.2433A>G (p.Lys811=)
n.370A>G
c.348A>G (p.Lys116=)
2g.27232201A>TCA346212090CADc.2622A>T (p.Lys874Asn)
c.2433A>T (p.Lys811Asn)
n.370A>T
c.348A>T (p.Lys116Asn)

Number of alleles fetched