Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919199_89919222delCA2576103936MC1Rc.-60_-37del (n.-60_-37del)
gnomAD v4
16g.89919217_89919220delinsTGGACA2242006075MC1Rc.-42_-39delinsTGGA (n.-42_-39delinsTGGA)
16g.89919219_89919222dupCA2635064205MC1Rc.-40_-37dup (n.-40_-37dup)
gnomAD v4
16g.89919220_89919222delCA624455559MC1Rc.-39_-37del (n.-39_-37del)
dbSNP gnomAD v2 gnomAD v4
16g.89919219G>ACA497190027MC1Rc.-40G>A (n.-40G>A)
16g.89919219G>CCA497190030MC1Rc.-40G>C (n.-40G>C)
dbSNP gnomAD v2 gnomAD v4
16g.89919219G=CA2242006077MC1Rc.-40G= (n.-40G=)
16g.89919219G>TCA497190029MC1Rc.-40G>T (n.-40G>T)
16g.89919220A>CCA497190031MC1Rc.-39A>C (n.-39A>C)
gnomAD v4
16g.89919220A>GCA497190032MC1Rc.-39A>G (n.-39A>G)
gnomAD v4
16g.89919220A>TCA497190033MC1Rc.-39A>T (n.-39A>T)
gnomAD v4
16g.89919221G>ACA497190034MC1Rc.-38G>A (n.-38G>A)
dbSNP gnomAD v4
16g.89919221G>CCA497190035MC1Rc.-38G>C (n.-38G>C)
16g.89919221G=CA2242006078MC1Rc.-38G= (n.-38G=)
16g.89919221G>TCA497190036MC1Rc.-38G>T (n.-38G>T)
dbSNP gnomAD v4
16g.89919222delCA2635064222MC1Rc.-37del (n.-37del)
gnomAD v4
16g.89919222G>ACA497190038MC1Rc.-37G>A (n.-37G>A)
dbSNP gnomAD v2 gnomAD v4
16g.89919222G>CCA497190040MC1Rc.-37G>C (n.-37G>C)
dbSNP gnomAD v4
16g.89919222G=CA2242006080MC1Rc.-37G= (n.-37G=)
16g.89919222G>TCA497190041MC1Rc.-37G>T (n.-37G>T)
gnomAD v4
16g.89919223C>ACA497190043MC1Rc.-36C>A (n.-36C>A)
dbSNP gnomAD v2 gnomAD v4
16g.89919223C=CA2242006081MC1Rc.-36C= (n.-36C=)
16g.89919223C>GCA497190044MC1Rc.-36C>G (n.-36C>G)
16g.89919223C>TCA497190045MC1Rc.-36C>T (n.-36C>T)
dbSNP gnomAD v2 gnomAD v4
16g.89919224C>ACA497190046MC1Rc.-35C>A (n.-35C>A)
dbSNP gnomAD v2 gnomAD v4
16g.89919224C=CA2242006083MC1Rc.-35C= (n.-35C=)
16g.89919224C>GCA497190047MC1Rc.-35C>G (n.-35C>G)
16g.89919224C>TCA8255450MC1Rc.-35C>T (n.-35C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919225T>ACA497190048MC1Rc.-34T>A (n.-34T>A)
16g.89919225T>CCA497190050MC1Rc.-34T>C (n.-34T>C)
gnomAD v4
16g.89919225T>GCA497190052MC1Rc.-34T>G (n.-34T>G)
16g.89919225T=CA2242006084MC1Rc.-34T= (n.-34T=)
16g.89919226C>ACA497190054MC1Rc.-33C>A (n.-33C>A)
gnomAD v4
16g.89919226C>GCA497190055MC1Rc.-33C>G (n.-33C>G)
16g.89919226C>TCA497190056MC1Rc.-33C>T (n.-33C>T)
gnomAD v4
16g.89919227dupCA8255451MC1Rc.-32dup (n.-32dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919226_89919229delinsCCAACA2242006091MC1Rc.-33_-30delinsCCAA (n.-33_-30delinsCCAA)
16g.89919227C>ACA497190057MC1Rc.-32C>A (n.-32C>A)
gnomAD v4
16g.89919227C>GCA497190058MC1Rc.-32C>G (n.-32C>G)
16g.89919227C>TCA497190059MC1Rc.-32C>T (n.-32C>T)
gnomAD v4
16g.89919228_89919230delCA286607306MC1Rc.-31_-29del (n.-31_-29del)
dbSNP gnomAD v2 gnomAD v4
16g.89919228A=CA2242006092MC1Rc.-31A= (n.-31A=)
16g.89919228A>CCA497380344MC1Rc.-31A>C (n.-31A>C)
16g.89919228A>GCA497380346MC1Rc.-31A>G (n.-31A>G)
dbSNP
16g.89919228A>TCA497380351MC1Rc.-31A>T (n.-31A>T)
16g.89919229A=CA2242006093MC1Rc.-30A= (n.-30A=)
16g.89919229A>CCA497380354MC1Rc.-30A>C (n.-30A>C)
gnomAD v4
16g.89919229A>GCA497380352MC1Rc.-30A>G (n.-30A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919229A>TCA497380353MC1Rc.-30A>T (n.-30A>T)
dbSNP gnomAD v2 gnomAD v4
16g.89919230C>ACA497380356MC1Rc.-29C>A (n.-29C>A)
gnomAD v4
16g.89919230C=CA2242006096MC1Rc.-29C= (n.-29C=)
16g.89919230C>GCA497380358MC1Rc.-29C>G (n.-29C>G)
gnomAD v4
16g.89919230C>TCA8255452MC1Rc.-29C>T (n.-29C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919231G>ACA8255453MC1Rc.-28G>A (n.-28G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919231G>CCA497380360MC1Rc.-28G>C (n.-28G>C)
16g.89919231G=CA2242006097MC1Rc.-28G= (n.-28G=)
16g.89919231G>TCA497380363MC1Rc.-28G>T (n.-28G>T)
gnomAD v4
16g.89919231_89919237dupCA2635064335MC1Rc.-28_-22dup (n.-28_-22dup)
gnomAD v4
16g.89919232A=CA2242006099MC1Rc.-27A= (n.-27A=)
16g.89919232A>CCA497380365MC1Rc.-27A>C (n.-27A>C)
16g.89919232A>GCA497380366MC1Rc.-27A>G (n.-27A>G)
dbSNP gnomAD v2 gnomAD v4
16g.89919232A>TCA497380367MC1Rc.-27A>T (n.-27A>T)
16g.89919233C>ACA497380368MC1Rc.-26C>A (n.-26C>A)
16g.89919233C=CA2242006100MC1Rc.-26C= (n.-26C=)
16g.89919233C>GCA497380369MC1Rc.-26C>G (n.-26C>G)
16g.89919233C>TCA286607310MC1Rc.-26C>T (n.-26C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919234T>ACA497380372MC1Rc.-25T>A (n.-25T>A)
16g.89919234T>CCA8255454MC1Rc.-25T>C (n.-25T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919234T>GCA497380371MC1Rc.-25T>G (n.-25T>G)
16g.89919234T=CA2242006102MC1Rc.-25T= (n.-25T=)
16g.89919235C>ACA497380373MC1Rc.-24C>A (n.-24C>A)
gnomAD v4
16g.89919235C=CA2242006105MC1Rc.-24C= (n.-24C=)
16g.89919235C>GCA497380374MC1Rc.-24C>G (n.-24C>G)
gnomAD v4
16g.89919235C>TCA8255455MC1Rc.-24C>T (n.-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919236C>ACA497380375MC1Rc.-23C>A (n.-23C>A)
gnomAD v4
16g.89919236C=CA2242006107MC1Rc.-23C= (n.-23C=)
16g.89919236C>GCA497380376MC1Rc.-23C>G (n.-23C>G)
16g.89919236C>TCA497380377MC1Rc.-23C>T (n.-23C>T)
dbSNP gnomAD v4
16g.89919237T>ACA497380380MC1Rc.-22T>A (n.-22T>A)
16g.89919237T>CCA497380381MC1Rc.-22T>C (n.-22T>C)
16g.89919237T>GCA497380383MC1Rc.-22T>G (n.-22T>G)
16g.89919238T>ACA497380384MC1Rc.-21T>A (n.-21T>A)
16g.89919238T>CCA497380386MC1Rc.-21T>C (n.-21T>C)
16g.89919238T>GCA497380387MC1Rc.-21T>G (n.-21T>G)
16g.89919239C>ACA497380388MC1Rc.-20C>A (n.-20C>A)
16g.89919239C=CA2242009245MC1Rc.-20C= (n.-20C=)
16g.89919239C>GCA497380389MC1Rc.-20C>G (n.-20C>G)
gnomAD v4
16g.89919239C>TCA497380390MC1Rc.-20C>T (n.-20C>T)
dbSNP gnomAD v4
16g.89919240C>ACA497380392MC1Rc.-19C>A (n.-19C>A)
gnomAD v4
16g.89919240C=CA2242009246MC1Rc.-19C= (n.-19C=)
16g.89919240C>GCA8255456MC1Rc.-19C>G (n.-19C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919240C>TCA497380391MC1Rc.-19C>T (n.-19C>T)
gnomAD v4
16g.89919241T>ACA497380393MC1Rc.-18T>A (n.-18T>A)
16g.89919241T>CCA497380395MC1Rc.-18T>C (n.-18T>C)
gnomAD v4
16g.89919241T>GCA497380396MC1Rc.-18T>G (n.-18T>G)
16g.89919242G>ACA497380397MC1Rc.-17G>A (n.-17G>A)
gnomAD v4
16g.89919242G>CCA497380400MC1Rc.-17G>C (n.-17G>C)
16g.89919242G>TCA497380402MC1Rc.-17G>T (n.-17G>T)
gnomAD v4
16g.89919243C>ACA497380403MC1Rc.-16C>A (n.-16C>A)
gnomAD v4
16g.89919243C>GCA497380404MC1Rc.-16C>G (n.-16C>G)
16g.89919243C>TCA497380405MC1Rc.-16C>T (n.-16C>T)
gnomAD v4
16g.89919244T>ACA497380406MC1Rc.-15T>A (n.-15T>A)
16g.89919244T>CCA497380408MC1Rc.-15T>C (n.-15T>C)
gnomAD v4
16g.89919244T>GCA497380409MC1Rc.-15T>G (n.-15T>G)
dbSNP gnomAD v2 gnomAD v4
16g.89919244T=CA2242009247MC1Rc.-15T= (n.-15T=)
16g.89919245T>ACA497380414MC1Rc.-14T>A (n.-14T>A)
16g.89919245T>CCA497380413MC1Rc.-14T>C (n.-14T>C)
gnomAD v4
16g.89919245T>GCA497380411MC1Rc.-14T>G (n.-14T>G)
16g.89919245_89919275delinsTCCTGGACAGGACTATGGCTGTGCAGGGATCCA2242009248MC1Rc.-14_17delinsTCCTGGACAGGACTATGGCTGTGCAGGGATC
16g.89919246C>ACA497380417MC1Rc.-13C>A (n.-13C>A)
16g.89919246C=CA2242009249MC1Rc.-13C= (n.-13C=)
16g.89919246C>GCA497380416MC1Rc.-13C>G (n.-13C>G)
16g.89919246C>TCA8255457MC1Rc.-13C>T (n.-13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919248_89919277delCA624455296MC1Rc.-11_19del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919247C>ACA497380418MC1Rc.-12C>A (n.-12C>A)
gnomAD v4
16g.89919247C=CA2242009250MC1Rc.-12C= (n.-12C=)
16g.89919247C>GCA497380420MC1Rc.-12C>G (n.-12C>G)
dbSNP gnomAD v3 gnomAD v4
16g.89919247C>TCA497380421MC1Rc.-12C>T (n.-12C>T)
16g.89919248T>ACA497380424MC1Rc.-11T>A (n.-11T>A)
16g.89919248T>CCA497380423MC1Rc.-11T>C (n.-11T>C)
gnomAD v4
16g.89919248T>GCA497380422MC1Rc.-11T>G (n.-11T>G)
16g.89919249G>ACA497380426MC1Rc.-10G>A (n.-10G>A)
gnomAD v4
16g.89919249G>CCA497380427MC1Rc.-10G>C (n.-10G>C)
16g.89919249G>TCA497380428MC1Rc.-10G>T (n.-10G>T)
gnomAD v4
16g.89919250delCA2576103971MC1Rc.-9del (n.-9del)
16g.89919250G>ACA497380429MC1Rc.-9G>A (n.-9G>A)
dbSNP gnomAD v4
16g.89919250G>CCA497380430MC1Rc.-9G>C (n.-9G>C)
16g.89919250G=CA2242009251MC1Rc.-9G= (n.-9G=)
16g.89919250G>TCA497380431MC1Rc.-9G>T (n.-9G>T)
gnomAD v4
16g.89919251A=CA2242009252MC1Rc.-8A= (n.-8A=)
16g.89919251A>CCA497380432MC1Rc.-8A>C (n.-8A>C)
16g.89919251A>GCA497380435MC1Rc.-8A>G (n.-8A>G)
dbSNP
16g.89919251A>TCA497380433MC1Rc.-8A>T (n.-8A>T)
dbSNP COSMIC COSMIC COSMIC
16g.89919252C>ACA497380437MC1Rc.-7C>A (n.-7C>A)
16g.89919252C=CA2242009253MC1Rc.-7C= (n.-7C=)
16g.89919252C>GCA497380439MC1Rc.-7C>G (n.-7C>G)
16g.89919252C>TCA497380440MC1Rc.-7C>T (n.-7C>T)
dbSNP
16g.89919253A=CA2242009254MC1Rc.-6A= (n.-6A=)
16g.89919253A>CCA497380441MC1Rc.-6A>C (n.-6A>C)
gnomAD v4
16g.89919253A>GCA497380442MC1Rc.-6A>G (n.-6A>G)
dbSNP gnomAD v2 gnomAD v4
16g.89919253A>TCA497380444MC1Rc.-6A>T (n.-6A>T)
16g.89919254G>ACA497380446MC1Rc.-5G>A (n.-5G>A)
dbSNP gnomAD v3 gnomAD v4
16g.89919254G>CCA497380447MC1Rc.-5G>C (n.-5G>C)
16g.89919254G=CA2242009255MC1Rc.-5G= (n.-5G=)
16g.89919254G>TCA497380448MC1Rc.-5G>T (n.-5G>T)
gnomAD v4
16g.89919255G>ACA497380449MC1Rc.-4G>A (n.-4G>A)
16g.89919255G>CCA497380451MC1Rc.-4G>C (n.-4G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919255G=CA2242009256MC1Rc.-4G= (n.-4G=)
16g.89919255G>TCA497380453MC1Rc.-4G>T (n.-4G>T)
gnomAD v4
16g.89919256_89919261delCA2576103976MC1Rc.-3_3del
gnomAD v4
16g.89919256A>CCA497380455MC1Rc.-3A>C (n.-3A>C)
gnomAD v4
16g.89919256A>GCA497380456MC1Rc.-3A>G (n.-3A>G)
gnomAD v4
16g.89919256A>TCA497380454MC1Rc.-3A>T (n.-3A>T)
16g.89919257C>ACA497380457MC1Rc.-2C>A (n.-2C>A)
16g.89919257C=CA2242009257MC1Rc.-2C= (n.-2C=)
16g.89919257C>GCA497380458MC1Rc.-2C>G (n.-2C>G)
gnomAD v4
16g.89919257C>TCA8255458MC1Rc.-2C>T (n.-2C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919258T>ACA497380459MC1Rc.-1T>A (n.-1T>A)
16g.89919258T>CCA497380460MC1Rc.-1T>C (n.-1T>C)
16g.89919258T>GCA497380461MC1Rc.-1T>G (n.-1T>G)
16g.89919259A>CCA397458847MC1Rc.1A>C (p.Met1Leu)
16g.89919259A>GCA397458848MC1Rc.1A>G (p.Met1Val)
gnomAD v4
16g.89919259A>TCA397458851MC1Rc.1A>T (p.Met1Leu)
16g.89919260T>ACA397458858MC1Rc.2T>A (p.Met1Lys)
16g.89919260T>CCA286607316MC1Rc.2T>C (p.Met1Thr)
dbSNP gnomAD v3 gnomAD v4
16g.89919260T>GCA397458852MC1Rc.2T>G (p.Met1Arg)
16g.89919260T=CA2242009258MC1Rc.2T= (p.Met1=)
16g.89919261G>ACA286607318MC1Rc.3G>A (p.Met1Ile)
dbSNP
16g.89919261G>CCA397458872MC1Rc.3G>C (p.Met1Ile)
16g.89919261G=CA2242009259MC1Rc.3G= (p.Met1=)
16g.89919261G>TCA397458874MC1Rc.3G>T (p.Met1Ile)
16g.89919262G>ACA397458875MC1Rc.4G>A (p.Ala2Thr)
dbSNP gnomAD v2 gnomAD v4
16g.89919262G>CCA397458876MC1Rc.4G>C (p.Ala2Pro)
16g.89919262G=CA2242009260MC1Rc.4G= (p.Ala2=)
16g.89919262G>TCA397458877MC1Rc.4G>T (p.Ala2Ser)
ClinVar dbSNP gnomAD v4
16g.89919263C>ACA397458882MC1Rc.5C>A (p.Ala2Asp)
gnomAD v4
16g.89919263C=CA2242009261MC1Rc.5C= (p.Ala2=)
16g.89919263C>GCA397458881MC1Rc.5C>G (p.Ala2Gly)
dbSNP gnomAD v4
16g.89919263C>TCA397458879MC1Rc.5C>T (p.Ala2Val)
dbSNP gnomAD v4
16g.89919264T>ACA497380467MC1Rc.6T>A (p.Ala2=)
16g.89919264T>CCA286607324MC1Rc.6T>C (p.Ala2=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919264T>GCA497380469MC1Rc.6T>G (p.Ala2=)
16g.89919264T=CA2242009262MC1Rc.6T= (p.Ala2=)
16g.89919265delCA2635064547MC1Rc.7del (p.Val3CysfsTer?)
gnomAD v4
16g.89919265G>ACA397458884MC1Rc.7G>A (p.Val3Met)
ClinVar dbSNP gnomAD v4
16g.89919265G>CCA397458885MC1Rc.7G>C (p.Val3Leu)
16g.89919265G=CA2242009263MC1Rc.7G= (p.Val3=)
16g.89919265G>TCA397458887MC1Rc.7G>T (p.Val3Leu)
16g.89919266T>ACA397458888MC1Rc.8T>A (p.Val3Glu)
16g.89919266T>CCA397458890MC1Rc.8T>C (p.Val3Ala)
16g.89919266T>GCA397458892MC1Rc.8T>G (p.Val3Gly)
gnomAD v4
16g.89919267G>ACA497380470MC1Rc.9G>A (p.Val3=)
16g.89919267G>CCA497380474MC1Rc.9G>C (p.Val3=)
16g.89919267G>TCA497380471MC1Rc.9G>T (p.Val3=)
gnomAD v4
16g.89919268C>ACA397458894MC1Rc.10C>A (p.Gln4Lys)
gnomAD v4
16g.89919268C=CA2242009264MC1Rc.10C= (p.Gln4=)
16g.89919268C>GCA397458898MC1Rc.10C>G (p.Gln4Glu)
16g.89919268C>TCA397458896MC1Rc.10C>T (p.Gln4Ter)
ClinVar dbSNP gnomAD v4
16g.89919269A>CCA397458900MC1Rc.11A>C (p.Gln4Pro)
16g.89919269A>GCA397458902MC1Rc.11A>G (p.Gln4Arg)
gnomAD v3 gnomAD v4
16g.89919269A>TCA397458904MC1Rc.11A>T (p.Gln4Leu)
ClinVar
16g.89919270G>ACA497380475MC1Rc.12G>A (p.Gln4=)
gnomAD v4
16g.89919270G>CCA397458906MC1Rc.12G>C (p.Gln4His)
16g.89919270G>TCA397458908MC1Rc.12G>T (p.Gln4His)
gnomAD v4
16g.89919271G>ACA397458911MC1Rc.13G>A (p.Gly5Arg)
gnomAD v4
16g.89919271G>CCA397458913MC1Rc.13G>C (p.Gly5Arg)
16g.89919271G>TCA397458914MC1Rc.13G>T (p.Gly5Ter)
16g.89919272G>ACA397458916MC1Rc.14G>A (p.Gly5Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919272G>CCA397458918MC1Rc.14G>C (p.Gly5Ala)
dbSNP gnomAD v2 gnomAD v4
16g.89919272G=CA2242009265MC1Rc.14G= (p.Gly5=)
16g.89919272G>TCA397458921MC1Rc.14G>T (p.Gly5Val)
gnomAD v4
16g.89919273A>CCA497380479MC1Rc.15A>C (p.Gly5=)
16g.89919273A>GCA497380480MC1Rc.15A>G (p.Gly5=)
gnomAD v4
16g.89919273A>TCA497380482MC1Rc.15A>T (p.Gly5=)
16g.89919274T>ACA397458922MC1Rc.16T>A (p.Ser6Thr)
dbSNP gnomAD v4
16g.89919274T>CCA397458927MC1Rc.16T>C (p.Ser6Pro)
gnomAD v4
16g.89919274T>GCA397458924MC1Rc.16T>G (p.Ser6Ala)
16g.89919274T=CA2242009266MC1Rc.16T= (p.Ser6=)
16g.89919275C>ACA397458929MC1Rc.17C>A (p.Ser6Tyr)
16g.89919275C>GCA397458934MC1Rc.17C>G (p.Ser6Cys)
16g.89919275C>TCA397458931MC1Rc.17C>T (p.Ser6Phe)
16g.89919276C>ACA497380483MC1Rc.18C>A (p.Ser6=)
16g.89919276C=CA2242009267MC1Rc.18C= (p.Ser6=)
16g.89919276C>GCA497380486MC1Rc.18C>G (p.Ser6=)
gnomAD v4
16g.89919276C>TCA286607326MC1Rc.18C>T (p.Ser6=)
dbSNP gnomAD v3 gnomAD v4
16g.89919277C>ACA397458937MC1Rc.19C>A (p.Gln7Lys)
gnomAD v4
16g.89919277C=CA2242009268MC1Rc.19C= (p.Gln7=)
16g.89919277C>GCA397458938MC1Rc.19C>G (p.Gln7Glu)
16g.89919277C>TCA8255459MC1Rc.19C>T (p.Gln7Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919278A=CA2242009269MC1Rc.20A= (p.Gln7=)
16g.89919278A>CCA397458942MC1Rc.20A>C (p.Gln7Pro)
16g.89919278A>GCA8255460MC1Rc.20A>G (p.Gln7Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919278A>TCA397458946MC1Rc.20A>T (p.Gln7Leu)
16g.89919279G>ACA497380487MC1Rc.21G>A (p.Gln7=)
16g.89919279G>CCA397458947MC1Rc.21G>C (p.Gln7His)
16g.89919279G=CA2242009270MC1Rc.21G= (p.Gln7=)
16g.89919279G>TCA397458950MC1Rc.21G>T (p.Gln7His)
dbSNP gnomAD v3 gnomAD v4
16g.89919280A>CCA497380491MC1Rc.22A>C (p.Arg8=)
16g.89919280A>GCA397458952MC1Rc.22A>G (p.Arg8Gly)
16g.89919280A>TCA397458954MC1Rc.22A>T (p.Arg8Ter)
16g.89919283_89919285delCA2580613951MC1Rc.25_27del (p.Arg9del)
ClinVar
16g.89919281G>ACA8255461MC1Rc.23G>A (p.Arg8Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919281G>CCA397458958MC1Rc.23G>C (p.Arg8Thr)
16g.89919281G=CA2242009271MC1Rc.23G= (p.Arg8=)
16g.89919281G>TCA397458960MC1Rc.23G>T (p.Arg8Ile)
16g.89919282A>CCA397458962MC1Rc.24A>C (p.Arg8Ser)
16g.89919282A>GCA497380495MC1Rc.24A>G (p.Arg8=)
gnomAD v4
16g.89919282A>TCA397458965MC1Rc.24A>T (p.Arg8Ser)
16g.89919283A>CCA497380497MC1Rc.25A>C (p.Arg9=)
16g.89919283A>GCA397458967MC1Rc.25A>G (p.Arg9Gly)
16g.89919283A>TCA397458969MC1Rc.25A>T (p.Arg9Ter)
16g.89919284G>ACA397458972MC1Rc.26G>A (p.Arg9Lys)
16g.89919284G>CCA397458974MC1Rc.26G>C (p.Arg9Thr)
dbSNP
16g.89919284G=CA2242009273MC1Rc.26G= (p.Arg9=)
16g.89919284G>TCA397458975MC1Rc.26G>T (p.Arg9Ile)
gnomAD v4
16g.89919284_89919301delinsGACTTCTGGGCTCCCTCACA2242009272MC1Rc.26_43delinsGACTTCTGGGCTCCCTCA (p.Arg9=)
16g.89919285A>CCA397458978MC1Rc.27A>C (p.Arg9Ser)
16g.89919285A>GCA497380500MC1Rc.27A>G (p.Arg9=)
16g.89919285A>TCA397458980MC1Rc.27A>T (p.Arg9Ser)
16g.89919288_89919304delCA8255462MC1Rc.30_46del (p.Leu11HisfsTer26)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919286C>ACA397458983MC1Rc.28C>A (p.Leu10Ile)
16g.89919286C>GCA397458986MC1Rc.28C>G (p.Leu10Val)
16g.89919286C>TCA397458987MC1Rc.28C>T (p.Leu10Phe)
gnomAD v4
16g.89919287T>ACA397458993MC1Rc.29T>A (p.Leu10His)
16g.89919287T>CCA397458990MC1Rc.29T>C (p.Leu10Pro)
gnomAD v4
16g.89919287T>GCA397458989MC1Rc.29T>G (p.Leu10Arg)
16g.89919288T>ACA497380505MC1Rc.30T>A (p.Leu10=)
16g.89919288T>CCA497380507MC1Rc.30T>C (p.Leu10=)
dbSNP
16g.89919288T>GCA8255463MC1Rc.30T>G (p.Leu10=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919288T=CA2242009274MC1Rc.30T= (p.Leu10=)
16g.89919289C>ACA397458995MC1Rc.31C>A (p.Leu11Met)
16g.89919289C>GCA397458997MC1Rc.31C>G (p.Leu11Val)
16g.89919289C>TCA497380509MC1Rc.31C>T (p.Leu11=)
16g.89919290T>ACA397459000MC1Rc.32T>A (p.Leu11Gln)
16g.89919290T>CCA397459003MC1Rc.32T>C (p.Leu11Pro)
dbSNP gnomAD v4
16g.89919290T>GCA397459004MC1Rc.32T>G (p.Leu11Arg)
16g.89919290T=CA2242009275MC1Rc.32T= (p.Leu11=)
16g.89919291G>ACA497380517MC1Rc.33G>A (p.Leu11=)
dbSNP gnomAD v2 gnomAD v4
16g.89919291G>CCA497380518MC1Rc.33G>C (p.Leu11=)
gnomAD v4
16g.89919291G=CA2242009276MC1Rc.33G= (p.Leu11=)
16g.89919291G>TCA497380520MC1Rc.33G>T (p.Leu11=)
16g.89919292G>ACA397459007MC1Rc.34G>A (p.Gly12Ser)
16g.89919292G>CCA397459009MC1Rc.34G>C (p.Gly12Arg)
16g.89919292G>TCA397459011MC1Rc.34G>T (p.Gly12Cys)
16g.89919293G>ACA8255464MC1Rc.35G>A (p.Gly12Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919293G>CCA286607333MC1Rc.35G>C (p.Gly12Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919293G=CA2242009277MC1Rc.35G= (p.Gly12=)
16g.89919293G>TCA397459017MC1Rc.35G>T (p.Gly12Val)
16g.89919294C>ACA286607336MC1Rc.36C>A (p.Gly12=)
dbSNP gnomAD v4
16g.89919294C=CA2242009278MC1Rc.36C= (p.Gly12=)
16g.89919294C>GCA497380531MC1Rc.36C>G (p.Gly12=)
16g.89919294C>TCA497380532MC1Rc.36C>T (p.Gly12=)
16g.89919295T>ACA397459027MC1Rc.37T>A (p.Ser13Thr)
16g.89919295T>CCA397459025MC1Rc.37T>C (p.Ser13Pro)
16g.89919295T>GCA397459020MC1Rc.37T>G (p.Ser13Ala)
16g.89919296C>ACA397459030MC1Rc.38C>A (p.Ser13Tyr)
16g.89919296C>GCA397459035MC1Rc.38C>G (p.Ser13Cys)
16g.89919296C>TCA397459037MC1Rc.38C>T (p.Ser13Phe)
gnomAD v4
16g.89919297C>ACA497380538MC1Rc.39C>A (p.Ser13=)
gnomAD v4
16g.89919297C=CA2242009279MC1Rc.39C= (p.Ser13=)
16g.89919297C>GCA497380539MC1Rc.39C>G (p.Ser13=)
16g.89919297C>TCA497380540MC1Rc.39C>T (p.Ser13=)
dbSNP gnomAD v3 gnomAD v4
16g.89919298C>ACA397459039MC1Rc.40C>A (p.Leu14Ile)
gnomAD v4
16g.89919298C=CA2242009280MC1Rc.40C= (p.Leu14=)
16g.89919298C>GCA397459042MC1Rc.40C>G (p.Leu14Val)
16g.89919298C>TCA8255465MC1Rc.40C>T (p.Leu14Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919299T>ACA397459045MC1Rc.41T>A (p.Leu14His)
16g.89919299T>CCA397459046MC1Rc.41T>C (p.Leu14Pro)
16g.89919299T>GCA397459048MC1Rc.41T>G (p.Leu14Arg)
16g.89919300C>ACA497380542MC1Rc.42C>A (p.Leu14=)
dbSNP gnomAD v3 gnomAD v4
16g.89919300C=CA2242009281MC1Rc.42C= (p.Leu14=)
16g.89919300C>GCA497380543MC1Rc.42C>G (p.Leu14=)
gnomAD v4
16g.89919300C>TCA497380544MC1Rc.42C>T (p.Leu14=)
16g.89919301A>CCA397459051MC1Rc.43A>C (p.Asn15His)
16g.89919301A>GCA397459053MC1Rc.43A>G (p.Asn15Asp)
16g.89919301A>TCA397459056MC1Rc.43A>T (p.Asn15Tyr)
16g.89919302A=CA2242009282MC1Rc.44A= (p.Asn15=)
16g.89919302A>CCA8255467MC1Rc.44A>C (p.Asn15Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919302A>GCA8255466MC1Rc.44A>G (p.Asn15Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919302A>TCA397459059MC1Rc.44A>T (p.Asn15Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89919303C>ACA397459064MC1Rc.45C>A (p.Asn15Lys)
16g.89919303C=CA2242009283MC1Rc.45C= (p.Asn15=)
16g.89919303C>GCA397459065MC1Rc.45C>G (p.Asn15Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919303C>TCA497380547MC1Rc.45C>T (p.Asn15=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919304T>ACA397459068MC1Rc.46T>A (p.Ser16Thr)
16g.89919304T>CCA397459072MC1Rc.46T>C (p.Ser16Pro)
16g.89919304T>GCA397459074MC1Rc.46T>G (p.Ser16Ala)
16g.89919305C>ACA397459075MC1Rc.47C>A (p.Ser16Tyr)
16g.89919305C=CA2242009284MC1Rc.47C= (p.Ser16=)
16g.89919305C>GCA397459078MC1Rc.47C>G (p.Ser16Cys)
gnomAD v4
16g.89919305C>TCA397459081MC1Rc.47C>T (p.Ser16Phe)
dbSNP gnomAD v3 gnomAD v4
16g.89919306C>ACA497380550MC1Rc.48C>A (p.Ser16=)
16g.89919306C=CA2242009285MC1Rc.48C= (p.Ser16=)
16g.89919306C>GCA497380552MC1Rc.48C>G (p.Ser16=)
16g.89919306C>TCA497380554MC1Rc.48C>T (p.Ser16=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919307A=CA2242009286MC1Rc.49A= (p.Thr17=)
16g.89919307A>CCA397459083MC1Rc.49A>C (p.Thr17Pro)
dbSNP
16g.89919307A>GCA397459085MC1Rc.49A>G (p.Thr17Ala)
16g.89919307A>TCA397459087MC1Rc.49A>T (p.Thr17Ser)
16g.89919307_89919308delinsACCA2242009287MC1Rc.49_50delinsAC (p.Thr17=)
16g.89919308C>ACA8255468MC1Rc.50C>A (p.Thr17Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919308C=CA2242009288MC1Rc.50C= (p.Thr17=)
16g.89919308C>GCA397459091MC1Rc.50C>G (p.Thr17Ser)
16g.89919308C>TCA397459094MC1Rc.50C>T (p.Thr17Ile)
dbSNP gnomAD v2
16g.89919312delCA1139665004MC1Rc.54del (p.Thr19GlnfsTer?)
ClinVar dbSNP
16g.89919309C>ACA497380560MC1Rc.51C>A (p.Thr17=)
16g.89919309C=CA2242009289MC1Rc.51C= (p.Thr17=)
16g.89919309C>GCA8255469MC1Rc.51C>G (p.Thr17=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919309C>TCA497380561MC1Rc.51C>T (p.Thr17=)
16g.89919310C>ACA397459103MC1Rc.52C>A (p.Pro18Thr)
16g.89919310C=CA2242009290MC1Rc.52C= (p.Pro18=)
16g.89919310C>GCA8255470MC1Rc.52C>G (p.Pro18Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919310C>TCA397459098MC1Rc.52C>T (p.Pro18Ser)
dbSNP gnomAD v3 gnomAD v4
16g.89919311C>ACA397459105MC1Rc.53C>A (p.Pro18His)
gnomAD v4
16g.89919311C>GCA397459107MC1Rc.53C>G (p.Pro18Arg)
gnomAD v4
16g.89919311C>TCA397459110MC1Rc.53C>T (p.Pro18Leu)
gnomAD v4
16g.89919312C>ACA497380568MC1Rc.54C>A (p.Pro18=)
dbSNP gnomAD v2 gnomAD v4
16g.89919312C=CA2242009291MC1Rc.54C= (p.Pro18=)
16g.89919312C>GCA497380569MC1Rc.54C>G (p.Pro18=)
dbSNP gnomAD v3 gnomAD v4
16g.89919312C>TCA497380570MC1Rc.54C>T (p.Pro18=)
dbSNP gnomAD v2 gnomAD v4
16g.89919313A=CA2242009292MC1Rc.55A= (p.Thr19=)
16g.89919313A>CCA397459112MC1Rc.55A>C (p.Thr19Pro)
16g.89919313A>GCA397459114MC1Rc.55A>G (p.Thr19Ala)
dbSNP gnomAD v3 gnomAD v4
16g.89919313A>TCA397459115MC1Rc.55A>T (p.Thr19Ser)
16g.89919314C>ACA397459116MC1Rc.56C>A (p.Thr19Lys)
16g.89919314C=CA2242009293MC1Rc.56C= (p.Thr19=)
16g.89919314C>GCA397459117MC1Rc.56C>G (p.Thr19Arg)
16g.89919314C>TCA8255471MC1Rc.56C>T (p.Thr19Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919315A>CCA497380572MC1Rc.57A>C (p.Thr19=)
16g.89919315A>GCA497380573MC1Rc.57A>G (p.Thr19=)
16g.89919315A>TCA497380574MC1Rc.57A>T (p.Thr19=)
16g.89919316G>ACA397459118MC1Rc.58G>A (p.Ala20Thr)
16g.89919316G>CCA397459119MC1Rc.58G>C (p.Ala20Pro)
16g.89919316G>TCA397459120MC1Rc.58G>T (p.Ala20Ser)
16g.89919317C>ACA397459124MC1Rc.59C>A (p.Ala20Asp)
16g.89919317C=CA2242009294MC1Rc.59C= (p.Ala20=)
16g.89919317C>GCA8255472MC1Rc.59C>G (p.Ala20Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919317C>TCA397459122MC1Rc.59C>T (p.Ala20Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919318C>ACA497380580MC1Rc.60C>A (p.Ala20=)
16g.89919318C>GCA497380581MC1Rc.60C>G (p.Ala20=)
16g.89919318C>TCA497380582MC1Rc.60C>T (p.Ala20=)
16g.89919319A>CCA397459135MC1Rc.61A>C (p.Ile21Leu)
16g.89919319A>GCA397459128MC1Rc.61A>G (p.Ile21Val)
dbSNP gnomAD v4
16g.89919319A>TCA397459133MC1Rc.61A>T (p.Ile21Phe)

Number of alleles fetched