Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125468773T>ACA358128968FAT4c.12167T>A (p.Val4056Glu)
c.6938T>A (p.Val2313Glu)
c.6950T>A (p.Val2317Glu)
c.12161T>A (p.Val4054Glu)
4g.125468773T>CCA358128972FAT4c.12167T>C (p.Val4056Ala)
c.6938T>C (p.Val2313Ala)
c.6950T>C (p.Val2317Ala)
c.12161T>C (p.Val4054Ala)
 gnomAD v4
4g.125468773T>GCA358128975FAT4c.12167T>G (p.Val4056Gly)
c.6938T>G (p.Val2313Gly)
c.6950T>G (p.Val2317Gly)
c.12161T>G (p.Val4054Gly)
4g.125468774G>ACA441373033FAT4c.12168G>A (p.Val4056=)
c.6939G>A (p.Val2313=)
c.6951G>A (p.Val2317=)
c.12162G>A (p.Val4054=)
4g.125468774G>CCA441373032FAT4c.12168G>C (p.Val4056=)
c.6939G>C (p.Val2313=)
c.6951G>C (p.Val2317=)
c.12162G>C (p.Val4054=)
4g.125468774G=CA1491662393FAT4c.12168G= (p.Val4056=)
c.6939G= (p.Val2313=)
c.6951G= (p.Val2317=)
c.12162G= (p.Val4054=)
4g.125468774G>TCA3074017FAT4c.12168G>T (p.Val4056=)
c.6939G>T (p.Val2313=)
c.6951G>T (p.Val2317=)
c.12162G>T (p.Val4054=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468775T>ACA358128981FAT4c.12169T>A (p.Ser4057Thr)
c.6940T>A (p.Ser2314Thr)
c.6952T>A (p.Ser2318Thr)
c.12163T>A (p.Ser4055Thr)
4g.125468775T>CCA358128984FAT4c.12169T>C (p.Ser4057Pro)
c.6940T>C (p.Ser2314Pro)
c.6952T>C (p.Ser2318Pro)
c.12163T>C (p.Ser4055Pro)
4g.125468775T>GCA358128986FAT4c.12169T>G (p.Ser4057Ala)
c.6940T>G (p.Ser2314Ala)
c.6952T>G (p.Ser2318Ala)
c.12163T>G (p.Ser4055Ala)
 COSMIC COSMIC
4g.125468776C>ACA358128989FAT4c.12170C>A (p.Ser4057Ter)
c.6941C>A (p.Ser2314Ter)
c.6953C>A (p.Ser2318Ter)
c.12164C>A (p.Ser4055Ter)
4g.125468776C=CA1491662394FAT4c.12170C= (p.Ser4057=)
c.6941C= (p.Ser2314=)
c.6953C= (p.Ser2318=)
c.12164C= (p.Ser4055=)
4g.125468776C>GCA358128995FAT4c.12170C>G (p.Ser4057Ter)
c.6941C>G (p.Ser2314Ter)
c.6953C>G (p.Ser2318Ter)
c.12164C>G (p.Ser4055Ter)
4g.125468776C>TCA358128992FAT4c.12170C>T (p.Ser4057Leu)
c.6941C>T (p.Ser2314Leu)
c.6953C>T (p.Ser2318Leu)
c.12164C>T (p.Ser4055Leu)
4g.125468777A=CA1491662396FAT4c.12171A= (p.Ser4057=)
c.6942A= (p.Ser2314=)
c.6954A= (p.Ser2318=)
c.12165A= (p.Ser4055=)
4g.125468777A>CCA441373034FAT4c.12171A>C (p.Ser4057=)
c.6942A>C (p.Ser2314=)
c.6954A>C (p.Ser2318=)
c.12165A>C (p.Ser4055=)
4g.125468777A>GCA441373035FAT4c.12171A>G (p.Ser4057=)
c.6942A>G (p.Ser2314=)
c.6954A>G (p.Ser2318=)
c.12165A>G (p.Ser4055=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468777A>TCA441373036FAT4c.12171A>T (p.Ser4057=)
c.6942A>T (p.Ser2314=)
c.6954A>T (p.Ser2318=)
c.12165A>T (p.Ser4055=)
4g.125468777_125468778insTACA1491662395FAT4c.12171_12172insTA (p.Asp4058Ter)
c.6942_6943insTA (p.Asp2315Ter)
c.6954_6955insTA (p.Asp2319Ter)
c.12165_12166insTA (p.Asp4056Ter)
 dbSNP
4g.125468778G>ACA358128998FAT4c.12172G>A (p.Asp4058Asn)
c.6943G>A (p.Asp2315Asn)
c.6955G>A (p.Asp2319Asn)
c.12166G>A (p.Asp4056Asn)
4g.125468778G>CCA358129001FAT4c.12172G>C (p.Asp4058His)
c.6943G>C (p.Asp2315His)
c.6955G>C (p.Asp2319His)
c.12166G>C (p.Asp4056His)
4g.125468778G=CA1491662397FAT4c.12172G= (p.Asp4058=)
c.6943G= (p.Asp2315=)
c.6955G= (p.Asp2319=)
c.12166G= (p.Asp4056=)
4g.125468778G>TCA358129003FAT4c.12172G>T (p.Asp4058Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6955G>T (p.Asp2319Tyr)
c.12166G>T (p.Asp4056Tyr)
4g.125468778_125468779insTTGTAAAGCACA1491662398FAT4c.12172_12173insTTGTAAAGCA (p.Asp4058ValfsTer28)
c.6943_6944insTTGTAAAGCA (p.Asp2315ValfsTer28)
c.6955_6956insTTGTAAAGCA (p.Asp2319ValfsTer28)
c.12166_12167insTTGTAAAGCA (p.Asp4056ValfsTer28)
 dbSNP
4g.125468779A>CCA358129007FAT4c.12173A>C (p.Asp4058Ala)
c.6944A>C (p.Asp2315Ala)
c.6956A>C (p.Asp2319Ala)
c.12167A>C (p.Asp4056Ala)
4g.125468779A>GCA358129010FAT4c.12173A>G (p.Asp4058Gly)
c.6944A>G (p.Asp2315Gly)
c.6956A>G (p.Asp2319Gly)
c.12167A>G (p.Asp4056Gly)
4g.125468779A>TCA358129012FAT4c.12173A>T (p.Asp4058Val)
c.6944A>T (p.Asp2315Val)
c.6956A>T (p.Asp2319Val)
c.12167A>T (p.Asp4056Val)
4g.125468780T>ACA358129014FAT4c.12174T>A (p.Asp4058Glu)
c.6945T>A (p.Asp2315Glu)
c.6957T>A (p.Asp2319Glu)
c.12168T>A (p.Asp4056Glu)
4g.125468780T>CCA441373037FAT4c.12174T>C (p.Asp4058=)
c.6945T>C (p.Asp2315=)
c.6957T>C (p.Asp2319=)
c.12168T>C (p.Asp4056=)
 dbSNP
4g.125468780T>GCA358129017FAT4c.12174T>G (p.Asp4058Glu)
c.6945T>G (p.Asp2315Glu)
c.6957T>G (p.Asp2319Glu)
c.12168T>G (p.Asp4056Glu)
 gnomAD v4
4g.125468781G>ACA358129019FAT4c.12175G>A (p.Gly4059Arg)
c.6946G>A (p.Gly2316Arg)
c.6958G>A (p.Gly2320Arg)
c.12169G>A (p.Gly4057Arg)
4g.125468781G>CCA358129022FAT4c.12175G>C (p.Gly4059Arg)
c.6946G>C (p.Gly2316Arg)
c.6958G>C (p.Gly2320Arg)
c.12169G>C (p.Gly4057Arg)
4g.125468781G>TCA358129025FAT4c.12175G>T (p.Gly4059Ter)
c.6946G>T (p.Gly2316Ter)
c.6958G>T (p.Gly2320Ter)
c.12169G>T (p.Gly4057Ter)
4g.125468782G>ACA358129035FAT4c.12176G>A (p.Gly4059Glu)
c.6947G>A (p.Gly2316Glu)
c.6959G>A (p.Gly2320Glu)
c.12170G>A (p.Gly4057Glu)
 COSMIC COSMIC
4g.125468782G>CCA358129032FAT4c.12176G>C (p.Gly4059Ala)
c.6947G>C (p.Gly2316Ala)
c.6959G>C (p.Gly2320Ala)
c.12170G>C (p.Gly4057Ala)
4g.125468782G>TCA358129028FAT4c.12176G>T (p.Gly4059Val)
c.6947G>T (p.Gly2316Val)
c.6959G>T (p.Gly2320Val)
c.12170G>T (p.Gly4057Val)
4g.125468783A=CA1491662399FAT4c.12177A= (p.Gly4059=)
c.6948A= (p.Gly2316=)
c.6960A= (p.Gly2320=)
c.12171A= (p.Gly4057=)
4g.125468783A>CCA441373038FAT4c.12177A>C (p.Gly4059=)
c.6948A>C (p.Gly2316=)
c.6960A>C (p.Gly2320=)
c.12171A>C (p.Gly4057=)
4g.125468783A>GCA441373039FAT4c.12177A>G (p.Gly4059=)
c.6948A>G (p.Gly2316=)
c.6960A>G (p.Gly2320=)
c.12171A>G (p.Gly4057=)
4g.125468783A>TCA441373040FAT4c.12177A>T (p.Gly4059=)
c.6948A>T (p.Gly2316=)
c.6960A>T (p.Gly2320=)
c.12171A>T (p.Gly4057=)
 dbSNP COSMIC COSMIC
4g.125468784C>ACA358129037FAT4c.12178C>A (p.His4060Asn)
c.6949C>A (p.His2317Asn)
c.6961C>A (p.His2321Asn)
c.12172C>A (p.His4058Asn)
4g.125468784C=CA1491662400FAT4c.12178C= (p.His4060=)
c.6949C= (p.His2317=)
c.6961C= (p.His2321=)
c.12172C= (p.His4058=)
4g.125468784C>GCA358129041FAT4c.12178C>G (p.His4060Asp)
c.6949C>G (p.His2317Asp)
c.6961C>G (p.His2321Asp)
c.12172C>G (p.His4058Asp)
4g.125468784C>TCA3074018FAT4c.12178C>T (p.His4060Tyr)
c.6949C>T (p.His2317Tyr)
c.6961C>T (p.His2321Tyr)
c.12172C>T (p.His4058Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468785A=CA1491662401FAT4c.12179A= (p.His4060=)
c.6950A= (p.His2317=)
c.6962A= (p.His2321=)
c.12173A= (p.His4058=)
4g.125468785A>CCA358129046FAT4c.12179A>C (p.His4060Pro)
c.6950A>C (p.His2317Pro)
c.6962A>C (p.His2321Pro)
c.12173A>C (p.His4058Pro)
4g.125468785A>GCA3074019FAT4c.12179A>G (p.His4060Arg)
c.6950A>G (p.His2317Arg)
c.6962A>G (p.His2321Arg)
c.12173A>G (p.His4058Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468785A>TCA358129051FAT4c.12179A>T (p.His4060Leu)
c.6950A>T (p.His2317Leu)
c.6962A>T (p.His2321Leu)
c.12173A>T (p.His4058Leu)
4g.125468786T>ACA358129053FAT4c.12180T>A (p.His4060Gln)
c.6951T>A (p.His2317Gln)
c.6963T>A (p.His2321Gln)
c.12174T>A (p.His4058Gln)
4g.125468786T>CCA441373041FAT4c.12180T>C (p.His4060=)
c.6951T>C (p.His2317=)
c.6963T>C (p.His2321=)
c.12174T>C (p.His4058=)
 ClinVar
4g.125468786T>GCA358129055FAT4c.12180T>G (p.His4060Gln)
c.6951T>G (p.His2317Gln)
c.6963T>G (p.His2321Gln)
c.12174T>G (p.His4058Gln)
4g.125468789delCA645528128FAT4c.12183del (p.His4062ThrfsTer3)
c.6954del (p.His2319ThrfsTer3)
c.6966del (p.His2323ThrfsTer3)
c.12177del (p.His4060ThrfsTer3)
 COSMIC COSMIC COSMIC
4g.125468787T>ACA358129062FAT4c.12181T>A (p.Phe4061Ile)
c.6952T>A (p.Phe2318Ile)
c.6964T>A (p.Phe2322Ile)
c.12175T>A (p.Phe4059Ile)
4g.125468787T>CCA358129064FAT4c.12181T>C (p.Phe4061Leu)
c.6952T>C (p.Phe2318Leu)
c.6964T>C (p.Phe2322Leu)
c.12175T>C (p.Phe4059Leu)
4g.125468787T>GCA358129066FAT4c.12181T>G (p.Phe4061Val)
c.6952T>G (p.Phe2318Val)
c.6964T>G (p.Phe2322Val)
c.12175T>G (p.Phe4059Val)
4g.125468788T>ACA358129072FAT4c.12182T>A (p.Phe4061Tyr)
c.6953T>A (p.Phe2318Tyr)
c.6965T>A (p.Phe2322Tyr)
c.12176T>A (p.Phe4059Tyr)
4g.125468788T>CCA358129071FAT4c.12182T>C (p.Phe4061Ser)
c.6953T>C (p.Phe2318Ser)
c.6965T>C (p.Phe2322Ser)
c.12176T>C (p.Phe4059Ser)
4g.125468788T>GCA358129068FAT4c.12182T>G (p.Phe4061Cys)
c.6953T>G (p.Phe2318Cys)
c.6965T>G (p.Phe2322Cys)
c.12176T>G (p.Phe4059Cys)
4g.125468789T>ACA358129075FAT4c.12183T>A (p.Phe4061Leu)
c.6954T>A (p.Phe2318Leu)
c.6966T>A (p.Phe2322Leu)
c.12177T>A (p.Phe4059Leu)
4g.125468789T>CCA441373042FAT4c.12183T>C (p.Phe4061=)
c.6954T>C (p.Phe2318=)
c.6966T>C (p.Phe2322=)
c.12177T>C (p.Phe4059=)
 gnomAD v4
4g.125468789T>GCA358129077FAT4c.12183T>G (p.Phe4061Leu)
c.6954T>G (p.Phe2318Leu)
c.6966T>G (p.Phe2322Leu)
c.12177T>G (p.Phe4059Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.125468789T=CA1491662402FAT4c.12183T= (p.Phe4061=)
c.6954T= (p.Phe2318=)
c.6966T= (p.Phe2322=)
c.12177T= (p.Phe4059=)
4g.125468790C>ACA358129079FAT4c.12184C>A (p.His4062Asn)
c.6955C>A (p.His2319Asn)
c.6967C>A (p.His2323Asn)
c.12178C>A (p.His4060Asn)
4g.125468790C>GCA358129081FAT4c.12184C>G (p.His4062Asp)
c.6955C>G (p.His2319Asp)
c.6967C>G (p.His2323Asp)
c.12178C>G (p.His4060Asp)
4g.125468790C>TCA358129085FAT4c.12184C>T (p.His4062Tyr)
c.6955C>T (p.His2319Tyr)
c.6967C>T (p.His2323Tyr)
c.12178C>T (p.His4060Tyr)
4g.125468791A>CCA358129088FAT4c.12185A>C (p.His4062Pro)
c.6956A>C (p.His2319Pro)
c.6968A>C (p.His2323Pro)
c.12179A>C (p.His4060Pro)
4g.125468791A>GCA358129091FAT4c.12185A>G (p.His4062Arg)
c.6956A>G (p.His2319Arg)
c.6968A>G (p.His2323Arg)
c.12179A>G (p.His4060Arg)
4g.125468791A>TCA358129092FAT4c.12185A>T (p.His4062Leu)
c.6956A>T (p.His2319Leu)
c.6968A>T (p.His2323Leu)
c.12179A>T (p.His4060Leu)
4g.125468792C>ACA358129097FAT4c.12186C>A (p.His4062Gln)
c.6957C>A (p.His2319Gln)
c.6969C>A (p.His2323Gln)
c.12180C>A (p.His4060Gln)
4g.125468792C>GCA358129101FAT4c.12186C>G (p.His4062Gln)
c.6957C>G (p.His2319Gln)
c.6969C>G (p.His2323Gln)
c.12180C>G (p.His4060Gln)
4g.125468792C>TCA441204205FAT4c.12186C>T (p.His4062=)
c.6957C>T (p.His2319=)
c.6969C>T (p.His2323=)
c.12180C>T (p.His4060=)
4g.125468793A=CA1491662403FAT4c.12187A= (p.Thr4063=)
c.6958A= (p.Thr2320=)
c.6970A= (p.Thr2324=)
c.12181A= (p.Thr4061=)
4g.125468793A>CCA358129104FAT4c.12187A>C (p.Thr4063Pro)
c.6958A>C (p.Thr2320Pro)
c.6970A>C (p.Thr2324Pro)
c.12181A>C (p.Thr4061Pro)
4g.125468793A>GCA3074020FAT4c.12187A>G (p.Thr4063Ala)
c.6958A>G (p.Thr2320Ala)
c.6970A>G (p.Thr2324Ala)
c.12181A>G (p.Thr4061Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468793A>TCA358129109FAT4c.12187A>T (p.Thr4063Ser)
c.6958A>T (p.Thr2320Ser)
c.6970A>T (p.Thr2324Ser)
c.12181A>T (p.Thr4061Ser)
4g.125468794C>ACA358129116FAT4c.12188C>A (p.Thr4063Asn)
c.6959C>A (p.Thr2320Asn)
c.6971C>A (p.Thr2324Asn)
c.12182C>A (p.Thr4061Asn)
4g.125468794C>GCA358129114FAT4c.12188C>G (p.Thr4063Ser)
c.6959C>G (p.Thr2320Ser)
c.6971C>G (p.Thr2324Ser)
c.12182C>G (p.Thr4061Ser)
4g.125468794C>TCA358129112FAT4c.12188C>T (p.Thr4063Ile)
c.6959C>T (p.Thr2320Ile)
c.6971C>T (p.Thr2324Ile)
c.12182C>T (p.Thr4061Ile)
4g.125468795T>ACA441204211FAT4c.12189T>A (p.Thr4063=)
c.6960T>A (p.Thr2320=)
c.6972T>A (p.Thr2324=)
c.12183T>A (p.Thr4061=)
4g.125468795T>CCA441204210FAT4c.12189T>C (p.Thr4063=)
c.6960T>C (p.Thr2320=)
c.6972T>C (p.Thr2324=)
c.12183T>C (p.Thr4061=)
 dbSNP gnomAD v4
4g.125468795T>GCA441204209FAT4c.12189T>G (p.Thr4063=)
c.6960T>G (p.Thr2320=)
c.6972T>G (p.Thr2324=)
c.12183T>G (p.Thr4061=)
 dbSNP gnomAD v4
4g.125468795T=CA1491662404FAT4c.12189T= (p.Thr4063=)
c.6960T= (p.Thr2320=)
c.6972T= (p.Thr2324=)
c.12183T= (p.Thr4061=)
4g.125468796G>ACA358129120FAT4c.12190G>A (p.Val4064Met)
c.6961G>A (p.Val2321Met)
c.6973G>A (p.Val2325Met)
c.12184G>A (p.Val4062Met)
 dbSNP
4g.125468796G>CCA358129124FAT4c.12190G>C (p.Val4064Leu)
c.6961G>C (p.Val2321Leu)
c.6973G>C (p.Val2325Leu)
c.12184G>C (p.Val4062Leu)
4g.125468796G=CA1491662405FAT4c.12190G= (p.Val4064=)
c.6961G= (p.Val2321=)
c.6973G= (p.Val2325=)
c.12184G= (p.Val4062=)
4g.125468796G>TCA358129127FAT4c.12190G>T (p.Val4064Leu)
c.6961G>T (p.Val2321Leu)
c.6973G>T (p.Val2325Leu)
c.12184G>T (p.Val4062Leu)
4g.125468797T>ACA358129130FAT4c.12191T>A (p.Val4064Glu)
c.6962T>A (p.Val2321Glu)
c.6974T>A (p.Val2325Glu)
c.12185T>A (p.Val4062Glu)
4g.125468797T>CCA358129134FAT4c.12191T>C (p.Val4064Ala)
c.6962T>C (p.Val2321Ala)
c.6974T>C (p.Val2325Ala)
c.12185T>C (p.Val4062Ala)
4g.125468797T>GCA358129136FAT4c.12191T>G (p.Val4064Gly)
c.6962T>G (p.Val2321Gly)
c.6974T>G (p.Val2325Gly)
c.12185T>G (p.Val4062Gly)
4g.125468798G>ACA441204213FAT4c.12192G>A (p.Val4064=)
c.6963G>A (p.Val2321=)
c.6975G>A (p.Val2325=)
c.12186G>A (p.Val4062=)
4g.125468798G>CCA441204214FAT4c.12192G>C (p.Val4064=)
c.6963G>C (p.Val2321=)
c.6975G>C (p.Val2325=)
c.12186G>C (p.Val4062=)
4g.125468798G>TCA441204215FAT4c.12192G>T (p.Val4064=)
c.6963G>T (p.Val2321=)
c.6975G>T (p.Val2325=)
c.12186G>T (p.Val4062=)
4g.125468799A=CA1491662406FAT4c.12193A= (p.Ile4065=)
c.6964A= (p.Ile2322=)
c.6976A= (p.Ile2326=)
c.12187A= (p.Ile4063=)
4g.125468799A>CCA358129142FAT4c.12193A>C (p.Ile4065Leu)
c.6964A>C (p.Ile2322Leu)
c.6976A>C (p.Ile2326Leu)
c.12187A>C (p.Ile4063Leu)
4g.125468799A>GCA358129145FAT4c.12193A>G (p.Ile4065Val)
c.6964A>G (p.Ile2322Val)
c.6976A>G (p.Ile2326Val)
c.12187A>G (p.Ile4063Val)
4g.125468799A>TCA358129149FAT4c.12193A>T (p.Ile4065Phe)
c.6964A>T (p.Ile2322Phe)
c.6976A>T (p.Ile2326Phe)
c.12187A>T (p.Ile4063Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.125468800T>ACA358129154FAT4c.12194T>A (p.Ile4065Asn)
c.6965T>A (p.Ile2322Asn)
c.6977T>A (p.Ile2326Asn)
c.12188T>A (p.Ile4063Asn)
4g.125468800T>CCA358129160FAT4c.12194T>C (p.Ile4065Thr)
c.6965T>C (p.Ile2322Thr)
c.6977T>C (p.Ile2326Thr)
c.12188T>C (p.Ile4063Thr)
4g.125468800T>GCA358129162FAT4c.12194T>G (p.Ile4065Ser)
c.6965T>G (p.Ile2322Ser)
c.6977T>G (p.Ile2326Ser)
c.12188T>G (p.Ile4063Ser)
4g.125468801T>ACA441204218FAT4c.12195T>A (p.Ile4065=)
c.6966T>A (p.Ile2322=)
c.6978T>A (p.Ile2326=)
c.12189T>A (p.Ile4063=)
4g.125468801T>CCA441204220FAT4c.12195T>C (p.Ile4065=)
c.6966T>C (p.Ile2322=)
c.6978T>C (p.Ile2326=)
c.12189T>C (p.Ile4063=)
4g.125468801T>GCA358129164FAT4c.12195T>G (p.Ile4065Met)
c.6966T>G (p.Ile2322Met)
c.6978T>G (p.Ile2326Met)
c.12189T>G (p.Ile4063Met)
4g.125468802G>ACA358129168FAT4c.12196G>A (p.Ala4066Thr)
c.6967G>A (p.Ala2323Thr)
c.6979G>A (p.Ala2327Thr)
c.12190G>A (p.Ala4064Thr)
 gnomAD v4
4g.125468802G>CCA358129169FAT4c.12196G>C (p.Ala4066Pro)
c.6967G>C (p.Ala2323Pro)
c.6979G>C (p.Ala2327Pro)
c.12190G>C (p.Ala4064Pro)
4g.125468802G>TCA358129167FAT4c.12196G>T (p.Ala4066Ser)
c.6967G>T (p.Ala2323Ser)
c.6979G>T (p.Ala2327Ser)
c.12190G>T (p.Ala4064Ser)
4g.125468803C>ACA358129171FAT4c.12197C>A (p.Ala4066Asp)
c.6968C>A (p.Ala2323Asp)
c.6980C>A (p.Ala2327Asp)
c.12191C>A (p.Ala4064Asp)
 gnomAD v4
4g.125468803C=CA1491662407FAT4c.12197C= (p.Ala4066=)
c.6968C= (p.Ala2323=)
c.6980C= (p.Ala2327=)
c.12191C= (p.Ala4064=)
4g.125468803C>GCA358129175FAT4c.12197C>G (p.Ala4066Gly)
c.6968C>G (p.Ala2323Gly)
c.6980C>G (p.Ala2327Gly)
c.12191C>G (p.Ala4064Gly)
4g.125468803C>TCA104860510FAT4c.12197C>T (p.Ala4066Val)
c.6968C>T (p.Ala2323Val)
c.6980C>T (p.Ala2327Val)
c.12191C>T (p.Ala4064Val)
 dbSNP gnomAD v3 gnomAD v4
4g.125468804C>ACA441204221FAT4c.12198C>A (p.Ala4066=)
c.6969C>A (p.Ala2323=)
c.6981C>A (p.Ala2327=)
c.12192C>A (p.Ala4064=)
4g.125468804C=CA1491662408FAT4c.12198C= (p.Ala4066=)
c.6969C= (p.Ala2323=)
c.6981C= (p.Ala2327=)
c.12192C= (p.Ala4064=)
4g.125468804C>GCA441204222FAT4c.12198C>G (p.Ala4066=)
c.6969C>G (p.Ala2323=)
c.6981C>G (p.Ala2327=)
c.12192C>G (p.Ala4064=)
4g.125468804C>TCA441204223FAT4c.12198C>T (p.Ala4066=)
c.6969C>T (p.Ala2323=)
c.6981C>T (p.Ala2327=)
c.12192C>T (p.Ala4064=)
 dbSNP gnomAD v3 gnomAD v4
4g.125468805A>CCA441204224FAT4c.12199A>C (p.Arg4067=)
c.6970A>C (p.Arg2324=)
c.6982A>C (p.Arg2328=)
c.12193A>C (p.Arg4065=)
4g.125468805A>GCA358129181FAT4c.12199A>G (p.Arg4067Gly)
c.6970A>G (p.Arg2324Gly)
c.6982A>G (p.Arg2328Gly)
c.12193A>G (p.Arg4065Gly)
 gnomAD v4 COSMIC COSMIC
4g.125468805A>TCA358129182FAT4c.12199A>T (p.Arg4067Trp)
c.6970A>T (p.Arg2324Trp)
c.6982A>T (p.Arg2328Trp)
c.12193A>T (p.Arg4065Trp)
4g.125468806G>ACA358129187FAT4c.12200G>A (p.Arg4067Lys)
c.6971G>A (p.Arg2324Lys)
c.6983G>A (p.Arg2328Lys)
c.12194G>A (p.Arg4065Lys)
4g.125468806G>CCA358129190FAT4c.12200G>C (p.Arg4067Thr)
c.6971G>C (p.Arg2324Thr)
c.6983G>C (p.Arg2328Thr)
c.12194G>C (p.Arg4065Thr)
4g.125468806G>TCA358129192FAT4c.12200G>T (p.Arg4067Met)
c.6971G>T (p.Arg2324Met)
c.6983G>T (p.Arg2328Met)
c.12194G>T (p.Arg4065Met)
4g.125468807G>ACA441204227FAT4c.12201G>A (p.Arg4067=)
c.6972G>A (p.Arg2324=)
c.6984G>A (p.Arg2328=)
c.12195G>A (p.Arg4065=)
 dbSNP COSMIC COSMIC
4g.125468807G>CCA358129195FAT4c.12201G>C (p.Arg4067Ser)
c.6972G>C (p.Arg2324Ser)
c.6984G>C (p.Arg2328Ser)
c.12195G>C (p.Arg4065Ser)
 COSMIC COSMIC
4g.125468807G=CA1491662409FAT4c.12201G= (p.Arg4067=)
c.6972G= (p.Arg2324=)
c.6984G= (p.Arg2328=)
c.12195G= (p.Arg4065=)
4g.125468807G>TCA358129198FAT4c.12201G>T (p.Arg4067Ser)
c.6972G>T (p.Arg2324Ser)
c.6984G>T (p.Arg2328Ser)
c.12195G>T (p.Arg4065Ser)
4g.125468808A>CCA441204228FAT4c.12202A>C (p.Arg4068=)
c.6973A>C (p.Arg2325=)
c.6985A>C (p.Arg2329=)
c.12196A>C (p.Arg4066=)
4g.125468808A>GCA358129203FAT4c.12202A>G (p.Arg4068Gly)
c.6973A>G (p.Arg2325Gly)
c.6985A>G (p.Arg2329Gly)
c.12196A>G (p.Arg4066Gly)
 gnomAD v4
4g.125468808A>TCA358129205FAT4c.12202A>T (p.Arg4068Ter)
c.6973A>T (p.Arg2325Ter)
c.6985A>T (p.Arg2329Ter)
c.12196A>T (p.Arg4066Ter)
4g.125468809G>ACA358129213FAT4c.12203G>A (p.Arg4068Lys)
c.6974G>A (p.Arg2325Lys)
c.6986G>A (p.Arg2329Lys)
c.12197G>A (p.Arg4066Lys)
 gnomAD v4
4g.125468809G>CCA358129208FAT4c.12203G>C (p.Arg4068Thr)
c.6974G>C (p.Arg2325Thr)
c.6986G>C (p.Arg2329Thr)
c.12197G>C (p.Arg4066Thr)
 dbSNP gnomAD v4
4g.125468809G=CA1491662410FAT4c.12203G= (p.Arg4068=)
c.6974G= (p.Arg2325=)
c.6986G= (p.Arg2329=)
c.12197G= (p.Arg4066=)
4g.125468809G>TCA104860513FAT4c.12203G>T (p.Arg4068Ile)
c.6974G>T (p.Arg2325Ile)
c.6986G>T (p.Arg2329Ile)
c.12197G>T (p.Arg4066Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468810A>CCA358129216FAT4c.12204A>C (p.Arg4068Ser)
c.6975A>C (p.Arg2325Ser)
c.6987A>C (p.Arg2329Ser)
c.12198A>C (p.Arg4066Ser)
4g.125468810A>GCA441204232FAT4c.12204A>G (p.Arg4068=)
c.6975A>G (p.Arg2325=)
c.6987A>G (p.Arg2329=)
c.12198A>G (p.Arg4066=)
 COSMIC COSMIC
4g.125468810A>TCA358129219FAT4c.12204A>T (p.Arg4068Ser)
c.6975A>T (p.Arg2325Ser)
c.6987A>T (p.Arg2329Ser)
c.12198A>T (p.Arg4066Ser)
4g.125468811G>ACA358129233FAT4c.12205G>A (p.Ala4069Thr)
c.6976G>A (p.Ala2326Thr)
c.6988G>A (p.Ala2330Thr)
c.12199G>A (p.Ala4067Thr)
4g.125468811G>CCA358129238FAT4c.12205G>C (p.Ala4069Pro)
c.6976G>C (p.Ala2326Pro)
c.6988G>C (p.Ala2330Pro)
c.12199G>C (p.Ala4067Pro)
4g.125468811G>TCA358129240FAT4c.12205G>T (p.Ala4069Ser)
c.6976G>T (p.Ala2326Ser)
c.6988G>T (p.Ala2330Ser)
c.12199G>T (p.Ala4067Ser)
4g.125468812C>ACA358129243FAT4c.12206C>A (p.Ala4069Glu)
c.6977C>A (p.Ala2326Glu)
c.6989C>A (p.Ala2330Glu)
c.12200C>A (p.Ala4067Glu)
4g.125468812C=CA1491662411FAT4c.12206C= (p.Ala4069=)
c.6977C= (p.Ala2326=)
c.6989C= (p.Ala2330=)
c.12200C= (p.Ala4067=)
4g.125468812C>GCA358129246FAT4c.12206C>G (p.Ala4069Gly)
c.6977C>G (p.Ala2326Gly)
c.6989C>G (p.Ala2330Gly)
c.12200C>G (p.Ala4067Gly)
4g.125468812C>TCA358129249FAT4c.12206C>T (p.Ala4069Val)
c.6977C>T (p.Ala2326Val)
c.6989C>T (p.Ala2330Val)
c.12200C>T (p.Ala4067Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125468813A>CCA441204234FAT4c.12207A>C (p.Ala4069=)
c.6978A>C (p.Ala2326=)
c.6990A>C (p.Ala2330=)
c.12201A>C (p.Ala4067=)
4g.125468813A>GCA441204235FAT4c.12207A>G (p.Ala4069=)
c.6978A>G (p.Ala2326=)
c.6990A>G (p.Ala2330=)
c.12201A>G (p.Ala4067=)
4g.125468813A>TCA441204236FAT4c.12207A>T (p.Ala4069=)
c.6978A>T (p.Ala2326=)
c.6990A>T (p.Ala2330=)
c.12201A>T (p.Ala4067=)
4g.125468814G>ACA358129253FAT4c.12208G>A (p.Gly4070Arg)
c.6979G>A (p.Gly2327Arg)
c.6991G>A (p.Gly2331Arg)
c.12202G>A (p.Gly4068Arg)
4g.125468814G>CCA358129256FAT4c.12208G>C (p.Gly4070Arg)
c.6979G>C (p.Gly2327Arg)
c.6991G>C (p.Gly2331Arg)
c.12202G>C (p.Gly4068Arg)
4g.125468814G>TCA358129259FAT4c.12208G>T (p.Gly4070Ter)
c.6979G>T (p.Gly2327Ter)
c.6991G>T (p.Gly2331Ter)
c.12202G>T (p.Gly4068Ter)
4g.125468815G>ACA358129267FAT4c.12209G>A (p.Gly4070Glu)
c.6980G>A (p.Gly2327Glu)
c.6992G>A (p.Gly2331Glu)
c.12203G>A (p.Gly4068Glu)
4g.125468815G>CCA358129264FAT4c.12209G>C (p.Gly4070Ala)
c.6980G>C (p.Gly2327Ala)
c.6992G>C (p.Gly2331Ala)
c.12203G>C (p.Gly4068Ala)
4g.125468815G>TCA358129261FAT4c.12209G>T (p.Gly4070Val)
c.6980G>T (p.Gly2327Val)
c.6992G>T (p.Gly2331Val)
c.12203G>T (p.Gly4068Val)
4g.125468816A>CCA441204240FAT4c.12210A>C (p.Gly4070=)
c.6981A>C (p.Gly2327=)
c.6993A>C (p.Gly2331=)
c.12204A>C (p.Gly4068=)
4g.125468816A>GCA441204239FAT4c.12210A>G (p.Gly4070=)
c.6981A>G (p.Gly2327=)
c.6993A>G (p.Gly2331=)
c.12204A>G (p.Gly4068=)
4g.125468816A>TCA441204238FAT4c.12210A>T (p.Gly4070=)
c.6981A>T (p.Gly2327=)
c.6993A>T (p.Gly2331=)
c.12204A>T (p.Gly4068=)
4g.125468817A>CCA358129270FAT4c.12211A>C (p.Met4071Leu)
c.6982A>C (p.Met2328Leu)
c.6994A>C (p.Met2332Leu)
c.12205A>C (p.Met4069Leu)
4g.125468817A>GCA358129276FAT4c.12211A>G (p.Met4071Val)
c.6982A>G (p.Met2328Val)
c.6994A>G (p.Met2332Val)
c.12205A>G (p.Met4069Val)
 gnomAD v4 COSMIC COSMIC
4g.125468817A>TCA358129273FAT4c.12211A>T (p.Met4071Leu)
c.6982A>T (p.Met2328Leu)
c.6994A>T (p.Met2332Leu)
c.12205A>T (p.Met4069Leu)
4g.125468818T>ACA358129285FAT4c.12212T>A (p.Met4071Lys)
c.6983T>A (p.Met2328Lys)
c.6995T>A (p.Met2332Lys)
c.12206T>A (p.Met4069Lys)
4g.125468818T>CCA358129290FAT4c.12212T>C (p.Met4071Thr)
c.6983T>C (p.Met2328Thr)
c.6995T>C (p.Met2332Thr)
c.12206T>C (p.Met4069Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.125468818T>GCA358129287FAT4c.12212T>G (p.Met4071Arg)
c.6983T>G (p.Met2328Arg)
c.6995T>G (p.Met2332Arg)
c.12206T>G (p.Met4069Arg)
4g.125468818T=CA1491662412FAT4c.12212T= (p.Met4071=)
c.6983T= (p.Met2328=)
c.6995T= (p.Met2332=)
c.12206T= (p.Met4069=)
4g.125468819G>ACA358129294FAT4c.12213G>A (p.Met4071Ile)
c.6984G>A (p.Met2328Ile)
c.6996G>A (p.Met2332Ile)
c.12207G>A (p.Met4069Ile)
 gnomAD v4
4g.125468819G>CCA358129296FAT4c.12213G>C (p.Met4071Ile)
c.6984G>C (p.Met2328Ile)
c.6996G>C (p.Met2332Ile)
c.12207G>C (p.Met4069Ile)
4g.125468819G>TCA358129299FAT4c.12213G>T (p.Met4071Ile)
c.6984G>T (p.Met2328Ile)
c.6996G>T (p.Met2332Ile)
c.12207G>T (p.Met4069Ile)
4g.125468820G>ACA358129301FAT4c.12213+1G>A (n.12213+1G>A)
c.6984+1G>A (n.6984+1G>A)
c.6996+1G>A (n.6996+1G>A)
c.12207+1G>A (n.12207+1G>A)
4g.125468820G>CCA358129305FAT4c.12213+1G>C (n.12213+1G>C)
c.6984+1G>C (n.6984+1G>C)
c.6996+1G>C (n.6996+1G>C)
c.12207+1G>C (n.12207+1G>C)
4g.125468820G>TCA358129307FAT4c.12213+1G>T (n.12213+1G>T)
c.6984+1G>T (n.6984+1G>T)
c.6996+1G>T (n.6996+1G>T)
c.12207+1G>T (n.12207+1G>T)
4g.125468821T>ACA358129316FAT4c.12213+2T>A (n.12213+2T>A)
c.6984+2T>A (n.6984+2T>A)
c.6996+2T>A (n.6996+2T>A)
c.12207+2T>A (n.12207+2T>A)
4g.125468821T>CCA358129318FAT4c.12213+2T>C (n.12213+2T>C)
c.6984+2T>C (n.6984+2T>C)
c.6996+2T>C (n.6996+2T>C)
c.12207+2T>C (n.12207+2T>C)
4g.125468821T>GCA358129321FAT4c.12213+2T>G (n.12213+2T>G)
c.6984+2T>G (n.6984+2T>G)
c.6996+2T>G (n.6996+2T>G)
c.12207+2T>G (n.12207+2T>G)
4g.125468821_125468827delinsTAAGATACA1491662413FAT4c.12213+2_12213+8delinsTAAGATA (n.12213+2_12213+8delinsTAAGATA)
c.6984+2_6984+8delinsTAAGATA (n.6984+2_6984+8delinsTAAGATA)
c.6996+2_6996+8delinsTAAGATA (n.6996+2_6996+8delinsTAAGATA)
c.12207+2_12207+8delinsTAAGATA (n.12207+2_12207+8delinsTAAGATA)
4g.125468822_125468827delCA554717005FAT4c.12213+3_12213+8del (n.12213+3_12213+8del)
c.6984+3_6984+8del (n.6984+3_6984+8del)
c.6996+3_6996+8del (n.6996+3_6996+8del)
c.12207+3_12207+8del (n.12207+3_12207+8del)
 dbSNP gnomAD v2
4g.125468824G=CA1491662414FAT4c.12213+5G= (n.12213+5G=)
c.6984+5G= (n.6984+5G=)
c.6996+5G= (n.6996+5G=)
c.12207+5G= (n.12207+5G=)
4g.125468824G>TCA786686227FAT4c.12213+5G>T (n.12213+5G>T)
c.6984+5G>T (n.6984+5G>T)
c.6996+5G>T (n.6996+5G>T)
c.12207+5G>T (n.12207+5G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125468825A>CCA2672011537FAT4c.12213+6A>C (n.12213+6A>C)
c.6984+6A>C (n.6984+6A>C)
c.6996+6A>C (n.6996+6A>C)
c.12207+6A>C (n.12207+6A>C)
 gnomAD v4
4g.125468825A>GCA2672011536FAT4c.12213+6A>G (n.12213+6A>G)
c.6984+6A>G (n.6984+6A>G)
c.6996+6A>G (n.6996+6A>G)
c.12207+6A>G (n.12207+6A>G)
 gnomAD v4
4g.125468827A>GCA2672011538FAT4c.12213+8A>G (n.12213+8A>G)
c.6984+8A>G (n.6984+8A>G)
c.6996+8A>G (n.6996+8A>G)
c.12207+8A>G (n.12207+8A>G)
 ClinVar gnomAD v4
4g.125468829T>CCA2672011539FAT4c.12213+10T>C (n.12213+10T>C)
c.6984+10T>C (n.6984+10T>C)
c.6996+10T>C (n.6996+10T>C)
c.12207+10T>C (n.12207+10T>C)
 gnomAD v4
4g.125468829T>GCA554717009FAT4c.12213+10T>G (n.12213+10T>G)
c.6984+10T>G (n.6984+10T>G)
c.6996+10T>G (n.6996+10T>G)
c.12207+10T>G (n.12207+10T>G)
 dbSNP gnomAD v2
4g.125468829T=CA1491662415FAT4c.12213+10T= (n.12213+10T=)
c.6984+10T= (n.6984+10T=)
c.6996+10T= (n.6996+10T=)
c.12207+10T= (n.12207+10T=)
4g.125468830T>GCA2763422743FAT4c.12213+11T>G (n.12213+11T>G)
c.6984+11T>G (n.6984+11T>G)
c.6996+11T>G (n.6996+11T>G)
c.12207+11T>G (n.12207+11T>G)
4g.125468831C>ACA2672011540FAT4c.12213+12C>A (n.12213+12C>A)
c.6984+12C>A (n.6984+12C>A)
c.6996+12C>A (n.6996+12C>A)
c.12207+12C>A (n.12207+12C>A)
 gnomAD v4
4g.125468832A=CA1491662416FAT4c.12213+13A= (n.12213+13A=)
c.6984+13A= (n.6984+13A=)
c.6996+13A= (n.6996+13A=)
c.12207+13A= (n.12207+13A=)
4g.125468832A>CCA2672011541FAT4c.12213+13A>C (n.12213+13A>C)
c.6984+13A>C (n.6984+13A>C)
c.6996+13A>C (n.6996+13A>C)
c.12207+13A>C (n.12207+13A>C)
 gnomAD v4
4g.125468832A>GCA554717011FAT4c.12213+13A>G (n.12213+13A>G)
c.6984+13A>G (n.6984+13A>G)
c.6996+13A>G (n.6996+13A>G)
c.12207+13A>G (n.12207+13A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468833T>CCA3074021FAT4c.12213+14T>C (n.12213+14T>C)
c.6984+14T>C (n.6984+14T>C)
c.6996+14T>C (n.6996+14T>C)
c.12207+14T>C (n.12207+14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468833T=CA1491662417FAT4c.12213+14T= (n.12213+14T=)
c.6984+14T= (n.6984+14T=)
c.6996+14T= (n.6996+14T=)
c.12207+14T= (n.12207+14T=)
4g.125468834T>CCA2672011542FAT4c.12213+15T>C (n.12213+15T>C)
c.6984+15T>C (n.6984+15T>C)
c.6996+15T>C (n.6996+15T>C)
c.12207+15T>C (n.12207+15T>C)
 gnomAD v4
4g.125468836T>GCA2672011543FAT4c.12213+17T>G (n.12213+17T>G)
c.6984+17T>G (n.6984+17T>G)
c.6996+17T>G (n.6996+17T>G)
c.12207+17T>G (n.12207+17T>G)
 gnomAD v4
4g.125468837A=CA1491662418FAT4c.12213+18A= (n.12213+18A=)
c.6984+18A= (n.6984+18A=)
c.6996+18A= (n.6996+18A=)
c.12207+18A= (n.12207+18A=)
4g.125468837A>GCA3074022FAT4c.12213+18A>G (n.12213+18A>G)
c.6984+18A>G (n.6984+18A>G)
c.6996+18A>G (n.6996+18A>G)
c.12207+18A>G (n.12207+18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468837A>TCA554717017FAT4c.12213+18A>T (n.12213+18A>T)
c.6984+18A>T (n.6984+18A>T)
c.6996+18A>T (n.6996+18A>T)
c.12207+18A>T (n.12207+18A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468838T>CCA3074023FAT4c.12213+19T>C (n.12213+19T>C)
c.6984+19T>C (n.6984+19T>C)
c.6996+19T>C (n.6996+19T>C)
c.12207+19T>C (n.12207+19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468838T=CA1491662419FAT4c.12213+19T= (n.12213+19T=)
c.6984+19T= (n.6984+19T=)
c.6996+19T= (n.6996+19T=)
c.12207+19T= (n.12207+19T=)
4g.125468845_125468847delCA2506168583FAT4c.12213+26_12213+28del (n.12213+26_12213+28del)
c.6984+26_6984+28del (n.6984+26_6984+28del)
c.6996+26_6996+28del (n.6996+26_6996+28del)
c.12207+26_12207+28del (n.12207+26_12207+28del)
 ClinVar gnomAD v4
4g.125468840G>ACA3074024FAT4c.12213+21G>A (n.12213+21G>A)
c.6984+21G>A (n.6984+21G>A)
c.6996+21G>A (n.6996+21G>A)
c.12207+21G>A (n.12207+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468840G=CA1491662420FAT4c.12213+21G= (n.12213+21G=)
c.6984+21G= (n.6984+21G=)
c.6996+21G= (n.6996+21G=)
c.12207+21G= (n.12207+21G=)
4g.125468840G>TCA2763422744FAT4c.12213+21G>T (n.12213+21G>T)
c.6984+21G>T (n.6984+21G>T)
c.6996+21G>T (n.6996+21G>T)
c.12207+21G>T (n.12207+21G>T)
4g.125468841T>CCA554717021FAT4c.12213+22T>C (n.12213+22T>C)
c.6984+22T>C (n.6984+22T>C)
c.6996+22T>C (n.6996+22T>C)
c.12207+22T>C (n.12207+22T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125468841T=CA1491662421FAT4c.12213+22T= (n.12213+22T=)
c.6984+22T= (n.6984+22T=)
c.6996+22T= (n.6996+22T=)
c.12207+22T= (n.12207+22T=)
4g.125468842delCA2604301795FAT4c.12213+23del (n.12213+23del)
c.6984+23del (n.6984+23del)
c.6996+23del (n.6996+23del)
c.12207+23del (n.12207+23del)
 gnomAD v3 gnomAD v4
4g.125468842T>CCA554717023FAT4c.12213+23T>C (n.12213+23T>C)
c.6984+23T>C (n.6984+23T>C)
c.6996+23T>C (n.6996+23T>C)
c.12207+23T>C (n.12207+23T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125468842T=CA1491662422FAT4c.12213+23T= (n.12213+23T=)
c.6984+23T= (n.6984+23T=)
c.6996+23T= (n.6996+23T=)
c.12207+23T= (n.12207+23T=)
4g.125468843G>TCA2672011544FAT4c.12213+24G>T (n.12213+24G>T)
c.6984+24G>T (n.6984+24G>T)
c.6996+24G>T (n.6996+24G>T)
c.12207+24G>T (n.12207+24G>T)
 gnomAD v4
4g.125468844T>CCA2578191186FAT4c.12213+25T>C (n.12213+25T>C)
c.6984+25T>C (n.6984+25T>C)
c.6996+25T>C (n.6996+25T>C)
c.12207+25T>C (n.12207+25T>C)
 gnomAD v4
4g.125468846G>ACA2672011545FAT4c.12213+27G>A (n.12213+27G>A)
c.6984+27G>A (n.6984+27G>A)
c.6996+27G>A (n.6996+27G>A)
c.12207+27G>A (n.12207+27G>A)
 gnomAD v4
4g.125468846G>TCA2578191187FAT4c.12213+27G>T (n.12213+27G>T)
c.6984+27G>T (n.6984+27G>T)
c.6996+27G>T (n.6996+27G>T)
c.12207+27G>T (n.12207+27G>T)
 gnomAD v4
4g.125468847T>CCA554717024FAT4c.12213+28T>C (n.12213+28T>C)
c.6984+28T>C (n.6984+28T>C)
c.6996+28T>C (n.6996+28T>C)
c.12207+28T>C (n.12207+28T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468847T=CA1491662423FAT4c.12213+28T= (n.12213+28T=)
c.6984+28T= (n.6984+28T=)
c.6996+28T= (n.6996+28T=)
c.12207+28T= (n.12207+28T=)
4g.125468848A=CA1491662424FAT4c.12213+29A= (n.12213+29A=)
c.6984+29A= (n.6984+29A=)
c.6996+29A= (n.6996+29A=)
c.12207+29A= (n.12207+29A=)
4g.125468848A>GCA1067674304FAT4c.12213+29A>G (n.12213+29A>G)
c.6984+29A>G (n.6984+29A>G)
c.6996+29A>G (n.6996+29A>G)
c.12207+29A>G (n.12207+29A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125468849T>GCA2672011546FAT4c.12213+30T>G (n.12213+30T>G)
c.6984+30T>G (n.6984+30T>G)
c.6996+30T>G (n.6996+30T>G)
c.12207+30T>G (n.12207+30T>G)
 gnomAD v4
4g.125468851T>ACA649228565FAT4c.12213+32T>A (n.12213+32T>A)
c.6984+32T>A (n.6984+32T>A)
c.6996+32T>A (n.6996+32T>A)
c.12207+32T>A (n.12207+32T>A)
 COSMIC
4g.125468851_125468852delinsTCCA1491662425FAT4c.12213+32_12213+33delinsTC (n.12213+32_12213+33delinsTC)
c.6984+32_6984+33delinsTC (n.6984+32_6984+33delinsTC)
c.6996+32_6996+33delinsTC (n.6996+32_6996+33delinsTC)
c.12207+32_12207+33delinsTC (n.12207+32_12207+33delinsTC)
4g.125468852C>ACA2672011547FAT4c.12213+33C>A (n.12213+33C>A)
c.6984+33C>A (n.6984+33C>A)
c.6996+33C>A (n.6996+33C>A)
c.12207+33C>A (n.12207+33C>A)
 gnomAD v4
4g.125468853delCA554717025FAT4c.12213+34del (n.12213+34del)
c.6984+34del (n.6984+34del)
c.6996+34del (n.6996+34del)
c.12207+34del (n.12207+34del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468853C>ACA2672011548FAT4c.12213+34C>A (n.12213+34C>A)
c.6984+34C>A (n.6984+34C>A)
c.6996+34C>A (n.6996+34C>A)
c.12207+34C>A (n.12207+34C>A)
 gnomAD v4
4g.125468853C=CA1491662426FAT4c.12213+34C= (n.12213+34C=)
c.6984+34C= (n.6984+34C=)
c.6996+34C= (n.6996+34C=)
c.12207+34C= (n.12207+34C=)
4g.125468853C>GCA3074025FAT4c.12213+34C>G (n.12213+34C>G)
c.6984+34C>G (n.6984+34C>G)
c.6996+34C>G (n.6996+34C>G)
c.12207+34C>G (n.12207+34C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468855A=CA1491662427FAT4c.12213+36A= (n.12213+36A=)
c.6984+36A= (n.6984+36A=)
c.6996+36A= (n.6996+36A=)
c.12207+36A= (n.12207+36A=)
4g.125468855A>CCA2581433167FAT4c.12213+36A>C (n.12213+36A>C)
c.6984+36A>C (n.6984+36A>C)
c.6996+36A>C (n.6996+36A>C)
c.12207+36A>C (n.12207+36A>C)
4g.125468855A>GCA3074026FAT4c.12213+36A>G (n.12213+36A>G)
c.6984+36A>G (n.6984+36A>G)
c.6996+36A>G (n.6996+36A>G)
c.12207+36A>G (n.12207+36A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468855A>TCA2581433166FAT4c.12213+36A>T (n.12213+36A>T)
c.6984+36A>T (n.6984+36A>T)
c.6996+36A>T (n.6996+36A>T)
c.12207+36A>T (n.12207+36A>T)
4g.125468856C>ACA2672011549FAT4c.12213+37C>A (n.12213+37C>A)
c.6984+37C>A (n.6984+37C>A)
c.6996+37C>A (n.6996+37C>A)
c.12207+37C>A (n.12207+37C>A)
 gnomAD v4
4g.125468856C>TCA2672011550FAT4c.12213+37C>T (n.12213+37C>T)
c.6984+37C>T (n.6984+37C>T)
c.6996+37C>T (n.6996+37C>T)
c.12207+37C>T (n.12207+37C>T)
 gnomAD v4
4g.125468857T>CCA2672011551FAT4c.12213+38T>C (n.12213+38T>C)
c.6984+38T>C (n.6984+38T>C)
c.6996+38T>C (n.6996+38T>C)
c.12207+38T>C (n.12207+38T>C)
 gnomAD v4
4g.125468858G>TCA2672011552FAT4c.12213+39G>T (n.12213+39G>T)
c.6984+39G>T (n.6984+39G>T)
c.6996+39G>T (n.6996+39G>T)
c.12207+39G>T (n.12207+39G>T)
 gnomAD v4
4g.125468859G>TCA2672011553FAT4c.12213+40G>T (n.12213+40G>T)
c.6984+40G>T (n.6984+40G>T)
c.6996+40G>T (n.6996+40G>T)
c.12207+40G>T (n.12207+40G>T)
 gnomAD v4
4g.125468860A=CA1491662428FAT4c.12213+41A= (n.12213+41A=)
c.6984+41A= (n.6984+41A=)
c.6996+41A= (n.6996+41A=)
c.12207+41A= (n.12207+41A=)
4g.125468860A>GCA554717027FAT4c.12213+41A>G (n.12213+41A>G)
c.6984+41A>G (n.6984+41A>G)
c.6996+41A>G (n.6996+41A>G)
c.12207+41A>G (n.12207+41A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125468861T>GCA3074027FAT4c.12213+42T>G (n.12213+42T>G)
c.6984+42T>G (n.6984+42T>G)
c.6996+42T>G (n.6996+42T>G)
c.12207+42T>G (n.12207+42T>G)
 dbSNP ExAC gnomAD v2
4g.125468861T=CA1491662429FAT4c.12213+42T= (n.12213+42T=)
c.6984+42T= (n.6984+42T=)
c.6996+42T= (n.6996+42T=)
c.12207+42T= (n.12207+42T=)
4g.125468862C>ACA2672011554FAT4c.12213+43C>A (n.12213+43C>A)
c.6984+43C>A (n.6984+43C>A)
c.6996+43C>A (n.6996+43C>A)
c.12207+43C>A (n.12207+43C>A)
 gnomAD v4
4g.125468862C=CA1491662430FAT4c.12213+43C= (n.12213+43C=)
c.6984+43C= (n.6984+43C=)
c.6996+43C= (n.6996+43C=)
c.12207+43C= (n.12207+43C=)
4g.125468862C>TCA3074028FAT4c.12213+43C>T (n.12213+43C>T)
c.6984+43C>T (n.6984+43C>T)
c.6996+43C>T (n.6996+43C>T)
c.12207+43C>T (n.12207+43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468865C>ACA2672011555FAT4c.12213+46C>A (n.12213+46C>A)
c.6984+46C>A (n.6984+46C>A)
c.6996+46C>A (n.6996+46C>A)
c.12207+46C>A (n.12207+46C>A)
 gnomAD v4
4g.125468865C=CA1491662431FAT4c.12213+46C= (n.12213+46C=)
c.6984+46C= (n.6984+46C=)
c.6996+46C= (n.6996+46C=)
c.12207+46C= (n.12207+46C=)
4g.125468865C>TCA3074029FAT4c.12213+46C>T (n.12213+46C>T)
c.6984+46C>T (n.6984+46C>T)
c.6996+46C>T (n.6996+46C>T)
c.12207+46C>T (n.12207+46C>T)
 dbSNP ExAC gnomAD v4
4g.125468867A=CA1491662432FAT4c.12213+48A= (n.12213+48A=)
c.6984+48A= (n.6984+48A=)
c.6996+48A= (n.6996+48A=)
c.12207+48A= (n.12207+48A=)
4g.125468867A>CCA2581433168FAT4c.12213+48A>C (n.12213+48A>C)
c.6984+48A>C (n.6984+48A>C)
c.6996+48A>C (n.6996+48A>C)
c.12207+48A>C (n.12207+48A>C)
 gnomAD v4
4g.125468867A>GCA3074030FAT4c.12213+48A>G (n.12213+48A>G)
c.6984+48A>G (n.6984+48A>G)
c.6996+48A>G (n.6996+48A>G)
c.12207+48A>G (n.12207+48A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125468867A>TCA2581433169FAT4c.12213+48A>T (n.12213+48A>T)
c.6984+48A>T (n.6984+48A>T)
c.6996+48A>T (n.6996+48A>T)
c.12207+48A>T (n.12207+48A>T)
4g.125468870A>GCA2672011556FAT4c.12213+51A>G (n.12213+51A>G)
c.6984+51A>G (n.6984+51A>G)
c.6996+51A>G (n.6996+51A>G)
c.12207+51A>G (n.12207+51A>G)
 gnomAD v4
4g.125468871A=CA1491662433FAT4c.12213+52A= (n.12213+52A=)
c.6984+52A= (n.6984+52A=)
c.6996+52A= (n.6996+52A=)
c.12207+52A= (n.12207+52A=)
4g.125468871A>CCA2672011557FAT4c.12213+52A>C (n.12213+52A>C)
c.6984+52A>C (n.6984+52A>C)
c.6996+52A>C (n.6996+52A>C)
c.12207+52A>C (n.12207+52A>C)
 gnomAD v4
4g.125468871A>GCA3074031FAT4c.12213+52A>G (n.12213+52A>G)
c.6984+52A>G (n.6984+52A>G)
c.6996+52A>G (n.6996+52A>G)
c.12207+52A>G (n.12207+52A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125468872A=CA1491662434FAT4c.12213+53A= (n.12213+53A=)
c.6984+53A= (n.6984+53A=)
c.6996+53A= (n.6996+53A=)
c.12207+53A= (n.12207+53A=)
4g.125468872A>CCA2672011558FAT4c.12213+53A>C (n.12213+53A>C)
c.6984+53A>C (n.6984+53A>C)
c.6996+53A>C (n.6996+53A>C)
c.12207+53A>C (n.12207+53A>C)
 gnomAD v4
4g.125468872A>GCA1067674315FAT4c.12213+53A>G (n.12213+53A>G)
c.6984+53A>G (n.6984+53A>G)
c.6996+53A>G (n.6996+53A>G)
c.12207+53A>G (n.12207+53A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125468873G>ACA2672011559FAT4c.12213+54G>A (n.12213+54G>A)
c.6984+54G>A (n.6984+54G>A)
c.6996+54G>A (n.6996+54G>A)
c.12207+54G>A (n.12207+54G>A)
 gnomAD v4
4g.125468873G>TCA2672011560FAT4c.12213+54G>T (n.12213+54G>T)
c.6984+54G>T (n.6984+54G>T)
c.6996+54G>T (n.6996+54G>T)
c.12207+54G>T (n.12207+54G>T)
 gnomAD v4

Number of alleles fetched