Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240874541_240875273delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCCA1339333857AGXTc.680+479_776+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC
n.333-568_428+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC
2g.240874542_240875273delinsTGAGACA275848AGXTc.680+480_776+69delinsTGAGA
n.333-567_428+69delinsTGAGA
ClinVar dbSNP
2g.240875101_240875148dupCA540536870AGXTc.681-8_720dup
n.333-8_372dup
dbSNP gnomAD v2 gnomAD v4
2g.240875117_240875134delCA2577302675AGXTc.689_706del (p.Met230_Thr235del)
n.341_358del
2g.240875132C>ACA351318029AGXTc.704C>A (p.Thr235Lys)
n.356C>A
2g.240875132C=CA1339334177AGXTc.704C= (p.Thr235=)
n.356C=
2g.240875132C>GCA351318031AGXTc.704C>G (p.Thr235Arg)
n.356C>G
2g.240875132C>TCA2209213AGXTc.704C>T (p.Thr235Met)
n.356C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240875133G>ACA275585AGXTc.705G>A (p.Thr235=)
n.357G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240875133G>CCA432024384AGXTc.705G>C (p.Thr235=)
n.357G>C
2g.240875133G=CA1339334178AGXTc.705G= (p.Thr235=)
n.357G=
2g.240875133G>TCA432024385AGXTc.705G>T (p.Thr235=)
n.357G>T
gnomAD v4
2g.240875134A>CCA351318037AGXTc.706A>C (p.Lys236Gln)
n.358A>C
2g.240875134A>GCA351318038AGXTc.706A>G (p.Lys236Glu)
n.358A>G
2g.240875134A>TCA351318041AGXTc.706A>T (p.Lys236Ter)
n.358A>T
ClinVar
2g.240875135A>CCA351318043AGXTc.707A>C (p.Lys236Thr)
n.359A>C
2g.240875135A>GCA351318047AGXTc.707A>G (p.Lys236Arg)
n.359A>G
2g.240875135A>TCA351318046AGXTc.707A>T (p.Lys236Met)
n.359A>T
2g.240875136G>ACA432024386AGXTc.708G>A (p.Lys236=)
n.360G>A
gnomAD v4
2g.240875136G>CCA351318049AGXTc.708G>C (p.Lys236Asn)
n.360G>C
2g.240875136G>TCA351318050AGXTc.708G>T (p.Lys236Asn)
n.360G>T
2g.240875137C>ACA351318053AGXTc.709C>A (p.Pro237Thr)
n.361C>A
2g.240875137C=CA1339334179AGXTc.709C= (p.Pro237=)
n.361C=
2g.240875137C>GCA2209214AGXTc.709C>G (p.Pro237Ala)
n.361C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240875137C>TCA351318056AGXTc.709C>T (p.Pro237Ser)
n.361C>T
2g.240875138C>ACA351318058AGXTc.710C>A (p.Pro237His)
n.362C>A
2g.240875138C=CA1339334180AGXTc.710C= (p.Pro237=)
n.362C=
2g.240875138C>GCA351318059AGXTc.710C>G (p.Pro237Arg)
n.362C>G
2g.240875138C>TCA2209215AGXTc.710C>T (p.Pro237Leu)
n.362C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240875139C>ACA432024387AGXTc.711C>A (p.Pro237=)
n.363C>A
dbSNP
2g.240875139C=CA1339334181AGXTc.711C= (p.Pro237=)
n.363C=
2g.240875139C>GCA2209216AGXTc.711C>G (p.Pro237=)
n.363C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240875139C>TCA432024388AGXTc.711C>T (p.Pro237=)
n.363C>T
ClinVar dbSNP gnomAD v4
2g.240875140T>ACA351318065AGXTc.712T>A (p.Phe238Ile)
n.364T>A
2g.240875140T>CCA351318068AGXTc.712T>C (p.Phe238Leu)
n.364T>C
gnomAD v4
2g.240875140T>GCA68179707AGXTc.712T>G (p.Phe238Val)
n.364T>G
dbSNP
2g.240875140T=CA1339334182AGXTc.712T= (p.Phe238=)
n.364T=
2g.240875141T>ACA351318070AGXTc.713T>A (p.Phe238Tyr)
n.365T>A
2g.240875141T>CCA351318071AGXTc.713T>C (p.Phe238Ser)
n.365T>C
2g.240875141T>GCA351318072AGXTc.713T>G (p.Phe238Cys)
n.365T>G
2g.240875142C>ACA351318075AGXTc.714C>A (p.Phe238Leu)
n.366C>A
2g.240875142C>GCA351318077AGXTc.714C>G (p.Phe238Leu)
n.366C>G
2g.240875142C>TCA432024390AGXTc.714C>T (p.Phe238=)
n.366C>T
gnomAD v4
2g.240875142dupCA2664009013AGXTc.714dup (p.Ser239LeufsTer16)
n.366dup
gnomAD v4
2g.240875144_240875146delCA2695197716AGXTc.716_718del (p.Ser239del)
n.368_370del
ClinVar
2g.240875143T>ACA351318079AGXTc.715T>A (p.Ser239Thr)
n.367T>A
2g.240875143T>CCA351318081AGXTc.715T>C (p.Ser239Pro)
n.367T>C
2g.240875143T>GCA351318083AGXTc.715T>G (p.Ser239Ala)
n.367T>G
2g.240875144C>ACA351318085AGXTc.716C>A (p.Ser239Tyr)
n.368C>A
2g.240875144C>GCA351318086AGXTc.716C>G (p.Ser239Cys)
n.368C>G

Number of alleles fetched