Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47412570_47415848delCA331682MSH2c.792+10_943-448del
c.594+10_745-448del
n.864+10_1015-448del
n.854+10_1005-448del
ClinVar
2g.47414262_47414868delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGTCA2495833736MSH2c.793-7_942+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT
c.595-7_744+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT
n.865-7_1014+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT
n.855-7_1004+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT
2g.47414263_47414868delCA331685MSH2c.793-6_942+450del
c.595-6_744+450del
n.865-6_1014+450del
n.855-6_1004+450del
ClinVar dbSNP
2g.47414267_47416282delCA2499216016MSH2c.793-2_943-14del
c.595-2_745-14del
n.865-2_1015-14del
n.855-2_1005-14del
ClinVar
2g.47414318_47414507delCA2580067008MSH2c.842_942+89del
c.644_744+89del
n.914_1014+89del
n.904_1004+89del
ClinVar
2g.47414377A=CA2495834015MSH2c.901A= (p.Lys301=)
c.703A= (p.Lys235=)
n.973A=
n.963A=
2g.47414377A>CCA346732943MSH2c.901A>C (p.Lys301Gln)
c.703A>C (p.Lys235Gln)
n.973A>C
n.963A>C
ClinVar
2g.47414377A>GCA346732944MSH2c.901A>G (p.Lys301Glu)
c.703A>G (p.Lys235Glu)
n.973A>G
n.963A>G
2g.47414377A>TCA022518MSH2c.901A>T (p.Lys301Ter)
c.703A>T (p.Lys235Ter)
n.973A>T
n.963A>T
ClinVar dbSNP
2g.47414378A>CCA346732945MSH2c.902A>C (p.Lys301Thr)
c.704A>C (p.Lys235Thr)
n.974A>C
n.964A>C
2g.47414378A>GCA346732946MSH2c.902A>G (p.Lys301Arg)
c.704A>G (p.Lys235Arg)
n.974A>G
n.964A>G
ClinVar
2g.47414378A>TCA346732947MSH2c.902A>T (p.Lys301Ile)
c.704A>T (p.Lys235Ile)
n.974A>T
n.964A>T
dbSNP
2g.47414379A>CCA346732948MSH2c.903A>C (p.Lys301Asn)
c.705A>C (p.Lys235Asn)
n.975A>C
n.965A>C
2g.47414379A>GCA425970192MSH2c.903A>G (p.Lys301=)
c.705A>G (p.Lys235=)
n.975A>G
n.965A>G
gnomAD v4
2g.47414379A>TCA346732949MSH2c.903A>T (p.Lys301Asn)
c.705A>T (p.Lys235Asn)
n.975A>T
n.965A>T
dbSNP
2g.47414380T>ACA346732951MSH2c.904T>A (p.Leu302Met)
c.706T>A (p.Leu236Met)
n.976T>A
n.966T>A
ClinVar dbSNP gnomAD v4
2g.47414380T>CCA10577959MSH2c.904T>C (p.Leu302=)
c.706T>C (p.Leu236=)
n.976T>C
n.966T>C
ClinVar dbSNP
2g.47414380T>GCA346732950MSH2c.904T>G (p.Leu302Val)
c.706T>G (p.Leu236Val)
n.976T>G
n.966T>G
2g.47414380T=CA2495834016MSH2c.904T= (p.Leu302=)
c.706T= (p.Leu236=)
n.976T=
n.966T=
2g.47414381T>ACA022523MSH2c.905T>A (p.Leu302Ter)
c.707T>A (p.Leu236Ter)
n.977T>A
n.967T>A
ClinVar dbSNP
2g.47414381T>CCA10577960MSH2c.905T>C (p.Leu302Ser)
c.707T>C (p.Leu236Ser)
n.977T>C
n.967T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47414381T>GCA346732952MSH2c.905T>G (p.Leu302Trp)
c.707T>G (p.Leu236Trp)
n.977T>G
n.967T>G
gnomAD v4
2g.47414381T=CA2495834017MSH2c.905T= (p.Leu302=)
c.707T= (p.Leu236=)
n.977T=
n.967T=
2g.47414382G>ACA022528MSH2c.906G>A (p.Leu302=)
c.708G>A (p.Leu236=)
n.978G>A
n.968G>A
ClinVar dbSNP
2g.47414382G>CCA346732953MSH2c.906G>C (p.Leu302Phe)
c.708G>C (p.Leu236Phe)
n.978G>C
n.968G>C
ClinVar dbSNP
2g.47414382G=CA2495834018MSH2c.906G= (p.Leu302=)
c.708G= (p.Leu236=)
n.978G=
n.968G=
2g.47414382G>TCA346732954MSH2c.906G>T (p.Leu302Phe)
c.708G>T (p.Leu236Phe)
n.978G>T
n.968G>T
2g.47414383G>ACA16617568MSH2c.907G>A (p.Asp303Asn)
c.709G>A (p.Asp237Asn)
n.979G>A
n.969G>A
ClinVar dbSNP
2g.47414383G>CCA346732955MSH2c.907G>C (p.Asp303His)
c.709G>C (p.Asp237His)
n.979G>C
n.969G>C
ClinVar dbSNP
2g.47414383G=CA2495834019MSH2c.907G= (p.Asp303=)
c.709G= (p.Asp237=)
n.979G=
n.969G=
2g.47414383G>TCA346732956MSH2c.907G>T (p.Asp303Tyr)
c.709G>T (p.Asp237Tyr)
n.979G>T
n.969G>T
dbSNP
2g.47414384delCA2580067061MSH2c.908del (p.Asp303ValfsTer28)
c.710del (p.Asp237ValfsTer28)
n.980del
n.970del
ClinVar
2g.47414384A>CCA346732957MSH2c.908A>C (p.Asp303Ala)
c.710A>C (p.Asp237Ala)
n.980A>C
n.970A>C
2g.47414384A>GCA346732958MSH2c.908A>G (p.Asp303Gly)
c.710A>G (p.Asp237Gly)
n.980A>G
n.970A>G
dbSNP gnomAD v4
2g.47414384A>TCA346732959MSH2c.908A>T (p.Asp303Val)
c.710A>T (p.Asp237Val)
n.980A>T
n.970A>T
ClinVar dbSNP
2g.47414385T>ACA346732960MSH2c.909T>A (p.Asp303Glu)
c.711T>A (p.Asp237Glu)
n.981T>A
n.971T>A
dbSNP gnomAD v3 gnomAD v4
2g.47414385T>CCA425970222MSH2c.909T>C (p.Asp303=)
c.711T>C (p.Asp237=)
n.981T>C
n.971T>C
ClinVar
2g.47414385T>GCA346732961MSH2c.909T>G (p.Asp303Glu)
c.711T>G (p.Asp237Glu)
n.981T>G
n.971T>G
dbSNP
2g.47414386A=CA2495834020MSH2c.910A= (p.Ile304=)
c.712A= (p.Ile238=)
n.982A=
n.972A=
2g.47414386A>CCA346732964MSH2c.910A>C (p.Ile304Leu)
c.712A>C (p.Ile238Leu)
n.982A>C
n.972A>C
dbSNP
2g.47414386A>GCA346732962MSH2c.910A>G (p.Ile304Val)
c.712A>G (p.Ile238Val)
n.982A>G
n.972A>G
ClinVar dbSNP
2g.47414386A>TCA346732963MSH2c.910A>T (p.Ile304Phe)
c.712A>T (p.Ile238Phe)
n.982A>T
n.972A>T
ClinVar dbSNP
2g.47414387T>ACA346732965MSH2c.911T>A (p.Ile304Asn)
c.713T>A (p.Ile238Asn)
n.983T>A
n.973T>A
dbSNP
2g.47414387T>CCA46684227MSH2c.911T>C (p.Ile304Thr)
c.713T>C (p.Ile238Thr)
n.983T>C
n.973T>C
ClinVar dbSNP gnomAD v4
2g.47414387T>GCA346732966MSH2c.911T>G (p.Ile304Ser)
c.713T>G (p.Ile238Ser)
n.983T>G
n.973T>G
2g.47414387T=CA2495834021MSH2c.911T= (p.Ile304=)
c.713T= (p.Ile238=)
n.983T=
n.973T=
2g.47414388dupCA337334MSH2c.912dup (p.Ala305CysfsTer7)
c.714dup (p.Ala239CysfsTer7)
n.984dup
n.974dup
ClinVar dbSNP
2g.47414388T>ACA425970243MSH2c.912T>A (p.Ile304=)
c.714T>A (p.Ile238=)
n.984T>A
n.974T>A
2g.47414388T>CCA022533MSH2c.912T>C (p.Ile304=)
c.714T>C (p.Ile238=)
n.984T>C
n.974T>C
ClinVar dbSNP
2g.47414388T>GCA346732967MSH2c.912T>G (p.Ile304Met)
c.714T>G (p.Ile238Met)
n.984T>G
n.974T>G

Number of alleles fetched