Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47803431_47807699delCA1139656956c.2887_*839del
c.3184_*839del
c.169+498_169+4766del (p.=)
c.*124+297_*124+4565del (p.=)
ClinVar
2g.47806202_47806641delCA2499216121MSH6c.3647-2_3991del
c.3257-2_3601del
c.3350-2_3694del
c.169+1556_169+1995del (p.=)
c.*124+1355_*124+1794del (p.=)
c.*2994-2_*3338del
c.2741-2_3085del
c.551-2_892del
c.3464-2_3808del
c.3647-2_4084del
c.3464-2_3901del
c.3350-2_3787del
c.2741-2_3178del
ClinVar
2g.47806235_47806263dupCA330551MSH6c.3678_3706dup (p.Ala1236GlufsTer2)
c.3288_3316dup (p.Ala1106GlufsTer2)
c.3381_3409dup (p.Ala1137GlufsTer2)
c.169+1932_169+1960dup (p.=)
c.*124+1731_*124+1759dup (p.=)
c.*3025_*3053dup (p.=)
c.2772_2800dup (p.Ala934GlufsTer2)
c.582_610dup (p.Ala204GlufsTer2)
c.3495_3523dup (p.Ala1175GlufsTer2)
ClinVar dbSNP dbSNP
2g.47806253_47806257delinsTAAAGCA2496054062MSH6c.3696_3700delinsTAAAG (p.Val1232=)
c.3306_3310delinsTAAAG (p.Val1102=)
c.3399_3403delinsTAAAG (p.Val1133=)
c.169+1938_169+1942delinsCTTTA (p.=)
c.*124+1737_*124+1741delinsCTTTA (p.=)
c.*3043_*3047delinsTAAAG (p.=)
c.2790_2794delinsTAAAG (p.Val930=)
c.600_604delinsTAAAG (p.Val200=)
c.3513_3517delinsTAAAG (p.Val1171=)
2g.47806256dupCA1139656974MSH6c.3699dup (p.Glu1234ArgfsTer4)
c.3309dup (p.Glu1104ArgfsTer4)
c.3402dup (p.Glu1135ArgfsTer4)
c.169+1941dup (p.=)
c.*124+1740dup (p.=)
c.*3046dup (p.=)
c.2793dup (p.Glu932ArgfsTer4)
c.603dup (p.Glu202ArgfsTer4)
c.3516dup (p.Glu1173ArgfsTer4)
ClinVar dbSNP
2g.47806256delCA891843278MSH6c.3699del (p.Glu1234AsnfsTer6)
c.3309del (p.Glu1104AsnfsTer6)
c.3402del (p.Glu1135AsnfsTer6)
c.169+1941del (p.=)
c.*124+1740del (p.=)
c.*3046del (p.=)
c.2793del (p.Glu932AsnfsTer6)
c.603del (p.Glu202AsnfsTer6)
c.3516del (p.Glu1173AsnfsTer6)
ClinVar dbSNP
2g.47806256_47806259dupCA279773MSH6c.3699_3702dup (p.Leu1235ArgfsTer4)
c.3309_3312dup (p.Leu1105ArgfsTer4)
c.3402_3405dup (p.Leu1136ArgfsTer4)
c.169+1938_169+1941dup (p.=)
c.*124+1737_*124+1740dup (p.=)
c.*3046_*3049dup (p.=)
c.2793_2796dup (p.Leu933ArgfsTer4)
c.603_606dup (p.Leu203ArgfsTer4)
c.3516_3519dup (p.Leu1174ArgfsTer4)
ClinVar dbSNP dbSNP
2g.47806255_47806259dupCA645369301MSH6c.3698_3702dup (p.Leu1235LysfsTer7)
c.3308_3312dup (p.Leu1105LysfsTer7)
c.3401_3405dup (p.Leu1136LysfsTer7)
c.169+1937_169+1941dup (p.=)
c.*124+1736_*124+1740dup (p.=)
c.*3045_*3049dup (p.=)
c.2792_2796dup (p.Leu933LysfsTer7)
c.602_606dup (p.Leu203LysfsTer7)
c.3515_3519dup (p.Leu1174LysfsTer7)
ClinVar dbSNP
2g.47806256_47806259delCA013885MSH6c.3699_3702del (p.Lys1233AsnfsTer6)
c.3309_3312del (p.Lys1103AsnfsTer6)
c.3402_3405del (p.Lys1134AsnfsTer6)
c.169+1938_169+1941del (p.=)
c.*124+1737_*124+1740del (p.=)
c.*3046_*3049del (p.=)
c.2793_2796del (p.Lys931AsnfsTer6)
c.603_606del (p.Lys201AsnfsTer6)
c.3516_3519del (p.Lys1172AsnfsTer6)
ClinVar dbSNP ExAC gnomAD
2g.47806256A=CA2496054071MSH6c.3699A= (p.Lys1233=)
c.3309A= (p.Lys1103=)
c.3402A= (p.Lys1134=)
c.169+1939T= (p.=)
c.*124+1738T= (p.=)
c.*3046A= (p.=)
c.2793A= (p.Lys931=)
c.603A= (p.Lys201=)
c.3516A= (p.Lys1172=)
2g.47806256A>CCA346760975MSH6c.3699A>C (p.Lys1233Asn)
c.3309A>C (p.Lys1103Asn)
c.3402A>C (p.Lys1134Asn)
c.169+1939T>G (p.=)
c.*124+1738T>G (p.=)
c.*3046A>C (p.=)
c.2793A>C (p.Lys931Asn)
c.603A>C (p.Lys201Asn)
c.3516A>C (p.Lys1172Asn)
2g.47806256A>GCA10578155MSH6c.3699A>G (p.Lys1233=)
c.3309A>G (p.Lys1103=)
c.3402A>G (p.Lys1134=)
c.169+1939T>C (p.=)
c.*124+1738T>C (p.=)
c.*3046A>G (p.=)
c.2793A>G (p.Lys931=)
c.603A>G (p.Lys201=)
c.3516A>G (p.Lys1172=)
ClinVar dbSNP
2g.47806256A>TCA346760976MSH6c.3699A>T (p.Lys1233Asn)
c.3309A>T (p.Lys1103Asn)
c.3402A>T (p.Lys1134Asn)
c.169+1939T>A (p.=)
c.*124+1738T>A (p.=)
c.*3046A>T (p.=)
c.2793A>T (p.Lys931Asn)
c.603A>T (p.Lys201Asn)
c.3516A>T (p.Lys1172Asn)
2g.47806256_47806262dupCA658655735MSH6c.3699_3705dup (p.Ala1236ArgfsTer4)
c.3309_3315dup (p.Ala1106ArgfsTer4)
c.3402_3408dup (p.Ala1137ArgfsTer4)
c.169+1933_169+1939dup (p.=)
c.*124+1732_*124+1738dup (p.=)
c.*3046_*3052dup (p.=)
c.2793_2799dup (p.Ala934ArgfsTer4)
c.603_609dup (p.Ala204ArgfsTer4)
c.3516_3522dup (p.Ala1175ArgfsTer4)
ClinVar dbSNP
2g.47806257G>ACA346760977MSH6c.3700G>A (p.Glu1234Lys)
c.3310G>A (p.Glu1104Lys)
c.3403G>A (p.Glu1135Lys)
c.169+1938C>T (p.=)
c.*124+1737C>T (p.=)
c.*3047G>A (p.=)
c.2794G>A (p.Glu932Lys)
c.604G>A (p.Glu202Lys)
c.3517G>A (p.Glu1173Lys)
ClinVar
2g.47806257G>CCA46719355MSH6c.3700G>C (p.Glu1234Gln)
c.3310G>C (p.Glu1104Gln)
c.3403G>C (p.Glu1135Gln)
c.169+1938C>G (p.=)
c.*124+1737C>G (p.=)
c.*3047G>C (p.=)
c.2794G>C (p.Glu932Gln)
c.604G>C (p.Glu202Gln)
c.3517G>C (p.Glu1173Gln)
ClinVar dbSNP
2g.47806257G=CA2496054074MSH6c.3700G= (p.Glu1234=)
c.3310G= (p.Glu1104=)
c.3403G= (p.Glu1135=)
c.169+1938C= (p.=)
c.*124+1737C= (p.=)
c.*3047G= (p.=)
c.2794G= (p.Glu932=)
c.604G= (p.Glu202=)
c.3517G= (p.Glu1173=)
2g.47806257G>TCA346760978MSH6c.3700G>T (p.Glu1234Ter)
c.3310G>T (p.Glu1104Ter)
c.3403G>T (p.Glu1135Ter)
c.169+1938C>A (p.=)
c.*124+1737C>A (p.=)
c.*3047G>T (p.=)
c.2794G>T (p.Glu932Ter)
c.604G>T (p.Glu202Ter)
c.3517G>T (p.Glu1173Ter)
ClinVar COSMIC
2g.47806257_47806259delinsAAGCA46719352MSH6c.3700_3702delinsAAG (p.Glu1234Lys)
c.3310_3312delinsAAG (p.Glu1104Lys)
c.3403_3405delinsAAG (p.Glu1135Lys)
c.169+1936_169+1938delinsCTT (p.=)
c.*124+1735_*124+1737delinsCTT (p.=)
c.*3047_*3049delinsAAG (p.=)
c.2794_2796delinsAAG (p.Glu932Lys)
c.604_606delinsAAG (p.Glu202Lys)
c.3517_3519delinsAAG (p.Glu1173Lys)
dbSNP
2g.47806258_47806263dupCA645369302MSH6c.3701_3706dup (p.Leu1235_Ala1236insGluLeu)
c.3311_3316dup (p.Leu1105_Ala1106insGluLeu)
c.3404_3409dup (p.Leu1136_Ala1137insGluLeu)
c.169+1933_169+1938dup (p.=)
c.*124+1732_*124+1737dup (p.=)
c.*3048_*3053dup (p.=)
c.2795_2800dup (p.Leu933_Ala934insGluLeu)
c.605_610dup (p.Leu203_Ala204insGluLeu)
c.3518_3523dup (p.Leu1174_Ala1175insGluLeu)
ClinVar dbSNP
2g.47806258A>CCA346760979MSH6c.3701A>C (p.Glu1234Ala)
c.3311A>C (p.Glu1104Ala)
c.3404A>C (p.Glu1135Ala)
c.169+1937T>G (p.=)
c.*124+1736T>G (p.=)
c.*3048A>C (p.=)
c.2795A>C (p.Glu932Ala)
c.605A>C (p.Glu202Ala)
c.3518A>C (p.Glu1173Ala)
2g.47806258A>GCA346760981MSH6c.3701A>G (p.Glu1234Gly)
c.3311A>G (p.Glu1104Gly)
c.3404A>G (p.Glu1135Gly)
c.169+1937T>C (p.=)
c.*124+1736T>C (p.=)
c.*3048A>G (p.=)
c.2795A>G (p.Glu932Gly)
c.605A>G (p.Glu202Gly)
c.3518A>G (p.Glu1173Gly)
2g.47806258A>TCA346760980MSH6c.3701A>T (p.Glu1234Val)
c.3311A>T (p.Glu1104Val)
c.3404A>T (p.Glu1135Val)
c.169+1937T>A (p.=)
c.*124+1736T>A (p.=)
c.*3048A>T (p.=)
c.2795A>T (p.Glu932Val)
c.605A>T (p.Glu202Val)
c.3518A>T (p.Glu1173Val)
2g.47806259A>CCA346760982MSH6c.3702A>C (p.Glu1234Asp)
c.3312A>C (p.Glu1104Asp)
c.3405A>C (p.Glu1135Asp)
c.169+1936T>G (p.=)
c.*124+1735T>G (p.=)
c.*3049A>C (p.=)
c.2796A>C (p.Glu932Asp)
c.606A>C (p.Glu202Asp)
c.3519A>C (p.Glu1173Asp)
2g.47806259A>GCA425997890MSH6c.3702A>G (p.Glu1234=)
c.3312A>G (p.Glu1104=)
c.3405A>G (p.Glu1135=)
c.169+1936T>C (p.=)
c.*124+1735T>C (p.=)
c.*3049A>G (p.=)
c.2796A>G (p.Glu932=)
c.606A>G (p.Glu202=)
c.3519A>G (p.Glu1173=)
2g.47806259A>TCA346760983MSH6c.3702A>T (p.Glu1234Asp)
c.3312A>T (p.Glu1104Asp)
c.3405A>T (p.Glu1135Asp)
c.169+1936T>A (p.=)
c.*124+1735T>A (p.=)
c.*3049A>T (p.=)
c.2796A>T (p.Glu932Asp)
c.606A>T (p.Glu202Asp)
c.3519A>T (p.Glu1173Asp)
2g.47806260C>ACA346760984MSH6c.3703C>A (p.Leu1235Ile)
c.3313C>A (p.Leu1105Ile)
c.3406C>A (p.Leu1136Ile)
c.169+1935G>T (p.=)
c.*124+1734G>T (p.=)
c.*3050C>A (p.=)
c.2797C>A (p.Leu933Ile)
c.607C>A (p.Leu203Ile)
c.3520C>A (p.Leu1174Ile)
2g.47806260C=CA2496054076MSH6c.3703C= (p.Leu1235=)
c.3313C= (p.Leu1105=)
c.3406C= (p.Leu1136=)
c.169+1935G= (p.=)
c.*124+1734G= (p.=)
c.*3050C= (p.=)
c.2797C= (p.Leu933=)
c.607C= (p.Leu203=)
c.3520C= (p.Leu1174=)
2g.47806260C>GCA10577292MSH6c.3703C>G (p.Leu1235Val)
c.3313C>G (p.Leu1105Val)
c.3406C>G (p.Leu1136Val)
c.169+1935G>C (p.=)
c.*124+1734G>C (p.=)
c.*3050C>G (p.=)
c.2797C>G (p.Leu933Val)
c.607C>G (p.Leu203Val)
c.3520C>G (p.Leu1174Val)
ClinVar dbSNP gnomAD
2g.47806260C>TCA346760985MSH6c.3703C>T (p.Leu1235Phe)
c.3313C>T (p.Leu1105Phe)
c.3406C>T (p.Leu1136Phe)
c.169+1935G>A (p.=)
c.*124+1734G>A (p.=)
c.*3050C>T (p.=)
c.2797C>T (p.Leu933Phe)
c.607C>T (p.Leu203Phe)
c.3520C>T (p.Leu1174Phe)
ClinVar
2g.47806261T>ACA346760986MSH6c.3704T>A (p.Leu1235His)
c.3314T>A (p.Leu1105His)
c.3407T>A (p.Leu1136His)
c.169+1934A>T (p.=)
c.*124+1733A>T (p.=)
c.*3051T>A (p.=)
c.2798T>A (p.Leu933His)
c.608T>A (p.Leu203His)
c.3521T>A (p.Leu1174His)
2g.47806261T>CCA346760987MSH6c.3704T>C (p.Leu1235Pro)
c.3314T>C (p.Leu1105Pro)
c.3407T>C (p.Leu1136Pro)
c.169+1934A>G (p.=)
c.*124+1733A>G (p.=)
c.*3051T>C (p.=)
c.2798T>C (p.Leu933Pro)
c.608T>C (p.Leu203Pro)
c.3521T>C (p.Leu1174Pro)
2g.47806261T>GCA346760988MSH6c.3704T>G (p.Leu1235Arg)
c.3314T>G (p.Leu1105Arg)
c.3407T>G (p.Leu1136Arg)
c.169+1934A>C (p.=)
c.*124+1733A>C (p.=)
c.*3051T>G (p.=)
c.2798T>G (p.Leu933Arg)
c.608T>G (p.Leu203Arg)
c.3521T>G (p.Leu1174Arg)
2g.47806262T>ACA425997907MSH6c.3705T>A (p.Leu1235=)
c.3315T>A (p.Leu1105=)
c.3408T>A (p.Leu1136=)
c.169+1933A>T (p.=)
c.*124+1732A>T (p.=)
c.*3052T>A (p.=)
c.2799T>A (p.Leu933=)
c.609T>A (p.Leu203=)
c.3522T>A (p.Leu1174=)
2g.47806262T>CCA339009MSH6c.3705T>C (p.Leu1235=)
c.3315T>C (p.Leu1105=)
c.3408T>C (p.Leu1136=)
c.169+1933A>G (p.=)
c.*124+1732A>G (p.=)
c.*3052T>C (p.=)
c.2799T>C (p.Leu933=)
c.609T>C (p.Leu203=)
c.3522T>C (p.Leu1174=)
ClinVar dbSNP
2g.47806262T>GCA425997909MSH6c.3705T>G (p.Leu1235=)
c.3315T>G (p.Leu1105=)
c.3408T>G (p.Leu1136=)
c.169+1933A>C (p.=)
c.*124+1732A>C (p.=)
c.*3052T>G (p.=)
c.2799T>G (p.Leu933=)
c.609T>G (p.Leu203=)
c.3522T>G (p.Leu1174=)
2g.47806262T=CA2496054078MSH6c.3705T= (p.Leu1235=)
c.3315T= (p.Leu1105=)
c.3408T= (p.Leu1136=)
c.169+1933A= (p.=)
c.*124+1732A= (p.=)
c.*3052T= (p.=)
c.2799T= (p.Leu933=)
c.609T= (p.Leu203=)
c.3522T= (p.Leu1174=)
2g.47806263G>ACA346760989MSH6c.3706G>A (p.Ala1236Thr)
c.3316G>A (p.Ala1106Thr)
c.3409G>A (p.Ala1137Thr)
c.169+1932C>T (p.=)
c.*124+1731C>T (p.=)
c.*3053G>A (p.=)
c.2800G>A (p.Ala934Thr)
c.610G>A (p.Ala204Thr)
c.3523G>A (p.Ala1175Thr)
2g.47806263G>CCA346760990MSH6c.3706G>C (p.Ala1236Pro)
c.3316G>C (p.Ala1106Pro)
c.3409G>C (p.Ala1137Pro)
c.169+1932C>G (p.=)
c.*124+1731C>G (p.=)
c.*3053G>C (p.=)
c.2800G>C (p.Ala934Pro)
c.610G>C (p.Ala204Pro)
c.3523G>C (p.Ala1175Pro)
ClinVar
2g.47806263G=CA2496054079MSH6c.3706G= (p.Ala1236=)
c.3316G= (p.Ala1106=)
c.3409G= (p.Ala1137=)
c.169+1932C= (p.=)
c.*124+1731C= (p.=)
c.*3053G= (p.=)
c.2800G= (p.Ala934=)
c.610G= (p.Ala204=)
c.3523G= (p.Ala1175=)
2g.47806263G>TCA346760991MSH6c.3706G>T (p.Ala1236Ser)
c.3316G>T (p.Ala1106Ser)
c.3409G>T (p.Ala1137Ser)
c.169+1932C>A (p.=)
c.*124+1731C>A (p.=)
c.*3053G>T (p.=)
c.2800G>T (p.Ala934Ser)
c.610G>T (p.Ala204Ser)
c.3523G>T (p.Ala1175Ser)
2g.47806264C>ACA346760994MSH6c.3707C>A (p.Ala1236Asp)
c.3317C>A (p.Ala1106Asp)
c.3410C>A (p.Ala1137Asp)
c.169+1931G>T (p.=)
c.*124+1730G>T (p.=)
c.*3054C>A (p.=)
c.2801C>A (p.Ala934Asp)
c.611C>A (p.Ala204Asp)
c.3524C>A (p.Ala1175Asp)
2g.47806264C>GCA346760993MSH6c.3707C>G (p.Ala1236Gly)
c.3317C>G (p.Ala1106Gly)
c.3410C>G (p.Ala1137Gly)
c.169+1931G>C (p.=)
c.*124+1730G>C (p.=)
c.*3054C>G (p.=)
c.2801C>G (p.Ala934Gly)
c.611C>G (p.Ala204Gly)
c.3524C>G (p.Ala1175Gly)
2g.47806264C>TCA346760992MSH6c.3707C>T (p.Ala1236Val)
c.3317C>T (p.Ala1106Val)
c.3410C>T (p.Ala1137Val)
c.169+1931G>A (p.=)
c.*124+1730G>A (p.=)
c.*3054C>T (p.=)
c.2801C>T (p.Ala934Val)
c.611C>T (p.Ala204Val)
c.3524C>T (p.Ala1175Val)
2g.47806265T>ACA425997925MSH6c.3708T>A (p.Ala1236=)
c.3318T>A (p.Ala1106=)
c.3411T>A (p.Ala1137=)
c.169+1930A>T (p.=)
c.*124+1729A>T (p.=)
c.*3055T>A (p.=)
c.2802T>A (p.Ala934=)
c.612T>A (p.Ala204=)
c.3525T>A (p.Ala1175=)
2g.47806265T>CCA425997928MSH6c.3708T>C (p.Ala1236=)
c.3318T>C (p.Ala1106=)
c.3411T>C (p.Ala1137=)
c.169+1930A>G (p.=)
c.*124+1729A>G (p.=)
c.*3055T>C (p.=)
c.2802T>C (p.Ala934=)
c.612T>C (p.Ala204=)
c.3525T>C (p.Ala1175=)
ClinVar
2g.47806265T>GCA425997930MSH6c.3708T>G (p.Ala1236=)
c.3318T>G (p.Ala1106=)
c.3411T>G (p.Ala1137=)
c.169+1930A>C (p.=)
c.*124+1729A>C (p.=)
c.*3055T>G (p.=)
c.2802T>G (p.Ala934=)
c.612T>G (p.Ala204=)
c.3525T>G (p.Ala1175=)
2g.47806265T=CA2496054081MSH6c.3708T= (p.Ala1236=)
c.3318T= (p.Ala1106=)
c.3411T= (p.Ala1137=)
c.169+1930A= (p.=)
c.*124+1729A= (p.=)
c.*3055T= (p.=)
c.2802T= (p.Ala934=)
c.612T= (p.Ala204=)
c.3525T= (p.Ala1175=)
2g.47806266G>ACA346760995MSH6c.3709G>A (p.Glu1237Lys)
c.3319G>A (p.Glu1107Lys)
c.3412G>A (p.Glu1138Lys)
c.169+1929C>T (p.=)
c.*124+1728C>T (p.=)
c.*3056G>A (p.=)
c.2803G>A (p.Glu935Lys)
c.613G>A (p.Glu205Lys)
c.3526G>A (p.Glu1176Lys)
2g.47806266G>CCA346760996MSH6c.3709G>C (p.Glu1237Gln)
c.3319G>C (p.Glu1107Gln)
c.3412G>C (p.Glu1138Gln)
c.169+1929C>G (p.=)
c.*124+1728C>G (p.=)
c.*3056G>C (p.=)
c.2803G>C (p.Glu935Gln)
c.613G>C (p.Glu205Gln)
c.3526G>C (p.Glu1176Gln)
ClinVar

Number of alleles fetched