Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47411348_47413406del | CA658760710 | MSH2 | c.645+976_792+846del c.447+976_594+846del n.717+976_864+846del n.707+976_854+846del | |
2 | g.47412408_47412495del | CA2580066592 | MSH2 | c.646-6_727del c.448-6_529del n.718-6_799del n.708-6_789del | ClinVar |
2 | g.47412413_47413046del | CA2499215988 | MSH2 | c.646-1_792+486del c.448-1_594+486del n.718-1_864+486del n.708-1_854+486del | ClinVar dbSNP |
2 | g.47412466_47412484delinsCCACAAAAGACATTTATCA | CA2495832709 | MSH2 | c.698_716delinsCCACAAAAGACATTTATCA (p.Ser233=) c.500_518delinsCCACAAAAGACATTTATCA (p.Ser167=) n.770_788delinsCCACAAAAGACATTTATCA n.760_778delinsCCACAAAAGACATTTATCA | |
2 | g.47412467_47412484del | CA2495832710 | MSH2 | c.699_716del (p.Thr234_Gln239del) c.501_518del (p.Thr168_Gln173del) n.771_788del n.761_778del | ClinVar dbSNP |
2 | g.47412471_47412477del | CA2499215991 | MSH2 | c.703_709del (p.Lys235PhefsTer9) c.505_511del (p.Lys169PhefsTer9) n.775_781del n.765_771del | ClinVar dbSNP |
2 | g.47412473del | CA022063 | MSH2 | c.705del (p.Asp236ThrfsTer10) c.507del (p.Asp170ThrfsTer10) n.777del n.767del | ClinVar dbSNP |
2 | g.47412472_47412473del | CA022059 | MSH2 | c.704_705del (p.Lys235ArgfsTer20) c.506_507del (p.Lys169ArgfsTer20) n.776_777del n.766_767del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412473A>C | CA346732020 | MSH2 | c.705A>C (p.Lys235Asn) c.507A>C (p.Lys169Asn) n.777A>C n.767A>C | |
2 | g.47412473A>G | CA425967624 | MSH2 | c.705A>G (p.Lys235=) c.507A>G (p.Lys169=) n.777A>G n.767A>G | |
2 | g.47412473A>T | CA346732023 | MSH2 | c.705A>T (p.Lys235Asn) c.507A>T (p.Lys169Asn) n.777A>T n.767A>T | dbSNP |
2 | g.47412474G>A | CA346732026 | MSH2 | c.706G>A (p.Asp236Asn) c.508G>A (p.Asp170Asn) n.778G>A n.768G>A | ClinVar dbSNP |
2 | g.47412474G>C | CA16617560 | MSH2 | c.706G>C (p.Asp236His) c.508G>C (p.Asp170His) n.778G>C n.768G>C | ClinVar dbSNP |
2 | g.47412474G= | CA2495832717 | MSH2 | c.706G= (p.Asp236=) c.508G= (p.Asp170=) n.778G= n.768G= | |
2 | g.47412474G>T | CA346732029 | MSH2 | c.706G>T (p.Asp236Tyr) c.508G>T (p.Asp170Tyr) n.778G>T n.768G>T | |
2 | g.47412475A= | CA2495832719 | MSH2 | c.707A= (p.Asp236=) c.509A= (p.Asp170=) n.779A= n.769A= | |
2 | g.47412475A>C | CA346732033 | MSH2 | c.707A>C (p.Asp236Ala) c.509A>C (p.Asp170Ala) n.779A>C n.769A>C | dbSNP |
2 | g.47412475A>G | CA10577946 | MSH2 | c.707A>G (p.Asp236Gly) c.509A>G (p.Asp170Gly) n.779A>G n.769A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412475A>T | CA346732037 | MSH2 | c.707A>T (p.Asp236Val) c.509A>T (p.Asp170Val) n.779A>T n.769A>T | dbSNP |
2 | g.47412475_47412482delinsACATTTAT | CA2495832718 | MSH2 | c.707_714delinsACATTTAT (p.Asp236=) c.509_516delinsACATTTAT (p.Asp170=) n.779_786delinsACATTTAT n.769_776delinsACATTTAT | |
2 | g.47412476C>A | CA346732040 | MSH2 | c.708C>A (p.Asp236Glu) c.510C>A (p.Asp170Glu) n.780C>A n.770C>A | ClinVar dbSNP |
2 | g.47412476C= | CA2495832721 | MSH2 | c.708C= (p.Asp236=) c.510C= (p.Asp170=) n.780C= n.770C= | |
2 | g.47412476C>G | CA346732045 | MSH2 | c.708C>G (p.Asp236Glu) c.510C>G (p.Asp170Glu) n.780C>G n.770C>G | ClinVar dbSNP |
2 | g.47412476C>T | CA425967640 | MSH2 | c.708C>T (p.Asp236=) c.510C>T (p.Asp170=) n.780C>T n.770C>T | ClinVar dbSNP |
2 | g.47412476_47412480delinsCATTT | CA2495832720 | MSH2 | c.708_712delinsCATTT (p.Asp236=) c.510_514delinsCATTT (p.Asp170=) n.780_784delinsCATTT n.770_774delinsCATTT | |
2 | g.47412478_47412484del | CA645369191 | MSH2 | c.710_716del (p.Ile237ArgfsTer7) c.512_518del (p.Ile171ArgfsTer7) n.782_788del n.772_778del | ClinVar dbSNP |
2 | g.47412477del | CA2580066887 | MSH2 | c.709del (p.Ile237PhefsTer9) c.511del (p.Ile171PhefsTer9) n.781del n.771del | ClinVar |
2 | g.47412477A= | CA2495832722 | MSH2 | c.709A= (p.Ile237=) c.511A= (p.Ile171=) n.781A= n.771A= | |
2 | g.47412477A>C | CA346732052 | MSH2 | c.709A>C (p.Ile237Leu) c.511A>C (p.Ile171Leu) n.781A>C n.771A>C | |
2 | g.47412477A>G | CA022070 | MSH2 | c.709A>G (p.Ile237Val) c.511A>G (p.Ile171Val) n.781A>G n.771A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.47412477A>T | CA346732051 | MSH2 | c.709A>T (p.Ile237Phe) c.511A>T (p.Ile171Phe) n.781A>T n.771A>T | dbSNP |
2 | g.47412479_47412482dup | CA891841777 | MSH2 | c.711_714dup (p.Gln239LeufsTer18) c.513_516dup (p.Gln173LeufsTer18) n.783_786dup n.773_776dup | |
2 | g.47412479_47412482del | CA022080 | MSH2 | c.711_714del (p.Tyr238ArgfsTer7) c.513_516del (p.Tyr172ArgfsTer7) n.783_786del n.773_776del | ClinVar dbSNP |
2 | g.47412478T>A | CA346732053 | MSH2 | c.710T>A (p.Ile237Asn) c.512T>A (p.Ile171Asn) n.782T>A n.772T>A | dbSNP |
2 | g.47412478T>C | CA346732055 | MSH2 | c.710T>C (p.Ile237Thr) c.512T>C (p.Ile171Thr) n.782T>C n.772T>C | |
2 | g.47412478T>G | CA346732057 | MSH2 | c.710T>G (p.Ile237Ser) c.512T>G (p.Ile171Ser) n.782T>G n.772T>G | ClinVar |
2 | g.47412480del | CA2580066888 | MSH2 | c.712del (p.Tyr238IlefsTer8) c.514del (p.Tyr172IlefsTer8) n.784del n.774del | ClinVar |
2 | g.47412478_47412483delinsAAAGGTTCCACAAA | CA2580066889 | MSH2 | c.710_715delinsAAAGGTTCCACAAA (p.Ile237LysfsTer12) c.512_517delinsAAAGGTTCCACAAA (p.Ile171LysfsTer12) n.782_787delinsAAAGGTTCCACAAA n.772_777delinsAAAGGTTCCACAAA | ClinVar |
2 | g.47412479T>A | CA425967648 | MSH2 | c.711T>A (p.Ile237=) c.513T>A (p.Ile171=) n.783T>A n.773T>A | dbSNP |
2 | g.47412479T>C | CA425967650 | MSH2 | c.711T>C (p.Ile237=) c.513T>C (p.Ile171=) n.783T>C n.773T>C | ClinVar dbSNP |
2 | g.47412479T>G | CA346732061 | MSH2 | c.711T>G (p.Ile237Met) c.513T>G (p.Ile171Met) n.783T>G n.773T>G | |
2 | g.47412479_47412495del | CA658760732 | MSH2 | c.711_727del (p.Ile237MetfsTer13) c.513_529del (p.Ile171MetfsTer13) n.783_799del n.773_789del | |
2 | g.47412480T>A | CA346732068 | MSH2 | c.712T>A (p.Tyr238Asn) c.514T>A (p.Tyr172Asn) n.784T>A n.774T>A | dbSNP |
2 | g.47412480T>C | CA346732066 | MSH2 | c.712T>C (p.Tyr238His) c.514T>C (p.Tyr172His) n.784T>C n.774T>C | ClinVar |
2 | g.47412480T>G | CA16611002 | MSH2 | c.712T>G (p.Tyr238Asp) c.514T>G (p.Tyr172Asp) n.784T>G n.774T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412480T= | CA2495832723 | MSH2 | c.712T= (p.Tyr238=) c.514T= (p.Tyr172=) n.784T= n.774T= | |
2 | g.47412481A= | CA2495832724 | MSH2 | c.713A= (p.Tyr238=) c.515A= (p.Tyr172=) n.785A= n.775A= | |
2 | g.47412481A>C | CA346732070 | MSH2 | c.713A>C (p.Tyr238Ser) c.515A>C (p.Tyr172Ser) n.785A>C n.775A>C | |
2 | g.47412481A>G | CA346732073 | MSH2 | c.713A>G (p.Tyr238Cys) c.515A>G (p.Tyr172Cys) n.785A>G n.775A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412481A>T | CA346732076 | MSH2 | c.713A>T (p.Tyr238Phe) c.515A>T (p.Tyr172Phe) n.785A>T n.775A>T | ClinVar dbSNP |
2 | g.47412482_47412487del | CA2658946232 | MSH2 | c.714_719del (p.Gln239_Asp240del) c.516_521del (p.Gln173_Asp174del) n.786_791del n.776_781del | gnomAD v4 |
2 | g.47412482T>A | CA346732079 | MSH2 | c.714T>A (p.Tyr238Ter) c.516T>A (p.Tyr172Ter) n.786T>A n.776T>A | dbSNP |
2 | g.47412482T>C | CA040171 | MSH2 | c.714T>C (p.Tyr238=) c.516T>C (p.Tyr172=) n.786T>C n.776T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412482T>G | CA346732082 | MSH2 | c.714T>G (p.Tyr238Ter) c.516T>G (p.Tyr172Ter) n.786T>G n.776T>G | ClinVar dbSNP |
2 | g.47412482T= | CA2495832725 | MSH2 | c.714T= (p.Tyr238=) c.516T= (p.Tyr172=) n.786T= n.776T= | |
2 | g.47412483C>A | CA346732084 | MSH2 | c.715C>A (p.Gln239Lys) c.517C>A (p.Gln173Lys) n.787C>A n.777C>A | |
2 | g.47412483C= | CA2495832726 | MSH2 | c.715C= (p.Gln239=) c.517C= (p.Gln173=) n.787C= n.777C= | |
2 | g.47412483C>G | CA16610793 | MSH2 | c.715C>G (p.Gln239Glu) c.517C>G (p.Gln173Glu) n.787C>G n.777C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412483C>T | CA022086 | MSH2 | c.715C>T (p.Gln239Ter) c.517C>T (p.Gln173Ter) n.787C>T n.777C>T | ClinVar dbSNP |
2 | g.47412483dup | CA2695200765 | MSH2 | c.715dup (p.Gln239ProfsTer17) c.517dup (p.Gln173ProfsTer17) n.787dup n.777dup | ClinVar |
2 | g.47412484A= | CA2495832728 | MSH2 | c.716A= (p.Gln239=) c.518A= (p.Gln173=) n.788A= n.778A= | |
2 | g.47412484A>C | CA346732090 | MSH2 | c.716A>C (p.Gln239Pro) c.518A>C (p.Gln173Pro) n.788A>C n.778A>C | ClinVar dbSNP |
2 | g.47412484A>G | CA022091 | MSH2 | c.716A>G (p.Gln239Arg) c.518A>G (p.Gln173Arg) n.788A>G n.778A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412484A>T | CA346732096 | MSH2 | c.716A>T (p.Gln239Leu) c.518A>T (p.Gln173Leu) n.788A>T n.778A>T | ClinVar dbSNP |
2 | g.47412484_47412489delinsAGGACC | CA2495832727 | MSH2 | c.716_721delinsAGGACC (p.Gln239=) c.518_523delinsAGGACC (p.Gln173=) n.788_793delinsAGGACC n.778_783delinsAGGACC | |
2 | g.47412485G>A | CA425967683 | MSH2 | c.717G>A (p.Gln239=) c.519G>A (p.Gln173=) n.789G>A n.779G>A | dbSNP |
2 | g.47412485G>C | CA346732111 | MSH2 | c.717G>C (p.Gln239His) c.519G>C (p.Gln173His) n.789G>C n.779G>C | ClinVar dbSNP |
2 | g.47412485G>T | CA346732113 | MSH2 | c.717G>T (p.Gln239His) c.519G>T (p.Gln173His) n.789G>T n.779G>T | dbSNP |
2 | g.47412486del | CA645531412 | MSH2 | c.718del (p.Asp240ThrfsTer6) c.520del (p.Asp174ThrfsTer6) n.790del n.780del | ClinVar dbSNP COSMIC |
2 | g.47412485_47412489delinsTTA | CA022098 | MSH2 | c.717_721delinsTTA (p.Gln239HisfsTer16) c.519_523delinsTTA (p.Gln173HisfsTer16) n.789_793delinsTTA n.779_783delinsTTA | ClinVar dbSNP |
2 | g.47412486G>A | CA346732114 | MSH2 | c.718G>A (p.Asp240Asn) c.520G>A (p.Asp174Asn) n.790G>A n.780G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412486G>C | CA346732117 | MSH2 | c.718G>C (p.Asp240His) c.520G>C (p.Asp174His) n.790G>C n.780G>C | dbSNP |
2 | g.47412486G= | CA2495832729 | MSH2 | c.718G= (p.Asp240=) c.520G= (p.Asp174=) n.790G= n.780G= | |
2 | g.47412486G>T | CA346732120 | MSH2 | c.718G>T (p.Asp240Tyr) c.520G>T (p.Asp174Tyr) n.790G>T n.780G>T | ClinVar dbSNP |
2 | g.47412487A= | CA2495832730 | MSH2 | c.719A= (p.Asp240=) c.521A= (p.Asp174=) n.791A= n.781A= | |
2 | g.47412487A>C | CA346732123 | MSH2 | c.719A>C (p.Asp240Ala) c.521A>C (p.Asp174Ala) n.791A>C n.781A>C | ClinVar dbSNP |
2 | g.47412487A>G | CA10582000 | MSH2 | c.719A>G (p.Asp240Gly) c.521A>G (p.Asp174Gly) n.791A>G n.781A>G | ClinVar dbSNP |
2 | g.47412487A>T | CA346732126 | MSH2 | c.719A>T (p.Asp240Val) c.521A>T (p.Asp174Val) n.791A>T n.781A>T | dbSNP |
2 | g.47412487_47412488delinsAC | CA2495832731 | MSH2 | c.719_720delinsAC (p.Asp240=) c.521_522delinsAC (p.Asp174=) n.791_792delinsAC n.781_782delinsAC | |
2 | g.47412488C>A | CA346732133 | MSH2 | c.720C>A (p.Asp240Glu) c.522C>A (p.Asp174Glu) n.792C>A n.782C>A | dbSNP |
2 | g.47412488C= | CA2495832732 | MSH2 | c.720C= (p.Asp240=) c.522C= (p.Asp174=) n.792C= n.782C= | |
2 | g.47412488C>G | CA346732131 | MSH2 | c.720C>G (p.Asp240Glu) c.522C>G (p.Asp174Glu) n.792C>G n.782C>G | dbSNP |
2 | g.47412488C>T | CA425967697 | MSH2 | c.720C>T (p.Asp240=) c.522C>T (p.Asp174=) n.792C>T n.782C>T | ClinVar dbSNP |
2 | g.47412489del | CA915943888 | MSH2 | c.721del (p.Leu241SerfsTer5) c.523del (p.Leu175SerfsTer5) n.793del n.783del | ClinVar dbSNP |
2 | g.47412489C>A | CA346732136 | MSH2 | c.721C>A (p.Leu241Ile) c.523C>A (p.Leu175Ile) n.793C>A n.783C>A | ClinVar dbSNP |
2 | g.47412489C= | CA2495832733 | MSH2 | c.721C= (p.Leu241=) c.523C= (p.Leu175=) n.793C= n.783C= | |
2 | g.47412489C>G | CA346732141 | MSH2 | c.721C>G (p.Leu241Val) c.523C>G (p.Leu175Val) n.793C>G n.783C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412489C>T | CA346732138 | MSH2 | c.721C>T (p.Leu241Phe) c.523C>T (p.Leu175Phe) n.793C>T n.783C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412490T>A | CA346732144 | MSH2 | c.722T>A (p.Leu241His) c.524T>A (p.Leu175His) n.794T>A n.784T>A | dbSNP |
2 | g.47412490T>C | CA346732149 | MSH2 | c.722T>C (p.Leu241Pro) c.524T>C (p.Leu175Pro) n.794T>C n.784T>C | ClinVar dbSNP |
2 | g.47412490T>G | CA346732146 | MSH2 | c.722T>G (p.Leu241Arg) c.524T>G (p.Leu175Arg) n.794T>G n.784T>G | |
2 | g.47412491del | CA2580066898 | MSH2 | c.723del (p.Asn242ThrfsTer4) c.525del (p.Asn176ThrfsTer4) n.795del n.785del | ClinVar |
2 | g.47412491C>A | CA425967710 | MSH2 | c.723C>A (p.Leu241=) c.525C>A (p.Leu175=) n.795C>A n.785C>A | dbSNP |
2 | g.47412491C= | CA2495832734 | MSH2 | c.723C= (p.Leu241=) c.525C= (p.Leu175=) n.795C= n.785C= | |
2 | g.47412491C>G | CA425967712 | MSH2 | c.723C>G (p.Leu241=) c.525C>G (p.Leu175=) n.795C>G n.785C>G | dbSNP |
2 | g.47412491C>T | CA425967714 | MSH2 | c.723C>T (p.Leu241=) c.525C>T (p.Leu175=) n.795C>T n.785C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412492A= | CA2495832735 | MSH2 | c.724A= (p.Asn242=) c.526A= (p.Asn176=) n.796A= n.786A= | |
2 | g.47412492A>C | CA346732152 | MSH2 | c.724A>C (p.Asn242His) c.526A>C (p.Asn176His) n.796A>C n.786A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412492A>G | CA346732159 | MSH2 | c.724A>G (p.Asn242Asp) c.526A>G (p.Asn176Asp) n.796A>G n.786A>G | |
2 | g.47412492A>T | CA346732155 | MSH2 | c.724A>T (p.Asn242Tyr) c.526A>T (p.Asn176Tyr) n.796A>T n.786A>T | dbSNP |
2 | g.47412493dup | CA331668 | MSH2 | c.725dup (p.Asn242LysfsTer14) c.527dup (p.Asn176LysfsTer14) n.797dup n.787dup | ClinVar dbSNP |
2 | g.47412493A= | CA2495832736 | MSH2 | c.725A= (p.Asn242=) c.527A= (p.Asn176=) n.797A= n.787A= | |
2 | g.47412493A>C | CA346732162 | MSH2 | c.725A>C (p.Asn242Thr) c.527A>C (p.Asn176Thr) n.797A>C n.787A>C | ClinVar dbSNP |
2 | g.47412493A>G | CA040185 | MSH2 | c.725A>G (p.Asn242Ser) c.527A>G (p.Asn176Ser) n.797A>G n.787A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412493A>T | CA346732164 | MSH2 | c.725A>T (p.Asn242Ile) c.527A>T (p.Asn176Ile) n.797A>T n.787A>T | dbSNP |
2 | g.47412494C>A | CA346732169 | MSH2 | c.726C>A (p.Asn242Lys) c.528C>A (p.Asn176Lys) n.798C>A n.788C>A | ClinVar dbSNP |
2 | g.47412494C= | CA2495832737 | MSH2 | c.726C= (p.Asn242=) c.528C= (p.Asn176=) n.798C= n.788C= | |
2 | g.47412494C>G | CA16611006 | MSH2 | c.726C>G (p.Asn242Lys) c.528C>G (p.Asn176Lys) n.798C>G n.788C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412494C>T | CA040200 | MSH2 | c.726C>T (p.Asn242=) c.528C>T (p.Asn176=) n.798C>T n.788C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412495del | CA2580066900 | MSH2 | c.727del (p.Arg243GlyfsTer3) c.529del (p.Arg177GlyfsTer3) n.799del n.789del | ClinVar |
2 | g.47412495C>A | CA425967731 | MSH2 | c.727C>A (p.Arg243=) c.529C>A (p.Arg177=) n.799C>A n.789C>A | ClinVar dbSNP |
2 | g.47412495C= | CA2495832738 | MSH2 | c.727C= (p.Arg243=) c.529C= (p.Arg177=) n.799C= n.789C= | |
2 | g.47412495C>G | CA346732174 | MSH2 | c.727C>G (p.Arg243Gly) c.529C>G (p.Arg177Gly) n.799C>G n.789C>G | dbSNP |
2 | g.47412495C>T | CA040214 | MSH2 | c.727C>T (p.Arg243Trp) c.529C>T (p.Arg177Trp) n.799C>T n.789C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47412496G>A | CA022108 | MSH2 | c.728G>A (p.Arg243Gln) c.530G>A (p.Arg177Gln) n.800G>A n.790G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412496G>C | CA346732181 | MSH2 | c.728G>C (p.Arg243Pro) c.530G>C (p.Arg177Pro) n.800G>C n.790G>C | ClinVar dbSNP |
2 | g.47412496G= | CA2495832739 | MSH2 | c.728G= (p.Arg243=) c.530G= (p.Arg177=) n.800G= n.790G= | |
2 | g.47412496G>T | CA346732184 | MSH2 | c.728G>T (p.Arg243Leu) c.530G>T (p.Arg177Leu) n.800G>T n.790G>T | gnomAD v4 |
2 | g.47412496_47412497del | CA2580066904 | MSH2 | c.728_729del (p.Arg243LeufsTer12) c.530_531del (p.Arg177LeufsTer12) n.800_801del n.790_791del | ClinVar |
2 | g.47412497dup | CA658655710 | MSH2 | c.729dup (p.Leu244ValfsTer12) c.531dup (p.Leu178ValfsTer12) n.801dup n.791dup | ClinVar dbSNP |
2 | g.47412497G>A | CA425967752 | MSH2 | c.729G>A (p.Arg243=) c.531G>A (p.Arg177=) n.801G>A n.791G>A | |
2 | g.47412497G>C | CA425967753 | MSH2 | c.729G>C (p.Arg243=) c.531G>C (p.Arg177=) n.801G>C n.791G>C | dbSNP |
2 | g.47412497G>T | CA425967755 | MSH2 | c.729G>T (p.Arg243=) c.531G>T (p.Arg177=) n.801G>T n.791G>T | dbSNP |
2 | g.47412497_47412498delinsGT | CA2495832740 | MSH2 | c.729_730delinsGT (p.Arg243=) c.531_532delinsGT (p.Arg177=) n.801_802delinsGT n.791_792delinsGT | |
2 | g.47412498T>A | CA346732186 | MSH2 | c.730T>A (p.Leu244Met) c.532T>A (p.Leu178Met) n.802T>A n.792T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412498T>C | CA425967757 | MSH2 | c.730T>C (p.Leu244=) c.532T>C (p.Leu178=) n.802T>C n.792T>C | |
2 | g.47412498T>G | CA346732189 | MSH2 | c.730T>G (p.Leu244Val) c.532T>G (p.Leu178Val) n.802T>G n.792T>G | |
2 | g.47412499dup | CA645531413 | MSH2 | c.731dup (p.Leu244PhefsTer12) c.533dup (p.Leu178PhefsTer12) n.803dup n.793dup | COSMIC |
2 | g.47412499del | CA10577947 | MSH2 | c.731del (p.Leu244CysfsTer2) c.533del (p.Leu178CysfsTer2) n.803del n.793del | ClinVar dbSNP |
2 | g.47412499_47412502dup | CA2695200766 | MSH2 | c.731_734dup (p.Leu245PhefsTer12) c.533_536dup (p.Leu179PhefsTer12) n.803_806dup n.793_796dup | ClinVar |
2 | g.47412499T>A | CA346732197 | MSH2 | c.731T>A (p.Leu244Ter) c.533T>A (p.Leu178Ter) n.803T>A n.793T>A | ClinVar dbSNP |
2 | g.47412499T>C | CA346732192 | MSH2 | c.731T>C (p.Leu244Ser) c.533T>C (p.Leu178Ser) n.803T>C n.793T>C | ClinVar dbSNP |
2 | g.47412499T>G | CA346732194 | MSH2 | c.731T>G (p.Leu244Trp) c.533T>G (p.Leu178Trp) n.803T>G n.793T>G | |
2 | g.47412499T= | CA2495832741 | MSH2 | c.731T= (p.Leu244=) c.533T= (p.Leu178=) n.803T= n.793T= | |
2 | g.47412499_47412503del | CA2749801326 | MSH2 | c.731_735del (p.Leu244Ter) c.533_537del (p.Leu178Ter) n.803_807del n.793_797del | |
2 | g.47412500del | CA913187367 | MSH2 | c.732del (p.Leu244PhefsTer2) c.534del (p.Leu178PhefsTer2) n.804del n.794del | |
2 | g.47412500G>A | CA425967766 | MSH2 | c.732G>A (p.Leu244=) c.534G>A (p.Leu178=) n.804G>A n.794G>A | ClinVar dbSNP |
2 | g.47412500G>C | CA346732200 | MSH2 | c.732G>C (p.Leu244Phe) c.534G>C (p.Leu178Phe) n.804G>C n.794G>C | dbSNP |
2 | g.47412500G>T | CA346732201 | MSH2 | c.732G>T (p.Leu244Phe) c.534G>T (p.Leu178Phe) n.804G>T n.794G>T | ClinVar |
2 | g.47412501T>A | CA346732206 | MSH2 | c.733T>A (p.Leu245Met) c.535T>A (p.Leu179Met) n.805T>A n.795T>A | dbSNP |
2 | g.47412501T>C | CA425967771 | MSH2 | c.733T>C (p.Leu245=) c.535T>C (p.Leu179=) n.805T>C n.795T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412501T>G | CA346732208 | MSH2 | c.733T>G (p.Leu245Val) c.535T>G (p.Leu179Val) n.805T>G n.795T>G | |
2 | g.47412501T= | CA2495832742 | MSH2 | c.733T= (p.Leu245=) c.535T= (p.Leu179=) n.805T= n.795T= | |
2 | g.47412502T>A | CA346732213 | MSH2 | c.734T>A (p.Leu245Ter) c.536T>A (p.Leu179Ter) n.806T>A n.796T>A | |
2 | g.47412502T>C | CA346732215 | MSH2 | c.734T>C (p.Leu245Ser) c.536T>C (p.Leu179Ser) n.806T>C n.796T>C | ClinVar dbSNP |
2 | g.47412502T>G | CA346732217 | MSH2 | c.734T>G (p.Leu245Trp) c.536T>G (p.Leu179Trp) n.806T>G n.796T>G | ClinVar dbSNP |
2 | g.47412502T= | CA2495832743 | MSH2 | c.734T= (p.Leu245=) c.536T= (p.Leu179=) n.806T= n.796T= | |
2 | g.47412503G>A | CA425967780 | MSH2 | c.735G>A (p.Leu245=) c.537G>A (p.Leu179=) n.807G>A n.797G>A | ClinVar gnomAD v4 |
2 | g.47412503G>C | CA348622 | MSH2 | c.735G>C (p.Leu245Phe) c.537G>C (p.Leu179Phe) n.807G>C n.797G>C | ClinVar dbSNP |
2 | g.47412503G= | CA2495832744 | MSH2 | c.735G= (p.Leu245=) c.537G= (p.Leu179=) n.807G= n.797G= | |
2 | g.47412503G>T | CA16617561 | MSH2 | c.735G>T (p.Leu245Phe) c.537G>T (p.Leu179Phe) n.807G>T n.797G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412503dup | CA022114 | MSH2 | c.735dup (p.Lys246GlufsTer10) c.537dup (p.Lys180GlufsTer10) n.807dup n.797dup | ClinVar dbSNP |
2 | g.47412503_47412504insTGTT | CA2586969198 | MSH2 | c.735_736insTGTT (p.Lys246CysfsTer2) c.537_538insTGTT (p.Lys180CysfsTer2) n.807_808insTGTT n.797_798insTGTT | |
2 | g.47412504A= | CA2495832745 | MSH2 | c.736A= (p.Lys246=) c.538A= (p.Lys180=) n.808A= n.798A= | |
2 | g.47412504A>C | CA022120 | MSH2 | c.736A>C (p.Lys246Gln) c.538A>C (p.Lys180Gln) n.808A>C n.798A>C | ClinVar dbSNP |
2 | g.47412504A>G | CA346732225 | MSH2 | c.736A>G (p.Lys246Glu) c.538A>G (p.Lys180Glu) n.808A>G n.798A>G | ClinVar dbSNP |
2 | g.47412504A>T | CA022126 | MSH2 | c.736A>T (p.Lys246Ter) c.538A>T (p.Lys180Ter) n.808A>T n.798A>T | ClinVar dbSNP |
2 | g.47412506del | CA2573051954 | MSH2 | c.738del (p.Gly247AlafsTer7) c.540del (p.Gly181AlafsTer7) n.810del n.800del | ClinVar dbSNP |
2 | g.47412505A= | CA2495832746 | MSH2 | c.737A= (p.Lys246=) c.539A= (p.Lys180=) n.809A= n.799A= | |
2 | g.47412505A>C | CA346732229 | MSH2 | c.737A>C (p.Lys246Thr) c.539A>C (p.Lys180Thr) n.809A>C n.799A>C | |
2 | g.47412505A>G | CA346732232 | MSH2 | c.737A>G (p.Lys246Arg) c.539A>G (p.Lys180Arg) n.809A>G n.799A>G | dbSNP |
2 | g.47412505A>T | CA346732235 | MSH2 | c.737A>T (p.Lys246Ile) c.539A>T (p.Lys180Ile) n.809A>T n.799A>T | dbSNP |
2 | g.47412506A= | CA2495832748 | MSH2 | c.738A= (p.Lys246=) c.540A= (p.Lys180=) n.810A= n.800A= | |
2 | g.47412506A>C | CA346732238 | MSH2 | c.738A>C (p.Lys246Asn) c.540A>C (p.Lys180Asn) n.810A>C n.800A>C | ClinVar dbSNP |
2 | g.47412506A>G | CA425967795 | MSH2 | c.738A>G (p.Lys246=) c.540A>G (p.Lys180=) n.810A>G n.800A>G | ClinVar dbSNP |
2 | g.47412506A>T | CA346732241 | MSH2 | c.738A>T (p.Lys246Asn) c.540A>T (p.Lys180Asn) n.810A>T n.800A>T | dbSNP |
2 | g.47412506_47412509delinsAGGC | CA2495832747 | MSH2 | c.738_741delinsAGGC (p.Lys246=) c.540_543delinsAGGC (p.Lys180=) n.810_813delinsAGGC n.800_803delinsAGGC | |
2 | g.47412507G>A | CA346732244 | MSH2 | c.739G>A (p.Gly247Ser) c.541G>A (p.Gly181Ser) n.811G>A n.801G>A | |
2 | g.47412507G>C | CA346732247 | MSH2 | c.739G>C (p.Gly247Arg) c.541G>C (p.Gly181Arg) n.811G>C n.801G>C | ClinVar dbSNP |
2 | g.47412507G>T | CA346732252 | MSH2 | c.739G>T (p.Gly247Cys) c.541G>T (p.Gly181Cys) n.811G>T n.801G>T | |
2 | g.47412508dup | CA2499214025 | MSH2 | c.740dup (p.Lys248GlnfsTer8) c.542dup (p.Lys182GlnfsTer8) n.812dup n.802dup | |
2 | g.47412507_47412509del | CA532705153 | MSH2 | c.739_741del (p.Gly247del) c.541_543del (p.Gly181del) n.811_813del n.801_803del | dbSNP gnomAD v2 |
2 | g.47412508G>A | CA346732256 | MSH2 | c.740G>A (p.Gly247Asp) c.542G>A (p.Gly181Asp) n.812G>A n.802G>A | dbSNP |
2 | g.47412508G>C | CA346732258 | MSH2 | c.740G>C (p.Gly247Ala) c.542G>C (p.Gly181Ala) n.812G>C n.802G>C | dbSNP |
2 | g.47412508G>T | CA346732261 | MSH2 | c.740G>T (p.Gly247Val) c.542G>T (p.Gly181Val) n.812G>T n.802G>T | |
2 | g.47412509C>A | CA425967810 | MSH2 | c.741C>A (p.Gly247=) c.543C>A (p.Gly181=) n.813C>A n.803C>A | ClinVar dbSNP |
2 | g.47412509C= | CA2495832750 | MSH2 | c.741C= (p.Gly247=) c.543C= (p.Gly181=) n.813C= n.803C= | |
2 | g.47412509C>G | CA040241 | MSH2 | c.741C>G (p.Gly247=) c.543C>G (p.Gly181=) n.813C>G n.803C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412509C>T | CA425967808 | MSH2 | c.741C>T (p.Gly247=) c.543C>T (p.Gly181=) n.813C>T n.803C>T | ClinVar dbSNP |
2 | g.47412509_47412510delinsCA | CA2495832749 | MSH2 | c.741_742delinsCA (p.Gly247=) c.543_544delinsCA (p.Gly181=) n.813_814delinsCA n.803_804delinsCA | |
2 | g.47412510A= | CA2495832751 | MSH2 | c.742A= (p.Lys248=) c.544A= (p.Lys182=) n.814A= n.804A= | |
2 | g.47412510A>C | CA346732278 | MSH2 | c.742A>C (p.Lys248Gln) c.544A>C (p.Lys182Gln) n.814A>C n.804A>C | ClinVar dbSNP |
2 | g.47412510A>G | CA022149 | MSH2 | c.742A>G (p.Lys248Glu) c.544A>G (p.Lys182Glu) n.814A>G n.804A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412510A>T | CA346732275 | MSH2 | c.742A>T (p.Lys248Ter) c.544A>T (p.Lys182Ter) n.814A>T n.804A>T | ClinVar |
2 | g.47412514_47412515insAAAAAAA | CA532705154 | MSH2 | c.746_747insAAAAAAA (p.Gly250LysfsTer8) c.548_549insAAAAAAA (p.Gly184LysfsTer8) n.818_819insAAAAAAA n.808_809insAAAAAAA | gnomAD v2 |
2 | g.47412514dup | CA1139656925 | MSH2 | c.746dup (p.Glu251ArgfsTer5) c.548dup (p.Glu185ArgfsTer5) n.818dup n.808dup | ClinVar dbSNP |
2 | g.47412514del | CA022155 | MSH2 | c.746del (p.Lys249ArgfsTer5) c.548del (p.Lys183ArgfsTer5) n.818del n.808del | ClinVar dbSNP gnomAD v4 |
2 | g.47412511A= | CA2495832752 | MSH2 | c.743A= (p.Lys248=) c.545A= (p.Lys182=) n.815A= n.805A= | |
2 | g.47412511A>C | CA346732281 | MSH2 | c.743A>C (p.Lys248Thr) c.545A>C (p.Lys182Thr) n.815A>C n.805A>C | |
2 | g.47412511A>G | CA16617562 | MSH2 | c.743A>G (p.Lys248Arg) c.545A>G (p.Lys182Arg) n.815A>G n.805A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412511A>T | CA346732285 | MSH2 | c.743A>T (p.Lys248Ile) c.545A>T (p.Lys182Ile) n.815A>T n.805A>T | |
2 | g.47412512A= | CA2495832753 | MSH2 | c.744A= (p.Lys248=) c.546A= (p.Lys182=) n.816A= n.806A= | |
2 | g.47412512A>C | CA16610847 | MSH2 | c.744A>C (p.Lys248Asn) c.546A>C (p.Lys182Asn) n.816A>C n.806A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412512A>G | CA425967837 | MSH2 | c.744A>G (p.Lys248=) c.546A>G (p.Lys182=) n.816A>G n.806A>G | |
2 | g.47412512A>T | CA346732288 | MSH2 | c.744A>T (p.Lys248Asn) c.546A>T (p.Lys182Asn) n.816A>T n.806A>T | dbSNP |
2 | g.47412513A>C | CA346732290 | MSH2 | c.745A>C (p.Lys249Gln) c.547A>C (p.Lys183Gln) n.817A>C n.807A>C | |
2 | g.47412513A>G | CA346732292 | MSH2 | c.745A>G (p.Lys249Glu) c.547A>G (p.Lys183Glu) n.817A>G n.807A>G | ClinVar |
2 | g.47412513A>T | CA346732293 | MSH2 | c.745A>T (p.Lys249Ter) c.547A>T (p.Lys183Ter) n.817A>T n.807A>T | |
2 | g.47412514A= | CA2495832754 | MSH2 | c.746A= (p.Lys249=) c.548A= (p.Lys183=) n.818A= n.808A= | |
2 | g.47412514A>C | CA16617563 | MSH2 | c.746A>C (p.Lys249Thr) c.548A>C (p.Lys183Thr) n.818A>C n.808A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412514A>G | CA346732298 | MSH2 | c.746A>G (p.Lys249Arg) c.548A>G (p.Lys183Arg) n.818A>G n.808A>G | ClinVar dbSNP |
2 | g.47412514A>T | CA346732301 | MSH2 | c.746A>T (p.Lys249Met) c.548A>T (p.Lys183Met) n.818A>T n.808A>T | |
2 | g.47412514_47412515del | CA2586969199 | MSH2 | c.746_747del (p.Lys249ArgfsTer6) c.548_549del (p.Lys183ArgfsTer6) n.818_819del n.808_809del | ClinVar gnomAD v4 |
2 | g.47412516_47412519del | CA2695200772 | MSH2 | c.748_751del (p.Gly250SerfsTer3) c.550_553del (p.Gly184SerfsTer3) n.820_823del n.810_813del | ClinVar |
2 | g.47412515_47412525del | CA2699270010 | MSH2 | c.747_757del (p.Lys249AsnfsTer3) c.549_559del (p.Lys183AsnfsTer3) n.819_829del n.809_819del | dbSNP |
2 | g.47412515G>A | CA022163 | MSH2 | c.747G>A (p.Lys249=) c.549G>A (p.Lys183=) n.819G>A n.809G>A | ClinVar dbSNP |
2 | g.47412515G>C | CA10584209 | MSH2 | c.747G>C (p.Lys249Asn) c.549G>C (p.Lys183Asn) n.819G>C n.809G>C | ClinVar dbSNP |
2 | g.47412515G= | CA2495832755 | MSH2 | c.747G= (p.Lys249=) c.549G= (p.Lys183=) n.819G= n.809G= | |
2 | g.47412515G>T | CA346732305 | MSH2 | c.747G>T (p.Lys249Asn) c.549G>T (p.Lys183Asn) n.819G>T n.809G>T | dbSNP |
2 | g.47412517del | CA645531414 | MSH2 | c.749del (p.Gly250GlufsTer4) c.551del (p.Gly184GlufsTer4) n.821del n.811del | ClinVar COSMIC |
2 | g.47412516G>A | CA346732311 | MSH2 | c.748G>A (p.Gly250Arg) c.550G>A (p.Gly184Arg) n.820G>A n.810G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412516G>C | CA346732314 | MSH2 | c.748G>C (p.Gly250Arg) c.550G>C (p.Gly184Arg) n.820G>C n.810G>C | |
2 | g.47412516G= | CA2495832756 | MSH2 | c.748G= (p.Gly250=) c.550G= (p.Gly184=) n.820G= n.810G= | |
2 | g.47412516G>T | CA348603 | MSH2 | c.748G>T (p.Gly250Ter) c.550G>T (p.Gly184Ter) n.820G>T n.810G>T | ClinVar dbSNP |
2 | g.47412517G>A | CA022167 | MSH2 | c.749G>A (p.Gly250Glu) c.551G>A (p.Gly184Glu) n.821G>A n.811G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.47412517G>C | CA346732319 | MSH2 | c.749G>C (p.Gly250Ala) c.551G>C (p.Gly184Ala) n.821G>C n.811G>C | |
2 | g.47412517G= | CA2495832757 | MSH2 | c.749G= (p.Gly250=) c.551G= (p.Gly184=) n.821G= n.811G= | |
2 | g.47412517G>T | CA022174 | MSH2 | c.749G>T (p.Gly250Val) c.551G>T (p.Gly184Val) n.821G>T n.811G>T | ClinVar dbSNP |
2 | g.47412518A>C | CA425967867 | MSH2 | c.750A>C (p.Gly250=) c.552A>C (p.Gly184=) n.822A>C n.812A>C | |
2 | g.47412518A>G | CA425967869 | MSH2 | c.750A>G (p.Gly250=) c.552A>G (p.Gly184=) n.822A>G n.812A>G | ClinVar dbSNP |
2 | g.47412518A>T | CA425967871 | MSH2 | c.750A>T (p.Gly250=) c.552A>T (p.Gly184=) n.822A>T n.812A>T | |
2 | g.47412519G>A | CA040269 | MSH2 | c.751G>A (p.Glu251Lys) c.553G>A (p.Glu185Lys) n.823G>A n.813G>A | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.47412519G>C | CA346732322 | MSH2 | c.751G>C (p.Glu251Gln) c.553G>C (p.Glu185Gln) n.823G>C n.813G>C | dbSNP |
2 | g.47412519G= | CA2495832758 | MSH2 | c.751G= (p.Glu251=) c.553G= (p.Glu185=) n.823G= n.813G= | |
2 | g.47412519G>T | CA346732324 | MSH2 | c.751G>T (p.Glu251Ter) c.553G>T (p.Glu185Ter) n.823G>T n.813G>T | |
2 | g.47412520A>C | CA346732327 | MSH2 | c.752A>C (p.Glu251Ala) c.554A>C (p.Glu185Ala) n.824A>C n.814A>C | |
2 | g.47412520A>G | CA346732328 | MSH2 | c.752A>G (p.Glu251Gly) c.554A>G (p.Glu185Gly) n.824A>G n.814A>G | ClinVar dbSNP |
2 | g.47412520A>T | CA346732330 | MSH2 | c.752A>T (p.Glu251Val) c.554A>T (p.Glu185Val) n.824A>T n.814A>T | dbSNP |
2 | g.47412521G>A | CA425967882 | MSH2 | c.753G>A (p.Glu251=) c.555G>A (p.Glu185=) n.825G>A n.815G>A | ClinVar dbSNP |
2 | g.47412521G>C | CA346732332 | MSH2 | c.753G>C (p.Glu251Asp) c.555G>C (p.Glu185Asp) n.825G>C n.815G>C | |
2 | g.47412521G= | CA2495832759 | MSH2 | c.753G= (p.Glu251=) c.555G= (p.Glu185=) n.825G= n.815G= | |
2 | g.47412521G>T | CA346732334 | MSH2 | c.753G>T (p.Glu251Asp) c.555G>T (p.Glu185Asp) n.825G>T n.815G>T | |
2 | g.47412522C>A | CA346732342 | MSH2 | c.754C>A (p.Gln252Lys) c.556C>A (p.Gln186Lys) n.826C>A n.816C>A | dbSNP |
2 | g.47412522C= | CA2495832760 | MSH2 | c.754C= (p.Gln252=) c.556C= (p.Gln186=) n.826C= n.816C= | |
2 | g.47412522C>G | CA46681506 | MSH2 | c.754C>G (p.Gln252Glu) c.556C>G (p.Gln186Glu) n.826C>G n.816C>G | dbSNP |
2 | g.47412522C>T | CA022185 | MSH2 | c.754C>T (p.Gln252Ter) c.556C>T (p.Gln186Ter) n.826C>T n.816C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412523A= | CA2495832761 | MSH2 | c.755A= (p.Gln252=) c.557A= (p.Gln186=) n.827A= n.817A= | |
2 | g.47412523A>C | CA10577948 | MSH2 | c.755A>C (p.Gln252Pro) c.557A>C (p.Gln186Pro) n.827A>C n.817A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412523A>G | CA040278 | MSH2 | c.755A>G (p.Gln252Arg) c.557A>G (p.Gln186Arg) n.827A>G n.817A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412523A>T | CA346732348 | MSH2 | c.755A>T (p.Gln252Leu) c.557A>T (p.Gln186Leu) n.827A>T n.817A>T | ClinVar |
2 | g.47412523_47412526dup | CA2573134699 | MSH2 | c.755_758dup (p.Met253IlefsTer4) c.557_560dup (p.Met187IlefsTer4) n.827_830dup n.817_820dup | ClinVar dbSNP |
2 | g.47412524G>A | CA425967900 | MSH2 | c.756G>A (p.Gln252=) c.558G>A (p.Gln186=) n.828G>A n.818G>A | dbSNP |
2 | g.47412524G>C | CA040292 | MSH2 | c.756G>C (p.Gln252His) c.558G>C (p.Gln186His) n.828G>C n.818G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412524G= | CA2495832762 | MSH2 | c.756G= (p.Gln252=) c.558G= (p.Gln186=) n.828G= n.818G= | |
2 | g.47412524G>T | CA346732351 | MSH2 | c.756G>T (p.Gln252His) c.558G>T (p.Gln186His) n.828G>T n.818G>T | ClinVar dbSNP |
2 | g.47412524_47412528delinsGATGA | CA2495832763 | MSH2 | c.756_760delinsGATGA (p.Gln252=) c.558_562delinsGATGA (p.Gln186=) n.828_832delinsGATGA n.818_822delinsGATGA | |
2 | g.47412524_47412525insC | CA46681529 | MSH2 | c.756_757insC (p.Met253HisfsTer3) c.558_559insC (p.Met187HisfsTer3) n.828_829insC n.818_819insC | dbSNP |
2 | g.47412525A= | CA2495832764 | MSH2 | c.757A= (p.Met253=) c.559A= (p.Met187=) n.829A= n.819A= | |
2 | g.47412525A>C | CA346732354 | MSH2 | c.757A>C (p.Met253Leu) c.559A>C (p.Met187Leu) n.829A>C n.819A>C | |
2 | g.47412525A>G | CA346732357 | MSH2 | c.757A>G (p.Met253Val) c.559A>G (p.Met187Val) n.829A>G n.819A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412525A>T | CA346732359 | MSH2 | c.757A>T (p.Met253Leu) c.559A>T (p.Met187Leu) n.829A>T n.819A>T | ClinVar dbSNP |
2 | g.47412527_47412530del | CA022190 | MSH2 | c.759_762del (p.Met253IlefsTer20) c.561_564del (p.Met187IlefsTer20) n.831_834del n.821_824del | ClinVar dbSNP |
2 | g.47412526T>A | CA346732361 | MSH2 | c.758T>A (p.Met253Lys) c.560T>A (p.Met187Lys) n.830T>A n.820T>A | dbSNP |
2 | g.47412526T>C | CA346732363 | MSH2 | c.758T>C (p.Met253Thr) c.560T>C (p.Met187Thr) n.830T>C n.820T>C | ClinVar dbSNP |
2 | g.47412526T>G | CA346732365 | MSH2 | c.758T>G (p.Met253Arg) c.560T>G (p.Met187Arg) n.830T>G n.820T>G | ClinVar dbSNP |
2 | g.47412526dup | CA2695200773 | MSH2 | c.758dup (p.Met253IlefsTer3) c.560dup (p.Met187IlefsTer3) n.830dup n.820dup | ClinVar |
2 | g.47412526_47412527delinsTG | CA2495832765 | MSH2 | c.758_759delinsTG (p.Met253=) c.560_561delinsTG (p.Met187=) n.830_831delinsTG n.820_821delinsTG | |
2 | g.47412527del | CA022195 | MSH2 | c.759del (p.Met253IlefsTer21) c.561del (p.Met187IlefsTer21) n.831del n.821del | ClinVar dbSNP |
2 | g.47412527G>A | CA16610795 | MSH2 | c.759G>A (p.Met253Ile) c.561G>A (p.Met187Ile) n.831G>A n.821G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412527G>C | CA346732367 | MSH2 | c.759G>C (p.Met253Ile) c.561G>C (p.Met187Ile) n.831G>C n.821G>C | ClinVar dbSNP |
2 | g.47412527G= | CA2495832767 | MSH2 | c.759G= (p.Met253=) c.561G= (p.Met187=) n.831G= n.821G= | |
2 | g.47412527G>T | CA346732369 | MSH2 | c.759G>T (p.Met253Ile) c.561G>T (p.Met187Ile) n.831G>T n.821G>T | dbSNP |
2 | g.47412527_47412528delinsGA | CA2495832766 | MSH2 | c.759_760delinsGA (p.Met253=) c.561_562delinsGA (p.Met187=) n.831_832delinsGA n.821_822delinsGA | |
2 | g.47412530_47412548del | CA2573051955 | MSH2 | c.762_780del (p.Asn254LysfsTer14) c.564_582del (p.Asn188LysfsTer14) n.834_852del n.824_842del | ClinVar dbSNP |
2 | g.47412528A>C | CA346732372 | MSH2 | c.760A>C (p.Asn254His) c.562A>C (p.Asn188His) n.832A>C n.822A>C | ClinVar |
2 | g.47412528A>G | CA346732373 | MSH2 | c.760A>G (p.Asn254Asp) c.562A>G (p.Asn188Asp) n.832A>G n.822A>G | ClinVar dbSNP |
2 | g.47412528A>T | CA346732376 | MSH2 | c.760A>T (p.Asn254Tyr) c.562A>T (p.Asn188Tyr) n.832A>T n.822A>T | dbSNP |
2 | g.47412529dup | CA2580066923 | MSH2 | c.761dup (p.Asn254LysfsTer2) c.563dup (p.Asn188LysfsTer2) n.833dup n.823dup | ClinVar |
2 | g.47412529del | CA022201 | MSH2 | c.761del (p.Asn254IlefsTer20) c.563del (p.Asn188IlefsTer20) n.833del n.823del | ClinVar dbSNP |
2 | g.47412529A= | CA2495832768 | MSH2 | c.761A= (p.Asn254=) c.563A= (p.Asn188=) n.833A= n.823A= | |
2 | g.47412529A>C | CA346732380 | MSH2 | c.761A>C (p.Asn254Thr) c.563A>C (p.Asn188Thr) n.833A>C n.823A>C | |
2 | g.47412529A>G | CA346732382 | MSH2 | c.761A>G (p.Asn254Ser) c.563A>G (p.Asn188Ser) n.833A>G n.823A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412529A>T | CA346732384 | MSH2 | c.761A>T (p.Asn254Ile) c.563A>T (p.Asn188Ile) n.833A>T n.823A>T | |
2 | g.47412530_47412531del | CA2695200777 | MSH2 | c.762_763del (p.Asn254LysfsTer29) c.564_565del (p.Asn188LysfsTer29) n.834_835del n.824_825del | ClinVar |
2 | g.47412530T>A | CA346732386 | MSH2 | c.762T>A (p.Asn254Lys) c.564T>A (p.Asn188Lys) n.834T>A n.824T>A | dbSNP |
2 | g.47412530T>C | CA022206 | MSH2 | c.762T>C (p.Asn254=) c.564T>C (p.Asn188=) n.834T>C n.824T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412530T>G | CA346732390 | MSH2 | c.762T>G (p.Asn254Lys) c.564T>G (p.Asn188Lys) n.834T>G n.824T>G | |
2 | g.47412530T= | CA2495832770 | MSH2 | c.762T= (p.Asn254=) c.564T= (p.Asn188=) n.834T= n.824T= | |
2 | g.47412530dup | CA2695200778 | MSH2 | c.762dup (p.Ser255Ter) c.564dup (p.Ser189Ter) n.834dup n.824dup | ClinVar |
2 | g.47412530_47412534delinsTAGTG | CA2495832769 | MSH2 | c.762_766delinsTAGTG (p.Asn254=) c.564_568delinsTAGTG (p.Asn188=) n.834_838delinsTAGTG n.824_828delinsTAGTG | |
2 | g.47412531del | CA2580066928 | MSH2 | c.763del (p.Ser255ValfsTer19) c.565del (p.Ser189ValfsTer19) n.835del n.825del | ClinVar |
2 | g.47412531A= | CA2495832771 | MSH2 | c.763A= (p.Ser255=) c.565A= (p.Ser189=) n.835A= n.825A= | |
2 | g.47412531A>C | CA346732397 | MSH2 | c.763A>C (p.Ser255Arg) c.565A>C (p.Ser189Arg) n.835A>C n.825A>C | ClinVar dbSNP gnomAD v2 |
2 | g.47412531A>G | CA040330 | MSH2 | c.763A>G (p.Ser255Gly) c.565A>G (p.Ser189Gly) n.835A>G n.825A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412531A>T | CA346732394 | MSH2 | c.763A>T (p.Ser255Cys) c.565A>T (p.Ser189Cys) n.835A>T n.825A>T | |
2 | g.47412531_47412534delinsTT | CA022212 | MSH2 | c.763_766delinsTT (p.Ser255PhefsTer28) c.565_568delinsTT (p.Ser189PhefsTer28) n.835_838delinsTT n.825_828delinsTT | ClinVar dbSNP |
2 | g.47412532G>A | CA040340 | MSH2 | c.764G>A (p.Ser255Asn) c.566G>A (p.Ser189Asn) n.836G>A n.826G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412532G>C | CA46681579 | MSH2 | c.764G>C (p.Ser255Thr) c.566G>C (p.Ser189Thr) n.836G>C n.826G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412532G= | CA2495832772 | MSH2 | c.764G= (p.Ser255=) c.566G= (p.Ser189=) n.836G= n.826G= | |
2 | g.47412532G>T | CA346732401 | MSH2 | c.764G>T (p.Ser255Ile) c.566G>T (p.Ser189Ile) n.836G>T n.826G>T | |
2 | g.47412532_47412544del | CA2580066930 | MSH2 | c.764_776del (p.Ser255LysfsTer15) c.566_578del (p.Ser189LysfsTer15) n.836_848del n.826_838del | ClinVar |
2 | g.47412533T>A | CA346732404 | MSH2 | c.765T>A (p.Ser255Arg) c.567T>A (p.Ser189Arg) n.837T>A n.827T>A | dbSNP |
2 | g.47412533T>C | CA46681580 | MSH2 | c.765T>C (p.Ser255=) c.567T>C (p.Ser189=) n.837T>C n.827T>C | ClinVar dbSNP |
2 | g.47412533T>G | CA346732405 | MSH2 | c.765T>G (p.Ser255Arg) c.567T>G (p.Ser189Arg) n.837T>G n.827T>G | |
2 | g.47412533T= | CA2495832773 | MSH2 | c.765T= (p.Ser255=) c.567T= (p.Ser189=) n.837T= n.827T= | |
2 | g.47412533dup | CA2580066931 | MSH2 | c.765dup (p.Ala256CysfsTer28) c.567dup (p.Ala190CysfsTer28) n.837dup n.827dup | ClinVar |
2 | g.47412534G>A | CA022219 | MSH2 | c.766G>A (p.Ala256Thr) c.568G>A (p.Ala190Thr) n.838G>A n.828G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412534G>C | CA346732409 | MSH2 | c.766G>C (p.Ala256Pro) c.568G>C (p.Ala190Pro) n.838G>C n.828G>C | dbSNP |
2 | g.47412534G= | CA2495832774 | MSH2 | c.766G= (p.Ala256=) c.568G= (p.Ala190=) n.838G= n.828G= | |
2 | g.47412534G>T | CA346732411 | MSH2 | c.766G>T (p.Ala256Ser) c.568G>T (p.Ala190Ser) n.838G>T n.828G>T | dbSNP |
2 | g.47412535C>A | CA346732413 | MSH2 | c.767C>A (p.Ala256Asp) c.569C>A (p.Ala190Asp) n.839C>A n.829C>A | |
2 | g.47412535C= | CA2495832775 | MSH2 | c.767C= (p.Ala256=) c.569C= (p.Ala190=) n.839C= n.829C= | |
2 | g.47412535C>G | CA346732414 | MSH2 | c.767C>G (p.Ala256Gly) c.569C>G (p.Ala190Gly) n.839C>G n.829C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412535C>T | CA346732415 | MSH2 | c.767C>T (p.Ala256Val) c.569C>T (p.Ala190Val) n.839C>T n.829C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412535_47412536dup | CA331679 | MSH2 | c.767_768dup (p.Val257LeufsTer18) c.569_570dup (p.Val191LeufsTer18) n.839_840dup n.829_830dup | ClinVar dbSNP |
2 | g.47412536T>A | CA425967964 | MSH2 | c.768T>A (p.Ala256=) c.570T>A (p.Ala190=) n.840T>A n.830T>A | |
2 | g.47412536T>C | CA46681592 | MSH2 | c.768T>C (p.Ala256=) c.570T>C (p.Ala190=) n.840T>C n.830T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412536T>G | CA425967967 | MSH2 | c.768T>G (p.Ala256=) c.570T>G (p.Ala190=) n.840T>G n.830T>G | |
2 | g.47412536T= | CA2495832776 | MSH2 | c.768T= (p.Ala256=) c.570T= (p.Ala190=) n.840T= n.830T= | |
2 | g.47412537G>A | CA10577949 | MSH2 | c.769G>A (p.Val257Ile) c.571G>A (p.Val191Ile) n.841G>A n.831G>A | ClinVar dbSNP |
2 | g.47412537G>C | CA346732421 | MSH2 | c.769G>C (p.Val257Leu) c.571G>C (p.Val191Leu) n.841G>C n.831G>C | dbSNP |
2 | g.47412537G= | CA2495832777 | MSH2 | c.769G= (p.Val257=) c.571G= (p.Val191=) n.841G= n.831G= | |
2 | g.47412537G>T | CA346732419 | MSH2 | c.769G>T (p.Val257Leu) c.571G>T (p.Val191Leu) n.841G>T n.831G>T | |
2 | g.47412537_47412539delinsGTA | CA2495832778 | MSH2 | c.769_771delinsGTA (p.Val257=) c.571_573delinsGTA (p.Val191=) n.841_843delinsGTA n.831_833delinsGTA | |
2 | g.47412538_47412554del | CA2580066932 | MSH2 | c.770_786del (p.Val257GlufsTer21) c.572_588del (p.Val191GlufsTer21) n.842_858del n.832_848del | ClinVar |
2 | g.47412538T>A | CA346732423 | MSH2 | c.770T>A (p.Val257Glu) c.572T>A (p.Val191Glu) n.842T>A n.832T>A | dbSNP |
2 | g.47412538T>C | CA346732428 | MSH2 | c.770T>C (p.Val257Ala) c.572T>C (p.Val191Ala) n.842T>C n.832T>C | |
2 | g.47412538T>G | CA346732426 | MSH2 | c.770T>G (p.Val257Gly) c.572T>G (p.Val191Gly) n.842T>G n.832T>G | |
2 | g.47412539_47412540del | CA913187987 | MSH2 | c.771_772del (p.Leu258AlafsTer25) c.573_574del (p.Leu192AlafsTer25) n.843_844del n.833_834del | ClinVar dbSNP |
2 | g.47412539A= | CA2495832779 | MSH2 | c.771A= (p.Val257=) c.573A= (p.Val191=) n.843A= n.833A= | |
2 | g.47412539A>C | CA425967973 | MSH2 | c.771A>C (p.Val257=) c.573A>C (p.Val191=) n.843A>C n.833A>C | ClinVar dbSNP |
2 | g.47412539A>G | CA425967975 | MSH2 | c.771A>G (p.Val257=) c.573A>G (p.Val191=) n.843A>G n.833A>G | ClinVar |
2 | g.47412539A>T | CA425967976 | MSH2 | c.771A>T (p.Val257=) c.573A>T (p.Val191=) n.843A>T n.833A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412540T>A | CA346732430 | MSH2 | c.772T>A (p.Leu258Met) c.574T>A (p.Leu192Met) n.844T>A n.834T>A | |
2 | g.47412540T>C | CA425967981 | MSH2 | c.772T>C (p.Leu258=) c.574T>C (p.Leu192=) n.844T>C n.834T>C | |
2 | g.47412540T>G | CA346732432 | MSH2 | c.772T>G (p.Leu258Val) c.574T>G (p.Leu192Val) n.844T>G n.834T>G | |
2 | g.47412540_47412541insC | CA2658946233 | MSH2 | c.772_773insC (p.Leu258SerfsTer26) c.574_575insC (p.Leu192SerfsTer26) n.844_845insC n.834_835insC | gnomAD v4 |
2 | g.47412541T>A | CA346732434 | MSH2 | c.773T>A (p.Leu258Ter) c.575T>A (p.Leu192Ter) n.845T>A n.835T>A | ClinVar dbSNP |
2 | g.47412541T>C | CA346732436 | MSH2 | c.773T>C (p.Leu258Ser) c.575T>C (p.Leu192Ser) n.845T>C n.835T>C | |
2 | g.47412541T>G | CA346732438 | MSH2 | c.773T>G (p.Leu258Trp) c.575T>G (p.Leu192Trp) n.845T>G n.835T>G | |
2 | g.47412542G>A | CA040381 | MSH2 | c.774G>A (p.Leu258=) c.576G>A (p.Leu192=) n.846G>A n.836G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412542G>C | CA346732443 | MSH2 | c.774G>C (p.Leu258Phe) c.576G>C (p.Leu192Phe) n.846G>C n.836G>C | |
2 | g.47412542G= | CA2495832780 | MSH2 | c.774G= (p.Leu258=) c.576G= (p.Leu192=) n.846G= n.836G= | |
2 | g.47412542G>T | CA040395 | MSH2 | c.774G>T (p.Leu258Phe) c.576G>T (p.Leu192Phe) n.846G>T n.836G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412543C>A | CA346732446 | MSH2 | c.775C>A (p.Pro259Thr) c.577C>A (p.Pro193Thr) n.847C>A n.837C>A | dbSNP gnomAD v4 |
2 | g.47412543C= | CA2495832781 | MSH2 | c.775C= (p.Pro259=) c.577C= (p.Pro193=) n.847C= n.837C= | |
2 | g.47412543C>G | CA346732447 | MSH2 | c.775C>G (p.Pro259Ala) c.577C>G (p.Pro193Ala) n.847C>G n.837C>G | dbSNP |
2 | g.47412543C>T | CA022230 | MSH2 | c.775C>T (p.Pro259Ser) c.577C>T (p.Pro193Ser) n.847C>T n.837C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412544del | CA2586969206 | MSH2 | c.776del (p.Pro259GlnfsTer15) c.578del (p.Pro193GlnfsTer15) n.848del n.838del | ClinVar |
2 | g.47412544C>A | CA46681638 | MSH2 | c.776C>A (p.Pro259Gln) c.578C>A (p.Pro193Gln) n.848C>A n.838C>A | dbSNP |
2 | g.47412544C= | CA2495832782 | MSH2 | c.776C= (p.Pro259=) c.578C= (p.Pro193=) n.848C= n.838C= | |
2 | g.47412544C>G | CA346732452 | MSH2 | c.776C>G (p.Pro259Arg) c.578C>G (p.Pro193Arg) n.848C>G n.838C>G | ClinVar dbSNP |
2 | g.47412544C>T | CA346732454 | MSH2 | c.776C>T (p.Pro259Leu) c.578C>T (p.Pro193Leu) n.848C>T n.838C>T | ClinVar dbSNP |
2 | g.47412545A= | CA2495832783 | MSH2 | c.777A= (p.Pro259=) c.579A= (p.Pro193=) n.849A= n.839A= | |
2 | g.47412545A>C | CA425968004 | MSH2 | c.777A>C (p.Pro259=) c.579A>C (p.Pro193=) n.849A>C n.839A>C | |
2 | g.47412545A>G | CA46681641 | MSH2 | c.777A>G (p.Pro259=) c.579A>G (p.Pro193=) n.849A>G n.839A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.47412545A>T | CA425968009 | MSH2 | c.777A>T (p.Pro259=) c.579A>T (p.Pro193=) n.849A>T n.839A>T | ClinVar dbSNP |
2 | g.47412546G>A | CA346732458 | MSH2 | c.778G>A (p.Glu260Lys) c.580G>A (p.Glu194Lys) n.850G>A n.840G>A | ClinVar dbSNP |
2 | g.47412546G>C | CA346732460 | MSH2 | c.778G>C (p.Glu260Gln) c.580G>C (p.Glu194Gln) n.850G>C n.840G>C | dbSNP |
2 | g.47412546G= | CA2495832784 | MSH2 | c.778G= (p.Glu260=) c.580G= (p.Glu194=) n.850G= n.840G= | |
2 | g.47412546G>T | CA346732461 | MSH2 | c.778G>T (p.Glu260Ter) c.580G>T (p.Glu194Ter) n.850G>T n.840G>T | ClinVar |
2 | g.47412546_47412548delinsTT | CA2580066945 | MSH2 | c.778_780delinsTT (p.Glu260LeufsTer14) c.580_582delinsTT (p.Glu194LeufsTer14) n.850_852delinsTT n.840_842delinsTT | ClinVar |
2 | g.47412547A= | CA2495832785 | MSH2 | c.779A= (p.Glu260=) c.581A= (p.Glu194=) n.851A= n.841A= | |
2 | g.47412547A>C | CA346732464 | MSH2 | c.779A>C (p.Glu260Ala) c.581A>C (p.Glu194Ala) n.851A>C n.841A>C | |
2 | g.47412547A>G | CA346732466 | MSH2 | c.779A>G (p.Glu260Gly) c.581A>G (p.Glu194Gly) n.851A>G n.841A>G | |
2 | g.47412547A>T | CA346732467 | MSH2 | c.779A>T (p.Glu260Val) c.581A>T (p.Glu194Val) n.851A>T n.841A>T | ClinVar dbSNP |
2 | g.47412548A>C | CA346732468 | MSH2 | c.780A>C (p.Glu260Asp) c.582A>C (p.Glu194Asp) n.852A>C n.842A>C | |
2 | g.47412548A>G | CA425968020 | MSH2 | c.780A>G (p.Glu260=) c.582A>G (p.Glu194=) n.852A>G n.842A>G | ClinVar |
2 | g.47412548A>T | CA346732469 | MSH2 | c.780A>T (p.Glu260Asp) c.582A>T (p.Glu194Asp) n.852A>T n.842A>T | |
2 | g.47412549A= | CA2495832786 | MSH2 | c.781A= (p.Met261=) c.583A= (p.Met195=) n.853A= n.843A= | |
2 | g.47412549A>C | CA346732471 | MSH2 | c.781A>C (p.Met261Leu) c.583A>C (p.Met195Leu) n.853A>C n.843A>C | |
2 | g.47412549A>G | CA16611007 | MSH2 | c.781A>G (p.Met261Val) c.583A>G (p.Met195Val) n.853A>G n.843A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412549A>T | CA022236 | MSH2 | c.781A>T (p.Met261Leu) c.583A>T (p.Met195Leu) n.853A>T n.843A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412549_47412550delinsAT | CA2495832787 | MSH2 | c.781_782delinsAT (p.Met261=) c.583_584delinsAT (p.Met195=) n.853_854delinsAT n.843_844delinsAT | |
2 | g.47412550del | CA46681652 | MSH2 | c.782del (p.Met261ArgfsTer13) c.584del (p.Met195ArgfsTer13) n.854del n.844del | dbSNP |
2 | g.47412550T>A | CA346732480 | MSH2 | c.782T>A (p.Met261Lys) c.584T>A (p.Met195Lys) n.854T>A n.844T>A | dbSNP |
2 | g.47412550T>C | CA022248 | MSH2 | c.782T>C (p.Met261Thr) c.584T>C (p.Met195Thr) n.854T>C n.844T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412550T>G | CA346732478 | MSH2 | c.782T>G (p.Met261Arg) c.584T>G (p.Met195Arg) n.854T>G n.844T>G | |
2 | g.47412550T= | CA2495832788 | MSH2 | c.782T= (p.Met261=) c.584T= (p.Met195=) n.854T= n.844T= | |
2 | g.47412550_47412551insA | CA022242 | MSH2 | c.782_783insA (p.Met261IlefsTer23) c.584_585insA (p.Met195IlefsTer23) n.854_855insA n.844_845insA | ClinVar dbSNP |
2 | g.47412551G>A | CA346732485 | MSH2 | c.783G>A (p.Met261Ile) c.585G>A (p.Met195Ile) n.855G>A n.845G>A | ClinVar dbSNP gnomAD v2 |
2 | g.47412551G>C | CA346732487 | MSH2 | c.783G>C (p.Met261Ile) c.585G>C (p.Met195Ile) n.855G>C n.845G>C | |
2 | g.47412551G= | CA2495832789 | MSH2 | c.783G= (p.Met261=) c.585G= (p.Met195=) n.855G= n.845G= | |
2 | g.47412551G>T | CA346732489 | MSH2 | c.783G>T (p.Met261Ile) c.585G>T (p.Met195Ile) n.855G>T n.845G>T | dbSNP |
2 | g.47412552dup | CA2573134700 | MSH2 | c.784dup (p.Glu262GlyfsTer22) c.586dup (p.Glu196GlyfsTer22) n.856dup n.846dup | ClinVar dbSNP |
2 | g.47412552G>A | CA346732491 | MSH2 | c.784G>A (p.Glu262Lys) c.586G>A (p.Glu196Lys) n.856G>A n.846G>A | ClinVar dbSNP |
2 | g.47412552G>C | CA346732493 | MSH2 | c.784G>C (p.Glu262Gln) c.586G>C (p.Glu196Gln) n.856G>C n.846G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412552G= | CA2495832790 | MSH2 | c.784G= (p.Glu262=) c.586G= (p.Glu196=) n.856G= n.846G= | |
2 | g.47412552G>T | CA346732495 | MSH2 | c.784G>T (p.Glu262Ter) c.586G>T (p.Glu196Ter) n.856G>T n.846G>T | ClinVar |
2 | g.47412553A= | CA2495832791 | MSH2 | c.785A= (p.Glu262=) c.587A= (p.Glu196=) n.857A= n.847A= | |
2 | g.47412553A>C | CA346732498 | MSH2 | c.785A>C (p.Glu262Ala) c.587A>C (p.Glu196Ala) n.857A>C n.847A>C | |
2 | g.47412553A>G | CA346732500 | MSH2 | c.785A>G (p.Glu262Gly) c.587A>G (p.Glu196Gly) n.857A>G n.847A>G | dbSNP gnomAD v4 |
2 | g.47412553A>T | CA346732502 | MSH2 | c.785A>T (p.Glu262Val) c.587A>T (p.Glu196Val) n.857A>T n.847A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412554G>A | CA425968056 | MSH2 | c.786G>A (p.Glu262=) c.588G>A (p.Glu196=) n.858G>A n.848G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412554G>C | CA040426 | MSH2 | c.786G>C (p.Glu262Asp) c.588G>C (p.Glu196Asp) n.858G>C n.848G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412554G= | CA2495832792 | MSH2 | c.786G= (p.Glu262=) c.588G= (p.Glu196=) n.858G= n.848G= | |
2 | g.47412554G>T | CA16611010 | MSH2 | c.786G>T (p.Glu262Asp) c.588G>T (p.Glu196Asp) n.858G>T n.848G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412555A= | CA2495832794 | MSH2 | c.787A= (p.Asn263=) c.589A= (p.Asn197=) n.859A= n.849A= | |
2 | g.47412555A>C | CA10577950 | MSH2 | c.787A>C (p.Asn263His) c.589A>C (p.Asn197His) n.859A>C n.849A>C | ClinVar dbSNP |
2 | g.47412555A>G | CA346732505 | MSH2 | c.787A>G (p.Asn263Asp) c.589A>G (p.Asn197Asp) n.859A>G n.849A>G | dbSNP |
2 | g.47412555A>T | CA346732507 | MSH2 | c.787A>T (p.Asn263Tyr) c.589A>T (p.Asn197Tyr) n.859A>T n.849A>T | ClinVar dbSNP |
2 | g.47412555_47412557delinsAAT | CA2495832793 | MSH2 | c.787_789delinsAAT (p.Asn263=) c.589_591delinsAAT (p.Asn197=) n.859_861delinsAAT n.849_851delinsAAT | |
2 | g.47412556A= | CA2495832795 | MSH2 | c.788A= (p.Asn263=) c.590A= (p.Asn197=) n.860A= n.850A= | |
2 | g.47412556A>C | CA346732510 | MSH2 | c.788A>C (p.Asn263Thr) c.590A>C (p.Asn197Thr) n.860A>C n.850A>C | |
2 | g.47412556A>G | CA346732512 | MSH2 | c.788A>G (p.Asn263Ser) c.590A>G (p.Asn197Ser) n.860A>G n.850A>G | ClinVar dbSNP |
2 | g.47412556A>T | CA346732514 | MSH2 | c.788A>T (p.Asn263Ile) c.590A>T (p.Asn197Ile) n.860A>T n.850A>T | ClinVar dbSNP |
2 | g.47412556_47412557del | CA022259 | MSH2 | c.788_789del (p.Asn263ThrfsTer20) c.590_591del (p.Asn197ThrfsTer20) n.860_861del n.850_851del | ClinVar dbSNP |
2 | g.47412557del | CA2580066953 | MSH2 | c.789del (p.Gln264ArgfsTer10) c.591del (p.Gln198ArgfsTer10) n.861del n.851del | ClinVar |
2 | g.47412557T>A | CA346732518 | MSH2 | c.789T>A (p.Asn263Lys) c.591T>A (p.Asn197Lys) n.861T>A n.851T>A | dbSNP |
2 | g.47412557T>C | CA425968078 | MSH2 | c.789T>C (p.Asn263=) c.591T>C (p.Asn197=) n.861T>C n.851T>C | |
2 | g.47412557T>G | CA10582001 | MSH2 | c.789T>G (p.Asn263Lys) c.591T>G (p.Asn197Lys) n.861T>G n.851T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412557T= | CA2495832796 | MSH2 | c.789T= (p.Asn263=) c.591T= (p.Asn197=) n.861T= n.851T= | |
2 | g.47412558C>A | CA346732521 | MSH2 | c.790C>A (p.Gln264Lys) c.592C>A (p.Gln198Lys) n.862C>A n.852C>A | gnomAD v4 |
2 | g.47412558C= | CA2495832797 | MSH2 | c.790C= (p.Gln264=) c.592C= (p.Gln198=) n.862C= n.852C= | |
2 | g.47412558C>G | CA346732524 | MSH2 | c.790C>G (p.Gln264Glu) c.592C>G (p.Gln198Glu) n.862C>G n.852C>G | dbSNP |
2 | g.47412558C>T | CA10582002 | MSH2 | c.790C>T (p.Gln264Ter) c.592C>T (p.Gln198Ter) n.862C>T n.852C>T | ClinVar dbSNP |
2 | g.47412558dup | CA645369194 | MSH2 | c.790dup (p.Gln264ProfsTer20) c.592dup (p.Gln198ProfsTer20) n.862dup n.852dup | ClinVar dbSNP |
2 | g.47412559A= | CA2495832799 | MSH2 | c.791A= (p.Gln264=) c.593A= (p.Gln198=) n.863A= n.853A= | |
2 | g.47412559A>C | CA346732527 | MSH2 | c.791A>C (p.Gln264Pro) c.593A>C (p.Gln198Pro) n.863A>C n.853A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412559A>G | CA022268 | MSH2 | c.791A>G (p.Gln264Arg) c.593A>G (p.Gln198Arg) n.863A>G n.853A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412559A>T | CA346732530 | MSH2 | c.791A>T (p.Gln264Leu) c.593A>T (p.Gln198Leu) n.863A>T n.853A>T | ClinVar |
2 | g.47412559_47412560delinsAG | CA2495832798 | MSH2 | c.791_792delinsAG (p.Gln264=) c.593_594delinsAG (p.Gln198=) n.863_864delinsAG n.853_854delinsAG | |
2 | g.47412560G>A | CA10582003 | MSH2 | c.792G>A (p.Gln264=) c.594G>A (p.Gln198=) n.864G>A n.854G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412560G>C | CA022289 | MSH2 | c.792G>C (p.Gln264His) c.594G>C (p.Gln198His) n.864G>C n.854G>C | ClinVar dbSNP |
2 | g.47412560G= | CA2495832800 | MSH2 | c.792G= (p.Gln264=) c.594G= (p.Gln198=) n.864G= n.854G= | |
2 | g.47412560G>T | CA346732533 | MSH2 | c.792G>T (p.Gln264His) c.594G>T (p.Gln198His) n.864G>T n.854G>T | |
2 | g.47412561del | CA16617564 | MSH2 | c.792+1del c.594+1del n.864+1del n.854+1del | ClinVar dbSNP |
2 | g.47412561G>A | CA022273 | MSH2 | c.792+1G>A (n.792+1G>A) c.594+1G>A (n.594+1G>A) n.864+1G>A n.854+1G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412561G>C | CA346732537 | MSH2 | c.792+1G>C (n.792+1G>C) c.594+1G>C (n.594+1G>C) n.864+1G>C n.854+1G>C | ClinVar dbSNP |
2 | g.47412561G= | CA2495832801 | MSH2 | c.792+1G= (n.792+1G=) c.594+1G= (n.594+1G=) n.864+1G= n.854+1G= | |
2 | g.47412561G>T | CA346732539 | MSH2 | c.792+1G>T (n.792+1G>T) c.594+1G>T (n.594+1G>T) n.864+1G>T n.854+1G>T | ClinVar |
2 | g.47412561_47412562delinsAC | CA2580066958 | MSH2 | c.792+1_792+2delinsAC (n.792+1_792+2delinsAC) c.594+1_594+2delinsAC (n.594+1_594+2delinsAC) n.864+1_864+2delinsAC n.854+1_854+2delinsAC | ClinVar |
2 | g.47412562T>A | CA346732543 | MSH2 | c.792+2T>A (n.792+2T>A) c.594+2T>A (n.594+2T>A) n.864+2T>A n.854+2T>A | ClinVar dbSNP |
2 | g.47412562T>C | CA022278 | MSH2 | c.792+2T>C (n.792+2T>C) c.594+2T>C (n.594+2T>C) n.864+2T>C n.854+2T>C | ClinVar dbSNP |
2 | g.47412562T>G | CA346732547 | MSH2 | c.792+2T>G (n.792+2T>G) c.594+2T>G (n.594+2T>G) n.864+2T>G n.854+2T>G | ClinVar dbSNP |
2 | g.47412562T= | CA2495832802 | MSH2 | c.792+2T= (n.792+2T=) c.594+2T= (n.594+2T=) n.864+2T= n.854+2T= | |
2 | g.47412563dup | CA2658946234 | MSH2 | c.792+3dup (n.792+3dup) c.594+3dup (n.594+3dup) n.864+3dup n.854+3dup | gnomAD v4 |
2 | g.47412564C>A | CA2658946235 | MSH2 | c.792+4C>A (n.792+4C>A) c.594+4C>A (n.594+4C>A) n.864+4C>A n.854+4C>A | gnomAD v4 |
2 | g.47412564C= | CA2495832803 | MSH2 | c.792+4C= (n.792+4C=) c.594+4C= (n.594+4C=) n.864+4C= n.854+4C= | |
2 | g.47412564C>G | CA2699115496 | MSH2 | c.792+4C>G (n.792+4C>G) c.594+4C>G (n.594+4C>G) n.864+4C>G n.854+4C>G | dbSNP |
2 | g.47412564C>T | CA532705155 | MSH2 | c.792+4C>T (n.792+4C>T) c.594+4C>T (n.594+4C>T) n.864+4C>T n.854+4C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412565A= | CA2495832804 | MSH2 | c.792+5A= (n.792+5A=) c.594+5A= (n.594+5A=) n.864+5A= n.854+5A= | |
2 | g.47412565A>G | CA022283 | MSH2 | c.792+5A>G (n.792+5A>G) c.594+5A>G (n.594+5A>G) n.864+5A>G n.854+5A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412566T>A | CA16610798 | MSH2 | c.792+6T>A (n.792+6T>A) c.594+6T>A (n.594+6T>A) n.864+6T>A n.854+6T>A | ClinVar dbSNP |
2 | g.47412566T>C | CA46681745 | MSH2 | c.792+6T>C (n.792+6T>C) c.594+6T>C (n.594+6T>C) n.864+6T>C n.854+6T>C | ClinVar dbSNP |
2 | g.47412566T= | CA2495832805 | MSH2 | c.792+6T= (n.792+6T=) c.594+6T= (n.594+6T=) n.864+6T= n.854+6T= | |
2 | g.47412567G>A | CA1139768270 | MSH2 | c.792+7G>A (n.792+7G>A) c.594+7G>A (n.594+7G>A) n.864+7G>A n.854+7G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412567G>C | CA2699270372 | MSH2 | c.792+7G>C (n.792+7G>C) c.594+7G>C (n.594+7G>C) n.864+7G>C n.854+7G>C | dbSNP |
2 | g.47412568del | CA2576960780 | MSH2 | c.792+8del (n.792+8del) c.594+8del (n.594+8del) n.864+8del n.854+8del | |
2 | g.47412568G>A | CA040511 | MSH2 | c.792+8G>A (n.792+8G>A) c.594+8G>A (n.594+8G>A) n.864+8G>A n.854+8G>A | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.47412568G>C | CA532705156 | MSH2 | c.792+8G>C (n.792+8G>C) c.594+8G>C (n.594+8G>C) n.864+8G>C n.854+8G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412568G= | CA2495832806 | MSH2 | c.792+8G= (n.792+8G=) c.594+8G= (n.594+8G=) n.864+8G= n.854+8G= | |
2 | g.47412568G>T | CA2573134967 | MSH2 | c.792+8G>T (n.792+8G>T) c.594+8G>T (n.594+8G>T) n.864+8G>T n.854+8G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412570_47415848del | CA331682 | MSH2 | c.792+10_943-448del c.594+10_745-448del n.864+10_1015-448del n.854+10_1005-448del | ClinVar |
2 | g.47412569A>C | CA2658946236 | MSH2 | c.792+9A>C (n.792+9A>C) c.594+9A>C (n.594+9A>C) n.864+9A>C n.854+9A>C | gnomAD v4 |
2 | g.47412569A>G | CA2658946237 | MSH2 | c.792+9A>G (n.792+9A>G) c.594+9A>G (n.594+9A>G) n.864+9A>G n.854+9A>G | ClinVar gnomAD v4 |
2 | g.47412570T>C | CA2658946238 | MSH2 | c.792+10T>C (n.792+10T>C) c.594+10T>C (n.594+10T>C) n.864+10T>C n.854+10T>C | ClinVar gnomAD v4 |
2 | g.47412571del | CA2576960781 | MSH2 | c.792+11del (n.792+11del) c.594+11del (n.594+11del) n.864+11del n.854+11del | dbSNP gnomAD v4 |
2 | g.47412572A>G | CA2658946239 | MSH2 | c.792+12A>G (n.792+12A>G) c.594+12A>G (n.594+12A>G) n.864+12A>G n.854+12A>G | ClinVar gnomAD v4 |
2 | g.47412573T>C | CA2658946240 | MSH2 | c.792+13T>C (n.792+13T>C) c.594+13T>C (n.594+13T>C) n.864+13T>C n.854+13T>C | gnomAD v4 |
2 | g.47412573T>G | CA2573134968 | MSH2 | c.792+13T>G (n.792+13T>G) c.594+13T>G (n.594+13T>G) n.864+13T>G n.854+13T>G | ClinVar dbSNP gnomAD v4 |