Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
9 | g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA | CA1879973147 | ENG | c.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC | |
9 | g.127824710_127824895del | CA658797291 | ENG | c.350_445+90del c.896_991+90del | ClinVar dbSNP |
9 | g.127824834_127824869del | CA2573053101 | ENG | c.387_422del (p.Ala130_Val141del) c.933_968del (p.Ala312_Val323del) | ClinVar dbSNP |
9 | g.127824831_127824840del | CA2695211256 | ENG | c.406_415del (p.Pro136AlafsTer?) c.952_961del (p.Pro318AlafsTer?) | |
9 | g.127824833_127824839del | CA2691808635 | ENG | c.408_414del (p.Leu137AlafsTer?) c.954_960del (p.Leu319AlafsTer?) | gnomAD v4 |
9 | g.127824833C>A | CA374982068 | ENG | c.412G>T (p.Ala138Ser) c.958G>T (p.Ala320Ser) | |
9 | g.127824833C>G | CA374982067 | ENG | c.412G>C (p.Ala138Pro) c.958G>C (p.Ala320Pro) | |
9 | g.127824833C>T | CA374982066 | ENG | c.412G>A (p.Ala138Thr) c.958G>A (p.Ala320Thr) | gnomAD v4 COSMIC COSMIC |
9 | g.127824834C>A | CA467230914 | ENG | c.411G>T (p.Leu137=) c.957G>T (p.Leu319=) | |
9 | g.127824834C>G | CA467230915 | ENG | c.411G>C (p.Leu137=) c.957G>C (p.Leu319=) | |
9 | g.127824834C>T | CA467230916 | ENG | c.411G>A (p.Leu137=) c.957G>A (p.Leu319=) | |
9 | g.127824834_127824840delinsCAGCGGT | CA1879973472 | ENG | c.405_411delinsACCGCTG (p.Leu135=) c.951_957delinsACCGCTG (p.Leu317=) | |
9 | g.127824835A>C | CA374982072 | ENG | c.410T>G (p.Leu137Arg) c.956T>G (p.Leu319Arg) | ClinVar |
9 | g.127824835A>G | CA374982074 | ENG | c.410T>C (p.Leu137Pro) c.956T>C (p.Leu319Pro) | gnomAD v4 |
9 | g.127824835A>T | CA374982077 | ENG | c.410T>A (p.Leu137Gln) c.956T>A (p.Leu319Gln) | |
9 | g.127824838_127824843del | CA1879973475 | ENG | c.405_410del (p.Pro136_Leu137del) c.951_956del (p.Pro318_Leu319del) | ClinVar dbSNP |
9 | g.127824835_127824836insTTGTCTTC | CA2739265076 | ENG | c.409_410insGAAGACAA (p.Leu137ArgfsTer?) c.955_956insGAAGACAA (p.Leu319ArgfsTer?) | ClinVar |
9 | g.127824836G>A | CA467230917 | ENG | c.409C>T (p.Leu137=) c.955C>T (p.Leu319=) | |
9 | g.127824836G>C | CA374982080 | ENG | c.409C>G (p.Leu137Val) c.955C>G (p.Leu319Val) | |
9 | g.127824836G>T | CA374982081 | ENG | c.409C>A (p.Leu137Met) c.955C>A (p.Leu319Met) | |
9 | g.127824836_127824837delinsTTGTCTTCGT | CA2697558067 | ENG | c.408_409delinsACGAAGACAA (p.Leu137ArgfsTer?) c.954_955delinsACGAAGACAA (p.Leu319ArgfsTer?) | ClinVar |
9 | g.127824837C>A | CA467230918 | ENG | c.408G>T (p.Pro136=) c.954G>T (p.Pro318=) | ClinVar dbSNP |
9 | g.127824837C= | CA1879973479 | ENG | c.408G= (p.Pro136=) c.954G= (p.Pro318=) | |
9 | g.127824837C>G | CA467230919 | ENG | c.408G>C (p.Pro136=) c.954G>C (p.Pro318=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824837C>T | CA5252933 | ENG | c.408G>A (p.Pro136=) c.954G>A (p.Pro318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824838G>A | CA374982087 | ENG | c.407C>T (p.Pro136Leu) c.953C>T (p.Pro318Leu) | gnomAD v4 |
9 | g.127824838G>C | CA374982089 | ENG | c.407C>G (p.Pro136Arg) c.953C>G (p.Pro318Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.127824838G= | CA1879973485 | ENG | c.407C= (p.Pro136=) c.953C= (p.Pro318=) | |
9 | g.127824838G>T | CA374982091 | ENG | c.407C>A (p.Pro136Gln) c.953C>A (p.Pro318Gln) | |
9 | g.127824839dup | CA2695211259 | ENG | c.407dup (p.Leu137AlafsTer15) c.953dup (p.Leu319AlafsTer15) | |
9 | g.127824839G>A | CA374982093 | ENG | c.406C>T (p.Pro136Ser) c.952C>T (p.Pro318Ser) | |
9 | g.127824839G>C | CA374982095 | ENG | c.406C>G (p.Pro136Ala) c.952C>G (p.Pro318Ala) | |
9 | g.127824839G= | CA1879973488 | ENG | c.406C= (p.Pro136=) c.952C= (p.Pro318=) | |
9 | g.127824839G>T | CA200313036 | ENG | c.406C>A (p.Pro136Thr) c.952C>A (p.Pro318Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824840T>A | CA467230922 | ENG | c.405A>T (p.Leu135=) c.951A>T (p.Leu317=) | |
9 | g.127824840T>C | CA467230921 | ENG | c.405A>G (p.Leu135=) c.951A>G (p.Leu317=) | |
9 | g.127824840T>G | CA467230920 | ENG | c.405A>C (p.Leu135=) c.951A>C (p.Leu317=) | gnomAD v4 |
9 | g.127824841A>C | CA374982104 | ENG | c.404T>G (p.Leu135Arg) c.950T>G (p.Leu317Arg) | |
9 | g.127824841A>G | CA374982107 | ENG | c.404T>C (p.Leu135Pro) c.950T>C (p.Leu317Pro) | ClinVar |
9 | g.127824841A>T | CA374982101 | ENG | c.404T>A (p.Leu135Gln) c.950T>A (p.Leu317Gln) | ClinVar |
9 | g.127824842G>A | CA467230923 | ENG | c.403C>T (p.Leu135=) c.949C>T (p.Leu317=) | |
9 | g.127824842G>C | CA374982109 | ENG | c.403C>G (p.Leu135Val) c.949C>G (p.Leu317Val) | |
9 | g.127824842G>T | CA374982111 | ENG | c.403C>A (p.Leu135Ile) c.949C>A (p.Leu317Ile) | |
9 | g.127824843C>A | CA374982113 | ENG | c.402G>T (p.Glu134Asp) c.948G>T (p.Glu316Asp) | gnomAD v4 |
9 | g.127824843C>G | CA374982114 | ENG | c.402G>C (p.Glu134Asp) c.948G>C (p.Glu316Asp) | |
9 | g.127824843C>T | CA467230924 | ENG | c.402G>A (p.Glu134=) c.948G>A (p.Glu316=) | |
9 | g.127824844T>A | CA374982115 | ENG | c.401A>T (p.Glu134Val) c.947A>T (p.Glu316Val) | |
9 | g.127824844T>C | CA374982116 | ENG | c.401A>G (p.Glu134Gly) c.947A>G (p.Glu316Gly) | dbSNP |
9 | g.127824844T>G | CA374982117 | ENG | c.401A>C (p.Glu134Ala) c.947A>C (p.Glu316Ala) | |
9 | g.127824845C>A | CA374982119 | ENG | c.400G>T (p.Glu134Ter) c.946G>T (p.Glu316Ter) | gnomAD v4 |
9 | g.127824845C>G | CA374982122 | ENG | c.400G>C (p.Glu134Gln) c.946G>C (p.Glu316Gln) | |
9 | g.127824845C>T | CA374982124 | ENG | c.400G>A (p.Glu134Lys) c.946G>A (p.Glu316Lys) | |
9 | g.127824846C>A | CA467230925 | ENG | c.399G>T (p.Val133=) c.945G>T (p.Val315=) | gnomAD v4 |
9 | g.127824846C>G | CA467230926 | ENG | c.399G>C (p.Val133=) c.945G>C (p.Val315=) | |
9 | g.127824846C>T | CA467230927 | ENG | c.399G>A (p.Val133=) c.945G>A (p.Val315=) | |
9 | g.127824847_127824848del | CA2580079634 | ENG | c.398_399del (p.Val133GlyfsTer18) c.944_945del (p.Val315GlyfsTer18) | ClinVar |
9 | g.127824847A>C | CA374982126 | ENG | c.398T>G (p.Val133Gly) c.944T>G (p.Val315Gly) | |
9 | g.127824847A>G | CA374982127 | ENG | c.398T>C (p.Val133Ala) c.944T>C (p.Val315Ala) | gnomAD v4 |
9 | g.127824847A>T | CA374982131 | ENG | c.398T>A (p.Val133Glu) c.944T>A (p.Val315Glu) | |
9 | g.127824848C>A | CA374982134 | ENG | c.397G>T (p.Val133Leu) c.943G>T (p.Val315Leu) | ClinVar |
9 | g.127824848C= | CA1879973493 | ENG | c.397G= (p.Val133=) c.943G= (p.Val315=) | |
9 | g.127824848C>G | CA374982132 | ENG | c.397G>C (p.Val133Leu) c.943G>C (p.Val315Leu) | gnomAD v4 |
9 | g.127824848C>T | CA5252934 | ENG | c.397G>A (p.Val133Met) c.943G>A (p.Val315Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127824849G>A | CA200313048 | ENG | c.396C>T (p.Phe132=) c.942C>T (p.Phe314=) | ClinVar dbSNP gnomAD v4 |
9 | g.127824849G>C | CA374982138 | ENG | c.396C>G (p.Phe132Leu) c.942C>G (p.Phe314Leu) | |
9 | g.127824849G= | CA1879973500 | ENG | c.396C= (p.Phe132=) c.942C= (p.Phe314=) | |
9 | g.127824849G>T | CA5252935 | ENG | c.396C>A (p.Phe132Leu) c.942C>A (p.Phe314Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824850A>C | CA374982144 | ENG | c.395T>G (p.Phe132Cys) c.941T>G (p.Phe314Cys) | |
9 | g.127824850A>G | CA374982146 | ENG | c.395T>C (p.Phe132Ser) c.941T>C (p.Phe314Ser) | |
9 | g.127824850A>T | CA374982148 | ENG | c.395T>A (p.Phe132Tyr) c.941T>A (p.Phe314Tyr) | |
9 | g.127824851A>C | CA374982151 | ENG | c.394T>G (p.Phe132Val) c.940T>G (p.Phe314Val) | |
9 | g.127824851A>G | CA374982154 | ENG | c.394T>C (p.Phe132Leu) c.940T>C (p.Phe314Leu) | |
9 | g.127824851A>T | CA374982157 | ENG | c.394T>A (p.Phe132Ile) c.940T>A (p.Phe314Ile) | |
9 | g.127824852G>A | CA467230928 | ENG | c.393C>T (p.Ser131=) c.939C>T (p.Ser313=) | |
9 | g.127824852G>C | CA467230929 | ENG | c.393C>G (p.Ser131=) c.939C>G (p.Ser313=) | |
9 | g.127824852G>T | CA467230930 | ENG | c.393C>A (p.Ser131=) c.939C>A (p.Ser313=) | |
9 | g.127824853G>A | CA374982160 | ENG | c.392C>T (p.Ser131Phe) c.938C>T (p.Ser313Phe) | gnomAD v4 |
9 | g.127824853G>C | CA374982163 | ENG | c.392C>G (p.Ser131Cys) c.938C>G (p.Ser313Cys) | |
9 | g.127824853G>T | CA374982166 | ENG | c.392C>A (p.Ser131Tyr) c.938C>A (p.Ser313Tyr) | |
9 | g.127824854A>C | CA374982170 | ENG | c.391T>G (p.Ser131Ala) c.937T>G (p.Ser313Ala) | |
9 | g.127824854A>G | CA374982173 | ENG | c.391T>C (p.Ser131Pro) c.937T>C (p.Ser313Pro) | |
9 | g.127824854A>T | CA374982178 | ENG | c.391T>A (p.Ser131Thr) c.937T>A (p.Ser313Thr) | |
9 | g.127824855T>A | CA467230931 | ENG | c.390A>T (p.Ala130=) c.936A>T (p.Ala312=) | |
9 | g.127824855T>C | CA467230932 | ENG | c.390A>G (p.Ala130=) c.936A>G (p.Ala312=) | |
9 | g.127824855T>G | CA467230933 | ENG | c.390A>C (p.Ala130=) c.936A>C (p.Ala312=) | |
9 | g.127824856G>A | CA5252936 | ENG | c.389C>T (p.Ala130Val) c.935C>T (p.Ala312Val) | dbSNP ExAC gnomAD v2 |
9 | g.127824856G>C | CA374982180 | ENG | c.389C>G (p.Ala130Gly) c.935C>G (p.Ala312Gly) | |
9 | g.127824856G= | CA1879973508 | ENG | c.389C= (p.Ala130=) c.935C= (p.Ala312=) | |
9 | g.127824856G>T | CA374982179 | ENG | c.389C>A (p.Ala130Glu) c.935C>A (p.Ala312Glu) | |
9 | g.127824857C>A | CA374982183 | ENG | c.388G>T (p.Ala130Ser) c.934G>T (p.Ala312Ser) | |
9 | g.127824857C>G | CA374982186 | ENG | c.388G>C (p.Ala130Pro) c.934G>C (p.Ala312Pro) | |
9 | g.127824857C>T | CA374982191 | ENG | c.388G>A (p.Ala130Thr) c.934G>A (p.Ala312Thr) | gnomAD v4 |
9 | g.127824858del | CA1139533027 | ENG | c.388del (p.Ala130HisfsTer?) c.934del (p.Ala312HisfsTer?) | ClinVar dbSNP |
9 | g.127824858C>A | CA5252937 | ENG | c.387G>T (p.Val129=) c.933G>T (p.Val311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824858C= | CA1879973515 | ENG | c.387G= (p.Val129=) c.933G= (p.Val311=) | |
9 | g.127824858C>G | CA467230934 | ENG | c.387G>C (p.Val129=) c.933G>C (p.Val311=) | gnomAD v4 |
9 | g.127824858C>T | CA467230935 | ENG | c.387G>A (p.Val129=) c.933G>A (p.Val311=) | ClinVar dbSNP gnomAD v4 |
9 | g.127824859A>C | CA374982196 | ENG | c.386T>G (p.Val129Gly) c.932T>G (p.Val311Gly) | ClinVar |
9 | g.127824859A>G | CA374982204 | ENG | c.386T>C (p.Val129Ala) c.932T>C (p.Val311Ala) | |
9 | g.127824859A>T | CA374982207 | ENG | c.386T>A (p.Val129Glu) c.932T>A (p.Val311Glu) | |
9 | g.127824860C>A | CA374982213 | ENG | c.385G>T (p.Val129Leu) c.931G>T (p.Val311Leu) | |
9 | g.127824860C>G | CA374982225 | ENG | c.385G>C (p.Val129Leu) c.931G>C (p.Val311Leu) | |
9 | g.127824860C>T | CA374982222 | ENG | c.385G>A (p.Val129Met) c.931G>A (p.Val311Met) | |
9 | g.127824861A>C | CA374982229 | ENG | c.384T>G (p.Ile128Met) c.930T>G (p.Ile310Met) | |
9 | g.127824861A>G | CA467230937 | ENG | c.384T>C (p.Ile128=) c.930T>C (p.Ile310=) | gnomAD v4 |
9 | g.127824861A>T | CA467230936 | ENG | c.384T>A (p.Ile128=) c.930T>A (p.Ile310=) | |
9 | g.127824862A= | CA1879973520 | ENG | c.383T= (p.Ile128=) c.929T= (p.Ile310=) | |
9 | g.127824862A>C | CA374982232 | ENG | c.383T>G (p.Ile128Ser) c.929T>G (p.Ile310Ser) | |
9 | g.127824862A>G | CA374982235 | ENG | c.383T>C (p.Ile128Thr) c.929T>C (p.Ile310Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824862A>T | CA374982238 | ENG | c.383T>A (p.Ile128Asn) c.929T>A (p.Ile310Asn) | |
9 | g.127824862_127824882del | CA2695211262 | ENG | c.363_383del (p.Arg122_Ile128del) c.909_929del (p.Arg304_Ile310del) | |
9 | g.127824863T>A | CA374982239 | ENG | c.382A>T (p.Ile128Phe) c.928A>T (p.Ile310Phe) | |
9 | g.127824863T>C | CA374982243 | ENG | c.382A>G (p.Ile128Val) c.928A>G (p.Ile310Val) | |
9 | g.127824863T>G | CA374982241 | ENG | c.382A>C (p.Ile128Leu) c.928A>C (p.Ile310Leu) | |
9 | g.127824864G>A | CA467230938 | ENG | c.381C>T (p.Ser127=) c.927C>T (p.Ser309=) | dbSNP |
9 | g.127824864G>C | CA374982247 | ENG | c.381C>G (p.Ser127Arg) c.927C>G (p.Ser309Arg) | |
9 | g.127824864G= | CA1879973521 | ENG | c.381C= (p.Ser127=) c.927C= (p.Ser309=) | |
9 | g.127824864G>T | CA374982254 | ENG | c.381C>A (p.Ser127Arg) c.927C>A (p.Ser309Arg) | |
9 | g.127824866_127824869dup | CA2580079635 | ENG | c.378_381dup (p.Ile128GlnfsTer25) c.924_927dup (p.Ile310GlnfsTer25) | ClinVar |
9 | g.127824865C>A | CA374982258 | ENG | c.380G>T (p.Ser127Ile) c.926G>T (p.Ser309Ile) | |
9 | g.127824865C= | CA1879973524 | ENG | c.380G= (p.Ser127=) c.926G= (p.Ser309=) | |
9 | g.127824865C>G | CA374982260 | ENG | c.380G>C (p.Ser127Thr) c.926G>C (p.Ser309Thr) | |
9 | g.127824865C>T | CA374982264 | ENG | c.380G>A (p.Ser127Asn) c.926G>A (p.Ser309Asn) | |
9 | g.127824866T>A | CA374982267 | ENG | c.379A>T (p.Ser127Cys) c.925A>T (p.Ser309Cys) | |
9 | g.127824866T>C | CA374982268 | ENG | c.379A>G (p.Ser127Gly) c.925A>G (p.Ser309Gly) | |
9 | g.127824866T>G | CA374982271 | ENG | c.379A>C (p.Ser127Arg) c.925A>C (p.Ser309Arg) | |
9 | g.127824866_127824868dup | CA1879973525 | ENG | c.377_379dup (p.Ala126_Ser127insThr) c.923_925dup (p.Ala308_Ser309insThr) | ClinVar dbSNP |
9 | g.127824867G>A | CA467230939 | ENG | c.378C>T (p.Ala126=) c.924C>T (p.Ala308=) | |
9 | g.127824867G>C | CA467230940 | ENG | c.378C>G (p.Ala126=) c.924C>G (p.Ala308=) | |
9 | g.127824867G>T | CA467230941 | ENG | c.378C>A (p.Ala126=) c.924C>A (p.Ala308=) | |
9 | g.127824868G>A | CA374982274 | ENG | c.377C>T (p.Ala126Val) c.923C>T (p.Ala308Val) | dbSNP |
9 | g.127824868G>C | CA374982276 | ENG | c.377C>G (p.Ala126Gly) c.923C>G (p.Ala308Gly) | |
9 | g.127824868G= | CA1879973531 | ENG | c.377C= (p.Ala126=) c.923C= (p.Ala308=) | |
9 | g.127824868G>T | CA374982277 | ENG | c.377C>A (p.Ala126Asp) c.923C>A (p.Ala308Asp) | ClinVar dbSNP |
9 | g.127824869C>A | CA374982283 | ENG | c.376G>T (p.Ala126Ser) c.922G>T (p.Ala308Ser) | gnomAD v4 |
9 | g.127824869C>G | CA374982282 | ENG | c.376G>C (p.Ala126Pro) c.922G>C (p.Ala308Pro) | |
9 | g.127824869C>T | CA374982280 | ENG | c.376G>A (p.Ala126Thr) c.922G>A (p.Ala308Thr) | COSMIC COSMIC |
9 | g.127824869dup | CA2573143967 | ENG | c.376dup (p.Ala126GlyfsTer26) c.922dup (p.Ala308GlyfsTer26) | ClinVar dbSNP |
9 | g.127824870A= | CA1879973534 | ENG | c.375T= (p.Asn125=) c.921T= (p.Asn307=) | |
9 | g.127824870A>C | CA374982285 | ENG | c.375T>G (p.Asn125Lys) c.921T>G (p.Asn307Lys) | |
9 | g.127824870A>G | CA467230942 | ENG | c.375T>C (p.Asn125=) c.921T>C (p.Asn307=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824870A>T | CA374982288 | ENG | c.375T>A (p.Asn125Lys) c.921T>A (p.Asn307Lys) | |
9 | g.127824871T>A | CA374982291 | ENG | c.374A>T (p.Asn125Ile) c.920A>T (p.Asn307Ile) | ClinVar |
9 | g.127824871T>C | CA5252938 | ENG | c.374A>G (p.Asn125Ser) c.920A>G (p.Asn307Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824871T>G | CA374982294 | ENG | c.374A>C (p.Asn125Thr) c.920A>C (p.Asn307Thr) | |
9 | g.127824871T= | CA1879973543 | ENG | c.374A= (p.Asn125=) c.920A= (p.Asn307=) | |
9 | g.127824871_127824872del | CA2580079636 | ENG | c.373_374del (p.Asn125CysfsTer26) c.919_920del (p.Asn307CysfsTer26) | ClinVar |
9 | g.127824872dup | CA658797292 | ENG | c.374dup (p.Asn125LysfsTer27) c.920dup (p.Asn307LysfsTer27) | ClinVar dbSNP |
9 | g.127824872_127824910del | CA913184987 | ENG | c.336_374del (p.Thr113_Asn125del) c.882_920del (p.Thr295_Asn307del) | ClinVar dbSNP |
9 | g.127824872T>A | CA374982302 | ENG | c.373A>T (p.Asn125Tyr) c.919A>T (p.Asn307Tyr) | |
9 | g.127824872T>C | CA374982307 | ENG | c.373A>G (p.Asn125Asp) c.919A>G (p.Asn307Asp) | ClinVar dbSNP gnomAD v4 |
9 | g.127824872T>G | CA374982303 | ENG | c.373A>C (p.Asn125His) c.919A>C (p.Asn307His) | gnomAD v4 |
9 | g.127824872T= | CA1879973550 | ENG | c.373A= (p.Asn125=) c.919A= (p.Asn307=) | |
9 | g.127824872_127824880delinsTGAGCATCC | CA1879973548 | ENG | c.365_373delinsGGATGCTCA (p.Arg122=) c.911_919delinsGGATGCTCA (p.Arg304=) | |
9 | g.127824873G>A | CA467230945 | ENG | c.372C>T (p.Leu124=) c.918C>T (p.Leu306=) | gnomAD v4 |
9 | g.127824873G>C | CA467230946 | ENG | c.372C>G (p.Leu124=) c.918C>G (p.Leu306=) | |
9 | g.127824873G>T | CA467230947 | ENG | c.372C>A (p.Leu124=) c.918C>A (p.Leu306=) | COSMIC COSMIC |
9 | g.127824874_127824875del | CA2580079637 | ENG | c.371_372del (p.Leu124GlnfsTer27) c.917_918del (p.Leu306GlnfsTer27) | ClinVar |
9 | g.127824874_127824881del | CA891842558 | ENG | c.365_372del (p.Arg122GlnfsTer27) c.911_918del (p.Arg304GlnfsTer27) | ClinVar dbSNP |
9 | g.127824874A>C | CA374982311 | ENG | c.371T>G (p.Leu124Arg) c.917T>G (p.Leu306Arg) | |
9 | g.127824874A>G | CA374982314 | ENG | c.371T>C (p.Leu124Pro) c.917T>C (p.Leu306Pro) | ClinVar |
9 | g.127824874A>T | CA374982315 | ENG | c.371T>A (p.Leu124His) c.917T>A (p.Leu306His) | |
9 | g.127824875del | CA2580079638 | ENG | c.370del (p.Leu124SerfsTer?) c.916del (p.Leu306SerfsTer?) | ClinVar |
9 | g.127824875G>A | CA374982318 | ENG | c.370C>T (p.Leu124Phe) c.916C>T (p.Leu306Phe) | |
9 | g.127824875G>C | CA374982322 | ENG | c.370C>G (p.Leu124Val) c.916C>G (p.Leu306Val) | |
9 | g.127824875G>T | CA374982325 | ENG | c.370C>A (p.Leu124Ile) c.916C>A (p.Leu306Ile) | COSMIC COSMIC |
9 | g.127824876C>A | CA374982334 | ENG | c.369G>T (p.Met123Ile) c.915G>T (p.Met305Ile) | |
9 | g.127824876C>G | CA374982331 | ENG | c.369G>C (p.Met123Ile) c.915G>C (p.Met305Ile) | |
9 | g.127824876C>T | CA374982329 | ENG | c.369G>A (p.Met123Ile) c.915G>A (p.Met305Ile) | |
9 | g.127824877A>C | CA374982339 | ENG | c.368T>G (p.Met123Arg) c.914T>G (p.Met305Arg) | |
9 | g.127824877A>G | CA374982341 | ENG | c.368T>C (p.Met123Thr) c.914T>C (p.Met305Thr) | |
9 | g.127824877A>T | CA374982344 | ENG | c.368T>A (p.Met123Lys) c.914T>A (p.Met305Lys) | |
9 | g.127824878T>A | CA374982347 | ENG | c.367A>T (p.Met123Leu) c.913A>T (p.Met305Leu) | |
9 | g.127824878T>C | CA374982349 | ENG | c.367A>G (p.Met123Val) c.913A>G (p.Met305Val) | |
9 | g.127824878T>G | CA374982353 | ENG | c.367A>C (p.Met123Leu) c.913A>C (p.Met305Leu) | |
9 | g.127824879C>A | CA467230948 | ENG | c.366G>T (p.Arg122=) c.912G>T (p.Arg304=) | |
9 | g.127824879C= | CA1879973560 | ENG | c.366G= (p.Arg122=) c.912G= (p.Arg304=) | |
9 | g.127824879C>G | CA467230949 | ENG | c.366G>C (p.Arg122=) c.912G>C (p.Arg304=) | |
9 | g.127824879C>T | CA467230950 | ENG | c.366G>A (p.Arg122=) c.912G>A (p.Arg304=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824880C>A | CA374982356 | ENG | c.365G>T (p.Arg122Leu) c.911G>T (p.Arg304Leu) | |
9 | g.127824880C= | CA1879973568 | ENG | c.365G= (p.Arg122=) c.911G= (p.Arg304=) | |
9 | g.127824880C>G | CA374982363 | ENG | c.365G>C (p.Arg122Pro) c.911G>C (p.Arg304Pro) | |
9 | g.127824880C>T | CA5252939 | ENG | c.365G>A (p.Arg122Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824881G>A | CA200313055 | ENG | c.364C>T (p.Arg122Trp) c.910C>T (p.Arg304Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824881G>C | CA5252940 | ENG | c.364C>G (p.Arg122Gly) c.910C>G (p.Arg304Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824881G= | CA1879973584 | ENG | c.364C= (p.Arg122=) c.910C= (p.Arg304=) | |
9 | g.127824881G>T | CA467474558 | ENG | c.364C>A (p.Arg122=) c.910C>A (p.Arg304=) | |
9 | g.127824883dup | CA374982369 | ENG | c.364dup (p.Arg122ProfsTer30) c.910dup (p.Arg304ProfsTer30) | dbSNP |
9 | g.127824883del | CA2580079639 | ENG | c.364del (p.Arg122GlyfsTer?) c.910del (p.Arg304GlyfsTer?) | ClinVar |
9 | g.127824882G>A | CA5252941 | ENG | c.363C>T (p.Ala121=) c.909C>T (p.Ala303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824882G>C | CA467474560 | ENG | c.363C>G (p.Ala121=) c.909C>G (p.Ala303=) | |
9 | g.127824882G= | CA1879973599 | ENG | c.363C= (p.Ala121=) c.909C= (p.Ala303=) | |
9 | g.127824882G>T | CA467474561 | ENG | c.363C>A (p.Ala121=) c.909C>A (p.Ala303=) | dbSNP |
9 | g.127824883G>A | CA374982378 | ENG | c.362C>T (p.Ala121Val) c.908C>T (p.Ala303Val) | COSMIC COSMIC |
9 | g.127824883G>C | CA374982380 | ENG | c.362C>G (p.Ala121Gly) c.908C>G (p.Ala303Gly) | |
9 | g.127824883G>T | CA374982383 | ENG | c.362C>A (p.Ala121Asp) c.908C>A (p.Ala303Asp) | ClinVar |
9 | g.127824884C>A | CA374982386 | ENG | c.361G>T (p.Ala121Ser) c.907G>T (p.Ala303Ser) | |
9 | g.127824884C= | CA1879973605 | ENG | c.361G= (p.Ala121=) c.907G= (p.Ala303=) | |
9 | g.127824884C>G | CA5252942 | ENG | c.361G>C (p.Ala121Pro) c.907G>C (p.Ala303Pro) | dbSNP ExAC gnomAD v2 |
9 | g.127824884C>T | CA374982392 | ENG | c.361G>A (p.Ala121Thr) c.907G>A (p.Ala303Thr) | gnomAD v4 |
9 | g.127824885C>A | CA374982395 | ENG | c.360G>T (p.Glu120Asp) c.906G>T (p.Glu302Asp) | |
9 | g.127824885C>G | CA374982397 | ENG | c.360G>C (p.Glu120Asp) c.906G>C (p.Glu302Asp) | |
9 | g.127824885C>T | CA467474565 | ENG | c.360G>A (p.Glu120=) c.906G>A (p.Glu302=) | ClinVar |
9 | g.127824886T>A | CA374982414 | ENG | c.359A>T (p.Glu120Val) c.905A>T (p.Glu302Val) | |
9 | g.127824886T>C | CA5252943 | ENG | c.359A>G (p.Glu120Gly) c.905A>G (p.Glu302Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824886T>G | CA374982411 | ENG | c.359A>C (p.Glu120Ala) c.905A>C (p.Glu302Ala) | |
9 | g.127824886T= | CA1879973610 | ENG | c.359A= (p.Glu120=) c.905A= (p.Glu302=) | |
9 | g.127824887C>A | CA16612407 | ENG | c.358G>T (p.Glu120Ter) c.904G>T (p.Glu302Ter) | ClinVar dbSNP |
9 | g.127824887C= | CA1879973617 | ENG | c.358G= (p.Glu120=) c.904G= (p.Glu302=) | |
9 | g.127824887C>G | CA374982420 | ENG | c.358G>C (p.Glu120Gln) c.904G>C (p.Glu302Gln) | |
9 | g.127824887C>T | CA374982422 | ENG | c.358G>A (p.Glu120Lys) c.904G>A (p.Glu302Lys) | |
9 | g.127824891dup | CA658656033 | ENG | c.358dup (p.Glu120GlyfsTer?) c.904dup (p.Glu302GlyfsTer?) | ClinVar dbSNP |
9 | g.127824890_127824891dup | CA2580617564 | ENG | c.357_358dup (p.Glu120GlyfsTer?) c.903_904dup (p.Glu302GlyfsTer?) | ClinVar |
9 | g.127824891del | CA2691808696 | ENG | c.358del (p.Glu120ArgfsTer?) c.904del (p.Glu302ArgfsTer?) | gnomAD v4 |
9 | g.127824888C>A | CA467474576 | ENG | c.357G>T (p.Gly119=) c.903G>T (p.Gly301=) | |
9 | g.127824888C>G | CA467474575 | ENG | c.357G>C (p.Gly119=) c.903G>C (p.Gly301=) | |
9 | g.127824888C>T | CA467474574 | ENG | c.357G>A (p.Gly119=) c.903G>A (p.Gly301=) | |
9 | g.127824889C>A | CA374982425 | ENG | c.356G>T (p.Gly119Val) c.902G>T (p.Gly301Val) | |
9 | g.127824889C= | CA1879973622 | ENG | c.356G= (p.Gly119=) c.902G= (p.Gly301=) | |
9 | g.127824889C>G | CA374982428 | ENG | c.356G>C (p.Gly119Ala) c.902G>C (p.Gly301Ala) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824889C>T | CA374982432 | ENG | c.356G>A (p.Gly119Glu) c.902G>A (p.Gly301Glu) | |
9 | g.127824889_127824892delinsCCCA | CA1879973623 | ENG | c.353_356delinsTGGG (p.Leu118=) c.899_902delinsTGGG (p.Leu300=) | |
9 | g.127824890C>A | CA374982435 | ENG | c.355G>T (p.Gly119Trp) c.901G>T (p.Gly301Trp) | |
9 | g.127824890C= | CA1879973630 | ENG | c.355G= (p.Gly119=) c.901G= (p.Gly301=) | |
9 | g.127824890C>G | CA374982438 | ENG | c.355G>C (p.Gly119Arg) c.901G>C (p.Gly301Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.127824890C>T | CA374982440 | ENG | c.355G>A (p.Gly119Arg) c.901G>A (p.Gly301Arg) | gnomAD v4 |
9 | g.127824890_127824892delinsG | CA1139661208 | ENG | c.353_355delinsC (p.Leu118ProfsTer?) c.899_901delinsC (p.Leu300ProfsTer?) | ClinVar dbSNP |
9 | g.127824891C>A | CA5252945 | ENG | c.354G>T (p.Leu118=) c.900G>T (p.Leu300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824891C= | CA1879973645 | ENG | c.354G= (p.Leu118=) c.900G= (p.Leu300=) | |
9 | g.127824891C>G | CA467474578 | ENG | c.354G>C (p.Leu118=) c.900G>C (p.Leu300=) | |
9 | g.127824891C>T | CA5252944 | ENG | c.354G>A (p.Leu118=) c.900G>A (p.Leu300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824892A= | CA1879973653 | ENG | c.353T= (p.Leu118=) c.899T= (p.Leu300=) | |
9 | g.127824892A>C | CA374982449 | ENG | c.353T>G (p.Leu118Arg) c.899T>G (p.Leu300Arg) | dbSNP |
9 | g.127824892A>G | CA374982452 | ENG | c.353T>C (p.Leu118Pro) c.899T>C (p.Leu300Pro) | ClinVar dbSNP gnomAD v4 |
9 | g.127824892A>T | CA374982455 | ENG | c.353T>A (p.Leu118Gln) c.899T>A (p.Leu300Gln) | |
9 | g.127824893G>A | CA467474580 | ENG | c.352C>T (p.Leu118=) c.898C>T (p.Leu300=) | COSMIC COSMIC |
9 | g.127824893G>C | CA374982459 | ENG | c.352C>G (p.Leu118Val) c.898C>G (p.Leu300Val) | |
9 | g.127824893G>T | CA374982463 | ENG | c.352C>A (p.Leu118Met) c.898C>A (p.Leu300Met) | |
9 | g.127824894G>A | CA467474582 | ENG | c.351C>T (p.Leu117=) c.897C>T (p.Leu299=) | |
9 | g.127824894G>C | CA467474586 | ENG | c.351C>G (p.Leu117=) c.897C>G (p.Leu299=) | |
9 | g.127824894G>T | CA467474583 | ENG | c.351C>A (p.Leu117=) c.897C>A (p.Leu299=) | |
9 | g.127824895A= | CA1879973663 | ENG | c.350T= (p.Leu117=) c.896T= (p.Leu299=) | |
9 | g.127824895A>C | CA374982466 | ENG | c.350T>G (p.Leu117Arg) c.896T>G (p.Leu299Arg) | ClinVar dbSNP |
9 | g.127824895A>G | CA374982467 | ENG | c.350T>C (p.Leu117Pro) c.896T>C (p.Leu299Pro) | gnomAD v4 |
9 | g.127824895A>T | CA374982470 | ENG | c.350T>A (p.Leu117His) c.896T>A (p.Leu299His) | |
9 | g.127824895_127824896delinsAG | CA1879973661 | ENG | c.349_350delinsCT (p.Leu117=) c.895_896delinsCT (p.Leu299=) | |
9 | g.127824896G>A | CA374982477 | ENG | c.349C>T (p.Leu117Phe) c.895C>T (p.Leu299Phe) | |
9 | g.127824896G>C | CA374982480 | ENG | c.349C>G (p.Leu117Val) c.895C>G (p.Leu299Val) | ClinVar |
9 | g.127824896G>T | CA374982490 | ENG | c.349C>A (p.Leu117Ile) c.895C>A (p.Leu299Ile) | |
9 | g.127824897del | CA16618748 | ENG | c.349del (p.Leu117SerfsTer?) c.895del (p.Leu299SerfsTer?) | ClinVar dbSNP |
9 | g.127824897G>A | CA467474590 | ENG | c.348C>T (p.Gly116=) c.894C>T (p.Gly298=) | |
9 | g.127824897G>C | CA467474591 | ENG | c.348C>G (p.Gly116=) c.894C>G (p.Gly298=) | |
9 | g.127824897G>T | CA467474593 | ENG | c.348C>A (p.Gly116=) c.894C>A (p.Gly298=) | |
9 | g.127824898C>A | CA374982493 | ENG | c.347G>T (p.Gly116Val) c.893G>T (p.Gly298Val) | |
9 | g.127824898C>G | CA374982496 | ENG | c.347G>C (p.Gly116Ala) c.893G>C (p.Gly298Ala) | |
9 | g.127824898C>T | CA374982499 | ENG | c.347G>A (p.Gly116Asp) c.893G>A (p.Gly298Asp) | |
9 | g.127824899del | CA2695211265 | ENG | c.347del (p.Gly116AlafsTer?) c.893del (p.Gly298AlafsTer?) | |
9 | g.127824899C>A | CA374982502 | ENG | c.346G>T (p.Gly116Cys) c.892G>T (p.Gly298Cys) | |
9 | g.127824899C>G | CA374982503 | ENG | c.346G>C (p.Gly116Arg) c.892G>C (p.Gly298Arg) | |
9 | g.127824899C>T | CA374982504 | ENG | c.346G>A (p.Gly116Ser) c.892G>A (p.Gly298Ser) | COSMIC COSMIC |
9 | g.127824900T>A | CA374982508 | ENG | c.345A>T (p.Gln115His) c.891A>T (p.Gln297His) | |
9 | g.127824900T>C | CA5252946 | ENG | c.345A>G (p.Gln115=) c.891A>G (p.Gln297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824900T>G | CA374982509 | ENG | c.345A>C (p.Gln115His) c.891A>C (p.Gln297His) | |
9 | g.127824900T= | CA1879973671 | ENG | c.345A= (p.Gln115=) c.891A= (p.Gln297=) | |
9 | g.127824901T>A | CA374982512 | ENG | c.344A>T (p.Gln115Leu) c.890A>T (p.Gln297Leu) | |
9 | g.127824901T>C | CA374982514 | ENG | c.344A>G (p.Gln115Arg) c.890A>G (p.Gln297Arg) | |
9 | g.127824901T>G | CA5252947 | ENG | c.344A>C (p.Gln115Pro) c.890A>C (p.Gln297Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824901T= | CA1879973679 | ENG | c.344A= (p.Gln115=) c.890A= (p.Gln297=) | |
9 | g.127824902G>A | CA374982518 | ENG | c.343C>T (p.Gln115Ter) c.889C>T (p.Gln297Ter) | |
9 | g.127824902G>C | CA374982520 | ENG | c.343C>G (p.Gln115Glu) c.889C>G (p.Gln297Glu) | ClinVar dbSNP gnomAD v4 |
9 | g.127824902G= | CA1879973686 | ENG | c.343C= (p.Gln115=) c.889C= (p.Gln297=) | |
9 | g.127824902G>T | CA374982522 | ENG | c.343C>A (p.Gln115Lys) c.889C>A (p.Gln297Lys) | |
9 | g.127824903A>C | CA467474606 | ENG | c.342T>G (p.Pro114=) c.888T>G (p.Pro296=) | |
9 | g.127824903A>G | CA467474607 | ENG | c.342T>C (p.Pro114=) c.888T>C (p.Pro296=) | |
9 | g.127824903A>T | CA467474604 | ENG | c.342T>A (p.Pro114=) c.888T>A (p.Pro296=) | |
9 | g.127824904G>A | CA374982526 | ENG | c.341C>T (p.Pro114Leu) c.887C>T (p.Pro296Leu) | |
9 | g.127824904G>C | CA374982528 | ENG | c.341C>G (p.Pro114Arg) c.887C>G (p.Pro296Arg) | |
9 | g.127824904G>T | CA374982529 | ENG | c.341C>A (p.Pro114His) c.887C>A (p.Pro296His) | |
9 | g.127824905del | CA2695211267 | ENG | c.341del (p.Pro114LeufsTer?) c.887del (p.Pro296LeufsTer?) | |
9 | g.127824905G>A | CA374982531 | ENG | c.340C>T (p.Pro114Ser) c.886C>T (p.Pro296Ser) | gnomAD v4 |
9 | g.127824905G>C | CA374982533 | ENG | c.340C>G (p.Pro114Ala) c.886C>G (p.Pro296Ala) | |
9 | g.127824905G>T | CA374982535 | ENG | c.340C>A (p.Pro114Thr) c.886C>A (p.Pro296Thr) | |
9 | g.127824909_127824910del | CA2580616313 | ENG | c.339_340del (p.Pro114SerfsTer?) c.885_886del (p.Pro296SerfsTer?) | ClinVar gnomAD v4 |
9 | g.127824906T>A | CA467474609 | ENG | c.339A>T (p.Thr113=) c.885A>T (p.Thr295=) | |
9 | g.127824906T>C | CA467474610 | ENG | c.339A>G (p.Thr113=) c.885A>G (p.Thr295=) | |
9 | g.127824906T>G | CA467474611 | ENG | c.339A>C (p.Thr113=) c.885A>C (p.Thr295=) | |
9 | g.127824907G>A | CA374982537 | ENG | c.338C>T (p.Thr113Ile) c.884C>T (p.Thr295Ile) | ClinVar dbSNP |
9 | g.127824907G>C | CA200313075 | ENG | c.338C>G (p.Thr113Arg) c.884C>G (p.Thr295Arg) | dbSNP |
9 | g.127824907G= | CA1879973698 | ENG | c.338C= (p.Thr113=) c.884C= (p.Thr295=) | |
9 | g.127824907G>T | CA374982540 | ENG | c.338C>A (p.Thr113Lys) c.884C>A (p.Thr295Lys) | |
9 | g.127824908T>A | CA374982542 | ENG | c.337A>T (p.Thr113Ser) c.883A>T (p.Thr295Ser) | |
9 | g.127824908T>C | CA374982545 | ENG | c.337A>G (p.Thr113Ala) c.883A>G (p.Thr295Ala) | |
9 | g.127824908T>G | CA374982544 | ENG | c.337A>C (p.Thr113Pro) c.883A>C (p.Thr295Pro) | |
9 | g.127824910_127824921del | CA2573143970 | ENG | c.326_337del (p.Lys109_Asp112del) c.872_883del (p.Lys291_Asp294del) | ClinVar dbSNP |
9 | g.127824909G>A | CA467474622 | ENG | c.336C>T (p.Asp112=) c.882C>T (p.Asp294=) | |
9 | g.127824909G>C | CA374982548 | ENG | c.336C>G (p.Asp112Glu) c.882C>G (p.Asp294Glu) | |
9 | g.127824909G>T | CA374982550 | ENG | c.336C>A (p.Asp112Glu) c.882C>A (p.Asp294Glu) | |
9 | g.127824909_127824911delinsGTC | CA1879973708 | ENG | c.334_336delinsGAC (p.Asp112=) c.880_882delinsGAC (p.Asp294=) | |
9 | g.127824910T>A | CA374982553 | ENG | c.335A>T (p.Asp112Val) c.881A>T (p.Asp294Val) | |
9 | g.127824910T>C | CA374982554 | ENG | c.335A>G (p.Asp112Gly) c.881A>G (p.Asp294Gly) | |
9 | g.127824910T>G | CA374982557 | ENG | c.335A>C (p.Asp112Ala) c.881A>C (p.Asp294Ala) | gnomAD v4 |
9 | g.127824911_127824912del | CA10604865 | ENG | c.334_335del (p.Asp112HisfsTer?) c.880_881del (p.Asp294HisfsTer?) | ClinVar dbSNP |
9 | g.127824911C>A | CA374982560 | ENG | c.334G>T (p.Asp112Tyr) c.880G>T (p.Asp294Tyr) | |
9 | g.127824911C>G | CA374982562 | ENG | c.334G>C (p.Asp112His) c.880G>C (p.Asp294His) | |
9 | g.127824911C>T | CA374982566 | ENG | c.334G>A (p.Asp112Asn) c.880G>A (p.Asp294Asn) | |
9 | g.127824912T>A | CA467474628 | ENG | c.333A>T (p.Pro111=) c.879A>T (p.Pro293=) | |
9 | g.127824912T>C | CA467474629 | ENG | c.333A>G (p.Pro111=) c.879A>G (p.Pro293=) | |
9 | g.127824912T>G | CA467474631 | ENG | c.333A>C (p.Pro111=) c.879A>C (p.Pro293=) | |
9 | g.127824913G>A | CA374982570 | ENG | c.332C>T (p.Pro111Leu) c.878C>T (p.Pro293Leu) | |
9 | g.127824913G>C | CA374982573 | ENG | c.332C>G (p.Pro111Arg) c.878C>G (p.Pro293Arg) | |
9 | g.127824913G>T | CA374982568 | ENG | c.332C>A (p.Pro111Gln) c.878C>A (p.Pro293Gln) | |
9 | g.127824915dup | CA2695211270 | ENG | c.332dup (p.Asp112ArgfsTer?) c.878dup (p.Asp294ArgfsTer?) | |
9 | g.127824915del | CA2580079640 | ENG | c.332del (p.Pro111GlnfsTer?) c.878del (p.Pro293GlnfsTer?) | ClinVar |
9 | g.127824914G>A | CA374982576 | ENG | c.331C>T (p.Pro111Ser) c.877C>T (p.Pro293Ser) | gnomAD v4 |
9 | g.127824914G>C | CA374982578 | ENG | c.331C>G (p.Pro111Ala) c.877C>G (p.Pro293Ala) | |
9 | g.127824914G>T | CA374982580 | ENG | c.331C>A (p.Pro111Thr) c.877C>A (p.Pro293Thr) | |
9 | g.127824915G>A | CA467474634 | ENG | c.330C>T (p.Leu110=) c.876C>T (p.Leu292=) | |
9 | g.127824915G>C | CA467474637 | ENG | c.330C>G (p.Leu110=) c.876C>G (p.Leu292=) | |
9 | g.127824915G>T | CA467474636 | ENG | c.330C>A (p.Leu110=) c.876C>A (p.Leu292=) | |
9 | g.127824916A>C | CA374982583 | ENG | c.329T>G (p.Leu110Arg) c.875T>G (p.Leu292Arg) | |
9 | g.127824916A>G | CA374982586 | ENG | c.329T>C (p.Leu110Pro) c.875T>C (p.Leu292Pro) | |
9 | g.127824916A>T | CA374982588 | ENG | c.329T>A (p.Leu110His) c.875T>A (p.Leu292His) | |
9 | g.127824916dup | CA2580079641 | ENG | c.329dup (p.Asp112ArgfsTer?) c.875dup (p.Asp294ArgfsTer?) | ClinVar |
9 | g.127824917G>A | CA374982595 | ENG | c.328C>T (p.Leu110Phe) c.874C>T (p.Leu292Phe) | |
9 | g.127824917G>C | CA374982591 | ENG | c.328C>G (p.Leu110Val) c.874C>G (p.Leu292Val) | |
9 | g.127824917G>T | CA374982592 | ENG | c.328C>A (p.Leu110Ile) c.874C>A (p.Leu292Ile) | |
9 | g.127824917_127824919delinsA | CA2580079642 | ENG | c.326_328delinsT (p.Lys109IlefsTer?) c.872_874delinsT (p.Lys291IlefsTer?) | ClinVar |
9 | g.127824918C>A | CA374982597 | ENG | c.327G>T (p.Lys109Asn) c.873G>T (p.Lys291Asn) | |
9 | g.127824918C>G | CA374982600 | ENG | c.327G>C (p.Lys109Asn) c.873G>C (p.Lys291Asn) | |
9 | g.127824918C>T | CA467474645 | ENG | c.327G>A (p.Lys109=) c.873G>A (p.Lys291=) | |
9 | g.127824919T>A | CA374982604 | ENG | c.326A>T (p.Lys109Met) c.872A>T (p.Lys291Met) | |
9 | g.127824919T>C | CA374982605 | ENG | c.326A>G (p.Lys109Arg) c.872A>G (p.Lys291Arg) | |
9 | g.127824919T>G | CA374982608 | ENG | c.326A>C (p.Lys109Thr) c.872A>C (p.Lys291Thr) | |
9 | g.127824920T>A | CA374982612 | ENG | c.325A>T (p.Lys109Ter) c.871A>T (p.Lys291Ter) | |
9 | g.127824920T>C | CA5252948 | ENG | c.325A>G (p.Lys109Glu) c.871A>G (p.Lys291Glu) | dbSNP ExAC gnomAD v4 |
9 | g.127824920T>G | CA374982613 | ENG | c.325A>C (p.Lys109Gln) c.871A>C (p.Lys291Gln) | |
9 | g.127824920T= | CA1879973717 | ENG | c.325A= (p.Lys109=) c.871A= (p.Lys291=) | |
9 | g.127824921G>A | CA467474653 | ENG | c.324C>T (p.Phe108=) c.870C>T (p.Phe290=) | ClinVar dbSNP |
9 | g.127824921G>C | CA374982617 | ENG | c.324C>G (p.Phe108Leu) c.870C>G (p.Phe290Leu) | |
9 | g.127824921G= | CA1879973728 | ENG | c.324C= (p.Phe108=) c.870C= (p.Phe290=) | |
9 | g.127824921G>T | CA374982618 | ENG | c.324C>A (p.Phe108Leu) c.870C>A (p.Phe290Leu) | |
9 | g.127824922A>C | CA374982622 | ENG | c.323T>G (p.Phe108Cys) c.869T>G (p.Phe290Cys) | |
9 | g.127824922A>G | CA374982624 | ENG | c.323T>C (p.Phe108Ser) c.869T>C (p.Phe290Ser) | |
9 | g.127824922A>T | CA374982627 | ENG | c.323T>A (p.Phe108Tyr) c.869T>A (p.Phe290Tyr) | |
9 | g.127824923A>C | CA374982629 | ENG | c.322T>G (p.Phe108Val) c.868T>G (p.Phe290Val) | |
9 | g.127824923A>G | CA374982631 | ENG | c.322T>C (p.Phe108Leu) c.868T>C (p.Phe290Leu) | |
9 | g.127824923A>T | CA374982633 | ENG | c.322T>A (p.Phe108Ile) c.868T>A (p.Phe290Ile) | |
9 | g.127824924G>A | CA467474660 | ENG | c.321C>T (p.Gly107=) c.867C>T (p.Gly289=) | ClinVar dbSNP |
9 | g.127824924G>C | CA467474661 | ENG | c.321C>G (p.Gly107=) c.867C>G (p.Gly289=) | |
9 | g.127824924G>T | CA467474659 | ENG | c.321C>A (p.Gly107=) c.867C>A (p.Gly289=) | gnomAD v4 |
9 | g.127824925_127824929dup | CA2499219640 | ENG | c.317_321dup (p.Phe108ValfsTer?) c.863_867dup (p.Phe290ValfsTer?) | ClinVar dbSNP |
9 | g.127824925C>A | CA374982635 | ENG | c.320G>T (p.Gly107Val) c.866G>T (p.Gly289Val) | |
9 | g.127824925C= | CA1879973733 | ENG | c.320G= (p.Gly107=) c.866G= (p.Gly289=) | |
9 | g.127824925C>G | CA374982636 | ENG | c.320G>C (p.Gly107Ala) c.866G>C (p.Gly289Ala) | |
9 | g.127824925C>T | CA374982638 | ENG | c.320G>A (p.Gly107Asp) c.866G>A (p.Gly289Asp) | ClinVar dbSNP |
9 | g.127824926C>A | CA374982643 | ENG | c.319G>T (p.Gly107Cys) c.865G>T (p.Gly289Cys) | |
9 | g.127824926C>G | CA374982642 | ENG | c.319G>C (p.Gly107Arg) c.865G>C (p.Gly289Arg) | |
9 | g.127824926C>T | CA374982640 | ENG | c.319G>A (p.Gly107Ser) c.865G>A (p.Gly289Ser) | |
9 | g.127824927A>C | CA467474668 | ENG | c.318T>G (p.Arg106=) c.864T>G (p.Arg288=) | |
9 | g.127824927A>G | CA467474669 | ENG | c.318T>C (p.Arg106=) c.864T>C (p.Arg288=) | |
9 | g.127824927A>T | CA467474672 | ENG | c.318T>A (p.Arg106=) c.864T>A (p.Arg288=) | |
9 | g.127824928C>A | CA374982644 | ENG | c.317G>T (p.Arg106Leu) c.863G>T (p.Arg288Leu) | |
9 | g.127824928C= | CA1879973744 | ENG | c.317G= (p.Arg106=) c.863G= (p.Arg288=) | |
9 | g.127824928C>G | CA374982646 | ENG | c.317G>C (p.Arg106Pro) c.863G>C (p.Arg288Pro) | gnomAD v4 |
9 | g.127824928C>T | CA5252949 | ENG | c.317G>A (p.Arg106His) c.863G>A (p.Arg288His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824929G>A | CA5252950 | ENG | c.316C>T (p.Arg106Cys) c.862C>T (p.Arg288Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.127824929G>C | CA374982649 | ENG | c.316C>G (p.Arg106Gly) c.862C>G (p.Arg288Gly) | |
9 | g.127824929G= | CA1879973755 | ENG | c.316C= (p.Arg106=) c.862C= (p.Arg288=) | |
9 | g.127824929G>T | CA374982655 | ENG | c.316C>A (p.Arg106Ser) c.862C>A (p.Arg288Ser) | gnomAD v4 |
9 | g.127824930A>C | CA374982657 | ENG | c.315T>G (p.Ile105Met) c.861T>G (p.Ile287Met) | |
9 | g.127824930A>G | CA467474679 | ENG | c.315T>C (p.Ile105=) c.861T>C (p.Ile287=) | |
9 | g.127824930A>T | CA467474680 | ENG | c.315T>A (p.Ile105=) c.861T>A (p.Ile287=) | |
9 | g.127824931A>C | CA374982658 | ENG | c.314T>G (p.Ile105Ser) c.860T>G (p.Ile287Ser) | |
9 | g.127824931A>G | CA374982660 | ENG | c.314T>C (p.Ile105Thr) c.860T>C (p.Ile287Thr) | |
9 | g.127824931A>T | CA374982662 | ENG | c.314T>A (p.Ile105Asn) c.860T>A (p.Ile287Asn) | |
9 | g.127824932T>A | CA374982664 | ENG | c.313A>T (p.Ile105Phe) c.859A>T (p.Ile287Phe) | |
9 | g.127824932T>C | CA374982666 | ENG | c.313A>G (p.Ile105Val) c.859A>G (p.Ile287Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824932T>G | CA374982668 | ENG | c.313A>C (p.Ile105Leu) c.859A>C (p.Ile287Leu) | |
9 | g.127824932T= | CA1879973759 | ENG | c.313A= (p.Ile105=) c.859A= (p.Ile287=) | |
9 | g.127824933G>A | CA467474690 | ENG | c.312C>T (p.Asn104=) c.858C>T (p.Asn286=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824933G>C | CA374982672 | ENG | c.312C>G (p.Asn104Lys) c.858C>G (p.Asn286Lys) | |
9 | g.127824933G= | CA1879973764 | ENG | c.312C= (p.Asn104=) c.858C= (p.Asn286=) | |
9 | g.127824933G>T | CA374982674 | ENG | c.312C>A (p.Asn104Lys) c.858C>A (p.Asn286Lys) |