Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41624206_41624215delinsCCTTGTCCAG | CA2260105450 | KRT17 | c.295_304delinsCTGGACAAGG (p.Leu99=) c.-312-9_-312delinsCTGGACAAGG n.361_370delinsCTGGACAAGG n.82_91delinsCTGGACAAGG c.71+19_72-15delinsCTGGACAAGG (n.71+19_72-15delinsCTGGACAAGG) c.250_259delinsCTGGACAAGG (p.Leu84=) | |
17 | g.41624207_41624215del | CA216621 | KRT17 | c.295_303del (p.Leu99_Lys101del) c.-312-9_-312-1del (n.-312-9_-312-1del) n.361_369del n.82_90del c.71+19_72-16del (n.71+19_72-16del) c.250_258del (p.Leu84_Lys86del) | ClinVar dbSNP |
17 | g.41624211_41624223delinsTCCAGGTAGGAGG | CA2260105453 | KRT17 | c.287_299delinsCCTCCTACCTGGA (p.Ala96=) c.-312-17_-312-5delinsCCTCCTACCTGGA (n.-312-17_-312-5delinsCCTCCTACCTGGA) n.353_365delinsCCTCCTACCTGGA n.74_86delinsCCTCCTACCTGGA c.71+11_72-20delinsCCTCCTACCTGGA (n.71+11_72-20delinsCCTCCTACCTGGA) c.242_254delinsCCTCCTACCTGGA (p.Ala81=) | |
17 | g.41624217_41624228del | CA216616 | KRT17 | c.287_298del (p.Ala96_Leu99del) c.-312-17_-312-6del (n.-312-17_-312-6del) n.353_364del n.74_85del c.71+11_72-21del (n.71+11_72-21del) c.242_253del (p.Ala81_Leu84del) | ClinVar dbSNP |
17 | g.41624212_41624236delinsCCAGGTAGGAGGCCAGGCGGTCATT | CA2260105454 | KRT17 | c.274_298delinsAATGACCGCCTGGCCTCCTACCTGG (p.Asn92=) c.-312-30_-312-6delinsAATGACCGCCTGGCCTCCTACCTGG (n.-312-30_-312-6delinsAATGACCGCCTGGCCTCCTACCTGG) n.340_364delinsAATGACCGCCTGGCCTCCTACCTGG n.61_85delinsAATGACCGCCTGGCCTCCTACCTGG c.69_72-21delinsAATGACCGCCTGGCCTCCTACCTGG c.229_253delinsAATGACCGCCTGGCCTCCTACCTGG (p.Asn77=) | |
17 | g.41624213C>A | CA500206315 | KRT17 | c.297G>T (p.Leu99=) c.-312-7G>T (n.-312-7G>T) n.363G>T n.84G>T c.72-22G>T (n.72-22G>T) c.252G>T (p.Leu84=) | |
17 | g.41624213C>G | CA500206316 | KRT17 | c.297G>C (p.Leu99=) c.-312-7G>C (n.-312-7G>C) n.363G>C n.84G>C c.72-22G>C (n.72-22G>C) c.252G>C (p.Leu84=) | |
17 | g.41624213C>T | CA500206324 | KRT17 | c.297G>A (p.Leu99=) c.-312-7G>A (n.-312-7G>A) n.363G>A n.84G>A c.72-22G>A (n.72-22G>A) c.252G>A (p.Leu84=) | |
17 | g.41624213_41624236del | CA216608 | KRT17 | c.274_297del (p.Asn92_Leu99del) c.-312-30_-312-7del (n.-312-30_-312-7del) n.340_363del n.61_84del c.69_72-22del c.229_252del (p.Asn77_Leu84del) | ClinVar dbSNP |
17 | g.41624214A= | CA2260105455 | KRT17 | c.296T= (p.Leu99=) c.-312-8T= (n.-312-8T=) n.362T= n.83T= c.71+20T= (n.71+20T=) c.251T= (p.Leu84=) | |
17 | g.41624214A>C | CA399512391 | KRT17 | c.296T>G (p.Leu99Arg) c.-312-8T>G (n.-312-8T>G) n.362T>G n.83T>G c.71+20T>G (n.71+20T>G) c.251T>G (p.Leu84Arg) | |
17 | g.41624214A>G | CA216623 | KRT17 | c.296T>C (p.Leu99Pro) c.-312-8T>C (n.-312-8T>C) n.362T>C n.83T>C c.71+20T>C (n.71+20T>C) c.251T>C (p.Leu84Pro) | ClinVar dbSNP |
17 | g.41624214A>T | CA399512395 | KRT17 | c.296T>A (p.Leu99Gln) c.-312-8T>A (n.-312-8T>A) n.362T>A n.83T>A c.71+20T>A (n.71+20T>A) c.251T>A (p.Leu84Gln) | |
17 | g.41624214_41624229delinsAGGTAGGAGGCCAGGC | CA2260105456 | KRT17 | c.281_296delinsGCCTGGCCTCCTACCT (p.Arg94=) c.-312-23_-312-8delinsGCCTGGCCTCCTACCT (n.-312-23_-312-8delinsGCCTGGCCTCCTACCT) n.347_362delinsGCCTGGCCTCCTACCT n.68_83delinsGCCTGGCCTCCTACCT c.71+5_71+20delinsGCCTGGCCTCCTACCT (n.71+5_71+20delinsGCCTGGCCTCCTACCT) c.236_251delinsGCCTGGCCTCCTACCT (p.Arg79=) | |
17 | g.41624215G>A | CA500206332 | KRT17 | c.295C>T (p.Leu99=) c.-312-9C>T (n.-312-9C>T) n.361C>T n.82C>T c.71+19C>T (n.71+19C>T) c.250C>T (p.Leu84=) | COSMIC |
17 | g.41624215G>C | CA399512398 | KRT17 | c.295C>G (p.Leu99Val) c.-312-9C>G (n.-312-9C>G) n.361C>G n.82C>G c.71+19C>G (n.71+19C>G) c.250C>G (p.Leu84Val) | |
17 | g.41624215G>T | CA399512400 | KRT17 | c.295C>A (p.Leu99Met) c.-312-9C>A (n.-312-9C>A) n.361C>A n.82C>A c.71+19C>A (n.71+19C>A) c.250C>A (p.Leu84Met) | gnomAD v4 |
17 | g.41624218_41624232del | CA216611 | KRT17 | c.281_295del (p.Arg94_Tyr98del) c.-312-23_-312-9del (n.-312-23_-312-9del) n.347_361del n.68_82del c.71+5_71+19del (n.71+5_71+19del) c.236_250del (p.Arg79_Tyr83del) | ClinVar dbSNP |
17 | g.41624216G>A | CA500206335 | KRT17 | c.294C>T (p.Tyr98=) c.-312-10C>T (n.-312-10C>T) n.360C>T n.81C>T c.71+18C>T (n.71+18C>T) c.249C>T (p.Tyr83=) | |
17 | g.41624216G>C | CA399512404 | KRT17 | c.294C>G (p.Tyr98Ter) c.-312-10C>G (n.-312-10C>G) n.360C>G n.81C>G c.71+18C>G (n.71+18C>G) c.249C>G (p.Tyr83Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624216G= | CA2260105457 | KRT17 | c.294C= (p.Tyr98=) c.-312-10C= (n.-312-10C=) n.360C= n.81C= c.71+18C= (n.71+18C=) c.249C= (p.Tyr83=) | |
17 | g.41624216G>T | CA399512407 | KRT17 | c.294C>A (p.Tyr98Ter) c.-312-10C>A (n.-312-10C>A) n.360C>A n.81C>A c.71+18C>A (n.71+18C>A) c.249C>A (p.Tyr83Ter) | gnomAD v4 |
17 | g.41624217T>A | CA399512410 | KRT17 | c.293A>T (p.Tyr98Phe) c.-312-11A>T (n.-312-11A>T) n.359A>T n.80A>T c.71+17A>T (n.71+17A>T) c.248A>T (p.Tyr83Phe) | gnomAD v4 |
17 | g.41624217T>C | CA399512412 | KRT17 | c.293A>G (p.Tyr98Cys) c.-312-11A>G (n.-312-11A>G) n.359A>G n.80A>G c.71+17A>G (n.71+17A>G) c.248A>G (p.Tyr83Cys) | |
17 | g.41624217T>G | CA399512414 | KRT17 | c.293A>C (p.Tyr98Ser) c.-312-11A>C (n.-312-11A>C) n.359A>C n.80A>C c.71+17A>C (n.71+17A>C) c.248A>C (p.Tyr83Ser) | gnomAD v4 |
17 | g.41624217_41624220delinsTAGG | CA2260105458 | KRT17 | c.290_293delinsCCTA (p.Ser97=) c.-312-14_-312-11delinsCCTA (n.-312-14_-312-11delinsCCTA) n.356_359delinsCCTA n.77_80delinsCCTA c.71+14_71+17delinsCCTA (n.71+14_71+17delinsCCTA) c.245_248delinsCCTA (p.Ser82=) | |
17 | g.41624218A= | CA2260105459 | KRT17 | c.292T= (p.Tyr98=) c.-312-12T= (n.-312-12T=) n.358T= n.79T= c.71+16T= (n.71+16T=) c.247T= (p.Tyr83=) | |
17 | g.41624218A>C | CA216620 | KRT17 | c.292T>G (p.Tyr98Asp) c.-312-12T>G (n.-312-12T>G) n.358T>G n.79T>G c.71+16T>G (n.71+16T>G) c.247T>G (p.Tyr83Asp) | ClinVar dbSNP |
17 | g.41624218A>G | CA399512418 | KRT17 | c.292T>C (p.Tyr98His) c.-312-12T>C (n.-312-12T>C) n.358T>C n.79T>C c.71+16T>C (n.71+16T>C) c.247T>C (p.Tyr83His) | |
17 | g.41624218A>T | CA399512421 | KRT17 | c.292T>A (p.Tyr98Asn) c.-312-12T>A (n.-312-12T>A) n.358T>A n.79T>A c.71+16T>A (n.71+16T>A) c.247T>A (p.Tyr83Asn) | |
17 | g.41624218_41624219del | CA2637840891 | KRT17 | c.291_292del (p.Tyr98ProfsTer13) c.-312-13_-312-12del (n.-312-13_-312-12del) n.357_358del n.78_79del c.71+15_71+16del (n.71+15_71+16del) c.246_247del (p.Tyr83ProfsTer13) | gnomAD v4 |
17 | g.41624221_41624223del | CA216618 | KRT17 | c.290_292del (p.Ser97del) c.-312-14_-312-12del (n.-312-14_-312-12del) n.356_358del n.77_79del c.71+14_71+16del (n.71+14_71+16del) c.245_247del (p.Ser82del) | ClinVar dbSNP |
17 | g.41624219G>A | CA290686072 | KRT17 | c.291C>T (p.Ser97=) c.-312-13C>T (n.-312-13C>T) n.357C>T n.78C>T c.71+15C>T (n.71+15C>T) c.246C>T (p.Ser82=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41624219G>C | CA500206342 | KRT17 | c.291C>G (p.Ser97=) c.-312-13C>G (n.-312-13C>G) n.357C>G n.78C>G c.71+15C>G (n.71+15C>G) c.246C>G (p.Ser82=) | |
17 | g.41624219G= | CA2260105460 | KRT17 | c.291C= (p.Ser97=) c.-312-13C= (n.-312-13C=) n.357C= n.78C= c.71+15C= (n.71+15C=) c.246C= (p.Ser82=) | |
17 | g.41624219G>T | CA500206341 | KRT17 | c.291C>A (p.Ser97=) c.-312-13C>A (n.-312-13C>A) n.357C>A n.78C>A c.71+15C>A (n.71+15C>A) c.246C>A (p.Ser82=) | |
17 | g.41624220G>A | CA399512426 | KRT17 | c.290C>T (p.Ser97Phe) c.-312-14C>T (n.-312-14C>T) n.356C>T n.77C>T c.71+14C>T (n.71+14C>T) c.245C>T (p.Ser82Phe) | |
17 | g.41624220G>C | CA399512428 | KRT17 | c.290C>G (p.Ser97Cys) c.-312-14C>G (n.-312-14C>G) n.356C>G n.77C>G c.71+14C>G (n.71+14C>G) c.245C>G (p.Ser82Cys) | |
17 | g.41624220G>T | CA399512430 | KRT17 | c.290C>A (p.Ser97Tyr) c.-312-14C>A (n.-312-14C>A) n.356C>A n.77C>A c.71+14C>A (n.71+14C>A) c.245C>A (p.Ser82Tyr) | |
17 | g.41624221A>C | CA399512434 | KRT17 | c.289T>G (p.Ser97Ala) c.-312-15T>G (n.-312-15T>G) n.355T>G n.76T>G c.71+13T>G (n.71+13T>G) c.244T>G (p.Ser82Ala) | |
17 | g.41624221A>G | CA399512436 | KRT17 | c.289T>C (p.Ser97Pro) c.-312-15T>C (n.-312-15T>C) n.355T>C n.76T>C c.71+13T>C (n.71+13T>C) c.244T>C (p.Ser82Pro) | |
17 | g.41624221A>T | CA399512438 | KRT17 | c.289T>A (p.Ser97Thr) c.-312-15T>A (n.-312-15T>A) n.355T>A n.76T>A c.71+13T>A (n.71+13T>A) c.244T>A (p.Ser82Thr) | |
17 | g.41624222G>A | CA500206352 | KRT17 | c.288C>T (p.Ala96=) c.-312-16C>T (n.-312-16C>T) n.354C>T n.75C>T c.71+12C>T (n.71+12C>T) c.243C>T (p.Ala81=) | dbSNP |
17 | g.41624222G>C | CA500206348 | KRT17 | c.288C>G (p.Ala96=) c.-312-16C>G (n.-312-16C>G) n.354C>G n.75C>G c.71+12C>G (n.71+12C>G) c.243C>G (p.Ala81=) | gnomAD v4 |
17 | g.41624222G>T | CA500206350 | KRT17 | c.288C>A (p.Ala96=) c.-312-16C>A (n.-312-16C>A) n.354C>A n.75C>A c.71+12C>A (n.71+12C>A) c.243C>A (p.Ala81=) | COSMIC |
17 | g.41624223G>A | CA399512441 | KRT17 | c.287C>T (p.Ala96Val) c.-312-17C>T (n.-312-17C>T) n.353C>T n.74C>T c.71+11C>T (n.71+11C>T) c.242C>T (p.Ala81Val) | |
17 | g.41624223G>C | CA399512442 | KRT17 | c.287C>G (p.Ala96Gly) c.-312-17C>G (n.-312-17C>G) n.353C>G n.74C>G c.71+11C>G (n.71+11C>G) c.242C>G (p.Ala81Gly) | |
17 | g.41624223G>T | CA399512444 | KRT17 | c.287C>A (p.Ala96Asp) c.-312-17C>A (n.-312-17C>A) n.353C>A n.74C>A c.71+11C>A (n.71+11C>A) c.242C>A (p.Ala81Asp) | |
17 | g.41624224C>A | CA8563798 | KRT17 | c.286G>T (p.Ala96Ser) c.-312-18G>T (n.-312-18G>T) n.352G>T n.73G>T c.71+10G>T (n.71+10G>T) c.241G>T (p.Ala81Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624224C= | CA2260105461 | KRT17 | c.286G= (p.Ala96=) c.-312-18G= (n.-312-18G=) n.352G= n.73G= c.71+10G= (n.71+10G=) c.241G= (p.Ala81=) | |
17 | g.41624224C>G | CA399512447 | KRT17 | c.286G>C (p.Ala96Pro) c.-312-18G>C (n.-312-18G>C) n.352G>C n.73G>C c.71+10G>C (n.71+10G>C) c.241G>C (p.Ala81Pro) | |
17 | g.41624224C>T | CA399512449 | KRT17 | c.286G>A (p.Ala96Thr) c.-312-18G>A (n.-312-18G>A) n.352G>A n.73G>A c.71+10G>A (n.71+10G>A) c.241G>A (p.Ala81Thr) | |
17 | g.41624225C>A | CA500206358 | KRT17 | c.285G>T (p.Leu95=) c.-312-19G>T (n.-312-19G>T) n.351G>T n.72G>T c.71+9G>T (n.71+9G>T) c.240G>T (p.Leu80=) | |
17 | g.41624225C>G | CA500206359 | KRT17 | c.285G>C (p.Leu95=) c.-312-19G>C (n.-312-19G>C) n.351G>C n.72G>C c.71+9G>C (n.71+9G>C) c.240G>C (p.Leu80=) | |
17 | g.41624225C>T | CA500206360 | KRT17 | c.285G>A (p.Leu95=) c.-312-19G>A (n.-312-19G>A) n.351G>A n.72G>A c.71+9G>A (n.71+9G>A) c.240G>A (p.Leu80=) | gnomAD v4 |
17 | g.41624226A= | CA2260105462 | KRT17 | c.284T= (p.Leu95=) c.-312-20T= (n.-312-20T=) n.350T= n.71T= c.71+8T= (n.71+8T=) c.239T= (p.Leu80=) | |
17 | g.41624226A>C | CA399512454 | KRT17 | c.284T>G (p.Leu95Arg) c.-312-20T>G (n.-312-20T>G) n.350T>G n.71T>G c.71+8T>G (n.71+8T>G) c.239T>G (p.Leu80Arg) | |
17 | g.41624226A>G | CA216615 | KRT17 | c.284T>C (p.Leu95Pro) c.-312-20T>C (n.-312-20T>C) n.350T>C n.71T>C c.71+8T>C (n.71+8T>C) c.239T>C (p.Leu80Pro) | ClinVar dbSNP |
17 | g.41624226A>T | CA216614 | KRT17 | c.284T>A (p.Leu95Gln) c.-312-20T>A (n.-312-20T>A) n.350T>A n.71T>A c.71+8T>A (n.71+8T>A) c.239T>A (p.Leu80Gln) | ClinVar dbSNP |
17 | g.41624227G>A | CA8563799 | KRT17 | c.283C>T (p.Leu95=) c.-312-21C>T (n.-312-21C>T) n.349C>T n.70C>T c.71+7C>T (n.71+7C>T) c.238C>T (p.Leu80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624227G>C | CA399512458 | KRT17 | c.283C>G (p.Leu95Val) c.-312-21C>G (n.-312-21C>G) n.349C>G n.70C>G c.71+7C>G (n.71+7C>G) c.238C>G (p.Leu80Val) | |
17 | g.41624227G= | CA2260105463 | KRT17 | c.283C= (p.Leu95=) c.-312-21C= (n.-312-21C=) n.349C= n.70C= c.71+7C= (n.71+7C=) c.238C= (p.Leu80=) | |
17 | g.41624227G>T | CA399512460 | KRT17 | c.283C>A (p.Leu95Met) c.-312-21C>A (n.-312-21C>A) n.349C>A n.70C>A c.71+7C>A (n.71+7C>A) c.238C>A (p.Leu80Met) | |
17 | g.41624228G>A | CA500206365 | KRT17 | c.282C>T (p.Arg94=) c.-312-22C>T (n.-312-22C>T) n.348C>T n.69C>T c.71+6C>T (n.71+6C>T) c.237C>T (p.Arg79=) | |
17 | g.41624228G>C | CA500206366 | KRT17 | c.282C>G (p.Arg94=) c.-312-22C>G (n.-312-22C>G) n.348C>G n.69C>G c.71+6C>G (n.71+6C>G) c.237C>G (p.Arg79=) | |
17 | g.41624228G>T | CA500206368 | KRT17 | c.282C>A (p.Arg94=) c.-312-22C>A (n.-312-22C>A) n.348C>A n.69C>A c.71+6C>A (n.71+6C>A) c.237C>A (p.Arg79=) | |
17 | g.41624229C>A | CA399512464 | KRT17 | c.281G>T (p.Arg94Leu) c.-312-23G>T (n.-312-23G>T) n.347G>T n.68G>T c.71+5G>T (n.71+5G>T) c.236G>T (p.Arg79Leu) | |
17 | g.41624229C= | CA2260105464 | KRT17 | c.281G= (p.Arg94=) c.-312-23G= (n.-312-23G=) n.347G= n.68G= c.71+5G= (n.71+5G=) c.236G= (p.Arg79=) | |
17 | g.41624229C>G | CA216613 | KRT17 | c.281G>C (p.Arg94Pro) c.-312-23G>C (n.-312-23G>C) n.347G>C n.68G>C c.71+5G>C (n.71+5G>C) c.236G>C (p.Arg79Pro) | ClinVar dbSNP |
17 | g.41624229C>T | CA124154 | KRT17 | c.281G>A (p.Arg94His) c.-312-23G>A (n.-312-23G>A) n.347G>A n.68G>A c.71+5G>A (n.71+5G>A) c.236G>A (p.Arg79His) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.41624230G>A | CA124156 | KRT17 | c.280C>T (p.Arg94Cys) c.-312-24C>T (n.-312-24C>T) n.346C>T n.67C>T c.71+4C>T (n.71+4C>T) c.235C>T (p.Arg79Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41624230G>C | CA399512470 | KRT17 | c.280C>G (p.Arg94Gly) c.-312-24C>G (n.-312-24C>G) n.346C>G n.67C>G c.71+4C>G (n.71+4C>G) c.235C>G (p.Arg79Gly) | |
17 | g.41624230G= | CA2260105465 | KRT17 | c.280C= (p.Arg94=) c.-312-24C= (n.-312-24C=) n.346C= n.67C= c.71+4C= (n.71+4C=) c.235C= (p.Arg79=) | |
17 | g.41624230G>T | CA399512472 | KRT17 | c.280C>A (p.Arg94Ser) c.-312-24C>A (n.-312-24C>A) n.346C>A n.67C>A c.71+4C>A (n.71+4C>A) c.235C>A (p.Arg79Ser) | |
17 | g.41624231G>A | CA8563800 | KRT17 | c.279C>T (p.Asp93=) c.-312-25C>T (n.-312-25C>T) n.345C>T n.66C>T c.71+3C>T (n.71+3C>T) c.234C>T (p.Asp78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624231G>C | CA399512476 | KRT17 | c.279C>G (p.Asp93Glu) c.-312-25C>G (n.-312-25C>G) n.345C>G n.66C>G c.71+3C>G (n.71+3C>G) c.234C>G (p.Asp78Glu) | |
17 | g.41624231G= | CA2260105466 | KRT17 | c.279C= (p.Asp93=) c.-312-25C= (n.-312-25C=) n.345C= n.66C= c.71+3C= (n.71+3C=) c.234C= (p.Asp78=) | |
17 | g.41624231G>T | CA399512478 | KRT17 | c.279C>A (p.Asp93Glu) c.-312-25C>A (n.-312-25C>A) n.345C>A n.66C>A c.71+3C>A (n.71+3C>A) c.234C>A (p.Asp78Glu) | |
17 | g.41624232T>A | CA399512483 | KRT17 | c.278A>T (p.Asp93Val) c.-312-26A>T (n.-312-26A>T) n.344A>T n.65A>T c.71+2A>T (n.71+2A>T) c.233A>T (p.Asp78Val) | gnomAD v4 |
17 | g.41624232T>C | CA399512485 | KRT17 | c.278A>G (p.Asp93Gly) c.-312-26A>G (n.-312-26A>G) n.344A>G n.65A>G c.71+2A>G (n.71+2A>G) c.233A>G (p.Asp78Gly) | |
17 | g.41624232T>G | CA399512480 | KRT17 | c.278A>C (p.Asp93Ala) c.-312-26A>C (n.-312-26A>C) n.344A>C n.65A>C c.71+2A>C (n.71+2A>C) c.233A>C (p.Asp78Ala) | |
17 | g.41624232_41624241delinsA | CA2695225892 | KRT17 | c.269_278delinsT (p.Asn90_Asp93delinsIle) c.-312-35_-312-26delinsT (n.-312-35_-312-26delinsT) n.335_344delinsT n.56_65delinsT c.64_71+2delinsT c.224_233delinsT (p.Asn75_Asp78delinsIle) | |
17 | g.41624233C>A | CA399512488 | KRT17 | c.277G>T (p.Asp93Tyr) c.-312-27G>T (n.-312-27G>T) n.343G>T n.64G>T c.71+1G>T (n.71+1G>T) c.232G>T (p.Asp78Tyr) | |
17 | g.41624233C>G | CA399512489 | KRT17 | c.277G>C (p.Asp93His) c.-312-27G>C (n.-312-27G>C) n.343G>C n.64G>C c.71+1G>C (n.71+1G>C) c.232G>C (p.Asp78His) | |
17 | g.41624233C>T | CA399512490 | KRT17 | c.277G>A (p.Asp93Asn) c.-312-27G>A (n.-312-27G>A) n.343G>A n.64G>A c.71+1G>A (n.71+1G>A) c.232G>A (p.Asp78Asn) | |
17 | g.41624234A= | CA2260105467 | KRT17 | c.276T= (p.Asn92=) c.-312-28T= (n.-312-28T=) n.342T= n.63T= c.71T= (p.Met24=) c.231T= (p.Asn77=) | |
17 | g.41624234A>C | CA399512492 | KRT17 | c.276T>G (p.Asn92Lys) c.-312-28T>G (n.-312-28T>G) n.342T>G n.63T>G c.71T>G (p.Met24Arg) c.231T>G (p.Asn77Lys) | |
17 | g.41624234A>G | CA8563801 | KRT17 | c.276T>C (p.Asn92=) c.-312-28T>C (n.-312-28T>C) n.342T>C n.63T>C c.71T>C (p.Met24Thr) c.231T>C (p.Asn77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624234A>T | CA399512496 | KRT17 | c.276T>A (p.Asn92Lys) c.-312-28T>A (n.-312-28T>A) n.342T>A n.63T>A c.71T>A (p.Met24Lys) c.231T>A (p.Asn77Lys) | |
17 | g.41624235T>A | CA399512502 | KRT17 | c.275A>T (p.Asn92Ile) c.-312-29A>T (n.-312-29A>T) n.341A>T n.62A>T c.70A>T (p.Met24Leu) c.230A>T (p.Asn77Ile) | |
17 | g.41624235T>C | CA216610 | KRT17 | c.275A>G (p.Asn92Ser) c.-312-29A>G (n.-312-29A>G) n.341A>G n.62A>G c.70A>G (p.Met24Val) c.230A>G (p.Asn77Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.41624235T>G | CA399512499 | KRT17 | c.275A>C (p.Asn92Thr) c.-312-29A>C (n.-312-29A>C) n.341A>C n.62A>C c.70A>C (p.Met24Leu) c.230A>C (p.Asn77Thr) | |
17 | g.41624235T= | CA2260105468 | KRT17 | c.275A= (p.Asn92=) c.-312-29A= (n.-312-29A=) n.341A= n.62A= c.70A= (p.Met24=) c.230A= (p.Asn77=) | |
17 | g.41624236T>A | CA399512505 | KRT17 | c.274A>T (p.Asn92Tyr) c.-312-30A>T (n.-312-30A>T) n.340A>T n.61A>T c.69A>T (p.Ser23=) c.229A>T (p.Asn77Tyr) | |
17 | g.41624236T>C | CA216607 | KRT17 | c.274A>G (p.Asn92Asp) c.-312-30A>G (n.-312-30A>G) n.340A>G n.61A>G c.69A>G (p.Ser23=) c.229A>G (p.Asn77Asp) | ClinVar dbSNP gnomAD v4 |
17 | g.41624236T>G | CA124153 | KRT17 | c.274A>C (p.Asn92His) c.-312-30A>C (n.-312-30A>C) n.340A>C n.61A>C c.69A>C (p.Ser23=) c.229A>C (p.Asn77His) | ClinVar dbSNP |
17 | g.41624236T= | CA2260105469 | KRT17 | c.274A= (p.Asn92=) c.-312-30A= (n.-312-30A=) n.340A= n.61A= c.69A= (p.Ser23=) c.229A= (p.Asn77=) | |
17 | g.41624237G>A | CA8563802 | KRT17 | c.273C>T (p.Leu91=) c.-312-31C>T (n.-312-31C>T) n.339C>T n.60C>T c.68C>T (p.Ser23Leu) c.228C>T (p.Leu76=) | dbSNP ExAC gnomAD v2 |
17 | g.41624237G>C | CA399512511 | KRT17 | c.273C>G (p.Leu91=) c.-312-31C>G (n.-312-31C>G) n.339C>G n.60C>G c.68C>G (p.Ser23Ter) c.228C>G (p.Leu76=) | |
17 | g.41624237G= | CA2260105470 | KRT17 | c.273C= (p.Leu91=) c.-312-31C= (n.-312-31C=) n.339C= n.60C= c.68C= (p.Ser23=) c.228C= (p.Leu76=) | |
17 | g.41624237G>T | CA399512512 | KRT17 | c.273C>A (p.Leu91=) c.-312-31C>A (n.-312-31C>A) n.339C>A n.60C>A c.68C>A (p.Ser23Ter) c.228C>A (p.Leu76=) | |
17 | g.41624238A>C | CA399512516 | KRT17 | c.272T>G (p.Leu91Arg) c.-312-32T>G (n.-312-32T>G) n.338T>G n.59T>G c.67T>G (p.Ser23Ala) c.227T>G (p.Leu76Arg) | |
17 | g.41624238A>G | CA399512520 | KRT17 | c.272T>C (p.Leu91Pro) c.-312-32T>C (n.-312-32T>C) n.338T>C n.59T>C c.67T>C (p.Ser23Pro) c.227T>C (p.Leu76Pro) | |
17 | g.41624238A>T | CA399512518 | KRT17 | c.272T>A (p.Leu91His) c.-312-32T>A (n.-312-32T>A) n.338T>A n.59T>A c.67T>A (p.Ser23Thr) c.227T>A (p.Leu76His) | |
17 | g.41624239G>A | CA399512523 | KRT17 | c.271C>T (p.Leu91Phe) c.-312-33C>T (n.-312-33C>T) n.337C>T n.58C>T c.66C>T (p.Thr22=) c.226C>T (p.Leu76Phe) | dbSNP |
17 | g.41624239G>C | CA399512525 | KRT17 | c.271C>G (p.Leu91Val) c.-312-33C>G (n.-312-33C>G) n.337C>G n.58C>G c.66C>G (p.Thr22=) c.226C>G (p.Leu76Val) | gnomAD v4 |
17 | g.41624239G= | CA2260105471 | KRT17 | c.271C= (p.Leu91=) c.-312-33C= (n.-312-33C=) n.337C= n.58C= c.66C= (p.Thr22=) c.226C= (p.Leu76=) | |
17 | g.41624239G>T | CA399512526 | KRT17 | c.271C>A (p.Leu91Ile) c.-312-33C>A (n.-312-33C>A) n.337C>A n.58C>A c.66C>A (p.Thr22=) c.226C>A (p.Leu76Ile) | |
17 | g.41624240G>A | CA399512530 | KRT17 | c.270C>T (p.Asn90=) c.-312-34C>T (n.-312-34C>T) n.336C>T n.57C>T c.65C>T (p.Thr22Ile) c.225C>T (p.Asn75=) | gnomAD v4 |
17 | g.41624240G>C | CA399512531 | KRT17 | c.270C>G (p.Asn90Lys) c.-312-34C>G (n.-312-34C>G) n.336C>G n.57C>G c.65C>G (p.Thr22Ser) c.225C>G (p.Asn75Lys) | |
17 | g.41624240G>T | CA399512534 | KRT17 | c.270C>A (p.Asn90Lys) c.-312-34C>A (n.-312-34C>A) n.336C>A n.57C>A c.65C>A (p.Thr22Asn) c.225C>A (p.Asn75Lys) | gnomAD v4 |
17 | g.41624241T>A | CA399512537 | KRT17 | c.269A>T (p.Asn90Ile) c.-312-35A>T (n.-312-35A>T) n.335A>T n.56A>T c.64A>T (p.Thr22Ser) c.224A>T (p.Asn75Ile) | |
17 | g.41624241T>C | CA399512539 | KRT17 | c.269A>G (p.Asn90Ser) c.-312-35A>G (n.-312-35A>G) n.335A>G n.56A>G c.64A>G (p.Thr22Ala) c.224A>G (p.Asn75Ser) | |
17 | g.41624241T>G | CA399512541 | KRT17 | c.269A>C (p.Asn90Thr) c.-312-35A>C (n.-312-35A>C) n.335A>C n.56A>C c.64A>C (p.Thr22Pro) c.224A>C (p.Asn75Thr) | |
17 | g.41624242T>A | CA399512543 | KRT17 | c.268A>T (p.Asn90Tyr) c.-312-36A>T (n.-312-36A>T) n.334A>T n.55A>T c.63A>T (p.Arg21Ser) c.223A>T (p.Asn75Tyr) | |
17 | g.41624242T>C | CA399512545 | KRT17 | c.268A>G (p.Asn90Asp) c.-312-36A>G (n.-312-36A>G) n.334A>G n.55A>G c.63A>G (p.Arg21=) c.223A>G (p.Asn75Asp) | |
17 | g.41624242T>G | CA399512546 | KRT17 | c.268A>C (p.Asn90His) c.-312-36A>C (n.-312-36A>C) n.334A>C n.55A>C c.63A>C (p.Arg21Ser) c.223A>C (p.Asn75His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624242T= | CA2260105472 | KRT17 | c.268A= (p.Asn90=) c.-312-36A= (n.-312-36A=) n.334A= n.55A= c.63A= (p.Arg21=) c.223A= (p.Asn75=) | |
17 | g.41624243C>A | CA399512547 | KRT17 | c.267G>T (p.Gln89His) c.-312-37G>T (n.-312-37G>T) n.333G>T n.54G>T c.62G>T (p.Arg21Ile) c.222G>T (p.Gln74His) | |
17 | g.41624243C= | CA2260105473 | KRT17 | c.267G= (p.Gln89=) c.-312-37G= (n.-312-37G=) n.333G= n.54G= c.62G= (p.Arg21=) c.222G= (p.Gln74=) | |
17 | g.41624243C>G | CA8563803 | KRT17 | c.267G>C (p.Gln89His) c.-312-37G>C (n.-312-37G>C) n.333G>C n.54G>C c.62G>C (p.Arg21Thr) c.222G>C (p.Gln74His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624243C>T | CA399512549 | KRT17 | c.267G>A (p.Gln89=) c.-312-37G>A (n.-312-37G>A) n.333G>A n.54G>A c.62G>A (p.Arg21Lys) c.222G>A (p.Gln74=) | |
17 | g.41624244T>A | CA399512554 | KRT17 | c.266A>T (p.Gln89Leu) c.-312-38A>T (n.-312-38A>T) n.332A>T n.53A>T c.61A>T (p.Arg21Ter) c.221A>T (p.Gln74Leu) | |
17 | g.41624244T>C | CA399512555 | KRT17 | c.266A>G (p.Gln89Arg) c.-312-38A>G (n.-312-38A>G) n.332A>G n.53A>G c.61A>G (p.Arg21Gly) c.221A>G (p.Gln74Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41624244T>G | CA399512558 | KRT17 | c.266A>C (p.Gln89Pro) c.-312-38A>C (n.-312-38A>C) n.332A>C n.53A>C c.61A>C (p.Arg21=) c.221A>C (p.Gln74Pro) | |
17 | g.41624244T= | CA2260105474 | KRT17 | c.266A= (p.Gln89=) c.-312-38A= (n.-312-38A=) n.332A= n.53A= c.61A= (p.Arg21=) c.221A= (p.Gln74=) | |
17 | g.41624245G>A | CA399512561 | KRT17 | c.265C>T (p.Gln89Ter) c.-312-39C>T (n.-312-39C>T) n.331C>T n.52C>T c.60C>T (p.Cys20=) c.220C>T (p.Gln74Ter) | gnomAD v4 |
17 | g.41624245G>C | CA399512563 | KRT17 | c.265C>G (p.Gln89Glu) c.-312-39C>G (n.-312-39C>G) n.331C>G n.52C>G c.60C>G (p.Cys20Trp) c.220C>G (p.Gln74Glu) | |
17 | g.41624245G>T | CA399512565 | KRT17 | c.265C>A (p.Gln89Lys) c.-312-39C>A (n.-312-39C>A) n.331C>A n.52C>A c.60C>A (p.Cys20Ter) c.220C>A (p.Gln74Lys) | |
17 | g.41624245_41624246insA | CA645576831 | KRT17 | c.264_265insT (p.Gln89SerfsTer5) c.-312-40_-312-39insT (n.-312-40_-312-39insT) n.330_331insT n.51_52insT c.59_60insT (p.Arg21GlnfsTer8) c.219_220insT (p.Gln74SerfsTer5) | COSMIC |
17 | g.41624246C>A | CA399512567 | KRT17 | c.264G>T (p.Met88Ile) c.-312-40G>T (n.-312-40G>T) n.330G>T n.51G>T c.59G>T (p.Cys20Phe) c.219G>T (p.Met73Ile) | |
17 | g.41624246C= | CA2260105475 | KRT17 | c.264G= (p.Met88=) c.-312-40G= (n.-312-40G=) n.330G= n.51G= c.59G= (p.Cys20=) c.219G= (p.Met73=) | |
17 | g.41624246C>G | CA399512569 | KRT17 | c.264G>C (p.Met88Ile) c.-312-40G>C (n.-312-40G>C) n.330G>C n.51G>C c.59G>C (p.Cys20Ser) c.219G>C (p.Met73Ile) | |
17 | g.41624246C>T | CA399512570 | KRT17 | c.264G>A (p.Met88Ile) c.-312-40G>A (n.-312-40G>A) n.330G>A n.51G>A c.59G>A (p.Cys20Tyr) c.219G>A (p.Met73Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624247A= | CA2260105476 | KRT17 | c.263T= (p.Met88=) c.-312-41T= (n.-312-41T=) n.329T= n.50T= c.58T= (p.Cys20=) c.218T= (p.Met73=) | |
17 | g.41624247A>C | CA399512572 | KRT17 | c.263T>G (p.Met88Arg) c.-312-41T>G (n.-312-41T>G) n.329T>G n.50T>G c.58T>G (p.Cys20Gly) c.218T>G (p.Met73Arg) | |
17 | g.41624247A>G | CA216606 | KRT17 | c.263T>C (p.Met88Thr) c.-312-41T>C (n.-312-41T>C) n.329T>C n.50T>C c.58T>C (p.Cys20Arg) c.218T>C (p.Met73Thr) | ClinVar dbSNP |
17 | g.41624247A>T | CA216605 | KRT17 | c.263T>A (p.Met88Lys) c.-312-41T>A (n.-312-41T>A) n.329T>A n.50T>A c.58T>A (p.Cys20Ser) c.218T>A (p.Met73Lys) | ClinVar dbSNP |
17 | g.41624248T>A | CA399512579 | KRT17 | c.262A>T (p.Met88Leu) c.-312-42A>T (n.-312-42A>T) n.328A>T n.49A>T c.57A>T (p.Pro19=) c.217A>T (p.Met73Leu) | |
17 | g.41624248T>C | CA399512576 | KRT17 | c.262A>G (p.Met88Val) c.-312-42A>G (n.-312-42A>G) n.328A>G n.49A>G c.57A>G (p.Pro19=) c.217A>G (p.Met73Val) | |
17 | g.41624248T>G | CA399512577 | KRT17 | c.262A>C (p.Met88Leu) c.-312-42A>C (n.-312-42A>C) n.328A>C n.49A>C c.57A>C (p.Pro19=) c.217A>C (p.Met73Leu) | |
17 | g.41624249G>A | CA399512582 | KRT17 | c.261C>T (p.Thr87=) c.-312-43C>T (n.-312-43C>T) n.327C>T n.48C>T c.56C>T (p.Pro19Leu) c.216C>T (p.Thr72=) | dbSNP |
17 | g.41624249G>C | CA399512584 | KRT17 | c.261C>G (p.Thr87=) c.-312-43C>G (n.-312-43C>G) n.327C>G n.48C>G c.56C>G (p.Pro19Arg) c.216C>G (p.Thr72=) | |
17 | g.41624249G= | CA2260105477 | KRT17 | c.261C= (p.Thr87=) c.-312-43C= (n.-312-43C=) n.327C= n.48C= c.56C= (p.Pro19=) c.216C= (p.Thr72=) | |
17 | g.41624249G>T | CA399512587 | KRT17 | c.261C>A (p.Thr87=) c.-312-43C>A (n.-312-43C>A) n.327C>A n.48C>A c.56C>A (p.Pro19Gln) c.216C>A (p.Thr72=) | gnomAD v4 |
17 | g.41624250G>A | CA399512589 | KRT17 | c.260C>T (p.Thr87Ile) c.-312-44C>T (n.-312-44C>T) n.326C>T n.47C>T c.55C>T (p.Pro19Ser) c.215C>T (p.Thr72Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624250G>C | CA399512591 | KRT17 | c.260C>G (p.Thr87Ser) c.-312-44C>G (n.-312-44C>G) n.326C>G n.47C>G c.55C>G (p.Pro19Ala) c.215C>G (p.Thr72Ser) | |
17 | g.41624250G= | CA2260105478 | KRT17 | c.260C= (p.Thr87=) c.-312-44C= (n.-312-44C=) n.326C= n.47C= c.55C= (p.Pro19=) c.215C= (p.Thr72=) | |
17 | g.41624250G>T | CA399512594 | KRT17 | c.260C>A (p.Thr87Asn) c.-312-44C>A (n.-312-44C>A) n.326C>A n.47C>A c.55C>A (p.Pro19Thr) c.215C>A (p.Thr72Asn) | |
17 | g.41624251T>A | CA399512597 | KRT17 | c.259A>T (p.Thr87Ser) c.-312-45A>T (n.-312-45A>T) n.325A>T n.46A>T c.54A>T (p.Pro18=) c.214A>T (p.Thr72Ser) | |
17 | g.41624251T>C | CA399512599 | KRT17 | c.259A>G (p.Thr87Ala) c.-312-45A>G (n.-312-45A>G) n.325A>G n.46A>G c.54A>G (p.Pro18=) c.214A>G (p.Thr72Ala) | |
17 | g.41624251T>G | CA399512601 | KRT17 | c.259A>C (p.Thr87Pro) c.-312-45A>C (n.-312-45A>C) n.325A>C n.46A>C c.54A>C (p.Pro18=) c.214A>C (p.Thr72Pro) | |
17 | g.41624252G>A | CA399512603 | KRT17 | c.258C>T (p.Ala86=) c.-312-46C>T (n.-312-46C>T) n.324C>T n.45C>T c.53C>T (p.Pro18Leu) c.213C>T (p.Ala71=) | gnomAD v4 |
17 | g.41624252G>C | CA399512605 | KRT17 | c.258C>G (p.Ala86=) c.-312-46C>G (n.-312-46C>G) n.324C>G n.45C>G c.53C>G (p.Pro18Arg) c.213C>G (p.Ala71=) | |
17 | g.41624252G>T | CA399512607 | KRT17 | c.258C>A (p.Ala86=) c.-312-46C>A (n.-312-46C>A) n.324C>A n.45C>A c.53C>A (p.Pro18Gln) c.213C>A (p.Ala71=) | |
17 | g.41624253G>A | CA399512612 | KRT17 | c.257C>T (p.Ala86Val) c.-312-47C>T (n.-312-47C>T) n.323C>T n.44C>T c.52C>T (p.Pro18Ser) c.212C>T (p.Ala71Val) | |
17 | g.41624253G>C | CA399512614 | KRT17 | c.257C>G (p.Ala86Gly) c.-312-47C>G (n.-312-47C>G) n.323C>G n.44C>G c.52C>G (p.Pro18Ala) c.212C>G (p.Ala71Gly) | |
17 | g.41624253G= | CA2260105479 | KRT17 | c.257C= (p.Ala86=) c.-312-47C= (n.-312-47C=) n.323C= n.44C= c.52C= (p.Pro18=) c.212C= (p.Ala71=) | |
17 | g.41624253G>T | CA399512610 | KRT17 | c.257C>A (p.Ala86Asp) c.-312-47C>A (n.-312-47C>A) n.323C>A n.44C>A c.52C>A (p.Pro18Thr) c.212C>A (p.Ala71Asp) | dbSNP |
17 | g.41624254C>A | CA399512617 | KRT17 | c.256G>T (p.Ala86Ser) c.-312-48G>T (n.-312-48G>T) n.322G>T n.43G>T c.51G>T (p.Arg17Ser) c.211G>T (p.Ala71Ser) | |
17 | g.41624254C= | CA2260105480 | KRT17 | c.256G= (p.Ala86=) c.-312-48G= (n.-312-48G=) n.322G= n.43G= c.51G= (p.Arg17=) c.211G= (p.Ala71=) | |
17 | g.41624254C>G | CA399512621 | KRT17 | c.256G>C (p.Ala86Pro) c.-312-48G>C (n.-312-48G>C) n.322G>C n.43G>C c.51G>C (p.Arg17Ser) c.211G>C (p.Ala71Pro) | |
17 | g.41624254C>T | CA399512618 | KRT17 | c.256G>A (p.Ala86Thr) c.-312-48G>A (n.-312-48G>A) n.322G>A n.43G>A c.51G>A (p.Arg17=) c.211G>A (p.Ala71Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624255C>A | CA399512623 | KRT17 | c.255G>T (p.Lys85Asn) c.-312-49G>T (n.-312-49G>T) n.321G>T n.42G>T c.50G>T (p.Arg17Met) c.210G>T (p.Lys70Asn) | COSMIC |
17 | g.41624255C= | CA2260105481 | KRT17 | c.255G= (p.Lys85=) c.-312-49G= (n.-312-49G=) n.321G= n.42G= c.50G= (p.Arg17=) c.210G= (p.Lys70=) | |
17 | g.41624255C>G | CA399512627 | KRT17 | c.255G>C (p.Lys85Asn) c.-312-49G>C (n.-312-49G>C) n.321G>C n.42G>C c.50G>C (p.Arg17Thr) c.210G>C (p.Lys70Asn) | |
17 | g.41624255C>T | CA8563804 | KRT17 | c.255G>A (p.Lys85=) c.-312-49G>A (n.-312-49G>A) n.321G>A n.42G>A c.50G>A (p.Arg17Lys) c.210G>A (p.Lys70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624256T>A | CA399512630 | KRT17 | c.254A>T (p.Lys85Met) c.-312-50A>T (n.-312-50A>T) n.320A>T n.41A>T c.49A>T (p.Arg17Trp) c.209A>T (p.Lys70Met) | |
17 | g.41624256T>C | CA399512634 | KRT17 | c.254A>G (p.Lys85Arg) c.-312-50A>G (n.-312-50A>G) n.320A>G n.41A>G c.49A>G (p.Arg17Gly) c.209A>G (p.Lys70Arg) | COSMIC |
17 | g.41624256T>G | CA399512632 | KRT17 | c.254A>C (p.Lys85Thr) c.-312-50A>C (n.-312-50A>C) n.320A>C n.41A>C c.49A>C (p.Arg17=) c.209A>C (p.Lys70Thr) | |
17 | g.41624257T>A | CA399512637 | KRT17 | c.253A>T (p.Lys85Ter) c.-312-51A>T (n.-312-51A>T) n.319A>T n.40A>T c.48A>T (p.Arg16Ser) c.208A>T (p.Lys70Ter) | |
17 | g.41624257T>C | CA399512641 | KRT17 | c.253A>G (p.Lys85Glu) c.-312-51A>G (n.-312-51A>G) n.319A>G n.40A>G c.48A>G (p.Arg16=) c.208A>G (p.Lys70Glu) | |
17 | g.41624257T>G | CA399512639 | KRT17 | c.253A>C (p.Lys85Gln) c.-312-51A>C (n.-312-51A>C) n.319A>C n.40A>C c.48A>C (p.Arg16Ser) c.208A>C (p.Lys70Gln) | |
17 | g.41624258C>A | CA399512644 | KRT17 | c.252G>T (p.Glu84Asp) c.-312-52G>T (n.-312-52G>T) n.318G>T n.39G>T c.47G>T (p.Arg16Ile) c.207G>T (p.Glu69Asp) | |
17 | g.41624258C>G | CA399512646 | KRT17 | c.252G>C (p.Glu84Asp) c.-312-52G>C (n.-312-52G>C) n.318G>C n.39G>C c.47G>C (p.Arg16Thr) c.207G>C (p.Glu69Asp) | |
17 | g.41624258C>T | CA399512648 | KRT17 | c.252G>A (p.Glu84=) c.-312-52G>A (n.-312-52G>A) n.318G>A n.39G>A c.47G>A (p.Arg16Lys) c.207G>A (p.Glu69=) | |
17 | g.41624259T>A | CA399512650 | KRT17 | c.251A>T (p.Glu84Val) c.-312-53A>T (n.-312-53A>T) n.317A>T n.38A>T c.46A>T (p.Arg16Ter) c.206A>T (p.Glu69Val) | |
17 | g.41624259T>C | CA399512653 | KRT17 | c.251A>G (p.Glu84Gly) c.-312-53A>G (n.-312-53A>G) n.317A>G n.38A>G c.46A>G (p.Arg16Gly) c.206A>G (p.Glu69Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624259T>G | CA399512655 | KRT17 | c.251A>C (p.Glu84Ala) c.-312-53A>C (n.-312-53A>C) n.317A>C n.38A>C c.46A>C (p.Arg16=) c.206A>C (p.Glu69Ala) | |
17 | g.41624259T= | CA2260105482 | KRT17 | c.251A= (p.Glu84=) c.-312-53A= (n.-312-53A=) n.317A= n.38A= c.46A= (p.Arg16=) c.206A= (p.Glu69=) | |
17 | g.41624260C>A | CA399512658 | KRT17 | c.250G>T (p.Glu84Ter) c.-312-54G>T (n.-312-54G>T) n.316G>T n.37G>T c.45G>T (p.Val15=) c.205G>T (p.Glu69Ter) | |
17 | g.41624260C>G | CA399512659 | KRT17 | c.250G>C (p.Glu84Gln) c.-312-54G>C (n.-312-54G>C) n.316G>C n.37G>C c.45G>C (p.Val15=) c.205G>C (p.Glu69Gln) | |
17 | g.41624260C>T | CA399512662 | KRT17 | c.250G>A (p.Glu84Lys) c.-312-54G>A (n.-312-54G>A) n.316G>A n.37G>A c.45G>A (p.Val15=) c.205G>A (p.Glu69Lys) | gnomAD v4 |
17 | g.41624261A= | CA2260105483 | KRT17 | c.249T= (p.Gly83=) c.-312-55T= (n.-312-55T=) n.315T= n.36T= c.44T= (p.Val15=) c.204T= (p.Gly68=) | |
17 | g.41624261A>C | CA399512665 | KRT17 | c.249T>G (p.Gly83=) c.-312-55T>G (n.-312-55T>G) n.315T>G n.36T>G c.44T>G (p.Val15Gly) c.204T>G (p.Gly68=) | dbSNP |
17 | g.41624261A>G | CA399512667 | KRT17 | c.249T>C (p.Gly83=) c.-312-55T>C (n.-312-55T>C) n.315T>C n.36T>C c.44T>C (p.Val15Ala) c.204T>C (p.Gly68=) | |
17 | g.41624261A>T | CA8563805 | KRT17 | c.249T>A (p.Gly83=) c.-312-55T>A (n.-312-55T>A) n.315T>A n.36T>A c.44T>A (p.Val15Glu) c.204T>A (p.Gly68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624262C>A | CA399512671 | KRT17 | c.248G>T (p.Gly83Val) c.-312-56G>T (n.-312-56G>T) n.314G>T n.35G>T c.43G>T (p.Val15Leu) c.203G>T (p.Gly68Val) | dbSNP |
17 | g.41624262C= | CA2260105484 | KRT17 | c.248G= (p.Gly83=) c.-312-56G= (n.-312-56G=) n.314G= n.35G= c.43G= (p.Val15=) c.203G= (p.Gly68=) | |
17 | g.41624262C>G | CA399512673 | KRT17 | c.248G>C (p.Gly83Ala) c.-312-56G>C (n.-312-56G>C) n.314G>C n.35G>C c.43G>C (p.Val15Leu) c.203G>C (p.Gly68Ala) | |
17 | g.41624262C>T | CA399512672 | KRT17 | c.248G>A (p.Gly83Asp) c.-312-56G>A (n.-312-56G>A) n.314G>A n.35G>A c.43G>A (p.Val15Met) c.203G>A (p.Gly68Asp) | |
17 | g.41624263C>A | CA399512676 | KRT17 | c.247G>T (p.Gly83Cys) c.-312-57G>T (n.-312-57G>T) n.313G>T n.34G>T c.42G>T (p.Glu14Asp) c.202G>T (p.Gly68Cys) | |
17 | g.41624263C= | CA2260105485 | KRT17 | c.247G= (p.Gly83=) c.-312-57G= (n.-312-57G=) n.313G= n.34G= c.42G= (p.Glu14=) c.202G= (p.Gly68=) | |
17 | g.41624263C>G | CA399512678 | KRT17 | c.247G>C (p.Gly83Arg) c.-312-57G>C (n.-312-57G>C) n.313G>C n.34G>C c.42G>C (p.Glu14Asp) c.202G>C (p.Gly68Arg) | |
17 | g.41624263C>T | CA399512680 | KRT17 | c.247G>A (p.Gly83Ser) c.-312-57G>A (n.-312-57G>A) n.313G>A n.34G>A c.42G>A (p.Glu14=) c.202G>A (p.Gly68Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41624264T>A | CA399512683 | KRT17 | c.246A>T (p.Gly82=) c.-312-58A>T (n.-312-58A>T) n.312A>T n.33A>T c.41A>T (p.Glu14Val) c.201A>T (p.Gly67=) | |
17 | g.41624264T>C | CA399512685 | KRT17 | c.246A>G (p.Gly82=) c.-312-58A>G (n.-312-58A>G) n.312A>G n.33A>G c.41A>G (p.Glu14Gly) c.201A>G (p.Gly67=) | |
17 | g.41624264T>G | CA399512687 | KRT17 | c.246A>C (p.Gly82=) c.-312-58A>C (n.-312-58A>C) n.312A>C n.33A>C c.41A>C (p.Glu14Ala) c.201A>C (p.Gly67=) | |
17 | g.41624265C>A | CA399512689 | KRT17 | c.245G>T (p.Gly82Val) c.-312-59G>T (n.-312-59G>T) n.311G>T n.32G>T c.40G>T (p.Glu14Ter) c.200G>T (p.Gly67Val) | |
17 | g.41624265C= | CA2260105486 | KRT17 | c.245G= (p.Gly82=) c.-312-59G= (n.-312-59G=) n.311G= n.32G= c.40G= (p.Glu14=) c.200G= (p.Gly67=) | |
17 | g.41624265C>G | CA399512691 | KRT17 | c.245G>C (p.Gly82Ala) c.-312-59G>C (n.-312-59G>C) n.311G>C n.32G>C c.40G>C (p.Glu14Gln) c.200G>C (p.Gly67Ala) | |
17 | g.41624265C>T | CA399512692 | KRT17 | c.245G>A (p.Gly82Glu) c.-312-59G>A (n.-312-59G>A) n.311G>A n.32G>A c.40G>A (p.Glu14Lys) c.200G>A (p.Gly67Glu) | dbSNP gnomAD v4 |
17 | g.41624266C>A | CA399512697 | KRT17 | c.244G>T (p.Gly82Ter) c.-312-60G>T (n.-312-60G>T) n.310G>T n.31G>T c.39G>T (p.Leu13=) c.199G>T (p.Gly67Ter) | |
17 | g.41624266C>G | CA399512696 | KRT17 | c.244G>C (p.Gly82Arg) c.-312-60G>C (n.-312-60G>C) n.310G>C n.31G>C c.39G>C (p.Leu13=) c.199G>C (p.Gly67Arg) | |
17 | g.41624266C>T | CA399512694 | KRT17 | c.244G>A (p.Gly82Arg) c.-312-60G>A (n.-312-60G>A) n.310G>A n.31G>A c.39G>A (p.Leu13=) c.199G>A (p.Gly67Arg) | ClinVar COSMIC |
17 | g.41624267A= | CA2260105487 | KRT17 | c.243T= (p.Ala81=) c.-312-61T= (n.-312-61T=) n.309T= n.30T= c.38T= (p.Leu13=) c.198T= (p.Ala66=) | |
17 | g.41624267A>C | CA399512701 | KRT17 | c.243T>G (p.Ala81=) c.-312-61T>G (n.-312-61T>G) n.309T>G n.30T>G c.38T>G (p.Leu13Arg) c.198T>G (p.Ala66=) | gnomAD v4 |
17 | g.41624267A>G | CA8563806 | KRT17 | c.243T>C (p.Ala81=) c.-312-61T>C (n.-312-61T>C) n.309T>C n.30T>C c.38T>C (p.Leu13Pro) c.198T>C (p.Ala66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41624267A>T | CA399512705 | KRT17 | c.243T>A (p.Ala81=) c.-312-61T>A (n.-312-61T>A) n.309T>A n.30T>A c.38T>A (p.Leu13Gln) c.198T>A (p.Ala66=) | |
17 | g.41624267_41624268delinsGA | CA2580617964 | KRT17 | c.242_243delinsTC (p.Ala81Val) c.-312-62_-312-61delinsTC (n.-312-62_-312-61delinsTC) n.308_309delinsTC n.29_30delinsTC c.37_38delinsTC (p.Leu13Ser) c.197_198delinsTC (p.Ala66Val) | ClinVar |
17 | g.41624268G>A | CA8563808 | KRT17 | c.242C>T (p.Ala81Val) c.-312-62C>T (n.-312-62C>T) n.308C>T n.29C>T c.37C>T (p.Leu13=) c.197C>T (p.Ala66Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41624268G>C | CA399512709 | KRT17 | c.242C>G (p.Ala81Gly) c.-312-62C>G (n.-312-62C>G) n.308C>G n.29C>G c.37C>G (p.Leu13Val) c.197C>G (p.Ala66Gly) | gnomAD v4 |
17 | g.41624268G= | CA2260105488 | KRT17 | c.242C= (p.Ala81=) c.-312-62C= (n.-312-62C=) n.308C= n.29C= c.37C= (p.Leu13=) c.197C= (p.Ala66=) | |
17 | g.41624268G>T | CA8563807 | KRT17 | c.242C>A (p.Ala81Asp) c.-312-62C>A (n.-312-62C>A) n.308C>A n.29C>A c.37C>A (p.Leu13Met) c.197C>A (p.Ala66Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624269C>A | CA399512713 | KRT17 | c.241G>T (p.Ala81Ser) c.-312-63G>T (n.-312-63G>T) n.307G>T n.28G>T c.36G>T (p.Trp12Cys) c.196G>T (p.Ala66Ser) | |
17 | g.41624269C>G | CA399512718 | KRT17 | c.241G>C (p.Ala81Pro) c.-312-63G>C (n.-312-63G>C) n.307G>C n.28G>C c.36G>C (p.Trp12Cys) c.196G>C (p.Ala66Pro) | |
17 | g.41624269C>T | CA399512720 | KRT17 | c.241G>A (p.Ala81Thr) c.-312-63G>A (n.-312-63G>A) n.307G>A n.28G>A c.36G>A (p.Trp12Ter) c.196G>A (p.Ala66Thr) | gnomAD v4 COSMIC |
17 | g.41624270C>A | CA399512722 | KRT17 | c.240G>T (p.Leu80=) c.-312-64G>T (n.-312-64G>T) n.306G>T n.27G>T c.35G>T (p.Trp12Leu) c.195G>T (p.Leu65=) | |
17 | g.41624270C= | CA2260105489 | KRT17 | c.240G= (p.Leu80=) c.-312-64G= (n.-312-64G=) n.306G= n.27G= c.35G= (p.Trp12=) c.195G= (p.Leu65=) | |
17 | g.41624270C>G | CA8563809 | KRT17 | c.240G>C (p.Leu80=) c.-312-64G>C (n.-312-64G>C) n.306G>C n.27G>C c.35G>C (p.Trp12Ser) c.195G>C (p.Leu65=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624270C>T | CA399512725 | KRT17 | c.240G>A (p.Leu80=) c.-312-64G>A (n.-312-64G>A) n.306G>A n.27G>A c.35G>A (p.Trp12Ter) c.195G>A (p.Leu65=) | |
17 | g.41624271A= | CA2260105490 | KRT17 | c.239T= (p.Leu80=) c.-312-65T= (n.-312-65T=) n.305T= n.26T= c.34T= (p.Trp12=) c.194T= (p.Leu65=) | |
17 | g.41624271A>C | CA399512732 | KRT17 | c.239T>G (p.Leu80Arg) c.-312-65T>G (n.-312-65T>G) n.305T>G n.26T>G c.34T>G (p.Trp12Gly) c.194T>G (p.Leu65Arg) | |
17 | g.41624271A>G | CA399512728 | KRT17 | c.239T>C (p.Leu80Pro) c.-312-65T>C (n.-312-65T>C) n.305T>C n.26T>C c.34T>C (p.Trp12Arg) c.194T>C (p.Leu65Pro) | dbSNP |
17 | g.41624271A>T | CA399512729 | KRT17 | c.239T>A (p.Leu80Gln) c.-312-65T>A (n.-312-65T>A) n.305T>A n.26T>A c.34T>A (p.Trp12Arg) c.194T>A (p.Leu65Gln) | |
17 | g.41624272G>A | CA500206450 | KRT17 | c.238C>T (p.Leu80=) c.-312-66C>T (n.-312-66C>T) n.304C>T n.25C>T c.33C>T (p.Cys11=) c.193C>T (p.Leu65=) | |
17 | g.41624272G>C | CA399512733 | KRT17 | c.238C>G (p.Leu80Val) c.-312-66C>G (n.-312-66C>G) n.304C>G n.25C>G c.33C>G (p.Cys11Trp) c.193C>G (p.Leu65Val) | |
17 | g.41624272G>T | CA399512735 | KRT17 | c.238C>A (p.Leu80Met) c.-312-66C>A (n.-312-66C>A) n.304C>A n.25C>A c.33C>A (p.Cys11Ter) c.193C>A (p.Leu65Met) | |
17 | g.41624272_41624273delinsGC | CA2260105491 | KRT17 | c.237_238delinsGC (p.Leu79=) c.-312-67_-312-66delinsGC (n.-312-67_-312-66delinsGC) n.303_304delinsGC n.24_25delinsGC c.32_33delinsGC (p.Cys11=) c.192_193delinsGC (p.Leu64=) | |
17 | g.41624273del | CA8563810 | KRT17 | c.237del (p.Leu80TrpfsTer?) c.-312-67del (n.-312-67del) n.303del n.24del c.32del (p.Cys11SerfsTer5) c.192del (p.Leu65TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624273C>A | CA399512740 | KRT17 | c.237G>T (p.Leu79=) c.-312-67G>T (n.-312-67G>T) n.303G>T n.24G>T c.32G>T (p.Cys11Phe) c.192G>T (p.Leu64=) | |
17 | g.41624273C= | CA2260105492 | KRT17 | c.237G= (p.Leu79=) c.-312-67G= (n.-312-67G=) n.303G= n.24G= c.32G= (p.Cys11=) c.192G= (p.Leu64=) | |
17 | g.41624273C>G | CA399512742 | KRT17 | c.237G>C (p.Leu79=) c.-312-67G>C (n.-312-67G>C) n.303G>C n.24G>C c.32G>C (p.Cys11Ser) c.192G>C (p.Leu64=) | |
17 | g.41624273C>T | CA399512744 | KRT17 | c.237G>A (p.Leu79=) c.-312-67G>A (n.-312-67G>A) n.303G>A n.24G>A c.32G>A (p.Cys11Tyr) c.192G>A (p.Leu64=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624274A>C | CA399512748 | KRT17 | c.236T>G (p.Leu79Arg) c.-312-68T>G (n.-312-68T>G) n.302T>G n.23T>G c.31T>G (p.Cys11Gly) c.191T>G (p.Leu64Arg) | |
17 | g.41624274A>G | CA399512750 | KRT17 | c.236T>C (p.Leu79Pro) c.-312-68T>C (n.-312-68T>C) n.302T>C n.23T>C c.31T>C (p.Cys11Arg) c.191T>C (p.Leu64Pro) | |
17 | g.41624274A>T | CA399512751 | KRT17 | c.236T>A (p.Leu79Gln) c.-312-68T>A (n.-312-68T>A) n.302T>A n.23T>A c.31T>A (p.Cys11Ser) c.191T>A (p.Leu64Gln) | |
17 | g.41624275G>A | CA500206456 | KRT17 | c.235C>T (p.Leu79=) c.-312-69C>T (n.-312-69C>T) n.301C>T n.22C>T c.30C>T (p.Gly10=) c.190C>T (p.Leu64=) | gnomAD v4 |
17 | g.41624275G>C | CA399512754 | KRT17 | c.235C>G (p.Leu79Val) c.-312-69C>G (n.-312-69C>G) n.301C>G n.22C>G c.30C>G (p.Gly10=) c.190C>G (p.Leu64Val) | |
17 | g.41624275G= | CA2260105493 | KRT17 | c.235C= (p.Leu79=) c.-312-69C= (n.-312-69C=) n.301C= n.22C= c.30C= (p.Gly10=) c.190C= (p.Leu64=) | |
17 | g.41624275G>T | CA290686138 | KRT17 | c.235C>A (p.Leu79Met) c.-312-69C>A (n.-312-69C>A) n.301C>A n.22C>A c.30C>A (p.Gly10=) c.190C>A (p.Leu64Met) | dbSNP gnomAD v2 |
17 | g.41624276C>A | CA399512760 | KRT17 | c.234G>T (p.Gly78=) c.-312-70G>T (n.-312-70G>T) n.300G>T n.21G>T c.29G>T (p.Gly10Val) c.189G>T (p.Gly63=) | |
17 | g.41624276C= | CA2260105494 | KRT17 | c.234G= (p.Gly78=) c.-312-70G= (n.-312-70G=) n.300G= n.21G= c.29G= (p.Gly10=) c.189G= (p.Gly63=) | |
17 | g.41624276C>G | CA399512763 | KRT17 | c.234G>C (p.Gly78=) c.-312-70G>C (n.-312-70G>C) n.300G>C n.21G>C c.29G>C (p.Gly10Ala) c.189G>C (p.Gly63=) | |
17 | g.41624276C>T | CA399512759 | KRT17 | c.234G>A (p.Gly78=) c.-312-70G>A (n.-312-70G>A) n.300G>A n.21G>A c.29G>A (p.Gly10Asp) c.189G>A (p.Gly63=) | dbSNP gnomAD v4 |
17 | g.41624277_41624284dup | CA2637840893 | KRT17 | c.227_234dup (p.Leu80MetfsTer?) c.-312-77_-312-70dup (n.-312-77_-312-70dup) n.293_300dup n.14_21dup c.22_29dup (p.Cys11Ter) c.182_189dup (p.Leu65MetfsTer?) | gnomAD v4 |
17 | g.41624277C>A | CA399512769 | KRT17 | c.233G>T (p.Gly78Val) c.-312-71G>T (n.-312-71G>T) n.299G>T n.20G>T c.28G>T (p.Gly10Cys) c.188G>T (p.Gly63Val) | |
17 | g.41624277C= | CA2260105495 | KRT17 | c.233G= (p.Gly78=) c.-312-71G= (n.-312-71G=) n.299G= n.20G= c.28G= (p.Gly10=) c.188G= (p.Gly63=) | |
17 | g.41624277C>G | CA290686141 | KRT17 | c.233G>C (p.Gly78Ala) c.-312-71G>C (n.-312-71G>C) n.299G>C n.20G>C c.28G>C (p.Gly10Arg) c.188G>C (p.Gly63Ala) | dbSNP |
17 | g.41624277C>T | CA8563811 | KRT17 | c.233G>A (p.Gly78Glu) c.-312-71G>A (n.-312-71G>A) n.299G>A n.20G>A c.28G>A (p.Gly10Ser) c.188G>A (p.Gly63Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624278C>A | CA399512771 | KRT17 | c.232G>T (p.Gly78Trp) c.-312-72G>T (n.-312-72G>T) n.298G>T n.19G>T c.27G>T (p.Met9Ile) c.187G>T (p.Gly63Trp) | |
17 | g.41624278C>G | CA399512772 | KRT17 | c.232G>C (p.Gly78Arg) c.-312-72G>C (n.-312-72G>C) n.298G>C n.19G>C c.27G>C (p.Met9Ile) c.187G>C (p.Gly63Arg) | |
17 | g.41624278C>T | CA399512774 | KRT17 | c.232G>A (p.Gly78Arg) c.-312-72G>A (n.-312-72G>A) n.298G>A n.19G>A c.27G>A (p.Met9Ile) c.187G>A (p.Gly63Arg) | |
17 | g.41624279A= | CA2260105496 | KRT17 | c.231T= (p.Asp77=) c.-312-73T= (n.-312-73T=) n.297T= n.18T= c.26T= (p.Met9=) c.186T= (p.Asp62=) | |
17 | g.41624279A>C | CA399512777 | KRT17 | c.231T>G (p.Asp77Glu) c.-312-73T>G (n.-312-73T>G) n.297T>G n.18T>G c.26T>G (p.Met9Arg) c.186T>G (p.Asp62Glu) | |
17 | g.41624279A>G | CA290686146 | KRT17 | c.231T>C (p.Asp77=) c.-312-73T>C (n.-312-73T>C) n.297T>C n.18T>C c.26T>C (p.Met9Thr) c.186T>C (p.Asp62=) | dbSNP gnomAD v4 |
17 | g.41624279A>T | CA399512780 | KRT17 | c.231T>A (p.Asp77Glu) c.-312-73T>A (n.-312-73T>A) n.297T>A n.18T>A c.26T>A (p.Met9Lys) c.186T>A (p.Asp62Glu) | |
17 | g.41624280T>A | CA399512784 | KRT17 | c.230A>T (p.Asp77Val) c.-312-74A>T (n.-312-74A>T) n.296A>T n.17A>T c.25A>T (p.Met9Leu) c.185A>T (p.Asp62Val) | |
17 | g.41624280T>C | CA399512786 | KRT17 | c.230A>G (p.Asp77Gly) c.-312-74A>G (n.-312-74A>G) n.296A>G n.17A>G c.25A>G (p.Met9Val) c.185A>G (p.Asp62Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41624280T>G | CA399512788 | KRT17 | c.230A>C (p.Asp77Ala) c.-312-74A>C (n.-312-74A>C) n.296A>C n.17A>C c.25A>C (p.Met9Leu) c.185A>C (p.Asp62Ala) | gnomAD v4 |
17 | g.41624280T= | CA2260105497 | KRT17 | c.230A= (p.Asp77=) c.-312-74A= (n.-312-74A=) n.296A= n.17A= c.25A= (p.Met9=) c.185A= (p.Asp62=) | |
17 | g.41624281C>A | CA399512795 | KRT17 | c.229G>T (p.Asp77Tyr) c.-312-75G>T (n.-312-75G>T) n.295G>T n.16G>T c.24G>T (p.Leu8Phe) c.184G>T (p.Asp62Tyr) | |
17 | g.41624281C>G | CA399512794 | KRT17 | c.229G>C (p.Asp77His) c.-312-75G>C (n.-312-75G>C) n.295G>C n.16G>C c.24G>C (p.Leu8Phe) c.184G>C (p.Asp62His) | |
17 | g.41624281C>T | CA399512791 | KRT17 | c.229G>A (p.Asp77Asn) c.-312-75G>A (n.-312-75G>A) n.295G>A n.16G>A c.24G>A (p.Leu8=) c.184G>A (p.Asp62Asn) | |
17 | g.41624282A>C | CA399512798 | KRT17 | c.228T>G (p.Val76=) c.-312-76T>G (n.-312-76T>G) n.294T>G n.15T>G c.23T>G (p.Leu8Trp) c.183T>G (p.Val61=) | |
17 | g.41624282A>G | CA399512801 | KRT17 | c.228T>C (p.Val76=) c.-312-76T>C (n.-312-76T>C) n.294T>C n.15T>C c.23T>C (p.Leu8Ser) c.183T>C (p.Val61=) | |
17 | g.41624282A>T | CA399512803 | KRT17 | c.228T>A (p.Val76=) c.-312-76T>A (n.-312-76T>A) n.294T>A n.15T>A c.23T>A (p.Leu8Ter) c.183T>A (p.Val61=) | |
17 | g.41624283A= | CA2260105498 | KRT17 | c.227T= (p.Val76=) c.-312-77T= (n.-312-77T=) n.293T= n.14T= c.22T= (p.Leu8=) c.182T= (p.Val61=) | |
17 | g.41624283A>C | CA399512805 | KRT17 | c.227T>G (p.Val76Gly) c.-312-77T>G (n.-312-77T>G) n.293T>G n.14T>G c.22T>G (p.Leu8Val) c.182T>G (p.Val61Gly) | dbSNP |
17 | g.41624283A>G | CA399512806 | KRT17 | c.227T>C (p.Val76Ala) c.-312-77T>C (n.-312-77T>C) n.293T>C n.14T>C c.22T>C (p.Leu8=) c.182T>C (p.Val61Ala) | gnomAD v4 |
17 | g.41624283A>T | CA399512808 | KRT17 | c.227T>A (p.Val76Asp) c.-312-77T>A (n.-312-77T>A) n.293T>A n.14T>A c.22T>A (p.Leu8Met) c.182T>A (p.Val61Asp) | |
17 | g.41624284C>A | CA399512811 | KRT17 | c.226G>T (p.Val76Phe) c.-312-78G>T (n.-312-78G>T) n.292G>T n.13G>T c.21G>T (p.Val7=) c.181G>T (p.Val61Phe) | |
17 | g.41624284C= | CA2260105499 | KRT17 | c.226G= (p.Val76=) c.-312-78G= (n.-312-78G=) n.292G= n.13G= c.21G= (p.Val7=) c.181G= (p.Val61=) | |
17 | g.41624284C>G | CA399512813 | KRT17 | c.226G>C (p.Val76Leu) c.-312-78G>C (n.-312-78G>C) n.292G>C n.13G>C c.21G>C (p.Val7=) c.181G>C (p.Val61Leu) | |
17 | g.41624284C>T | CA399512815 | KRT17 | c.226G>A (p.Val76Ile) c.-312-78G>A (n.-312-78G>A) n.292G>A n.13G>A c.21G>A (p.Val7=) c.181G>A (p.Val61Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624285A= | CA2260105501 | KRT17 | c.225T= (p.Gly75=) c.-312-79T= (n.-312-79T=) n.291T= n.12T= c.20T= (p.Val7=) c.180T= (p.Gly60=) | |
17 | g.41624285A>C | CA399512817 | KRT17 | c.225T>G (p.Gly75=) c.-312-79T>G (n.-312-79T>G) n.291T>G n.12T>G c.20T>G (p.Val7Gly) c.180T>G (p.Gly60=) | dbSNP |
17 | g.41624285A>G | CA8563812 | KRT17 | c.225T>C (p.Gly75=) c.-312-79T>C (n.-312-79T>C) n.291T>C n.12T>C c.20T>C (p.Val7Ala) c.180T>C (p.Gly60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624285A>T | CA399512820 | KRT17 | c.225T>A (p.Gly75=) c.-312-79T>A (n.-312-79T>A) n.291T>A n.12T>A c.20T>A (p.Val7Glu) c.180T>A (p.Gly60=) | |
17 | g.41624285_41624286delinsAC | CA2260105500 | KRT17 | c.224_225delinsGT (p.Gly75=) c.-312-80_-312-79delinsGT (n.-312-80_-312-79delinsGT) n.290_291delinsGT n.11_12delinsGT c.19_20delinsGT (p.Val7=) c.179_180delinsGT (p.Gly60=) | |
17 | g.41624286C>A | CA399512823 | KRT17 | c.224G>T (p.Gly75Val) c.-312-80G>T (n.-312-80G>T) n.290G>T n.11G>T c.19G>T (p.Val7Leu) c.179G>T (p.Gly60Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624286C= | CA2260105502 | KRT17 | c.224G= (p.Gly75=) c.-312-80G= (n.-312-80G=) n.290G= n.11G= c.19G= (p.Val7=) c.179G= (p.Gly60=) | |
17 | g.41624286C>G | CA399512825 | KRT17 | c.224G>C (p.Gly75Ala) c.-312-80G>C (n.-312-80G>C) n.290G>C n.11G>C c.19G>C (p.Val7Leu) c.179G>C (p.Gly60Ala) | |
17 | g.41624286C>T | CA8563813 | KRT17 | c.224G>A (p.Gly75Asp) c.-312-80G>A (n.-312-80G>A) n.290G>A n.11G>A c.19G>A (p.Val7Met) c.179G>A (p.Gly60Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624290del | CA772032189 | KRT17 | c.224del (p.Gly75ValfsTer?) c.-312-80del (n.-312-80del) n.290del n.11del c.19del (p.Val7CysfsTer2) c.179del (p.Gly60ValfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41624287C>A | CA399512827 | KRT17 | c.223G>T (p.Gly75Cys) c.-312-81G>T (n.-312-81G>T) n.289G>T n.10G>T c.18G>T (p.Gly6=) c.178G>T (p.Gly60Cys) | |
17 | g.41624287C= | CA2260105503 | KRT17 | c.223G= (p.Gly75=) c.-312-81G= (n.-312-81G=) n.289G= n.10G= c.18G= (p.Gly6=) c.178G= (p.Gly60=) | |
17 | g.41624287C>G | CA399512829 | KRT17 | c.223G>C (p.Gly75Arg) c.-312-81G>C (n.-312-81G>C) n.289G>C n.10G>C c.18G>C (p.Gly6=) c.178G>C (p.Gly60Arg) | |
17 | g.41624287C>T | CA399512832 | KRT17 | c.223G>A (p.Gly75Ser) c.-312-81G>A (n.-312-81G>A) n.289G>A n.10G>A c.18G>A (p.Gly6=) c.178G>A (p.Gly60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624288C>A | CA399512835 | KRT17 | c.222G>T (p.Gly74=) c.-312-82G>T (n.-312-82G>T) n.288G>T n.9G>T c.17G>T (p.Gly6Val) c.177G>T (p.Gly59=) | |
17 | g.41624288C= | CA2260105504 | KRT17 | c.222G= (p.Gly74=) c.-312-82G= (n.-312-82G=) n.288G= n.9G= c.17G= (p.Gly6=) c.177G= (p.Gly59=) | |
17 | g.41624288C>G | CA8563814 | KRT17 | c.222G>C (p.Gly74=) c.-312-82G>C (n.-312-82G>C) n.288G>C n.9G>C c.17G>C (p.Gly6Ala) c.177G>C (p.Gly59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624288C>T | CA399512838 | KRT17 | c.222G>A (p.Gly74=) c.-312-82G>A (n.-312-82G>A) n.288G>A n.9G>A c.17G>A (p.Gly6Glu) c.177G>A (p.Gly59=) | |
17 | g.41624289C>A | CA8563815 | KRT17 | c.221G>T (p.Gly74Val) c.-312-83G>T (n.-312-83G>T) n.287G>T n.8G>T c.16G>T (p.Gly6Trp) c.176G>T (p.Gly59Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624289C= | CA2260105505 | KRT17 | c.221G= (p.Gly74=) c.-312-83G= (n.-312-83G=) n.287G= n.8G= c.16G= (p.Gly6=) c.176G= (p.Gly59=) | |
17 | g.41624289C>G | CA399512842 | KRT17 | c.221G>C (p.Gly74Ala) c.-312-83G>C (n.-312-83G>C) n.287G>C n.8G>C c.16G>C (p.Gly6Arg) c.176G>C (p.Gly59Ala) | gnomAD v4 |
17 | g.41624289C>T | CA399512844 | KRT17 | c.221G>A (p.Gly74Glu) c.-312-83G>A (n.-312-83G>A) n.287G>A n.8G>A c.16G>A (p.Gly6Arg) c.176G>A (p.Gly59Glu) | gnomAD v4 |
17 | g.41624290C>A | CA399512847 | KRT17 | c.220G>T (p.Gly74Trp) c.-312-84G>T (n.-312-84G>T) n.286G>T n.7G>T c.15G>T (p.Leu5Phe) c.175G>T (p.Gly59Trp) | |
17 | g.41624290C= | CA2260105506 | KRT17 | c.220G= (p.Gly74=) c.-312-84G= (n.-312-84G=) n.286G= n.7G= c.15G= (p.Leu5=) c.175G= (p.Gly59=) | |
17 | g.41624290C>G | CA399512849 | KRT17 | c.220G>C (p.Gly74Arg) c.-312-84G>C (n.-312-84G>C) n.286G>C n.7G>C c.15G>C (p.Leu5Phe) c.175G>C (p.Gly59Arg) | |
17 | g.41624290C>T | CA8563816 | KRT17 | c.220G>A (p.Gly74Arg) c.-312-84G>A (n.-312-84G>A) n.286G>A n.7G>A c.15G>A (p.Leu5=) c.175G>A (p.Gly59Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624291A>C | CA399512854 | KRT17 | c.219T>G (p.Phe73Leu) c.-312-85T>G (n.-312-85T>G) n.285T>G n.6T>G c.14T>G (p.Leu5Trp) c.174T>G (p.Phe58Leu) | |
17 | g.41624291A>G | CA399512856 | KRT17 | c.219T>C (p.Phe73=) c.-312-85T>C (n.-312-85T>C) n.285T>C n.6T>C c.14T>C (p.Leu5Ser) c.174T>C (p.Phe58=) | |
17 | g.41624291A>T | CA399512853 | KRT17 | c.219T>A (p.Phe73Leu) c.-312-85T>A (n.-312-85T>A) n.285T>A n.6T>A c.14T>A (p.Leu5Ter) c.174T>A (p.Phe58Leu) | |
17 | g.41624293dup | CA626215609 | KRT17 | c.219dup (p.Gly74TrpfsTer4) c.-312-85dup (n.-312-85dup) n.285dup n.6dup c.14dup (p.Leu5PhefsTer24) c.174dup (p.Gly59TrpfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624291_41624292insCCCAAACACACCCAACAC | CA2809496903 | KRT17 | c.218_219insGTGTTGGGTGTGTTTGGG (p.Phe73delinsLeuCysTrpValCysLeuGly) c.-312-86_-312-85insGTGTTGGGTGTGTTTGGG (n.-312-86_-312-85insGTGTTGGGTGTGTTTGGG) n.284_285insGTGTTGGGTGTGTTTGGG n.5_6insGTGTTGGGTGTGTTTGGG c.13_14insGTGTTGGGTGTGTTTGGG (p.Leu5delinsCysValGlyCysValTrpVal) c.173_174insGTGTTGGGTGTGTTTGGG (p.Phe58delinsLeuCysTrpValCysLeuGly) | |
17 | g.41624292A>C | CA399512858 | KRT17 | c.218T>G (p.Phe73Cys) c.-312-86T>G (n.-312-86T>G) n.284T>G n.5T>G c.13T>G (p.Leu5Val) c.173T>G (p.Phe58Cys) | |
17 | g.41624292A>G | CA399512861 | KRT17 | c.218T>C (p.Phe73Ser) c.-312-86T>C (n.-312-86T>C) n.284T>C n.5T>C c.13T>C (p.Leu5=) c.173T>C (p.Phe58Ser) | |
17 | g.41624292A>T | CA399512863 | KRT17 | c.218T>A (p.Phe73Tyr) c.-312-86T>A (n.-312-86T>A) n.284T>A n.5T>A c.13T>A (p.Leu5Met) c.173T>A (p.Phe58Tyr) | |
17 | g.41624293A= | CA2260105507 | KRT17 | c.217T= (p.Phe73=) c.-312-87T= (n.-312-87T=) n.283T= n.4T= c.12T= (p.Ala4=) c.172T= (p.Phe58=) | |
17 | g.41624293A>C | CA399512866 | KRT17 | c.217T>G (p.Phe73Val) c.-312-87T>G (n.-312-87T>G) n.283T>G n.4T>G c.12T>G (p.Ala4=) c.172T>G (p.Phe58Val) | |
17 | g.41624293A>G | CA399512869 | KRT17 | c.217T>C (p.Phe73Leu) c.-312-87T>C (n.-312-87T>C) n.283T>C n.4T>C c.12T>C (p.Ala4=) c.172T>C (p.Phe58Leu) | |
17 | g.41624293A>T | CA399512871 | KRT17 | c.217T>A (p.Phe73Ile) c.-312-87T>A (n.-312-87T>A) n.283T>A n.4T>A c.12T>A (p.Ala4=) c.172T>A (p.Phe58Ile) | |
17 | g.41624294G>A | CA399512880 | KRT17 | c.216C>T (p.Ser72=) c.-312-88C>T (n.-312-88C>T) n.282C>T n.3C>T c.11C>T (p.Ala4Val) c.171C>T (p.Ser57=) | |
17 | g.41624294G>C | CA399512878 | KRT17 | c.216C>G (p.Ser72Arg) c.-312-88C>G (n.-312-88C>G) n.282C>G n.3C>G c.11C>G (p.Ala4Gly) c.171C>G (p.Ser57Arg) | |
17 | g.41624294G>T | CA399512876 | KRT17 | c.216C>A (p.Ser72Arg) c.-312-88C>A (n.-312-88C>A) n.282C>A n.3C>A c.11C>A (p.Ala4Asp) c.171C>A (p.Ser57Arg) | |
17 | g.41624294dup | CA399512882 | KRT17 | c.216dup (p.Phe73LeufsTer5) c.-312-88dup (n.-312-88dup) n.282dup n.3dup c.11dup (p.Leu5PhefsTer24) c.171dup (p.Phe58LeufsTer5) | dbSNP |
17 | g.41624299_41624301dup | CA8563817 | KRT17 | c.214_216dup (p.Ser72_Phe73insSer) c.-312-90_-312-88dup (n.-312-90_-312-88dup) n.280_282dup c.9_11dup (p.Ala4_Leu5insAla) c.169_171dup (p.Ser57_Phe58insSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41624295C>A | CA399512885 | KRT17 | c.215G>T (p.Ser72Ile) c.-312-89G>T (n.-312-89G>T) n.281G>T n.2G>T c.10G>T (p.Ala4Ser) c.170G>T (p.Ser57Ile) | |
17 | g.41624295C>G | CA399512886 | KRT17 | c.215G>C (p.Ser72Thr) c.-312-89G>C (n.-312-89G>C) n.281G>C n.2G>C c.10G>C (p.Ala4Pro) c.170G>C (p.Ser57Thr) | |
17 | g.41624295C>T | CA399512888 | KRT17 | c.215G>A (p.Ser72Asn) c.-312-89G>A (n.-312-89G>A) n.281G>A n.2G>A c.10G>A (p.Ala4Thr) c.170G>A (p.Ser57Asn) | gnomAD v4 |
17 | g.41624295_41624296delinsCT | CA2260105508 | KRT17 | c.214_215delinsAG (p.Ser72=) c.-312-90_-312-89delinsAG (n.-312-90_-312-89delinsAG) n.280_281delinsAG n.1_2delinsAG c.9_10delinsAG (p.Ala3=) c.169_170delinsAG (p.Ser57=) | |
17 | g.41624296del | CA626215610 | KRT17 | c.214del (p.Ser72AlafsTer?) c.-312-90del (n.-312-90del) n.280del n.1del c.9del (p.Ala4LeufsTer5) c.169del (p.Ser57AlafsTer?) | dbSNP gnomAD v2 |
17 | g.41624296T>A | CA399512893 | KRT17 | c.214A>T (p.Ser72Cys) c.-312-90A>T (n.-312-90A>T) n.280A>T n.1A>T c.9A>T (p.Ala3=) c.169A>T (p.Ser57Cys) | |
17 | g.41624296T>C | CA399512891 | KRT17 | c.214A>G (p.Ser72Gly) c.-312-90A>G (n.-312-90A>G) n.280A>G n.1A>G c.9A>G (p.Ala3=) c.169A>G (p.Ser57Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624296T>G | CA399512889 | KRT17 | c.214A>C (p.Ser72Arg) c.-312-90A>C (n.-312-90A>C) n.280A>C n.1A>C c.9A>C (p.Ala3=) c.169A>C (p.Ser57Arg) | |
17 | g.41624296T= | CA2260105509 | KRT17 | c.214A= (p.Ser72=) c.-312-90A= (n.-312-90A=) n.280A= n.1A= c.9A= (p.Ala3=) c.169A= (p.Ser57=) | |
17 | g.41624297G>A | CA399512896 | KRT17 | c.213C>T (p.Ser71=) c.-312-91C>T (n.-312-91C>T) n.279C>T c.8C>T (p.Ala3Val) c.168C>T (p.Ser56=) | |
17 | g.41624297G>C | CA399512900 | KRT17 | c.213C>G (p.Ser71Arg) c.-312-91C>G (n.-312-91C>G) n.279C>G c.8C>G (p.Ala3Gly) c.168C>G (p.Ser56Arg) | gnomAD v4 |
17 | g.41624297G= | CA2260105510 | KRT17 | c.213C= (p.Ser71=) c.-312-91C= (n.-312-91C=) n.279C= c.8C= (p.Ala3=) c.168C= (p.Ser56=) | |
17 | g.41624297G>T | CA8563818 | KRT17 | c.213C>A (p.Ser71Arg) c.-312-91C>A (n.-312-91C>A) n.279C>A c.8C>A (p.Ala3Glu) c.168C>A (p.Ser56Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41624298C>A | CA399512902 | KRT17 | c.212G>T (p.Ser71Ile) c.-312-92G>T (n.-312-92G>T) n.278G>T c.7G>T (p.Ala3Ser) c.167G>T (p.Ser56Ile) | |
17 | g.41624298C>G | CA399512906 | KRT17 | c.212G>C (p.Ser71Thr) c.-312-92G>C (n.-312-92G>C) n.278G>C c.7G>C (p.Ala3Pro) c.167G>C (p.Ser56Thr) | |
17 | g.41624298C>T | CA399512904 | KRT17 | c.212G>A (p.Ser71Asn) c.-312-92G>A (n.-312-92G>A) n.278G>A c.7G>A (p.Ala3Thr) c.167G>A (p.Ser56Asn) | |
17 | g.41624299T>A | CA399512909 | KRT17 | c.211A>T (p.Ser71Cys) c.-312-93A>T (n.-312-93A>T) n.277A>T c.6A>T (p.Ala2=) c.166A>T (p.Ser56Cys) | |
17 | g.41624299T>C | CA399512911 | KRT17 | c.211A>G (p.Ser71Gly) c.-312-93A>G (n.-312-93A>G) n.277A>G c.6A>G (p.Ala2=) c.166A>G (p.Ser56Gly) | |
17 | g.41624299T>G | CA399512912 | KRT17 | c.211A>C (p.Ser71Arg) c.-312-93A>C (n.-312-93A>C) n.277A>C c.6A>C (p.Ala2=) c.166A>C (p.Ser56Arg) | |
17 | g.41624300G>A | CA399512914 | KRT17 | c.210C>T (p.Gly70=) c.-312-94C>T (n.-312-94C>T) n.276C>T c.5C>T (p.Ala2Val) c.165C>T (p.Gly55=) | gnomAD v4 |
17 | g.41624300G>C | CA399512915 | KRT17 | c.210C>G (p.Gly70=) c.-312-94C>G (n.-312-94C>G) n.276C>G c.5C>G (p.Ala2Gly) c.165C>G (p.Gly55=) | |
17 | g.41624300G>T | CA399512916 | KRT17 | c.210C>A (p.Gly70=) c.-312-94C>A (n.-312-94C>A) n.276C>A c.5C>A (p.Ala2Glu) c.165C>A (p.Gly55=) | |
17 | g.41624301C>A | CA399512919 | KRT17 | c.209G>T (p.Gly70Val) c.-312-95G>T (n.-312-95G>T) n.275G>T c.4G>T (p.Ala2Ser) c.164G>T (p.Gly55Val) | |
17 | g.41624301C>G | CA399512921 | KRT17 | c.209G>C (p.Gly70Ala) c.-312-95G>C (n.-312-95G>C) n.275G>C c.4G>C (p.Ala2Pro) c.164G>C (p.Gly55Ala) | |
17 | g.41624301C>T | CA399512923 | KRT17 | c.209G>A (p.Gly70Asp) c.-312-95G>A (n.-312-95G>A) n.275G>A c.4G>A (p.Ala2Thr) c.164G>A (p.Gly55Asp) | COSMIC |
17 | g.41624302C>A | CA399512926 | KRT17 | c.208G>T (p.Gly70Cys) c.-312-96G>T (n.-312-96G>T) n.274G>T c.3G>T (p.Met1Ile) c.163G>T (p.Gly55Cys) | |
17 | g.41624302C= | CA2260105511 | KRT17 | c.208G= (p.Gly70=) c.-312-96G= (n.-312-96G=) n.274G= c.3G= (p.Met1=) c.163G= (p.Gly55=) | |
17 | g.41624302C>G | CA399512933 | KRT17 | c.208G>C (p.Gly70Arg) c.-312-96G>C (n.-312-96G>C) n.274G>C c.3G>C (p.Met1Ile) c.163G>C (p.Gly55Arg) | |
17 | g.41624302C>T | CA399512934 | KRT17 | c.208G>A (p.Gly70Ser) c.-312-96G>A (n.-312-96G>A) n.274G>A c.3G>A (p.Met1Ile) c.163G>A (p.Gly55Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624303A>C | CA399512937 | KRT17 | c.207T>G (p.Tyr69Ter) c.-312-97T>G (n.-312-97T>G) n.273T>G c.2T>G (p.Met1Arg) c.162T>G (p.Tyr54Ter) | |
17 | g.41624303A>G | CA399512941 | KRT17 | c.207T>C (p.Tyr69=) c.-312-97T>C (n.-312-97T>C) n.273T>C c.2T>C (p.Met1Thr) c.162T>C (p.Tyr54=) | |
17 | g.41624303A>T | CA399512939 | KRT17 | c.207T>A (p.Tyr69Ter) c.-312-97T>A (n.-312-97T>A) n.273T>A c.2T>A (p.Met1Lys) c.162T>A (p.Tyr54Ter) | |
17 | g.41624304T>A | CA399512944 | KRT17 | c.206A>T (p.Tyr69Phe) c.-312-98A>T (n.-312-98A>T) n.272A>T c.1A>T (p.Met1Leu) c.161A>T (p.Tyr54Phe) | dbSNP |
17 | g.41624304T>C | CA399512946 | KRT17 | c.206A>G (p.Tyr69Cys) c.-312-98A>G (n.-312-98A>G) n.272A>G c.1A>G (p.Met1Val) c.161A>G (p.Tyr54Cys) | gnomAD v4 |
17 | g.41624304T>G | CA399512948 | KRT17 | c.206A>C (p.Tyr69Ser) c.-312-98A>C (n.-312-98A>C) n.272A>C c.1A>C (p.Met1Leu) c.161A>C (p.Tyr54Ser) | |
17 | g.41624304T= | CA2260105512 | KRT17 | c.206A= (p.Tyr69=) c.-312-98A= (n.-312-98A=) n.272A= c.1A= (p.Met1=) c.161A= (p.Tyr54=) | |
17 | g.41624305A>C | CA399512951 | KRT17 | c.205T>G (p.Tyr69Asp) c.-312-99T>G (n.-312-99T>G) n.271T>G c.-1T>G (n.-1T>G) c.160T>G (p.Tyr54Asp) | |
17 | g.41624305A>G | CA399512953 | KRT17 | c.205T>C (p.Tyr69His) c.-312-99T>C (n.-312-99T>C) n.271T>C c.-1T>C (n.-1T>C) c.160T>C (p.Tyr54His) | |
17 | g.41624305A>T | CA399512955 | KRT17 | c.205T>A (p.Tyr69Asn) c.-312-99T>A (n.-312-99T>A) n.271T>A c.-1T>A (n.-1T>A) c.160T>A (p.Tyr54Asn) | |
17 | g.41624306G>A | CA500206604 | KRT17 | c.204C>T (p.Gly68=) c.-312-100C>T (n.-312-100C>T) n.270C>T c.-2C>T (n.-2C>T) c.159C>T (p.Gly53=) | |
17 | g.41624306G>C | CA500206606 | KRT17 | c.204C>G (p.Gly68=) c.-312-100C>G (n.-312-100C>G) n.270C>G c.-2C>G (n.-2C>G) c.159C>G (p.Gly53=) | |
17 | g.41624306G>T | CA500206605 | KRT17 | c.204C>A (p.Gly68=) c.-312-100C>A (n.-312-100C>A) n.270C>A c.-2C>A (n.-2C>A) c.159C>A (p.Gly53=) | |
17 | g.41624307C>A | CA399512959 | KRT17 | c.203G>T (p.Gly68Val) c.-312-101G>T (n.-312-101G>T) n.269G>T c.-3G>T (n.-3G>T) c.158G>T (p.Gly53Val) | |
17 | g.41624307C= | CA2260105513 | KRT17 | c.203G= (p.Gly68=) c.-312-101G= (n.-312-101G=) n.269G= c.-3G= (n.-3G=) c.158G= (p.Gly53=) | |
17 | g.41624307C>G | CA399512961 | KRT17 | c.203G>C (p.Gly68Ala) c.-312-101G>C (n.-312-101G>C) n.269G>C c.-3G>C (n.-3G>C) c.158G>C (p.Gly53Ala) | |
17 | g.41624307C>T | CA8563819 | KRT17 | c.203G>A (p.Gly68Asp) c.-312-101G>A (n.-312-101G>A) n.269G>A c.-3G>A (n.-3G>A) c.158G>A (p.Gly53Asp) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.41624308C>A | CA399512970 | KRT17 | c.202G>T (p.Gly68Cys) c.-312-102G>T (n.-312-102G>T) n.268G>T c.-4G>T (n.-4G>T) c.157G>T (p.Gly53Cys) | |
17 | g.41624308C>G | CA399512967 | KRT17 | c.202G>C (p.Gly68Arg) c.-312-102G>C (n.-312-102G>C) n.268G>C c.-4G>C (n.-4G>C) c.157G>C (p.Gly53Arg) | |
17 | g.41624308C>T | CA399512966 | KRT17 | c.202G>A (p.Gly68Ser) c.-312-102G>A (n.-312-102G>A) n.268G>A c.-4G>A (n.-4G>A) c.157G>A (p.Gly53Ser) | |
17 | g.41624309A= | CA2260105514 | KRT17 | c.201T= (p.Gly67=) c.-312-103T= (n.-312-103T=) n.267T= c.-5T= (n.-5T=) c.156T= (p.Gly52=) | |
17 | g.41624309A>C | CA500206611 | KRT17 | c.201T>G (p.Gly67=) c.-312-103T>G (n.-312-103T>G) n.267T>G c.-5T>G (n.-5T>G) c.156T>G (p.Gly52=) | |
17 | g.41624309A>G | CA500206608 | KRT17 | c.201T>C (p.Gly67=) c.-312-103T>C (n.-312-103T>C) n.267T>C c.-5T>C (n.-5T>C) c.156T>C (p.Gly52=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41624309A>T | CA500206609 | KRT17 | c.201T>A (p.Gly67=) c.-312-103T>A (n.-312-103T>A) n.267T>A c.-5T>A (n.-5T>A) c.156T>A (p.Gly52=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41624310C>A | CA399512976 | KRT17 | c.200G>T (p.Gly67Val) c.-312-104G>T (n.-312-104G>T) n.266G>T c.-6G>T (n.-6G>T) c.155G>T (p.Gly52Val) | gnomAD v4 |
17 | g.41624310C>G | CA399512979 | KRT17 | c.200G>C (p.Gly67Ala) c.-312-104G>C (n.-312-104G>C) n.266G>C c.-6G>C (n.-6G>C) c.155G>C (p.Gly52Ala) | |
17 | g.41624310C>T | CA399512981 | KRT17 | c.200G>A (p.Gly67Asp) c.-312-104G>A (n.-312-104G>A) n.266G>A c.-6G>A (n.-6G>A) c.155G>A (p.Gly52Asp) | |
17 | g.41624311C>A | CA399512983 | KRT17 | c.199G>T (p.Gly67Cys) c.-312-105G>T (n.-312-105G>T) n.265G>T c.-7G>T (n.-7G>T) c.154G>T (p.Gly52Cys) | |
17 | g.41624311C>G | CA399512984 | KRT17 | c.199G>C (p.Gly67Arg) c.-312-105G>C (n.-312-105G>C) n.265G>C c.-7G>C (n.-7G>C) c.154G>C (p.Gly52Arg) | |
17 | g.41624311C>T | CA399512986 | KRT17 | c.199G>A (p.Gly67Ser) c.-312-105G>A (n.-312-105G>A) n.265G>A c.-7G>A (n.-7G>A) c.154G>A (p.Gly52Ser) | |
17 | g.41624312A= | CA2260105515 | KRT17 | c.198T= (p.Gly66=) c.-312-106T= (n.-312-106T=) n.264T= c.-8T= (n.-8T=) c.153T= (p.Gly51=) | |
17 | g.41624312A>C | CA500206615 | KRT17 | c.198T>G (p.Gly66=) c.-312-106T>G (n.-312-106T>G) n.264T>G c.-8T>G (n.-8T>G) c.153T>G (p.Gly51=) | |
17 | g.41624312A>G | CA8563820 | KRT17 | c.198T>C (p.Gly66=) c.-312-106T>C (n.-312-106T>C) n.264T>C c.-8T>C (n.-8T>C) c.153T>C (p.Gly51=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41624312A>T | CA500206618 | KRT17 | c.198T>A (p.Gly66=) c.-312-106T>A (n.-312-106T>A) n.264T>A c.-8T>A (n.-8T>A) c.153T>A (p.Gly51=) | gnomAD v4 |
17 | g.41624313C>A | CA399512993 | KRT17 | c.197G>T (p.Gly66Val) c.-312-107G>T (n.-312-107G>T) n.263G>T c.-9G>T (n.-9G>T) c.152G>T (p.Gly51Val) | |
17 | g.41624313C>G | CA399512996 | KRT17 | c.197G>C (p.Gly66Ala) c.-312-107G>C (n.-312-107G>C) n.263G>C c.-9G>C (n.-9G>C) c.152G>C (p.Gly51Ala) | gnomAD v4 |
17 | g.41624313C>T | CA399513001 | KRT17 | c.197G>A (p.Gly66Asp) c.-312-107G>A (n.-312-107G>A) n.263G>A c.-9G>A (n.-9G>A) c.152G>A (p.Gly51Asp) | gnomAD v4 |