| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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.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) |