Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418791_219418800delinsTGGAGCTGCA | CA1329209996 | DES | c.329_338delinsTGGAGCTGCA (p.Val110=) | |
2 | g.219418798_219418806del | CA658821235 | DES | c.336_344del (p.Gln113_Leu115del) | ClinVar dbSNP |
2 | g.219418797T>A | CA350685325 | DES | c.335T>A (p.Leu112Gln) | |
2 | g.219418797T>C | CA350685328 | DES | c.335T>C (p.Leu112Pro) | |
2 | g.219418797T>G | CA350685330 | DES | c.335T>G (p.Leu112Arg) | ClinVar dbSNP |
2 | g.219418797T= | CA1329209998 | DES | c.335T= (p.Leu112=) | |
2 | g.219418798G>A | CA431427521 | DES | c.336G>A (p.Leu112=) | gnomAD v4 |
2 | g.219418798G>C | CA431427522 | DES | c.336G>C (p.Leu112=) | |
2 | g.219418798G>T | CA431427523 | DES | c.336G>T (p.Leu112=) | gnomAD v4 |
2 | g.219418799C>A | CA350685333 | DES | c.337C>A (p.Gln113Lys) | gnomAD v4 |
2 | g.219418799C>G | CA350685336 | DES | c.337C>G (p.Gln113Glu) | |
2 | g.219418799C>T | CA350685338 | DES | c.337C>T (p.Gln113Ter) | gnomAD v4 |
2 | g.219418799_219418801delinsCAG | CA1329210000 | DES | c.337_339delinsCAG (p.Gln113=) | |
2 | g.219418799_219418802delinsCAGG | CA1329209999 | DES | c.337_340delinsCAGG (p.Gln113=) | |
2 | g.219418800A>C | CA350685342 | DES | c.338A>C (p.Gln113Pro) | |
2 | g.219418800A>G | CA350685345 | DES | c.338A>G (p.Gln113Arg) | |
2 | g.219418800A>T | CA350685346 | DES | c.338A>T (p.Gln113Leu) | |
2 | g.219418800_219418801del | CA217063 | DES | c.338_339del (p.Gln113ArgfsTer4) | ClinVar dbSNP |
2 | g.219418802_219418804del | CA217064 | DES | c.340_342del (p.Glu114del) | ClinVar dbSNP |
2 | g.219418801G>A | CA431427525 | DES | c.339G>A (p.Gln113=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418801G>C | CA350685357 | DES | c.339G>C (p.Gln113His) | |
2 | g.219418801G= | CA1329210001 | DES | c.339G= (p.Gln113=) | |
2 | g.219418801G>T | CA350685354 | DES | c.339G>T (p.Gln113His) | |
2 | g.219418802G>A | CA350685366 | DES | c.340G>A (p.Glu114Lys) | |
2 | g.219418802G>C | CA350685363 | DES | c.340G>C (p.Glu114Gln) | |
2 | g.219418802G>T | CA350685364 | DES | c.340G>T (p.Glu114Ter) | gnomAD v4 |
2 | g.219418803A>C | CA350685368 | DES | c.341A>C (p.Glu114Ala) | |
2 | g.219418803A>G | CA350685372 | DES | c.341A>G (p.Glu114Gly) | ClinVar dbSNP |
2 | g.219418803A>T | CA350685375 | DES | c.341A>T (p.Glu114Val) | |
2 | g.219418804G>A | CA431427529 | DES | c.342G>A (p.Glu114=) | gnomAD v4 |
2 | g.219418804G>C | CA350685378 | DES | c.342G>C (p.Glu114Asp) | |
2 | g.219418804G>T | CA350685381 | DES | c.342G>T (p.Glu114Asp) | gnomAD v4 |
2 | g.219418805C>A | CA350685384 | DES | c.343C>A (p.Leu115Ile) | ClinVar gnomAD v4 |
2 | g.219418805C= | CA1329210002 | DES | c.343C= (p.Leu115=) | |
2 | g.219418805C>G | CA350685385 | DES | c.343C>G (p.Leu115Val) | |
2 | g.219418805C>T | CA350685389 | DES | c.343C>T (p.Leu115Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418806T>A | CA350685391 | DES | c.344T>A (p.Leu115His) | |
2 | g.219418806T>C | CA350685393 | DES | c.344T>C (p.Leu115Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418806T>G | CA350685396 | DES | c.344T>G (p.Leu115Arg) | |
2 | g.219418807C>A | CA2125053 | DES | c.345C>A (p.Leu115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418807C= | CA1329210003 | DES | c.345C= (p.Leu115=) | |
2 | g.219418807C>G | CA431427533 | DES | c.345C>G (p.Leu115=) | ClinVar dbSNP |
2 | g.219418807C>T | CA431427535 | DES | c.345C>T (p.Leu115=) | |
2 | g.219418807dup | CA2573051861 | DES | c.345dup (p.Asn116GlnfsTer2) | dbSNP |
2 | g.219418808A>C | CA350685403 | DES | c.346A>C (p.Asn116His) | |
2 | g.219418808A>G | CA350685405 | DES | c.346A>G (p.Asn116Asp) | |
2 | g.219418808A>T | CA350685407 | DES | c.346A>T (p.Asn116Tyr) | |
2 | g.219418808_219418812delinsTAGT | CA2580065782 | DES | c.346_350delinsTAGT (p.Asn116Ter) | ClinVar |
2 | g.219418809A= | CA1329210004 | DES | c.347A= (p.Asn116=) | |
2 | g.219418809A>C | CA350685412 | DES | c.347A>C (p.Asn116Thr) | |
2 | g.219418809A>G | CA217067 | DES | c.347A>G (p.Asn116Ser) | ClinVar dbSNP |
2 | g.219418809A>T | CA10576588 | DES | c.347A>T (p.Asn116Ile) | ClinVar dbSNP |
2 | g.219418810T>A | CA350685418 | DES | c.348T>A (p.Asn116Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.219418810T>C | CA2125054 | DES | c.348T>C (p.Asn116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418810T>G | CA350685429 | DES | c.348T>G (p.Asn116Lys) | |
2 | g.219418810T= | CA1329210005 | DES | c.348T= (p.Asn116=) | |
2 | g.219418811G>A | CA350685432 | DES | c.349G>A (p.Asp117Asn) | gnomAD v4 |
2 | g.219418811G>C | CA350685435 | DES | c.349G>C (p.Asp117His) | ClinVar dbSNP |
2 | g.219418811G= | CA1329210006 | DES | c.349G= (p.Asp117=) | |
2 | g.219418811G>T | CA350685439 | DES | c.349G>T (p.Asp117Tyr) | gnomAD v4 |
2 | g.219418812A>C | CA350685451 | DES | c.350A>C (p.Asp117Ala) | gnomAD v4 |
2 | g.219418812A>G | CA350685455 | DES | c.350A>G (p.Asp117Gly) | gnomAD v4 |
2 | g.219418812A>T | CA350685453 | DES | c.350A>T (p.Asp117Val) | |
2 | g.219418813C>A | CA350685457 | DES | c.351C>A (p.Asp117Glu) | |
2 | g.219418813C= | CA1329210007 | DES | c.351C= (p.Asp117=) | |
2 | g.219418813C>G | CA350685459 | DES | c.351C>G (p.Asp117Glu) | |
2 | g.219418813C>T | CA431427543 | DES | c.351C>T (p.Asp117=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418814C>A | CA350685460 | DES | c.352C>A (p.Arg118Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418814C= | CA1329210008 | DES | c.352C= (p.Arg118=) | |
2 | g.219418814C>G | CA350685462 | DES | c.352C>G (p.Arg118Gly) | |
2 | g.219418814C>T | CA350685461 | DES | c.352C>T (p.Arg118Cys) | ClinVar dbSNP |
2 | g.219418815G>A | CA2125055 | DES | c.353G>A (p.Arg118His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418815G>C | CA350685464 | DES | c.353G>C (p.Arg118Pro) | |
2 | g.219418815G= | CA1329210009 | DES | c.353G= (p.Arg118=) | |
2 | g.219418815G>T | CA65981149 | DES | c.353G>T (p.Arg118Leu) | dbSNP gnomAD v4 |
2 | g.219418816C>A | CA431427545 | DES | c.354C>A (p.Arg118=) | gnomAD v4 |
2 | g.219418816C= | CA1329210010 | DES | c.354C= (p.Arg118=) | |
2 | g.219418816C>G | CA431427546 | DES | c.354C>G (p.Arg118=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418816C>T | CA431427547 | DES | c.354C>T (p.Arg118=) | gnomAD v4 |
2 | g.219418817T>A | CA350685466 | DES | c.355T>A (p.Phe119Ile) | |
2 | g.219418817T>C | CA350685472 | DES | c.355T>C (p.Phe119Leu) | |
2 | g.219418817T>G | CA350685468 | DES | c.355T>G (p.Phe119Val) | |
2 | g.219418818T>A | CA350685476 | DES | c.356T>A (p.Phe119Tyr) | |
2 | g.219418818T>C | CA350685483 | DES | c.356T>C (p.Phe119Ser) | |
2 | g.219418818T>G | CA350685478 | DES | c.356T>G (p.Phe119Cys) | |
2 | g.219418819C>A | CA350685486 | DES | c.357C>A (p.Phe119Leu) | gnomAD v4 |
2 | g.219418819C= | CA1329210011 | DES | c.357C= (p.Phe119=) | |
2 | g.219418819C>G | CA350685489 | DES | c.357C>G (p.Phe119Leu) | |
2 | g.219418819C>T | CA431427551 | DES | c.357C>T (p.Phe119=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418820G>A | CA350685493 | DES | c.358G>A (p.Ala120Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418820G>C | CA308328 | DES | c.358G>C (p.Ala120Pro) | ClinVar dbSNP |
2 | g.219418820G= | CA1329210012 | DES | c.358G= (p.Ala120=) | |
2 | g.219418820G>T | CA350685497 | DES | c.358G>T (p.Ala120Ser) | gnomAD v4 |
2 | g.219418821C>A | CA350685499 | DES | c.359C>A (p.Ala120Asp) | ClinVar dbSNP |
2 | g.219418821C= | CA1329210013 | DES | c.359C= (p.Ala120=) | |
2 | g.219418821C>G | CA350685502 | DES | c.359C>G (p.Ala120Gly) | ClinVar |
2 | g.219418821C>T | CA350685505 | DES | c.359C>T (p.Ala120Val) | |
2 | g.219418822C>A | CA431427556 | DES | c.360C>A (p.Ala120=) | gnomAD v4 |
2 | g.219418822C= | CA1329210014 | DES | c.360C= (p.Ala120=) | |
2 | g.219418822C>G | CA431427558 | DES | c.360C>G (p.Ala120=) | |
2 | g.219418822C>T | CA431427557 | DES | c.360C>T (p.Ala120=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418823A= | CA1329210015 | DES | c.361A= (p.Asn121=) | |
2 | g.219418823A>C | CA350685511 | DES | c.361A>C (p.Asn121His) | ClinVar dbSNP |
2 | g.219418823A>G | CA350685513 | DES | c.361A>G (p.Asn121Asp) | dbSNP |
2 | g.219418823A>T | CA350685516 | DES | c.361A>T (p.Asn121Tyr) | |
2 | g.219418824A= | CA1329210016 | DES | c.362A= (p.Asn121=) | |
2 | g.219418824A>C | CA350685519 | DES | c.362A>C (p.Asn121Thr) | |
2 | g.219418824A>G | CA350685524 | DES | c.362A>G (p.Asn121Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418824A>T | CA350685526 | DES | c.362A>T (p.Asn121Ile) | gnomAD v4 |
2 | g.219418825C>A | CA350685529 | DES | c.363C>A (p.Asn121Lys) | gnomAD v4 |
2 | g.219418825C= | CA1329210017 | DES | c.363C= (p.Asn121=) | |
2 | g.219418825C>G | CA2125056 | DES | c.363C>G (p.Asn121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418825C>T | CA431427560 | DES | c.363C>T (p.Asn121=) | gnomAD v4 |
2 | g.219418826T>A | CA350685541 | DES | c.364T>A (p.Tyr122Asn) | |
2 | g.219418826T>C | CA350685538 | DES | c.364T>C (p.Tyr122His) | gnomAD v4 |
2 | g.219418826T>G | CA308313 | DES | c.364T>G (p.Tyr122Asp) | ClinVar dbSNP |
2 | g.219418826T= | CA1329210018 | DES | c.364T= (p.Tyr122=) | |
2 | g.219418827A= | CA1329210019 | DES | c.365A= (p.Tyr122=) | |
2 | g.219418827A>C | CA350685546 | DES | c.365A>C (p.Tyr122Ser) | |
2 | g.219418827A>G | CA350685550 | DES | c.365A>G (p.Tyr122Cys) | ClinVar dbSNP |
2 | g.219418827A>T | CA350685554 | DES | c.365A>T (p.Tyr122Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418828del | CA2586971377 | DES | c.366del (p.Tyr122Ter) | |
2 | g.219418828C>A | CA350685558 | DES | c.366C>A (p.Tyr122Ter) | gnomAD v4 |
2 | g.219418828C>G | CA350685561 | DES | c.366C>G (p.Tyr122Ter) | |
2 | g.219418828C>T | CA431427567 | DES | c.366C>T (p.Tyr122=) | |
2 | g.219418829A= | CA1329210020 | DES | c.367A= (p.Ile123=) | |
2 | g.219418829A>C | CA350685567 | DES | c.367A>C (p.Ile123Leu) | ClinVar |
2 | g.219418829A>G | CA2125057 | DES | c.367A>G (p.Ile123Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418829A>T | CA350685586 | DES | c.367A>T (p.Ile123Phe) | gnomAD v4 |
2 | g.219418830T>A | CA350685594 | DES | c.368T>A (p.Ile123Asn) | ClinVar dbSNP |
2 | g.219418830T>C | CA350685598 | DES | c.368T>C (p.Ile123Thr) | dbSNP |
2 | g.219418830T>G | CA350685602 | DES | c.368T>G (p.Ile123Ser) | ClinVar |
2 | g.219418830T= | CA1329210022 | DES | c.368T= (p.Ile123=) | |
2 | g.219418830_219418831delinsTC | CA1329210021 | DES | c.368_369delinsTC (p.Ile123=) | |
2 | g.219418831del | CA2125058 | DES | c.369del (p.Ile123MetfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418831C>A | CA431427571 | DES | c.369C>A (p.Ile123=) | gnomAD v4 |
2 | g.219418831C= | CA1329210023 | DES | c.369C= (p.Ile123=) | |
2 | g.219418831C>G | CA65981192 | DES | c.369C>G (p.Ile123Met) | dbSNP gnomAD v4 |
2 | g.219418831C>T | CA2125059 | DES | c.369C>T (p.Ile123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418832G>A | CA350685625 | DES | c.370G>A (p.Glu124Lys) | gnomAD v4 |
2 | g.219418832G>C | CA65981197 | DES | c.370G>C (p.Glu124Gln) | dbSNP |
2 | g.219418832G= | CA1329210024 | DES | c.370G= (p.Glu124=) | |
2 | g.219418832G>T | CA350685632 | DES | c.370G>T (p.Glu124Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418833A= | CA1329210025 | DES | c.371A= (p.Glu124=) | |
2 | g.219418833A>C | CA350685637 | DES | c.371A>C (p.Glu124Ala) | ClinVar dbSNP |
2 | g.219418833A>G | CA2125060 | DES | c.371A>G (p.Glu124Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418833A>T | CA350685644 | DES | c.371A>T (p.Glu124Val) | |
2 | g.219418834G>A | CA133844 | DES | c.372G>A (p.Glu124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418834G>C | CA350685649 | DES | c.372G>C (p.Glu124Asp) | |
2 | g.219418834G= | CA1329210026 | DES | c.372G= (p.Glu124=) | |
2 | g.219418834G>T | CA350685651 | DES | c.372G>T (p.Glu124Asp) | gnomAD v4 |
2 | g.219418834_219418835delinsGA | CA1329210027 | DES | c.372_373delinsGA (p.Glu124=) | |
2 | g.219418835A= | CA1329210028 | DES | c.373A= (p.Lys125=) | |
2 | g.219418835A>C | CA350685655 | DES | c.373A>C (p.Lys125Gln) | |
2 | g.219418835A>G | CA350685659 | DES | c.373A>G (p.Lys125Glu) | |
2 | g.219418835A>T | CA10604977 | DES | c.373A>T (p.Lys125Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.219418836del | CA539843106 | DES | c.374del (p.Lys125ArgfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418836A>C | CA350685673 | DES | c.374A>C (p.Lys125Thr) | |
2 | g.219418836A>G | CA350685668 | DES | c.374A>G (p.Lys125Arg) | gnomAD v4 |
2 | g.219418836A>T | CA350685670 | DES | c.374A>T (p.Lys125Met) | |
2 | g.219418837G>A | CA431427582 | DES | c.375G>A (p.Lys125=) | |
2 | g.219418837G>C | CA350685678 | DES | c.375G>C (p.Lys125Asn) | gnomAD v4 |
2 | g.219418837G>T | CA350685680 | DES | c.375G>T (p.Lys125Asn) | gnomAD v4 |
2 | g.219418838G>A | CA350685685 | DES | c.376G>A (p.Val126Met) | ClinVar dbSNP gnomAD v4 |
2 | g.219418838G>C | CA350685689 | DES | c.376G>C (p.Val126Leu) | |
2 | g.219418838G= | CA1329210029 | DES | c.376G= (p.Val126=) | |
2 | g.219418838G>T | CA10576589 | DES | c.376G>T (p.Val126Leu) | ClinVar dbSNP |
2 | g.219418839T>A | CA2125061 | DES | c.377T>A (p.Val126Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418839T>C | CA350685699 | DES | c.377T>C (p.Val126Ala) | |
2 | g.219418839T>G | CA350685703 | DES | c.377T>G (p.Val126Gly) | |
2 | g.219418839T= | CA1329210030 | DES | c.377T= (p.Val126=) | |
2 | g.219418840G>A | CA431427588 | DES | c.378G>A (p.Val126=) | |
2 | g.219418840G>C | CA431427589 | DES | c.378G>C (p.Val126=) | |
2 | g.219418840G>T | CA431427590 | DES | c.378G>T (p.Val126=) | gnomAD v4 |
2 | g.219418841C>A | CA350685710 | DES | c.379C>A (p.Arg127Ser) | gnomAD v4 |
2 | g.219418841C= | CA1329210031 | DES | c.379C= (p.Arg127=) | |
2 | g.219418841C>G | CA350685715 | DES | c.379C>G (p.Arg127Gly) | ClinVar dbSNP |
2 | g.219418841C>T | CA65981208 | DES | c.379C>T (p.Arg127Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.219418842G>A | CA350685731 | DES | c.380G>A (p.Arg127His) | ClinVar gnomAD v4 |
2 | g.219418842G>C | CA133847 | DES | c.380G>C (p.Arg127Pro) | ClinVar dbSNP |
2 | g.219418842G= | CA1329210032 | DES | c.380G= (p.Arg127=) | |
2 | g.219418842G>T | CA350685723 | DES | c.380G>T (p.Arg127Leu) | gnomAD v4 |
2 | g.219418843C>A | CA431427599 | DES | c.381C>A (p.Arg127=) | gnomAD v4 |
2 | g.219418843C>G | CA431427600 | DES | c.381C>G (p.Arg127=) | |
2 | g.219418843C>T | CA431427601 | DES | c.381C>T (p.Arg127=) | gnomAD v4 |
2 | g.219418844T>A | CA350685741 | DES | c.382T>A (p.Phe128Ile) | |
2 | g.219418844T>C | CA350685745 | DES | c.382T>C (p.Phe128Leu) | gnomAD v4 |
2 | g.219418844T>G | CA350685754 | DES | c.382T>G (p.Phe128Val) | |
2 | g.219418845T>A | CA350685758 | DES | c.383T>A (p.Phe128Tyr) | |
2 | g.219418845T>C | CA350685760 | DES | c.383T>C (p.Phe128Ser) | gnomAD v4 |
2 | g.219418845T>G | CA350685763 | DES | c.383T>G (p.Phe128Cys) | |
2 | g.219418846C>A | CA350685766 | DES | c.384C>A (p.Phe128Leu) | |
2 | g.219418846C>G | CA350685769 | DES | c.384C>G (p.Phe128Leu) | |
2 | g.219418846C>T | CA431427608 | DES | c.384C>T (p.Phe128=) | gnomAD v4 |
2 | g.219418847C>A | CA350685772 | DES | c.385C>A (p.Leu129Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418847C= | CA1329210033 | DES | c.385C= (p.Leu129=) | |
2 | g.219418847C>G | CA350685773 | DES | c.385C>G (p.Leu129Val) | |
2 | g.219418847C>T | CA431427617 | DES | c.385C>T (p.Leu129=) | |
2 | g.219418848T>A | CA350685778 | DES | c.386T>A (p.Leu129Gln) | |
2 | g.219418848T>C | CA350685781 | DES | c.386T>C (p.Leu129Pro) | gnomAD v4 |
2 | g.219418848T>G | CA350685782 | DES | c.386T>G (p.Leu129Arg) | ClinVar dbSNP |
2 | g.219418848T= | CA1329210034 | DES | c.386T= (p.Leu129=) | |
2 | g.219418849G>A | CA431427619 | DES | c.387G>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418849G>C | CA431427621 | DES | c.387G>C (p.Leu129=) | gnomAD v4 |
2 | g.219418849G= | CA1329210035 | DES | c.387G= (p.Leu129=) | |
2 | g.219418849G>T | CA431427623 | DES | c.387G>T (p.Leu129=) | |
2 | g.219418850G>A | CA350685786 | DES | c.388G>A (p.Glu130Lys) | |
2 | g.219418850G>C | CA350685784 | DES | c.388G>C (p.Glu130Gln) | |
2 | g.219418850G>T | CA350685783 | DES | c.388G>T (p.Glu130Ter) | gnomAD v4 |
2 | g.219418851A>C | CA350685788 | DES | c.389A>C (p.Glu130Ala) | |
2 | g.219418851A>G | CA350685789 | DES | c.389A>G (p.Glu130Gly) | gnomAD v4 |
2 | g.219418851A>T | CA350685790 | DES | c.389A>T (p.Glu130Val) | |
2 | g.219418852G>A | CA431427627 | DES | c.390G>A (p.Glu130=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418852G>C | CA350685792 | DES | c.390G>C (p.Glu130Asp) | |
2 | g.219418852G= | CA1329210036 | DES | c.390G= (p.Glu130=) | |
2 | g.219418852G>T | CA350685795 | DES | c.390G>T (p.Glu130Asp) | gnomAD v4 |
2 | g.219418853C>A | CA2125062 | DES | c.391C>A (p.Gln131Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418853C= | CA1329210037 | DES | c.391C= (p.Gln131=) | |
2 | g.219418853C>G | CA350685800 | DES | c.391C>G (p.Gln131Glu) | gnomAD v4 |
2 | g.219418853C>T | CA350685804 | DES | c.391C>T (p.Gln131Ter) | |
2 | g.219418853_219418854delinsCA | CA1329210038 | DES | c.391_392delinsCA (p.Gln131=) | |
2 | g.219418854del | CA1329210039 | DES | c.392del (p.Gln131ArgfsTer10) | dbSNP |
2 | g.219418854A>C | CA350685808 | DES | c.392A>C (p.Gln131Pro) | |
2 | g.219418854A>G | CA350685811 | DES | c.392A>G (p.Gln131Arg) | |
2 | g.219418854A>T | CA350685815 | DES | c.392A>T (p.Gln131Leu) | |
2 | g.219418855G>A | CA431427638 | DES | c.393G>A (p.Gln131=) | gnomAD v4 |
2 | g.219418855G>C | CA350685819 | DES | c.393G>C (p.Gln131His) | gnomAD v4 |
2 | g.219418855G>T | CA350685820 | DES | c.393G>T (p.Gln131His) | gnomAD v4 |
2 | g.219418856C>A | CA350685823 | DES | c.394C>A (p.Gln132Lys) | gnomAD v4 |
2 | g.219418856C= | CA1329210040 | DES | c.394C= (p.Gln132=) | |
2 | g.219418856C>G | CA350685826 | DES | c.394C>G (p.Gln132Glu) | |
2 | g.219418856C>T | CA16610670 | DES | c.394C>T (p.Gln132Ter) | ClinVar dbSNP |
2 | g.219418857A= | CA1329210041 | DES | c.395A= (p.Gln132=) | |
2 | g.219418857A>C | CA350685831 | DES | c.395A>C (p.Gln132Pro) | |
2 | g.219418857A>G | CA350685835 | DES | c.395A>G (p.Gln132Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418857A>T | CA350685839 | DES | c.395A>T (p.Gln132Leu) | |
2 | g.219418858G>A | CA431427644 | DES | c.396G>A (p.Gln132=) | gnomAD v4 |
2 | g.219418858G>C | CA350685844 | DES | c.396G>C (p.Gln132His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418858G= | CA1329210042 | DES | c.396G= (p.Gln132=) | |
2 | g.219418858G>T | CA350685850 | DES | c.396G>T (p.Gln132His) | gnomAD v4 |
2 | g.219418859A= | CA1329210043 | DES | c.397A= (p.Asn133=) | |
2 | g.219418859A>C | CA65981215 | DES | c.397A>C (p.Asn133His) | dbSNP |
2 | g.219418859A>G | CA350685858 | DES | c.397A>G (p.Asn133Asp) | |
2 | g.219418859A>T | CA350685861 | DES | c.397A>T (p.Asn133Tyr) | |
2 | g.219418860A>C | CA350685864 | DES | c.398A>C (p.Asn133Thr) | |
2 | g.219418860A>G | CA350685868 | DES | c.398A>G (p.Asn133Ser) | |
2 | g.219418860A>T | CA350685875 | DES | c.398A>T (p.Asn133Ile) | |
2 | g.219418860_219418871delinsACGCGGCGCTCG | CA1329210044 | DES | c.398_409delinsACGCGGCGCTCG (p.Asn133=) | |
2 | g.219418861C>A | CA350685878 | DES | c.399C>A (p.Asn133Lys) | |
2 | g.219418861C>G | CA350685880 | DES | c.399C>G (p.Asn133Lys) | |
2 | g.219418861C>T | CA431427653 | DES | c.399C>T (p.Asn133=) | ClinVar gnomAD v4 |
2 | g.219418862_219418872del | CA1042520775 | DES | c.400_410del (p.Ala134ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418862G>A | CA350685885 | DES | c.400G>A (p.Ala134Thr) | dbSNP gnomAD v2 |
2 | g.219418862G>C | CA350685890 | DES | c.400G>C (p.Ala134Pro) | |
2 | g.219418862G= | CA1329210045 | DES | c.400G= (p.Ala134=) | |
2 | g.219418862G>T | CA350685887 | DES | c.400G>T (p.Ala134Ser) | gnomAD v4 |
2 | g.219418863C>A | CA350685894 | DES | c.401C>A (p.Ala134Glu) | ClinVar gnomAD v4 |
2 | g.219418863C>G | CA350685897 | DES | c.401C>G (p.Ala134Gly) | |
2 | g.219418863C>T | CA350685902 | DES | c.401C>T (p.Ala134Val) | gnomAD v4 |
2 | g.219418864G>A | CA65981216 | DES | c.402G>A (p.Ala134=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418864G>C | CA431427658 | DES | c.402G>C (p.Ala134=) | |
2 | g.219418864G= | CA1329210046 | DES | c.402G= (p.Ala134=) | |
2 | g.219418864G>T | CA431427659 | DES | c.402G>T (p.Ala134=) | gnomAD v4 |
2 | g.219418865G>A | CA350685912 | DES | c.403G>A (p.Ala135Thr) | gnomAD v4 |
2 | g.219418865G>C | CA350685913 | DES | c.403G>C (p.Ala135Pro) | |
2 | g.219418865G>T | CA350685914 | DES | c.403G>T (p.Ala135Ser) | |
2 | g.219418866C>A | CA350685918 | DES | c.404C>A (p.Ala135Glu) | dbSNP gnomAD v4 |
2 | g.219418866C= | CA1329210047 | DES | c.404C= (p.Ala135=) | |
2 | g.219418866C>G | CA350685921 | DES | c.404C>G (p.Ala135Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418866C>T | CA2125063 | DES | c.404C>T (p.Ala135Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418867G>A | CA431427672 | DES | c.405G>A (p.Ala135=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418867G>C | CA431427674 | DES | c.405G>C (p.Ala135=) | gnomAD v4 |
2 | g.219418867G= | CA1329210048 | DES | c.405G= (p.Ala135=) | |
2 | g.219418867G>T | CA431427676 | DES | c.405G>T (p.Ala135=) | dbSNP gnomAD v4 |
2 | g.219418868C>A | CA350685935 | DES | c.406C>A (p.Leu136Ile) | gnomAD v4 |
2 | g.219418868C= | CA1329210049 | DES | c.406C= (p.Leu136=) | |
2 | g.219418868C>G | CA350685931 | DES | c.406C>G (p.Leu136Val) | ClinVar dbSNP gnomAD v4 |
2 | g.219418868C>T | CA350685928 | DES | c.406C>T (p.Leu136Phe) | dbSNP gnomAD v2 |
2 | g.219418869T>A | CA133850 | DES | c.407T>A (p.Leu136His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418869T>C | CA350685955 | DES | c.407T>C (p.Leu136Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418869T>G | CA350685940 | DES | c.407T>G (p.Leu136Arg) | |
2 | g.219418869T= | CA1329210050 | DES | c.407T= (p.Leu136=) | |
2 | g.219418870C>A | CA431427685 | DES | c.408C>A (p.Leu136=) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.219418870C= | CA1329210051 | DES | c.408C= (p.Leu136=) | |
2 | g.219418870C>G | CA431427686 | DES | c.408C>G (p.Leu136=) | |
2 | g.219418870C>T | CA133853 | DES | c.408C>T (p.Leu136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418871G>A | CA350685966 | DES | c.409G>A (p.Ala137Thr) | ClinVar |
2 | g.219418871G>C | CA350685969 | DES | c.409G>C (p.Ala137Pro) | gnomAD v4 COSMIC |
2 | g.219418871G>T | CA350685972 | DES | c.409G>T (p.Ala137Ser) | gnomAD v4 |
2 | g.219418872C>A | CA10581947 | DES | c.410C>A (p.Ala137Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418872C= | CA1329210052 | DES | c.410C= (p.Ala137=) | |
2 | g.219418872C>G | CA350685980 | DES | c.410C>G (p.Ala137Gly) | gnomAD v4 |
2 | g.219418872C>T | CA2125064 | DES | c.410C>T (p.Ala137Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418873C>A | CA431427706 | DES | c.411C>A (p.Ala137=) | gnomAD v4 |
2 | g.219418873C= | CA1329210053 | DES | c.411C= (p.Ala137=) | |
2 | g.219418873C>G | CA2125065 | DES | c.411C>G (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418873C>T | CA431427703 | DES | c.411C>T (p.Ala137=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418874G>A | CA350685989 | DES | c.412G>A (p.Ala138Thr) | dbSNP gnomAD v4 |
2 | g.219418874G>C | CA350685992 | DES | c.412G>C (p.Ala138Pro) | |
2 | g.219418874G= | CA1329210054 | DES | c.412G= (p.Ala138=) | |
2 | g.219418874G>T | CA350685995 | DES | c.412G>T (p.Ala138Ser) | gnomAD v4 |
2 | g.219418875C>A | CA350685997 | DES | c.413C>A (p.Ala138Asp) | |
2 | g.219418875C>G | CA350685998 | DES | c.413C>G (p.Ala138Gly) | |
2 | g.219418875C>T | CA350685999 | DES | c.413C>T (p.Ala138Val) | |
2 | g.219418876C>A | CA431427715 | DES | c.414C>A (p.Ala138=) | gnomAD v4 |
2 | g.219418876C= | CA1329210055 | DES | c.414C= (p.Ala138=) | |
2 | g.219418876C>G | CA431427711 | DES | c.414C>G (p.Ala138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418876C>T | CA431427709 | DES | c.414C>T (p.Ala138=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418877G>A | CA16610612 | DES | c.415G>A (p.Glu139Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.219418877G>C | CA2125066 | DES | c.415G>C (p.Glu139Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418877G= | CA1329210056 | DES | c.415G= (p.Glu139=) | |
2 | g.219418877G>T | CA350686002 | DES | c.415G>T (p.Glu139Ter) | |
2 | g.219418878A>C | CA350686009 | DES | c.416A>C (p.Glu139Ala) | |
2 | g.219418878A>G | CA350686012 | DES | c.416A>G (p.Glu139Gly) | |
2 | g.219418878A>T | CA350686015 | DES | c.416A>T (p.Glu139Val) | gnomAD v4 |
2 | g.219418879A= | CA1329210057 | DES | c.417A= (p.Glu139=) | |
2 | g.219418879A>C | CA350686018 | DES | c.417A>C (p.Glu139Asp) | |
2 | g.219418879A>G | CA431427720 | DES | c.417A>G (p.Glu139=) | dbSNP gnomAD v4 |
2 | g.219418879A>T | CA350686021 | DES | c.417A>T (p.Glu139Asp) | |
2 | g.219418880G>A | CA350686024 | DES | c.418G>A (p.Val140Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418880G>C | CA350686027 | DES | c.418G>C (p.Val140Leu) | ClinVar dbSNP |
2 | g.219418880G= | CA1329210058 | DES | c.418G= (p.Val140=) | |
2 | g.219418880G>T | CA350686030 | DES | c.418G>T (p.Val140Leu) | |
2 | g.219418881T>A | CA350686032 | DES | c.419T>A (p.Val140Glu) | |
2 | g.219418881T>C | CA350686034 | DES | c.419T>C (p.Val140Ala) | gnomAD v4 |
2 | g.219418881T>G | CA350686037 | DES | c.419T>G (p.Val140Gly) | |
2 | g.219418882G>A | CA431427727 | DES | c.420G>A (p.Val140=) | |
2 | g.219418882G>C | CA431427728 | DES | c.420G>C (p.Val140=) | dbSNP |
2 | g.219418882G= | CA1329210059 | DES | c.420G= (p.Val140=) | |
2 | g.219418882G>T | CA431427729 | DES | c.420G>T (p.Val140=) | gnomAD v4 |
2 | g.219418883A>C | CA350686039 | DES | c.421A>C (p.Asn141His) | |
2 | g.219418883A>G | CA350686045 | DES | c.421A>G (p.Asn141Asp) | |
2 | g.219418883A>T | CA350686041 | DES | c.421A>T (p.Asn141Tyr) | |
2 | g.219418884A>C | CA350686048 | DES | c.422A>C (p.Asn141Thr) | |
2 | g.219418884A>G | CA350686050 | DES | c.422A>G (p.Asn141Ser) | |
2 | g.219418884A>T | CA350686053 | DES | c.422A>T (p.Asn141Ile) | |
2 | g.219418885C>A | CA350686055 | DES | c.423C>A (p.Asn141Lys) | gnomAD v4 |
2 | g.219418885C= | CA1329210060 | DES | c.423C= (p.Asn141=) | |
2 | g.219418885C>G | CA350686059 | DES | c.423C>G (p.Asn141Lys) | dbSNP |
2 | g.219418885C>T | CA431427741 | DES | c.423C>T (p.Asn141=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418886C>A | CA431427744 | DES | c.424C>A (p.Arg142=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418886C= | CA1329210061 | DES | c.424C= (p.Arg142=) | |
2 | g.219418886C>G | CA350686062 | DES | c.424C>G (p.Arg142Gly) | gnomAD v4 |
2 | g.219418886C>T | CA350686066 | DES | c.424C>T (p.Arg142Trp) | gnomAD v4 |
2 | g.219418887G>A | CA350686069 | DES | c.425G>A (p.Arg142Gln) | dbSNP gnomAD v4 |
2 | g.219418887G>C | CA350686075 | DES | c.425G>C (p.Arg142Pro) | ClinVar |
2 | g.219418887G= | CA1329210062 | DES | c.425G= (p.Arg142=) | |
2 | g.219418887G>T | CA350686077 | DES | c.425G>T (p.Arg142Leu) | gnomAD v4 |
2 | g.219418888G>A | CA431427756 | DES | c.426G>A (p.Arg142=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418888G>C | CA431427757 | DES | c.426G>C (p.Arg142=) | |
2 | g.219418888G= | CA1329210063 | DES | c.426G= (p.Arg142=) | |
2 | g.219418888G>T | CA431427758 | DES | c.426G>T (p.Arg142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418889C>A | CA350686085 | DES | c.427C>A (p.Leu143Ile) | gnomAD v4 |
2 | g.219418889C= | CA1329210064 | DES | c.427C= (p.Leu143=) | |
2 | g.219418889C>G | CA350686082 | DES | c.427C>G (p.Leu143Val) | ClinVar dbSNP |
2 | g.219418889C>T | CA350686080 | DES | c.427C>T (p.Leu143Phe) | gnomAD v4 |
2 | g.219418890T>A | CA350686087 | DES | c.428T>A (p.Leu143His) | |
2 | g.219418890T>C | CA350686089 | DES | c.428T>C (p.Leu143Pro) | ClinVar dbSNP |
2 | g.219418890T>G | CA350686092 | DES | c.428T>G (p.Leu143Arg) | ClinVar |
2 | g.219418890T= | CA1329210065 | DES | c.428T= (p.Leu143=) | |
2 | g.219418891C>A | CA431427762 | DES | c.429C>A (p.Leu143=) | |
2 | g.219418891C= | CA1329210066 | DES | c.429C= (p.Leu143=) | |
2 | g.219418891C>G | CA431427763 | DES | c.429C>G (p.Leu143=) | |
2 | g.219418891C>T | CA65981248 | DES | c.429C>T (p.Leu143=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418892A= | CA1329210067 | DES | c.430A= (p.Lys144=) | |
2 | g.219418892A>C | CA350686101 | DES | c.430A>C (p.Lys144Gln) | |
2 | g.219418892A>G | CA350686106 | DES | c.430A>G (p.Lys144Glu) | gnomAD v4 |
2 | g.219418892A>T | CA350686110 | DES | c.430A>T (p.Lys144Ter) | dbSNP |
2 | g.219418893A>C | CA350686114 | DES | c.431A>C (p.Lys144Thr) | |
2 | g.219418893A>G | CA350686117 | DES | c.431A>G (p.Lys144Arg) | gnomAD v4 |
2 | g.219418893A>T | CA350686122 | DES | c.431A>T (p.Lys144Met) | |
2 | g.219418895_219418913del | CA2754326441 | DES | c.433_451del (p.Gly145TrpfsTer?) | |
2 | g.219418894G>A | CA431427769 | DES | c.432G>A (p.Lys144=) | gnomAD v4 |
2 | g.219418894G>C | CA350686144 | DES | c.432G>C (p.Lys144Asn) | |
2 | g.219418894G>T | CA350686147 | DES | c.432G>T (p.Lys144Asn) | gnomAD v4 |
2 | g.219418896dup | CA2663250194 | DES | c.434dup (p.Arg146ProfsTer26) c.434dup (p.Arg146ProfsTer?) | gnomAD v4 |
2 | g.219418895G>A | CA350686158 | DES | c.433G>A (p.Gly145Ser) | |
2 | g.219418895G>C | CA350686160 | DES | c.433G>C (p.Gly145Arg) | |
2 | g.219418895G>T | CA350686153 | DES | c.433G>T (p.Gly145Cys) | |
2 | g.219418896G>A | CA350686173 | DES | c.434G>A (p.Gly145Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.219418896G>C | CA350686166 | DES | c.434G>C (p.Gly145Ala) | dbSNP |
2 | g.219418896G= | CA1329210068 | DES | c.434G= (p.Gly145=) | |
2 | g.219418896G>T | CA350686169 | DES | c.434G>T (p.Gly145Val) | |
2 | g.219418897C>A | CA431427776 | DES | c.435C>A (p.Gly145=) | ClinVar |
2 | g.219418897C= | CA1329210069 | DES | c.435C= (p.Gly145=) | |
2 | g.219418897C>G | CA431427777 | DES | c.435C>G (p.Gly145=) | |
2 | g.219418897C>T | CA431427778 | DES | c.435C>T (p.Gly145=) | ClinVar dbSNP gnomAD v4 |