15 | g.65077610C>A | CA490899142 | KBTBD13 | c.795C>A (p.Gly265=)
| |
15 | g.65077610C= | CA2183440333 | KBTBD13 | c.795C= (p.Gly265=)
| |
15 | g.65077610C>G | CA490899145 | KBTBD13 | c.795C>G (p.Gly265=)
| |
15 | g.65077610C>T | CA7613985 | KBTBD13 | c.795C>T (p.Gly265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077611del | CA2628987451 | KBTBD13 | c.796del (p.Glu266AsnfsTer?)
| gnomAD v4 |
15 | g.65077611G>A | CA392863352 | KBTBD13 | c.796G>A (p.Glu266Lys)
| gnomAD v4 |
15 | g.65077611G>C | CA392863355 | KBTBD13 | c.796G>C (p.Glu266Gln)
| dbSNP gnomAD v2 |
15 | g.65077611G= | CA2183440337 | KBTBD13 | c.796G= (p.Glu266=)
| |
15 | g.65077611G>T | CA392863359 | KBTBD13 | c.796G>T (p.Glu266Ter)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077612A>C | CA392863365 | KBTBD13 | c.797A>C (p.Glu266Ala)
| |
15 | g.65077612A>G | CA392863374 | KBTBD13 | c.797A>G (p.Glu266Gly)
| |
15 | g.65077612A>T | CA392863368 | KBTBD13 | c.797A>T (p.Glu266Val)
| |
15 | g.65077612_65077613delinsTG | CA2697549138 | KBTBD13 | c.797_798delinsTG (p.Glu266Val)
| ClinVar |
15 | g.65077613A= | CA2183440343 | KBTBD13 | c.798A= (p.Glu266=)
| |
15 | g.65077613A>C | CA392863383 | KBTBD13 | c.798A>C (p.Glu266Asp)
| dbSNP gnomAD v4 |
15 | g.65077613A>G | CA153249 | KBTBD13 | c.798A>G (p.Glu266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077613A>T | CA392863392 | KBTBD13 | c.798A>T (p.Glu266Asp)
| dbSNP gnomAD v4 |
15 | g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG | CA970811072 | KBTBD13 | c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG (p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaIleGlyGlyGlu)
| gnomAD v3 gnomAD v4 |
15 | g.65077614T>A | CA392863398 | KBTBD13 | c.799T>A (p.Phe267Ile)
| |
15 | g.65077614T>C | CA392863403 | KBTBD13 | c.799T>C (p.Phe267Leu)
| |
15 | g.65077614T>G | CA392863406 | KBTBD13 | c.799T>G (p.Phe267Val)
| |
15 | g.65077615T>A | CA392863416 | KBTBD13 | c.800T>A (p.Phe267Tyr)
| |
15 | g.65077615T>C | CA392863421 | KBTBD13 | c.800T>C (p.Phe267Ser)
| gnomAD v4 |
15 | g.65077615T>G | CA392863424 | KBTBD13 | c.800T>G (p.Phe267Cys)
| |
15 | g.65077615T= | CA2183440347 | KBTBD13 | c.800T= (p.Phe267=)
| |
15 | g.65077616C>A | CA392863451 | KBTBD13 | c.801C>A (p.Phe267Leu)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077616C= | CA2183440351 | KBTBD13 | c.801C= (p.Phe267=)
| |
15 | g.65077616C>G | CA392863453 | KBTBD13 | c.801C>G (p.Phe267Leu)
| |
15 | g.65077616C>T | CA490899160 | KBTBD13 | c.801C>T (p.Phe267=)
| gnomAD v4 |
15 | g.65077617dup | CA7613986 | KBTBD13 | c.802dup (p.Gln268ProfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077617C>A | CA392863473 | KBTBD13 | c.802C>A (p.Gln268Lys)
| gnomAD v4 |
15 | g.65077617C= | CA2183440354 | KBTBD13 | c.802C= (p.Gln268=)
| |
15 | g.65077617C>G | CA392863469 | KBTBD13 | c.802C>G (p.Gln268Glu)
| |
15 | g.65077617C>T | CA271504136 | KBTBD13 | c.802C>T (p.Gln268Ter)
| dbSNP gnomAD v4 |
15 | g.65077618A>C | CA392863479 | KBTBD13 | c.803A>C (p.Gln268Pro)
| gnomAD v4 |
15 | g.65077618A>G | CA392863483 | KBTBD13 | c.803A>G (p.Gln268Arg)
| gnomAD v4 |
15 | g.65077618A>T | CA392863487 | KBTBD13 | c.803A>T (p.Gln268Leu)
| |
15 | g.65077619G>A | CA490899162 | KBTBD13 | c.804G>A (p.Gln268=)
| gnomAD v4 |
15 | g.65077619G>C | CA392863497 | KBTBD13 | c.804G>C (p.Gln268His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077619G= | CA2183440358 | KBTBD13 | c.804G= (p.Gln268=)
| |
15 | g.65077619G>T | CA392863501 | KBTBD13 | c.804G>T (p.Gln268His)
| gnomAD v4 |
15 | g.65077620A= | CA2183440360 | KBTBD13 | c.805A= (p.Arg269=)
| |
15 | g.65077620A>C | CA490899165 | KBTBD13 | c.805A>C (p.Arg269=)
| |
15 | g.65077620A>G | CA392863509 | KBTBD13 | c.805A>G (p.Arg269Gly)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077620A>T | CA392863514 | KBTBD13 | c.805A>T (p.Arg269Trp)
| gnomAD v4 |
15 | g.65077621G>A | CA392863522 | KBTBD13 | c.806G>A (p.Arg269Lys)
| gnomAD v4 |
15 | g.65077621G>C | CA392863525 | KBTBD13 | c.806G>C (p.Arg269Thr)
| gnomAD v4 |
15 | g.65077621G= | CA2183440364 | KBTBD13 | c.806G= (p.Arg269=)
| |
15 | g.65077621G>T | CA392863528 | KBTBD13 | c.806G>T (p.Arg269Met)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077622G>A | CA490899168 | KBTBD13 | c.807G>A (p.Arg269=)
| dbSNP gnomAD v4 |
15 | g.65077622G>C | CA392863541 | KBTBD13 | c.807G>C (p.Arg269Ser)
| |
15 | g.65077622G= | CA2183440367 | KBTBD13 | c.807G= (p.Arg269=)
| |
15 | g.65077622G>T | CA392863549 | KBTBD13 | c.807G>T (p.Arg269Ser)
| gnomAD v4 |
15 | g.65077623A>C | CA392863553 | KBTBD13 | c.808A>C (p.Thr270Pro)
| |
15 | g.65077623A>G | CA392863571 | KBTBD13 | c.808A>G (p.Thr270Ala)
| |
15 | g.65077623A>T | CA392863564 | KBTBD13 | c.808A>T (p.Thr270Ser)
| |
15 | g.65077624C>A | CA392863575 | KBTBD13 | c.809C>A (p.Thr270Lys)
| gnomAD v4 |
15 | g.65077624C= | CA2183440369 | KBTBD13 | c.809C= (p.Thr270=)
| |
15 | g.65077624C>G | CA392863578 | KBTBD13 | c.809C>G (p.Thr270Arg)
| dbSNP gnomAD v4 |
15 | g.65077624C>T | CA7613987 | KBTBD13 | c.809C>T (p.Thr270Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077625G>A | CA490899171 | KBTBD13 | c.810G>A (p.Thr270=)
| gnomAD v4 |
15 | g.65077625G>C | CA271504141 | KBTBD13 | c.810G>C (p.Thr270=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077625G= | CA2183440372 | KBTBD13 | c.810G= (p.Thr270=)
| |
15 | g.65077625G>T | CA490899175 | KBTBD13 | c.810G>T (p.Thr270=)
| gnomAD v4 |
15 | g.65077626C>A | CA392863584 | KBTBD13 | c.811C>A (p.Pro271Thr)
| gnomAD v4 |
15 | g.65077626C= | CA2183440377 | KBTBD13 | c.811C= (p.Pro271=)
| |
15 | g.65077626C>G | CA392863587 | KBTBD13 | c.811C>G (p.Pro271Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077626C>T | CA392863590 | KBTBD13 | c.811C>T (p.Pro271Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077628del | CA2628987456 | KBTBD13 | c.813del (p.Ile272SerfsTer?)
| gnomAD v4 |
15 | g.65077627C>A | CA392863593 | KBTBD13 | c.812C>A (p.Pro271His)
| gnomAD v4 |
15 | g.65077627C= | CA2183440379 | KBTBD13 | c.812C= (p.Pro271=)
| |
15 | g.65077627C>G | CA392863596 | KBTBD13 | c.812C>G (p.Pro271Arg)
| gnomAD v4 |
15 | g.65077627C>T | CA271504161 | KBTBD13 | c.812C>T (p.Pro271Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077628C>A | CA490899176 | KBTBD13 | c.813C>A (p.Pro271=)
| gnomAD v4 |
15 | g.65077628C= | CA2183440385 | KBTBD13 | c.813C= (p.Pro271=)
| |
15 | g.65077628C>G | CA490899178 | KBTBD13 | c.813C>G (p.Pro271=)
| |
15 | g.65077628C>T | CA271504169 | KBTBD13 | c.813C>T (p.Pro271=)
| dbSNP gnomAD v4 |
15 | g.65077629A>C | CA392863604 | KBTBD13 | c.814A>C (p.Ile272Leu)
| gnomAD v4 |
15 | g.65077629A>G | CA392863608 | KBTBD13 | c.814A>G (p.Ile272Val)
| gnomAD v4 |
15 | g.65077629A>T | CA392863610 | KBTBD13 | c.814A>T (p.Ile272Phe)
| |
15 | g.65077630T>A | CA7613988 | KBTBD13 | c.815T>A (p.Ile272Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077630T>C | CA392863620 | KBTBD13 | c.815T>C (p.Ile272Thr)
| gnomAD v4 |
15 | g.65077630T>G | CA392863640 | KBTBD13 | c.815T>G (p.Ile272Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077630T= | CA2183440386 | KBTBD13 | c.815T= (p.Ile272=)
| |
15 | g.65077631C>A | CA490899184 | KBTBD13 | c.816C>A (p.Ile272=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077631C= | CA2183440388 | KBTBD13 | c.816C= (p.Ile272=)
| |
15 | g.65077631C>G | CA7613989 | KBTBD13 | c.816C>G (p.Ile272Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077631C>T | CA490899188 | KBTBD13 | c.816C>T (p.Ile272=)
| gnomAD v4 |
15 | g.65077632A= | CA2183440391 | KBTBD13 | c.817A= (p.Ser273=)
| |
15 | g.65077632A>C | CA392863648 | KBTBD13 | c.817A>C (p.Ser273Arg)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077632A>G | CA392863653 | KBTBD13 | c.817A>G (p.Ser273Gly)
| gnomAD v4 |
15 | g.65077632A>T | CA392863657 | KBTBD13 | c.817A>T (p.Ser273Cys)
| gnomAD v4 |
15 | g.65077633G>A | CA392863660 | KBTBD13 | c.818G>A (p.Ser273Asn)
| gnomAD v4 |
15 | g.65077633G>C | CA392863665 | KBTBD13 | c.818G>C (p.Ser273Thr)
| |
15 | g.65077633G= | CA2183440393 | KBTBD13 | c.818G= (p.Ser273=)
| |
15 | g.65077633G>T | CA392863667 | KBTBD13 | c.818G>T (p.Ser273Ile)
| dbSNP gnomAD v4 |
15 | g.65077634C>A | CA392863670 | KBTBD13 | c.819C>A (p.Ser273Arg)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077634C= | CA2183440398 | KBTBD13 | c.819C= (p.Ser273=)
| |
15 | g.65077634C>G | CA392863672 | KBTBD13 | c.819C>G (p.Ser273Arg)
| |
15 | g.65077634C>T | CA490899190 | KBTBD13 | c.819C>T (p.Ser273=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077635T>A | CA392863681 | KBTBD13 | c.820T>A (p.Ser274Thr)
| |
15 | g.65077635T>C | CA392863684 | KBTBD13 | c.820T>C (p.Ser274Pro)
| |
15 | g.65077635T>G | CA392863689 | KBTBD13 | c.820T>G (p.Ser274Ala)
| |
15 | g.65077636C>A | CA392863701 | KBTBD13 | c.821C>A (p.Ser274Tyr)
| gnomAD v4 |
15 | g.65077636C>G | CA392863704 | KBTBD13 | c.821C>G (p.Ser274Cys)
| |
15 | g.65077636C>T | CA392863697 | KBTBD13 | c.821C>T (p.Ser274Phe)
| gnomAD v4 |
15 | g.65077637C>A | CA490899194 | KBTBD13 | c.822C>A (p.Ser274=)
| gnomAD v4 |
15 | g.65077637C= | CA2183440401 | KBTBD13 | c.822C= (p.Ser274=)
| |
15 | g.65077637C>G | CA490899195 | KBTBD13 | c.822C>G (p.Ser274=)
| |
15 | g.65077637C>T | CA7613990 | KBTBD13 | c.822C>T (p.Ser274=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.65077638G>A | CA392863712 | KBTBD13 | c.823G>A (p.Val275Met)
| gnomAD v4 |
15 | g.65077638G>C | CA392863718 | KBTBD13 | c.823G>C (p.Val275Leu)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077638G= | CA2183440410 | KBTBD13 | c.823G= (p.Val275=)
| |
15 | g.65077638G>T | CA392863721 | KBTBD13 | c.823G>T (p.Val275Leu)
| gnomAD v4 |
15 | g.65077639T>A | CA392863726 | KBTBD13 | c.824T>A (p.Val275Glu)
| |
15 | g.65077639T>C | CA392863732 | KBTBD13 | c.824T>C (p.Val275Ala)
| |
15 | g.65077639T>G | CA392863736 | KBTBD13 | c.824T>G (p.Val275Gly)
| |
15 | g.65077640G>A | CA490899205 | KBTBD13 | c.825G>A (p.Val275=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077640G>C | CA490899207 | KBTBD13 | c.825G>C (p.Val275=)
| |
15 | g.65077640G= | CA2183440412 | KBTBD13 | c.825G= (p.Val275=)
| |
15 | g.65077640G>T | CA490899210 | KBTBD13 | c.825G>T (p.Val275=)
| gnomAD v4 |
15 | g.65077641del | CA2628987457 | KBTBD13 | c.826del (p.Glu276SerfsTer?)
| gnomAD v4 |
15 | g.65077641G>A | CA392863746 | KBTBD13 | c.826G>A (p.Glu276Lys)
| |
15 | g.65077641G>C | CA392863750 | KBTBD13 | c.826G>C (p.Glu276Gln)
| |
15 | g.65077641G= | CA2183440416 | KBTBD13 | c.826G= (p.Glu276=)
| |
15 | g.65077641G>T | CA392863753 | KBTBD13 | c.826G>T (p.Glu276Ter)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077642A= | CA2183440420 | KBTBD13 | c.827A= (p.Glu276=)
| |
15 | g.65077642A>C | CA392863773 | KBTBD13 | c.827A>C (p.Glu276Ala)
| |
15 | g.65077642A>G | CA392863774 | KBTBD13 | c.827A>G (p.Glu276Gly)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077642A>T | CA392863775 | KBTBD13 | c.827A>T (p.Glu276Val)
| |
15 | g.65077643G>A | CA490899284 | KBTBD13 | c.828G>A (p.Glu276=)
| gnomAD v4 |
15 | g.65077643G>C | CA392863792 | KBTBD13 | c.828G>C (p.Glu276Asp)
| |
15 | g.65077643G>T | CA392863778 | KBTBD13 | c.828G>T (p.Glu276Asp)
| gnomAD v4 |
15 | g.65077644C>A | CA7613991 | KBTBD13 | c.829C>A (p.Arg277Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077644C= | CA2183440423 | KBTBD13 | c.829C= (p.Arg277=)
| |
15 | g.65077644C>G | CA392863801 | KBTBD13 | c.829C>G (p.Arg277Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077644C>T | CA392863816 | KBTBD13 | c.829C>T (p.Arg277Cys)
| gnomAD v4 |
15 | g.65077645G>A | CA392863819 | KBTBD13 | c.830G>A (p.Arg277His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077645G>C | CA392863820 | KBTBD13 | c.830G>C (p.Arg277Pro)
| |
15 | g.65077645G= | CA2183440425 | KBTBD13 | c.830G= (p.Arg277=)
| |
15 | g.65077645G>T | CA392863821 | KBTBD13 | c.830G>T (p.Arg277Leu)
| dbSNP gnomAD v4 |
15 | g.65077646C>A | CA490899285 | KBTBD13 | c.831C>A (p.Arg277=)
| gnomAD v4 |
15 | g.65077646C= | CA2183440428 | KBTBD13 | c.831C= (p.Arg277=)
| |
15 | g.65077646C>G | CA7613992 | KBTBD13 | c.831C>G (p.Arg277=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077646C>T | CA490899286 | KBTBD13 | c.831C>T (p.Arg277=)
| |
15 | g.65077647T>A | CA392863828 | KBTBD13 | c.832T>A (p.Tyr278Asn)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077647T>C | CA392863830 | KBTBD13 | c.832T>C (p.Tyr278His)
| gnomAD v4 |
15 | g.65077647T>G | CA392863834 | KBTBD13 | c.832T>G (p.Tyr278Asp)
| |
15 | g.65077647T= | CA2183440433 | KBTBD13 | c.832T= (p.Tyr278=)
| |
15 | g.65077648A= | CA2183440435 | KBTBD13 | c.833A= (p.Tyr278=)
| |
15 | g.65077648A>C | CA392863840 | KBTBD13 | c.833A>C (p.Tyr278Ser)
| |
15 | g.65077648A>G | CA392863848 | KBTBD13 | c.833A>G (p.Tyr278Cys)
| gnomAD v4 |
15 | g.65077648A>T | CA7613993 | KBTBD13 | c.833A>T (p.Tyr278Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077649C>A | CA392863859 | KBTBD13 | c.834C>A (p.Tyr278Ter)
| gnomAD v4 COSMIC |
15 | g.65077649C= | CA2183440437 | KBTBD13 | c.834C= (p.Tyr278=)
| |
15 | g.65077649C>G | CA392863857 | KBTBD13 | c.834C>G (p.Tyr278Ter)
| |
15 | g.65077649C>T | CA7613994 | KBTBD13 | c.834C>T (p.Tyr278=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077650_65077667del | CA2628987462 | KBTBD13 | c.835_852del (p.Asp279_Cys284del)
| gnomAD v4 |
15 | g.65077650G>A | CA392863864 | KBTBD13 | c.835G>A (p.Asp279Asn)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077650G>C | CA392863867 | KBTBD13 | c.835G>C (p.Asp279His)
| |
15 | g.65077650G= | CA2183440440 | KBTBD13 | c.835G= (p.Asp279=)
| |
15 | g.65077650G>T | CA392863866 | KBTBD13 | c.835G>T (p.Asp279Tyr)
| gnomAD v4 |
15 | g.65077651A>C | CA392863870 | KBTBD13 | c.836A>C (p.Asp279Ala)
| |
15 | g.65077651A>G | CA392863879 | KBTBD13 | c.836A>G (p.Asp279Gly)
| |
15 | g.65077651A>T | CA392863874 | KBTBD13 | c.836A>T (p.Asp279Val)
| |
15 | g.65077652C>A | CA392863881 | KBTBD13 | c.837C>A (p.Asp279Glu)
| dbSNP gnomAD v4 |
15 | g.65077652C= | CA2183440446 | KBTBD13 | c.837C= (p.Asp279=)
| |
15 | g.65077652C>G | CA392863882 | KBTBD13 | c.837C>G (p.Asp279Glu)
| |
15 | g.65077652C>T | CA490899287 | KBTBD13 | c.837C>T (p.Asp279=)
| gnomAD v4 |
15 | g.65077653C>A | CA392863888 | KBTBD13 | c.838C>A (p.Pro280Thr)
| gnomAD v4 |
15 | g.65077653C>G | CA392863889 | KBTBD13 | c.838C>G (p.Pro280Ala)
| gnomAD v4 |
15 | g.65077653C>T | CA392863890 | KBTBD13 | c.838C>T (p.Pro280Ser)
| gnomAD v4 |
15 | g.65077654C>A | CA392863892 | KBTBD13 | c.839C>A (p.Pro280Gln)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077654C= | CA2183440450 | KBTBD13 | c.839C= (p.Pro280=)
| |
15 | g.65077654C>G | CA392863897 | KBTBD13 | c.839C>G (p.Pro280Arg)
| |
15 | g.65077654C>T | CA7613995 | KBTBD13 | c.839C>T (p.Pro280Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077655A>C | CA490899288 | KBTBD13 | c.840A>C (p.Pro280=)
| |
15 | g.65077655A>G | CA490899289 | KBTBD13 | c.840A>G (p.Pro280=)
| gnomAD v4 |
15 | g.65077655A>T | CA490899290 | KBTBD13 | c.840A>T (p.Pro280=)
| |
15 | g.65077656G>A | CA392863898 | KBTBD13 | c.841G>A (p.Ala281Thr)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077656G>C | CA392863899 | KBTBD13 | c.841G>C (p.Ala281Pro)
| |
15 | g.65077656G= | CA2183440453 | KBTBD13 | c.841G= (p.Ala281=)
| |
15 | g.65077656G>T | CA392863902 | KBTBD13 | c.841G>T (p.Ala281Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077657C>A | CA392863921 | KBTBD13 | c.842C>A (p.Ala281Asp)
| dbSNP |
15 | g.65077657C= | CA2183440456 | KBTBD13 | c.842C= (p.Ala281=)
| |
15 | g.65077657C>G | CA392863919 | KBTBD13 | c.842C>G (p.Ala281Gly)
| |
15 | g.65077657C>T | CA392863914 | KBTBD13 | c.842C>T (p.Ala281Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077658C>A | CA490899291 | KBTBD13 | c.843C>A (p.Ala281=)
| |
15 | g.65077658C= | CA2183440458 | KBTBD13 | c.843C= (p.Ala281=)
| |
15 | g.65077658C>G | CA490899292 | KBTBD13 | c.843C>G (p.Ala281=)
| dbSNP gnomAD v4 |
15 | g.65077658C>T | CA490899293 | KBTBD13 | c.843C>T (p.Ala281=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077659G>A | CA7613996 | KBTBD13 | c.844G>A (p.Ala282Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077659G>C | CA392863925 | KBTBD13 | c.844G>C (p.Ala282Pro)
| |
15 | g.65077659G= | CA2183440461 | KBTBD13 | c.844G= (p.Ala282=)
| |
15 | g.65077659G>T | CA392863928 | KBTBD13 | c.844G>T (p.Ala282Ser)
| gnomAD v4 |
15 | g.65077660C>A | CA392863937 | KBTBD13 | c.845C>A (p.Ala282Glu)
| gnomAD v4 |
15 | g.65077660C= | CA2183440465 | KBTBD13 | c.845C= (p.Ala282=)
| |
15 | g.65077660C>G | CA392863942 | KBTBD13 | c.845C>G (p.Ala282Gly)
| dbSNP gnomAD v2 |
15 | g.65077660C>T | CA392863945 | KBTBD13 | c.845C>T (p.Ala282Val)
| gnomAD v4 |
15 | g.65077661G>A | CA490899294 | KBTBD13 | c.846G>A (p.Ala282=)
| gnomAD v4 |
15 | g.65077661G>C | CA490899295 | KBTBD13 | c.846G>C (p.Ala282=)
| gnomAD v4 |
15 | g.65077661G>T | CA490899296 | KBTBD13 | c.846G>T (p.Ala282=)
| gnomAD v4 |
15 | g.65077663dup | CA1139532849 | KBTBD13 | c.848dup (p.Cys284LeufsTer?)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077662G>A | CA7613997 | KBTBD13 | c.847G>A (p.Gly283Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077662G>C | CA392863949 | KBTBD13 | c.847G>C (p.Gly283Arg)
| |
15 | g.65077662G= | CA2183440469 | KBTBD13 | c.847G= (p.Gly283=)
| |
15 | g.65077662G>T | CA392863951 | KBTBD13 | c.847G>T (p.Gly283Cys)
| gnomAD v4 |
15 | g.65077663G>A | CA271504216 | KBTBD13 | c.848G>A (p.Gly283Asp)
| dbSNP gnomAD v4 |
15 | g.65077663G>C | CA392863958 | KBTBD13 | c.848G>C (p.Gly283Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077663G= | CA2183440473 | KBTBD13 | c.848G= (p.Gly283=)
| |
15 | g.65077663G>T | CA392863964 | KBTBD13 | c.848G>T (p.Gly283Val)
| gnomAD v4 |
15 | g.65077664C>A | CA490899298 | KBTBD13 | c.849C>A (p.Gly283=)
| gnomAD v4 |
15 | g.65077664C= | CA2183440476 | KBTBD13 | c.849C= (p.Gly283=)
| |
15 | g.65077664C>G | CA490899297 | KBTBD13 | c.849C>G (p.Gly283=)
| |
15 | g.65077664C>T | CA7613998 | KBTBD13 | c.849C>T (p.Gly283=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077665T>A | CA392863982 | KBTBD13 | c.850T>A (p.Cys284Ser)
| |
15 | g.65077665T>C | CA392863975 | KBTBD13 | c.850T>C (p.Cys284Arg)
| |
15 | g.65077665T>G | CA271504237 | KBTBD13 | c.850T>G (p.Cys284Gly)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077665T= | CA2183440479 | KBTBD13 | c.850T= (p.Cys284=)
| |
15 | g.65077665_65077666insA | CA2523654557 | KBTBD13 | c.850_851insA (p.Cys284Ter)
| |
15 | g.65077666G>A | CA7613999 | KBTBD13 | c.851G>A (p.Cys284Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077666G>C | CA392863995 | KBTBD13 | c.851G>C (p.Cys284Ser)
| |
15 | g.65077666G= | CA2183440481 | KBTBD13 | c.851G= (p.Cys284=)
| |
15 | g.65077666G>T | CA392864012 | KBTBD13 | c.851G>T (p.Cys284Phe)
| gnomAD v4 |
15 | g.65077667C>A | CA392864016 | KBTBD13 | c.852C>A (p.Cys284Ter)
| |
15 | g.65077667C= | CA2183440483 | KBTBD13 | c.852C= (p.Cys284=)
| |
15 | g.65077667C>G | CA392864017 | KBTBD13 | c.852C>G (p.Cys284Trp)
| |
15 | g.65077667C>T | CA490899299 | KBTBD13 | c.852C>T (p.Cys284=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077668T>A | CA392864018 | KBTBD13 | c.853T>A (p.Trp285Arg)
| gnomAD v4 |
15 | g.65077668T>C | CA7614000 | KBTBD13 | c.853T>C (p.Trp285Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077668T>G | CA392864021 | KBTBD13 | c.853T>G (p.Trp285Gly)
| |
15 | g.65077668T= | CA2183440485 | KBTBD13 | c.853T= (p.Trp285=)
| |
15 | g.65077669G>A | CA392864024 | KBTBD13 | c.854G>A (p.Trp285Ter)
| |
15 | g.65077669G>C | CA392864026 | KBTBD13 | c.854G>C (p.Trp285Ser)
| gnomAD v4 |
15 | g.65077669G>T | CA392864027 | KBTBD13 | c.854G>T (p.Trp285Leu)
| gnomAD v4 |
15 | g.65077670G>A | CA392864037 | KBTBD13 | c.855G>A (p.Trp285Ter)
| |
15 | g.65077670G>C | CA392864031 | KBTBD13 | c.855G>C (p.Trp285Cys)
| gnomAD v4 |
15 | g.65077670G>T | CA392864035 | KBTBD13 | c.855G>T (p.Trp285Cys)
| gnomAD v4 |
15 | g.65077671A>C | CA392864039 | KBTBD13 | c.856A>C (p.Ser286Arg)
| |
15 | g.65077671A>G | CA392864041 | KBTBD13 | c.856A>G (p.Ser286Gly)
| gnomAD v4 |
15 | g.65077671A>T | CA392864042 | KBTBD13 | c.856A>T (p.Ser286Cys)
| |
15 | g.65077672G>A | CA392864045 | KBTBD13 | c.857G>A (p.Ser286Asn)
| |
15 | g.65077672G>C | CA392864047 | KBTBD13 | c.857G>C (p.Ser286Thr)
| |
15 | g.65077672G>T | CA392864050 | KBTBD13 | c.857G>T (p.Ser286Ile)
| gnomAD v4 |
15 | g.65077672_65077673delinsGT | CA2183440487 | KBTBD13 | c.857_858delinsGT (p.Ser286=)
| |
15 | g.65077673T>A | CA392864058 | KBTBD13 | c.858T>A (p.Ser286Arg)
| |
15 | g.65077673T>C | CA490899300 | KBTBD13 | c.858T>C (p.Ser286=)
| gnomAD v4 |
15 | g.65077673T>G | CA392864063 | KBTBD13 | c.858T>G (p.Ser286Arg)
| |
15 | g.65077675del | CA714889361 | KBTBD13 | c.860del (p.Phe287SerfsTer?)
| dbSNP |
15 | g.65077674T>A | CA392864065 | KBTBD13 | c.859T>A (p.Phe287Ile)
| |
15 | g.65077674T>C | CA392864066 | KBTBD13 | c.859T>C (p.Phe287Leu)
| |
15 | g.65077674T>G | CA392864068 | KBTBD13 | c.859T>G (p.Phe287Val)
| |
15 | g.65077674_65077676del | CA2628987491 | KBTBD13 | c.859_861del (p.Phe287del)
| gnomAD v4 |
15 | g.65077675T>A | CA392864077 | KBTBD13 | c.860T>A (p.Phe287Tyr)
| |
15 | g.65077675T>C | CA392864073 | KBTBD13 | c.860T>C (p.Phe287Ser)
| |
15 | g.65077675T>G | CA392864071 | KBTBD13 | c.860T>G (p.Phe287Cys)
| |
15 | g.65077676C>A | CA392864080 | KBTBD13 | c.861C>A (p.Phe287Leu)
| gnomAD v4 |
15 | g.65077676C= | CA2183440490 | KBTBD13 | c.861C= (p.Phe287=)
| |
15 | g.65077676C>G | CA271504261 | KBTBD13 | c.861C>G (p.Phe287Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077676C>T | CA7614001 | KBTBD13 | c.861C>T (p.Phe287=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077677G>A | CA392864082 | KBTBD13 | c.862G>A (p.Val288Met)
| ClinVar gnomAD v4 |
15 | g.65077677G>C | CA7614002 | KBTBD13 | c.862G>C (p.Val288Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077677G= | CA2183440498 | KBTBD13 | c.862G= (p.Val288=)
| |
15 | g.65077677G>T | CA392864087 | KBTBD13 | c.862G>T (p.Val288Leu)
| gnomAD v4 |
15 | g.65077678T>A | CA392864088 | KBTBD13 | c.863T>A (p.Val288Glu)
| |
15 | g.65077678T>C | CA392864090 | KBTBD13 | c.863T>C (p.Val288Ala)
| |
15 | g.65077678T>G | CA392864093 | KBTBD13 | c.863T>G (p.Val288Gly)
| |
15 | g.65077679G>A | CA490899304 | KBTBD13 | c.864G>A (p.Val288=)
| |
15 | g.65077679G>C | CA490899305 | KBTBD13 | c.864G>C (p.Val288=)
| |
15 | g.65077679G>T | CA490899303 | KBTBD13 | c.864G>T (p.Val288=)
| gnomAD v4 COSMIC |
15 | g.65077679_65077700delinsGGCCGACCTGCCGCAGCCGGCC | CA2183440504 | KBTBD13 | c.864_885delinsGGCCGACCTGCCGCAGCCGGCC (p.Val288=)
| |
15 | g.65077680G>A | CA392864094 | KBTBD13 | c.865G>A (p.Ala289Thr)
| gnomAD v4 |
15 | g.65077680G>C | CA392864095 | KBTBD13 | c.865G>C (p.Ala289Pro)
| |
15 | g.65077680G>T | CA392864097 | KBTBD13 | c.865G>T (p.Ala289Ser)
| gnomAD v4 |
15 | g.65077684_65077704del | CA7614003 | KBTBD13 | c.869_889del (p.Asp290_Ala296del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077681C>A | CA392864102 | KBTBD13 | c.866C>A (p.Ala289Asp)
| gnomAD v4 |
15 | g.65077681C>G | CA392864106 | KBTBD13 | c.866C>G (p.Ala289Gly)
| |
15 | g.65077681C>T | CA392864108 | KBTBD13 | c.866C>T (p.Ala289Val)
| gnomAD v4 |
15 | g.65077682C>A | CA16607124 | KBTBD13 | c.867C>A (p.Ala289=)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077682C= | CA2183440512 | KBTBD13 | c.867C= (p.Ala289=)
| |
15 | g.65077682C>G | CA490899306 | KBTBD13 | c.867C>G (p.Ala289=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077682C>T | CA490899307 | KBTBD13 | c.867C>T (p.Ala289=)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077683G>A | CA392864112 | KBTBD13 | c.868G>A (p.Asp290Asn)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077683G>C | CA392864118 | KBTBD13 | c.868G>C (p.Asp290His)
| dbSNP gnomAD v2 |
15 | g.65077683G= | CA2183440520 | KBTBD13 | c.868G= (p.Asp290=)
| |
15 | g.65077683G>T | CA392864116 | KBTBD13 | c.868G>T (p.Asp290Tyr)
| gnomAD v4 |
15 | g.65077684A= | CA2183440523 | KBTBD13 | c.869A= (p.Asp290=)
| |
15 | g.65077684A>C | CA271504286 | KBTBD13 | c.869A>C (p.Asp290Ala)
| dbSNP gnomAD v4 COSMIC |
15 | g.65077684A>G | CA392864121 | KBTBD13 | c.869A>G (p.Asp290Gly)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077684A>T | CA392864125 | KBTBD13 | c.869A>T (p.Asp290Val)
| |
15 | g.65077685C>A | CA392864129 | KBTBD13 | c.870C>A (p.Asp290Glu)
| |
15 | g.65077685C>G | CA392864130 | KBTBD13 | c.870C>G (p.Asp290Glu)
| gnomAD v4 |
15 | g.65077685C>T | CA490899310 | KBTBD13 | c.870C>T (p.Asp290=)
| gnomAD v4 |
15 | g.65077686C>A | CA392864136 | KBTBD13 | c.871C>A (p.Leu291Met)
| |
15 | g.65077686C= | CA2183440526 | KBTBD13 | c.871C= (p.Leu291=)
| |
15 | g.65077686C>G | CA392864137 | KBTBD13 | c.871C>G (p.Leu291Val)
| dbSNP gnomAD v4 |
15 | g.65077686C>T | CA490899311 | KBTBD13 | c.871C>T (p.Leu291=)
| dbSNP gnomAD v4 |
15 | g.65077687T>A | CA392864140 | KBTBD13 | c.872T>A (p.Leu291Gln)
| |
15 | g.65077687T>C | CA392864143 | KBTBD13 | c.872T>C (p.Leu291Pro)
| gnomAD v4 |
15 | g.65077687T>G | CA392864144 | KBTBD13 | c.872T>G (p.Leu291Arg)
| |
15 | g.65077687_65077693dup | CA2628987520 | KBTBD13 | c.872_878dup (p.Gln293HisfsTer?)
| gnomAD v4 |
15 | g.65077688G>A | CA490899313 | KBTBD13 | c.873G>A (p.Leu291=)
| gnomAD v4 |
15 | g.65077688G>C | CA490899315 | KBTBD13 | c.873G>C (p.Leu291=)
| |
15 | g.65077688G>T | CA490899317 | KBTBD13 | c.873G>T (p.Leu291=)
| gnomAD v4 |
15 | g.65077689C>A | CA392864147 | KBTBD13 | c.874C>A (p.Pro292Thr)
| gnomAD v4 |
15 | g.65077689C= | CA2183440529 | KBTBD13 | c.874C= (p.Pro292=)
| |
15 | g.65077689C>G | CA392864145 | KBTBD13 | c.874C>G (p.Pro292Ala)
| |
15 | g.65077689C>T | CA7614004 | KBTBD13 | c.874C>T (p.Pro292Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077690C>A | CA392864149 | KBTBD13 | c.875C>A (p.Pro292Gln)
| gnomAD v4 |
15 | g.65077690C= | CA2183440531 | KBTBD13 | c.875C= (p.Pro292=)
| |
15 | g.65077690C>G | CA392864156 | KBTBD13 | c.875C>G (p.Pro292Arg)
| gnomAD v4 |
15 | g.65077690C>T | CA7614005 | KBTBD13 | c.875C>T (p.Pro292Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077691G>A | CA7614006 | KBTBD13 | c.876G>A (p.Pro292=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077691G>C | CA490899320 | KBTBD13 | c.876G>C (p.Pro292=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077691G= | CA2183440537 | KBTBD13 | c.876G= (p.Pro292=)
| |
15 | g.65077691G>T | CA490899321 | KBTBD13 | c.876G>T (p.Pro292=)
| gnomAD v4 |
15 | g.65077692C>A | CA392864166 | KBTBD13 | c.877C>A (p.Gln293Lys)
| dbSNP gnomAD v4 |
15 | g.65077692C= | CA2183440543 | KBTBD13 | c.877C= (p.Gln293=)
| |
15 | g.65077692C>G | CA392864175 | KBTBD13 | c.877C>G (p.Gln293Glu)
| |
15 | g.65077692C>T | CA7614007 | KBTBD13 | c.877C>T (p.Gln293Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077693A= | CA2183440548 | KBTBD13 | c.878A= (p.Gln293=)
| |
15 | g.65077693A>C | CA392864181 | KBTBD13 | c.878A>C (p.Gln293Pro)
| |
15 | g.65077693A>G | CA392864190 | KBTBD13 | c.878A>G (p.Gln293Arg)
| dbSNP gnomAD v4 |
15 | g.65077693A>T | CA392864195 | KBTBD13 | c.878A>T (p.Gln293Leu)
| |
15 | g.65077693_65077700delinsAGCCGGCC | CA2183440546 | KBTBD13 | c.878_885delinsAGCCGGCC (p.Gln293=)
| |
15 | g.65077694G>A | CA490899322 | KBTBD13 | c.879G>A (p.Gln293=)
| gnomAD v4 |
15 | g.65077694G>C | CA392864196 | KBTBD13 | c.879G>C (p.Gln293His)
| gnomAD v4 |
15 | g.65077694G>T | CA392864199 | KBTBD13 | c.879G>T (p.Gln293His)
| gnomAD v4 |
15 | g.65077700_65077706dup | CA2575759314 | KBTBD13 | c.885_891dup (p.Val298ArgfsTer?)
| gnomAD v4 |
15 | g.65077700_65077706del | CA618956869 | KBTBD13 | c.885_891del (p.Ala296CysfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077695C>A | CA392864207 | KBTBD13 | c.880C>A (p.Pro294Thr)
| dbSNP gnomAD v4 |
15 | g.65077695C= | CA2183440555 | KBTBD13 | c.880C= (p.Pro294=)
| |
15 | g.65077695C>G | CA7614008 | KBTBD13 | c.880C>G (p.Pro294Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077695C>T | CA392864203 | KBTBD13 | c.880C>T (p.Pro294Ser)
| gnomAD v4 |
15 | g.65077696C>A | CA392864209 | KBTBD13 | c.881C>A (p.Pro294Gln)
| gnomAD v4 |
15 | g.65077696C= | CA2183440567 | KBTBD13 | c.881C= (p.Pro294=)
| |
15 | g.65077696C>G | CA392864210 | KBTBD13 | c.881C>G (p.Pro294Arg)
| |
15 | g.65077696C>T | CA7614009 | KBTBD13 | c.881C>T (p.Pro294Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077697G>A | CA7614010 | KBTBD13 | c.882G>A (p.Pro294=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077697G>C | CA7614011 | KBTBD13 | c.882G>C (p.Pro294=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.65077697G= | CA2183440573 | KBTBD13 | c.882G= (p.Pro294=)
| |
15 | g.65077697G>T | CA490899326 | KBTBD13 | c.882G>T (p.Pro294=)
| gnomAD v4 |
15 | g.65077698G>A | CA392864216 | KBTBD13 | c.883G>A (p.Ala295Thr)
| gnomAD v4 |
15 | g.65077698G>C | CA392864218 | KBTBD13 | c.883G>C (p.Ala295Pro)
| |
15 | g.65077698G>T | CA392864220 | KBTBD13 | c.883G>T (p.Ala295Ser)
| gnomAD v4 |
15 | g.65077699C>A | CA392864226 | KBTBD13 | c.884C>A (p.Ala295Asp)
| gnomAD v4 |
15 | g.65077699C= | CA2183440581 | KBTBD13 | c.884C= (p.Ala295=)
| |
15 | g.65077699C>G | CA392864232 | KBTBD13 | c.884C>G (p.Ala295Gly)
| dbSNP |
15 | g.65077699C>T | CA392864236 | KBTBD13 | c.884C>T (p.Ala295Val)
| gnomAD v4 |
15 | g.65077700C>A | CA490899330 | KBTBD13 | c.885C>A (p.Ala295=)
| gnomAD v4 |
15 | g.65077700C= | CA2183440584 | KBTBD13 | c.885C= (p.Ala295=)
| |
15 | g.65077700C>G | CA490899329 | KBTBD13 | c.885C>G (p.Ala295=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077700C>T | CA7614012 | KBTBD13 | c.885C>T (p.Ala295=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077701G>A | CA7614013 | KBTBD13 | c.886G>A (p.Ala296Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077701G>C | CA392864245 | KBTBD13 | c.886G>C (p.Ala296Pro)
| |
15 | g.65077701G= | CA2183440589 | KBTBD13 | c.886G= (p.Ala296=)
| |
15 | g.65077701G>T | CA392864242 | KBTBD13 | c.886G>T (p.Ala296Ser)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077702C>A | CA392864250 | KBTBD13 | c.887C>A (p.Ala296Asp)
| |
15 | g.65077702C= | CA2183440593 | KBTBD13 | c.887C= (p.Ala296=)
| |
15 | g.65077702C>G | CA392864256 | KBTBD13 | c.887C>G (p.Ala296Gly)
| |
15 | g.65077702C>T | CA392864253 | KBTBD13 | c.887C>T (p.Ala296Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077703del | CA2739269503 | KBTBD13 | c.888del (p.Gly297AlafsTer?)
| ClinVar |
15 | g.65077703C>A | CA490899334 | KBTBD13 | c.888C>A (p.Ala296=)
| gnomAD v4 |
15 | g.65077703C= | CA2183440600 | KBTBD13 | c.888C= (p.Ala296=)
| |
15 | g.65077703C>G | CA490899332 | KBTBD13 | c.888C>G (p.Ala296=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077703C>T | CA7614015 | KBTBD13 | c.888C>T (p.Ala296=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077703_65077704delinsCG | CA2183440602 | KBTBD13 | c.888_889delinsCG (p.Ala296=)
| |
15 | g.65077704G>A | CA392864263 | KBTBD13 | c.889G>A (p.Gly297Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077704G>C | CA392864265 | KBTBD13 | c.889G>C (p.Gly297Arg)
| gnomAD v4 |
15 | g.65077704G= | CA2183440604 | KBTBD13 | c.889G= (p.Gly297=)
| |
15 | g.65077704G>T | CA392864267 | KBTBD13 | c.889G>T (p.Gly297Cys)
| gnomAD v4 |
15 | g.65077705dup | CA970811163 | KBTBD13 | c.890dup (p.Val298ArgfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077705del | CA7614014 | KBTBD13 | c.890del (p.Gly297AlafsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077705G>A | CA392864273 | KBTBD13 | c.890G>A (p.Gly297Asp)
| gnomAD v4 |
15 | g.65077705G>C | CA392864277 | KBTBD13 | c.890G>C (p.Gly297Ala)
| |
15 | g.65077705G>T | CA392864278 | KBTBD13 | c.890G>T (p.Gly297Val)
| gnomAD v4 |
15 | g.65077706C>A | CA490899338 | KBTBD13 | c.891C>A (p.Gly297=)
| gnomAD v4 |
15 | g.65077706C= | CA2183440607 | KBTBD13 | c.891C= (p.Gly297=)
| |
15 | g.65077706C>G | CA490899339 | KBTBD13 | c.891C>G (p.Gly297=)
| |
15 | g.65077706C>T | CA7614016 | KBTBD13 | c.891C>T (p.Gly297=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077707G>A | CA271504349 | KBTBD13 | c.892G>A (p.Val298Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077707G>C | CA392864285 | KBTBD13 | c.892G>C (p.Val298Leu)
| ClinVar |
15 | g.65077707G= | CA2183440611 | KBTBD13 | c.892G= (p.Val298=)
| |
15 | g.65077707G>T | CA392864288 | KBTBD13 | c.892G>T (p.Val298Leu)
| gnomAD v4 |
15 | g.65077708T>A | CA392864299 | KBTBD13 | c.893T>A (p.Val298Glu)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077708T>C | CA392864293 | KBTBD13 | c.893T>C (p.Val298Ala)
| gnomAD v4 |
15 | g.65077708T>G | CA392864295 | KBTBD13 | c.893T>G (p.Val298Gly)
| |
15 | g.65077709G>A | CA490899341 | KBTBD13 | c.894G>A (p.Val298=)
| gnomAD v4 |
15 | g.65077709G>C | CA490899342 | KBTBD13 | c.894G>C (p.Val298=)
| |
15 | g.65077709G>T | CA490899343 | KBTBD13 | c.894G>T (p.Val298=)
| gnomAD v4 |
15 | g.65077710C>A | CA392864302 | KBTBD13 | c.895C>A (p.Pro299Thr)
| gnomAD v4 |
15 | g.65077710C>G | CA392864303 | KBTBD13 | c.895C>G (p.Pro299Ala)
| gnomAD v4 |
15 | g.65077710C>T | CA392864308 | KBTBD13 | c.895C>T (p.Pro299Ser)
| gnomAD v4 |