15 | g.65077679_65077700delinsGGCCGACCTGCCGCAGCCGGCC | CA2183440504 | KBTBD13 | c.864_885delinsGGCCGACCTGCCGCAGCCGGCC (p.Val288=)
| |
15 | g.65077684_65077704del | CA7614003 | KBTBD13 | c.869_889del (p.Asp290_Ala296del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077693_65077700delinsAGCCGGCC | CA2183440546 | KBTBD13 | c.878_885delinsAGCCGGCC (p.Gln293=)
| |
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.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 |
15 | g.65077711C>A | CA392864312 | KBTBD13 | c.896C>A (p.Pro299His)
| |
15 | g.65077711C= | CA2183440614 | KBTBD13 | c.896C= (p.Pro299=)
| |
15 | g.65077711C>G | CA392864314 | KBTBD13 | c.896C>G (p.Pro299Arg)
| |
15 | g.65077711C>T | CA392864315 | KBTBD13 | c.896C>T (p.Pro299Leu)
| dbSNP gnomAD v2 |
15 | g.65077712C>A | CA490899346 | KBTBD13 | c.897C>A (p.Pro299=)
| gnomAD v4 |
15 | g.65077712C>G | CA490899347 | KBTBD13 | c.897C>G (p.Pro299=)
| |
15 | g.65077712C>T | CA490899348 | KBTBD13 | c.897C>T (p.Pro299=)
| |
15 | g.65077713T>A | CA392864316 | KBTBD13 | c.898T>A (p.Cys300Ser)
| |
15 | g.65077713T>C | CA392864318 | KBTBD13 | c.898T>C (p.Cys300Arg)
| gnomAD v4 |
15 | g.65077713T>G | CA392864320 | KBTBD13 | c.898T>G (p.Cys300Gly)
| |
15 | g.65077714G>A | CA392864322 | KBTBD13 | c.899G>A (p.Cys300Tyr)
| dbSNP |
15 | g.65077714G>C | CA392864325 | KBTBD13 | c.899G>C (p.Cys300Ser)
| gnomAD v4 |
15 | g.65077714G= | CA2183440616 | KBTBD13 | c.899G= (p.Cys300=)
| |
15 | g.65077714G>T | CA392864327 | KBTBD13 | c.899G>T (p.Cys300Phe)
| dbSNP gnomAD v4 |
15 | g.65077715C>A | CA392864335 | KBTBD13 | c.900C>A (p.Cys300Ter)
| dbSNP gnomAD v4 |
15 | g.65077715C= | CA2183440619 | KBTBD13 | c.900C= (p.Cys300=)
| |
15 | g.65077715C>G | CA392864333 | KBTBD13 | c.900C>G (p.Cys300Trp)
| gnomAD v4 |
15 | g.65077715C>T | CA7614017 | KBTBD13 | c.900C>T (p.Cys300=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077716G>A | CA7614018 | KBTBD13 | c.901G>A (p.Ala301Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077716G>C | CA392864340 | KBTBD13 | c.901G>C (p.Ala301Pro)
| |
15 | g.65077716G= | CA2183440624 | KBTBD13 | c.901G= (p.Ala301=)
| |
15 | g.65077716G>T | CA392864344 | KBTBD13 | c.901G>T (p.Ala301Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077717C>A | CA392864350 | KBTBD13 | c.902C>A (p.Ala301Asp)
| gnomAD v4 |
15 | g.65077717C>G | CA392864352 | KBTBD13 | c.902C>G (p.Ala301Gly)
| |
15 | g.65077717C>T | CA392864356 | KBTBD13 | c.902C>T (p.Ala301Val)
| |
15 | g.65077718C>A | CA490899354 | KBTBD13 | c.903C>A (p.Ala301=)
| gnomAD v4 |
15 | g.65077718C>G | CA490899355 | KBTBD13 | c.903C>G (p.Ala301=)
| |
15 | g.65077718C>T | CA490899356 | KBTBD13 | c.903C>T (p.Ala301=)
| gnomAD v4 |
15 | g.65077719C>A | CA392864359 | KBTBD13 | c.904C>A (p.Gln302Lys)
| gnomAD v4 |
15 | g.65077719C>G | CA392864362 | KBTBD13 | c.904C>G (p.Gln302Glu)
| |
15 | g.65077719C>T | CA392864366 | KBTBD13 | c.904C>T (p.Gln302Ter)
| gnomAD v4 |
15 | g.65077720A= | CA2183440628 | KBTBD13 | c.905A= (p.Gln302=)
| |
15 | g.65077720A>C | CA392864369 | KBTBD13 | c.905A>C (p.Gln302Pro)
| gnomAD v4 |
15 | g.65077720A>G | CA7614019 | KBTBD13 | c.905A>G (p.Gln302Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077720A>T | CA392864374 | KBTBD13 | c.905A>T (p.Gln302Leu)
| |
15 | g.65077721G>A | CA490899360 | KBTBD13 | c.906G>A (p.Gln302=)
| |
15 | g.65077721G>C | CA392864379 | KBTBD13 | c.906G>C (p.Gln302His)
| |
15 | g.65077721G>T | CA392864381 | KBTBD13 | c.906G>T (p.Gln302His)
| gnomAD v4 |
15 | g.65077722G>A | CA392864383 | KBTBD13 | c.907G>A (p.Ala303Thr)
| gnomAD v4 |
15 | g.65077722G>C | CA392864384 | KBTBD13 | c.907G>C (p.Ala303Pro)
| gnomAD v4 |
15 | g.65077722G>T | CA392864382 | KBTBD13 | c.907G>T (p.Ala303Ser)
| gnomAD v4 |
15 | g.65077723C>A | CA392864387 | KBTBD13 | c.908C>A (p.Ala303Asp)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077723C= | CA2183440632 | KBTBD13 | c.908C= (p.Ala303=)
| |
15 | g.65077723C>G | CA392864389 | KBTBD13 | c.908C>G (p.Ala303Gly)
| gnomAD v4 |
15 | g.65077723C>T | CA271504353 | KBTBD13 | c.908C>T (p.Ala303Val)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077724T>A | CA490899362 | KBTBD13 | c.909T>A (p.Ala303=)
| |
15 | g.65077724T>C | CA490899363 | KBTBD13 | c.909T>C (p.Ala303=)
| |
15 | g.65077724T>G | CA490899364 | KBTBD13 | c.909T>G (p.Ala303=)
| |
15 | g.65077725T>A | CA392864393 | KBTBD13 | c.910T>A (p.Cys304Ser)
| COSMIC |
15 | g.65077725T>C | CA392864396 | KBTBD13 | c.910T>C (p.Cys304Arg)
| gnomAD v4 |
15 | g.65077725T>G | CA392864398 | KBTBD13 | c.910T>G (p.Cys304Gly)
| |
15 | g.65077726G>A | CA392864401 | KBTBD13 | c.911G>A (p.Cys304Tyr)
| gnomAD v4 |
15 | g.65077726G>C | CA392864404 | KBTBD13 | c.911G>C (p.Cys304Ser)
| |
15 | g.65077726G>T | CA392864403 | KBTBD13 | c.911G>T (p.Cys304Phe)
| gnomAD v4 |
15 | g.65077727T>A | CA392864408 | KBTBD13 | c.912T>A (p.Cys304Ter)
| gnomAD v4 |
15 | g.65077727T>C | CA490899365 | KBTBD13 | c.912T>C (p.Cys304=)
| gnomAD v4 |
15 | g.65077727T>G | CA7614020 | KBTBD13 | c.912T>G (p.Cys304Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077727T= | CA2183440637 | KBTBD13 | c.912T= (p.Cys304=)
| |
15 | g.65077728G>A | CA392864412 | KBTBD13 | c.913G>A (p.Gly305Ser)
| dbSNP gnomAD v4 |
15 | g.65077728G>C | CA392864413 | KBTBD13 | c.913G>C (p.Gly305Arg)
| |
15 | g.65077728G= | CA2183440641 | KBTBD13 | c.913G= (p.Gly305=)
| |
15 | g.65077728G>T | CA392864414 | KBTBD13 | c.913G>T (p.Gly305Cys)
| gnomAD v4 |
15 | g.65077729G>A | CA392864421 | KBTBD13 | c.914G>A (p.Gly305Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077729G>C | CA392864422 | KBTBD13 | c.914G>C (p.Gly305Ala)
| |
15 | g.65077729G= | CA2183440645 | KBTBD13 | c.914G= (p.Gly305=)
| |
15 | g.65077729G>T | CA392864417 | KBTBD13 | c.914G>T (p.Gly305Val)
| gnomAD v4 |
15 | g.65077730C>A | CA490899372 | KBTBD13 | c.915C>A (p.Gly305=)
| gnomAD v4 |
15 | g.65077730C= | CA2183440647 | KBTBD13 | c.915C= (p.Gly305=)
| |
15 | g.65077730C>G | CA490899374 | KBTBD13 | c.915C>G (p.Gly305=)
| gnomAD v4 |
15 | g.65077730C>T | CA490899376 | KBTBD13 | c.915C>T (p.Gly305=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077731C>A | CA7614021 | KBTBD13 | c.916C>A (p.Arg306Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.65077731C= | CA2183440650 | KBTBD13 | c.916C= (p.Arg306=)
| |
15 | g.65077731C>G | CA392864431 | KBTBD13 | c.916C>G (p.Arg306Gly)
| |
15 | g.65077731C>T | CA7614022 | KBTBD13 | c.916C>T (p.Arg306Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077732G>A | CA392864435 | KBTBD13 | c.917G>A (p.Arg306His)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077732G>C | CA392864437 | KBTBD13 | c.917G>C (p.Arg306Pro)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077732G= | CA2183440653 | KBTBD13 | c.917G= (p.Arg306=)
| |
15 | g.65077732G>T | CA392864441 | KBTBD13 | c.917G>T (p.Arg306Leu)
| gnomAD v4 |
15 | g.65077733T>A | CA490899379 | KBTBD13 | c.918T>A (p.Arg306=)
| |
15 | g.65077733T>C | CA490899381 | KBTBD13 | c.918T>C (p.Arg306=)
| |
15 | g.65077733T>G | CA490899380 | KBTBD13 | c.918T>G (p.Arg306=)
| |
15 | g.65077734C>A | CA392864444 | KBTBD13 | c.919C>A (p.Leu307Ile)
| gnomAD v4 |
15 | g.65077734C= | CA2183440656 | KBTBD13 | c.919C= (p.Leu307=)
| |
15 | g.65077734C>G | CA392864447 | KBTBD13 | c.919C>G (p.Leu307Val)
| gnomAD v4 |
15 | g.65077734C>T | CA392864450 | KBTBD13 | c.919C>T (p.Leu307Phe)
| dbSNP |
15 | g.65077735T>A | CA392864454 | KBTBD13 | c.920T>A (p.Leu307His)
| |
15 | g.65077735T>C | CA392864457 | KBTBD13 | c.920T>C (p.Leu307Pro)
| gnomAD v4 |
15 | g.65077735T>G | CA392864460 | KBTBD13 | c.920T>G (p.Leu307Arg)
| |
15 | g.65077736C>A | CA490899385 | KBTBD13 | c.921C>A (p.Leu307=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077736C= | CA2183440660 | KBTBD13 | c.921C= (p.Leu307=)
| |
15 | g.65077736C>G | CA490899386 | KBTBD13 | c.921C>G (p.Leu307=)
| gnomAD v4 |
15 | g.65077736C>T | CA7614023 | KBTBD13 | c.921C>T (p.Leu307=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077737T>A | CA392864474 | KBTBD13 | c.922T>A (p.Phe308Ile)
| |
15 | g.65077737T>C | CA392864470 | KBTBD13 | c.922T>C (p.Phe308Leu)
| gnomAD v4 |
15 | g.65077737T>G | CA392864468 | KBTBD13 | c.922T>G (p.Phe308Val)
| |
15 | g.65077738T>A | CA392864475 | KBTBD13 | c.923T>A (p.Phe308Tyr)
| |
15 | g.65077738T>C | CA392864476 | KBTBD13 | c.923T>C (p.Phe308Ser)
| gnomAD v4 |
15 | g.65077738T>G | CA392864479 | KBTBD13 | c.923T>G (p.Phe308Cys)
| |
15 | g.65077739C>A | CA392864483 | KBTBD13 | c.924C>A (p.Phe308Leu)
| gnomAD v4 |
15 | g.65077739C= | CA2183440668 | KBTBD13 | c.924C= (p.Phe308=)
| |
15 | g.65077739C>G | CA392864486 | KBTBD13 | c.924C>G (p.Phe308Leu)
| |
15 | g.65077739C>T | CA10646455 | KBTBD13 | c.924C>T (p.Phe308=)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077740G>A | CA392864491 | KBTBD13 | c.925G>A (p.Val309Met)
| |
15 | g.65077740G>C | CA7614024 | KBTBD13 | c.925G>C (p.Val309Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077740G= | CA2183440674 | KBTBD13 | c.925G= (p.Val309=)
| |
15 | g.65077740G>T | CA392864496 | KBTBD13 | c.925G>T (p.Val309Leu)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077741T>A | CA392864502 | KBTBD13 | c.926T>A (p.Val309Glu)
| |
15 | g.65077741T>C | CA392864506 | KBTBD13 | c.926T>C (p.Val309Ala)
| |
15 | g.65077741T>G | CA392864509 | KBTBD13 | c.926T>G (p.Val309Gly)
| |
15 | g.65077742G>A | CA490899396 | KBTBD13 | c.927G>A (p.Val309=)
| |
15 | g.65077742G>C | CA490899395 | KBTBD13 | c.927G>C (p.Val309=)
| dbSNP gnomAD v2 |
15 | g.65077742G= | CA2183440677 | KBTBD13 | c.927G= (p.Val309=)
| |
15 | g.65077742G>T | CA490899394 | KBTBD13 | c.927G>T (p.Val309=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077743T>A | CA392864515 | KBTBD13 | c.928T>A (p.Cys310Ser)
| |
15 | g.65077743T>C | CA392864517 | KBTBD13 | c.928T>C (p.Cys310Arg)
| |
15 | g.65077743T>G | CA392864513 | KBTBD13 | c.928T>G (p.Cys310Gly)
| dbSNP |
15 | g.65077743T= | CA2183440681 | KBTBD13 | c.928T= (p.Cys310=)
| |
15 | g.65077744G>A | CA392864522 | KBTBD13 | c.929G>A (p.Cys310Tyr)
| dbSNP gnomAD v2 |
15 | g.65077744G>C | CA392864523 | KBTBD13 | c.929G>C (p.Cys310Ser)
| |
15 | g.65077744G= | CA2183440687 | KBTBD13 | c.929G= (p.Cys310=)
| |
15 | g.65077744G>T | CA392864527 | KBTBD13 | c.929G>T (p.Cys310Phe)
| gnomAD v4 |
15 | g.65077745C>A | CA392864531 | KBTBD13 | c.930C>A (p.Cys310Ter)
| gnomAD v4 |
15 | g.65077745C>G | CA392864535 | KBTBD13 | c.930C>G (p.Cys310Trp)
| gnomAD v4 |
15 | g.65077745C>T | CA490899401 | KBTBD13 | c.930C>T (p.Cys310=)
| gnomAD v4 |
15 | g.65077746C>A | CA392864540 | KBTBD13 | c.931C>A (p.Leu311Met)
| dbSNP gnomAD v4 |
15 | g.65077746C= | CA2183440690 | KBTBD13 | c.931C= (p.Leu311=)
| |
15 | g.65077746C>G | CA392864541 | KBTBD13 | c.931C>G (p.Leu311Val)
| |
15 | g.65077746C>T | CA490899403 | KBTBD13 | c.931C>T (p.Leu311=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077747T>A | CA392864547 | KBTBD13 | c.932T>A (p.Leu311Gln)
| |
15 | g.65077747T>C | CA392864550 | KBTBD13 | c.932T>C (p.Leu311Pro)
| gnomAD v4 |
15 | g.65077747T>G | CA392864553 | KBTBD13 | c.932T>G (p.Leu311Arg)
| |
15 | g.65077748G>A | CA271504402 | KBTBD13 | c.933G>A (p.Leu311=)
| dbSNP |
15 | g.65077748G>C | CA490899404 | KBTBD13 | c.933G>C (p.Leu311=)
| |
15 | g.65077748G= | CA2183440694 | KBTBD13 | c.933G= (p.Leu311=)
| |
15 | g.65077748G>T | CA490899406 | KBTBD13 | c.933G>T (p.Leu311=)
| gnomAD v4 |
15 | g.65077749T>A | CA392864557 | KBTBD13 | c.934T>A (p.Trp312Arg)
| |
15 | g.65077749T>C | CA392864560 | KBTBD13 | c.934T>C (p.Trp312Arg)
| |
15 | g.65077749T>G | CA392864562 | KBTBD13 | c.934T>G (p.Trp312Gly)
| ClinVar dbSNP |
15 | g.65077749T= | CA2183440696 | KBTBD13 | c.934T= (p.Trp312=)
| |
15 | g.65077750G>A | CA392864571 | KBTBD13 | c.935G>A (p.Trp312Ter)
| |
15 | g.65077750G>C | CA392864567 | KBTBD13 | c.935G>C (p.Trp312Ser)
| |
15 | g.65077750G>T | CA392864565 | KBTBD13 | c.935G>T (p.Trp312Leu)
| gnomAD v4 |
15 | g.65077751G>A | CA392864574 | KBTBD13 | c.936G>A (p.Trp312Ter)
| dbSNP gnomAD v2 |
15 | g.65077751G>C | CA392864576 | KBTBD13 | c.936G>C (p.Trp312Cys)
| |
15 | g.65077751G= | CA2183440698 | KBTBD13 | c.936G= (p.Trp312=)
| |
15 | g.65077751G>T | CA392864580 | KBTBD13 | c.936G>T (p.Trp312Cys)
| gnomAD v4 |
15 | g.65077752C>A | CA490899412 | KBTBD13 | c.937C>A (p.Arg313=)
| dbSNP |
15 | g.65077752C= | CA2183440702 | KBTBD13 | c.937C= (p.Arg313=)
| |
15 | g.65077752C>G | CA392864582 | KBTBD13 | c.937C>G (p.Arg313Gly)
| |
15 | g.65077752C>T | CA392864585 | KBTBD13 | c.937C>T (p.Arg313Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077753G>A | CA392864591 | KBTBD13 | c.938G>A (p.Arg313Gln)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077753G>C | CA392864593 | KBTBD13 | c.938G>C (p.Arg313Pro)
| |
15 | g.65077753G= | CA2183440708 | KBTBD13 | c.938G= (p.Arg313=)
| |
15 | g.65077753G>T | CA392864595 | KBTBD13 | c.938G>T (p.Arg313Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077754dup | CA392864588 | KBTBD13 | c.939dup (p.Pro314AlafsTer?)
| dbSNP |
15 | g.65077754G>A | CA7614025 | KBTBD13 | c.939G>A (p.Arg313=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077754G>C | CA490899416 | KBTBD13 | c.939G>C (p.Arg313=)
| |
15 | g.65077754G= | CA2183440720 | KBTBD13 | c.939G= (p.Arg313=)
| |
15 | g.65077754G>T | CA490899417 | KBTBD13 | c.939G>T (p.Arg313=)
| gnomAD v4 |
15 | g.65077754_65077755delinsAT | CA1139664034 | KBTBD13 | c.939_940delinsAT (p.Pro314Ser)
| ClinVar dbSNP |
15 | g.65077754_65077755delinsGC | CA2183440716 | KBTBD13 | c.939_940delinsGC (p.Arg313=)
| |
15 | g.65077755C>A | CA392864605 | KBTBD13 | c.940C>A (p.Pro314Thr)
| |
15 | g.65077755C= | CA2183440723 | KBTBD13 | c.940C= (p.Pro314=)
| |
15 | g.65077755C>G | CA392864606 | KBTBD13 | c.940C>G (p.Pro314Ala)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077755C>T | CA7614026 | KBTBD13 | c.940C>T (p.Pro314Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077756C>A | CA392864611 | KBTBD13 | c.941C>A (p.Pro314Gln)
| |
15 | g.65077756C= | CA2183440726 | KBTBD13 | c.941C= (p.Pro314=)
| |
15 | g.65077756C>G | CA392864616 | KBTBD13 | c.941C>G (p.Pro314Arg)
| |
15 | g.65077756C>T | CA392864613 | KBTBD13 | c.941C>T (p.Pro314Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077757G>A | CA490899424 | KBTBD13 | c.942G>A (p.Pro314=)
| |
15 | g.65077757G>C | CA490899422 | KBTBD13 | c.942G>C (p.Pro314=)
| |
15 | g.65077757G>T | CA490899423 | KBTBD13 | c.942G>T (p.Pro314=)
| gnomAD v4 |
15 | g.65077758G>A | CA392864619 | KBTBD13 | c.943G>A (p.Ala315Thr)
| gnomAD v4 |
15 | g.65077758G>C | CA392864626 | KBTBD13 | c.943G>C (p.Ala315Pro)
| |
15 | g.65077758G= | CA2183440730 | KBTBD13 | c.943G= (p.Ala315=)
| |
15 | g.65077758G>T | CA392864622 | KBTBD13 | c.943G>T (p.Ala315Ser)
| gnomAD v4 |
15 | g.65077759C>A | CA392864629 | KBTBD13 | c.944C>A (p.Ala315Asp)
| |
15 | g.65077759C>G | CA392864631 | KBTBD13 | c.944C>G (p.Ala315Gly)
| |
15 | g.65077759C>T | CA392864635 | KBTBD13 | c.944C>T (p.Ala315Val)
| gnomAD v4 |
15 | g.65077760_65077763dup | CA714889571 | KBTBD13 | c.945_948dup (p.Thr317ArgfsTer?)
| dbSNP |
15 | g.65077760C>A | CA490899427 | KBTBD13 | c.945C>A (p.Ala315=)
| gnomAD v4 |
15 | g.65077760C>G | CA490899429 | KBTBD13 | c.945C>G (p.Ala315=)
| dbSNP |
15 | g.65077760C>T | CA490899430 | KBTBD13 | c.945C>T (p.Ala315=)
| gnomAD v4 |
15 | g.65077761_65077763del | CA2731062336 | KBTBD13 | c.946_948del (p.Asp316del)
| dbSNP |
15 | g.65077761G>A | CA392864640 | KBTBD13 | c.946G>A (p.Asp316Asn)
| ClinVar dbSNP |
15 | g.65077761G>C | CA392864643 | KBTBD13 | c.946G>C (p.Asp316His)
| |
15 | g.65077761G>T | CA392864646 | KBTBD13 | c.946G>T (p.Asp316Tyr)
| gnomAD v4 |
15 | g.65077762A= | CA2183440733 | KBTBD13 | c.947A= (p.Asp316=)
| |
15 | g.65077762A>C | CA271504405 | KBTBD13 | c.947A>C (p.Asp316Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077762A>G | CA392864652 | KBTBD13 | c.947A>G (p.Asp316Gly)
| gnomAD v4 |
15 | g.65077762A>T | CA392864658 | KBTBD13 | c.947A>T (p.Asp316Val)
| |
15 | g.65077763C>A | CA392864661 | KBTBD13 | c.948C>A (p.Asp316Glu)
| |
15 | g.65077763C= | CA2183440735 | KBTBD13 | c.948C= (p.Asp316=)
| |
15 | g.65077763C>G | CA392864663 | KBTBD13 | c.948C>G (p.Asp316Glu)
| |
15 | g.65077763C>T | CA7614027 | KBTBD13 | c.948C>T (p.Asp316=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077764del | CA2573151046 | KBTBD13 | c.949del (p.Thr317ProfsTer?)
| ClinVar dbSNP |
15 | g.65077764A= | CA2183440738 | KBTBD13 | c.949A= (p.Thr317=)
| |
15 | g.65077764A>C | CA392864669 | KBTBD13 | c.949A>C (p.Thr317Pro)
| |
15 | g.65077764A>G | CA392864665 | KBTBD13 | c.949A>G (p.Thr317Ala)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077764A>T | CA392864667 | KBTBD13 | c.949A>T (p.Thr317Ser)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077765C>A | CA392864671 | KBTBD13 | c.950C>A (p.Thr317Asn)
| gnomAD v4 |
15 | g.65077765C>G | CA392864673 | KBTBD13 | c.950C>G (p.Thr317Ser)
| |
15 | g.65077765C>T | CA392864675 | KBTBD13 | c.950C>T (p.Thr317Ile)
| |
15 | g.65077766C>A | CA490899437 | KBTBD13 | c.951C>A (p.Thr317=)
| |
15 | g.65077766C= | CA2183440741 | KBTBD13 | c.951C= (p.Thr317=)
| |
15 | g.65077766C>G | CA490899438 | KBTBD13 | c.951C>G (p.Thr317=)
| |
15 | g.65077766C>T | CA490899439 | KBTBD13 | c.951C>T (p.Thr317=)
| dbSNP |
15 | g.65077767A>C | CA392864678 | KBTBD13 | c.952A>C (p.Thr318Pro)
| |
15 | g.65077767A>G | CA392864680 | KBTBD13 | c.952A>G (p.Thr318Ala)
| gnomAD v4 |
15 | g.65077767A>T | CA392864683 | KBTBD13 | c.952A>T (p.Thr318Ser)
| |
15 | g.65077768C>A | CA392864686 | KBTBD13 | c.953C>A (p.Thr318Asn)
| |
15 | g.65077768C>G | CA392864688 | KBTBD13 | c.953C>G (p.Thr318Ser)
| |
15 | g.65077768C>T | CA392864689 | KBTBD13 | c.953C>T (p.Thr318Ile)
| |
15 | g.65077769C>A | CA490898909 | KBTBD13 | c.954C>A (p.Thr318=)
| gnomAD v4 |
15 | g.65077769C= | CA2183440748 | KBTBD13 | c.954C= (p.Thr318=)
| |
15 | g.65077769C>G | CA153252 | KBTBD13 | c.954C>G (p.Thr318=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077769C>T | CA7614028 | KBTBD13 | c.954C>T (p.Thr318=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077770G>A | CA392864697 | KBTBD13 | c.955G>A (p.Ala319Thr)
| dbSNP gnomAD v4 |
15 | g.65077770G>C | CA392864694 | KBTBD13 | c.955G>C (p.Ala319Pro)
| |
15 | g.65077770G= | CA2183440756 | KBTBD13 | c.955G= (p.Ala319=)
| |
15 | g.65077770G>T | CA392864693 | KBTBD13 | c.955G>T (p.Ala319Ser)
| gnomAD v4 |
15 | g.65077770_65077771delinsGC | CA2183440759 | KBTBD13 | c.955_956delinsGC (p.Ala319=)
| |
15 | g.65077771C>A | CA392864704 | KBTBD13 | c.956C>A (p.Ala319Asp)
| |
15 | g.65077771C>G | CA392864699 | KBTBD13 | c.956C>G (p.Ala319Gly)
| |
15 | g.65077771C>T | CA392864702 | KBTBD13 | c.956C>T (p.Ala319Val)
| gnomAD v4 |
15 | g.65077772del | CA2183440763 | KBTBD13 | c.957del (p.Val320TrpfsTer?)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077772C>A | CA490898917 | KBTBD13 | c.957C>A (p.Ala319=)
| |
15 | g.65077772C= | CA2183440767 | KBTBD13 | c.957C= (p.Ala319=)
| |
15 | g.65077772C>G | CA490898919 | KBTBD13 | c.957C>G (p.Ala319=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077772C>T | CA271504413 | KBTBD13 | c.957C>T (p.Ala319=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077773G>A | CA271504416 | KBTBD13 | c.958G>A (p.Val320Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077773G>C | CA392864707 | KBTBD13 | c.958G>C (p.Val320Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077773G= | CA2183440770 | KBTBD13 | c.958G= (p.Val320=)
| |
15 | g.65077773G>T | CA7614029 | KBTBD13 | c.958G>T (p.Val320Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077773dup | CA2628987714 | KBTBD13 | c.958dup (p.Val320GlyfsTer?)
| gnomAD v4 |
15 | g.65077774T>A | CA392864710 | KBTBD13 | c.959T>A (p.Val320Glu)
| |
15 | g.65077774T>C | CA392864712 | KBTBD13 | c.959T>C (p.Val320Ala)
| gnomAD v4 |
15 | g.65077774T>G | CA392864714 | KBTBD13 | c.959T>G (p.Val320Gly)
| |
15 | g.65077775G>A | CA490898923 | KBTBD13 | c.960G>A (p.Val320=)
| dbSNP gnomAD v4 |
15 | g.65077775G>C | CA490898925 | KBTBD13 | c.960G>C (p.Val320=)
| |
15 | g.65077775G= | CA2183440777 | KBTBD13 | c.960G= (p.Val320=)
| |
15 | g.65077775G>T | CA490898927 | KBTBD13 | c.960G>T (p.Val320=)
| |
15 | g.65077776G>A | CA7614030 | KBTBD13 | c.961G>A (p.Val321Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077776G>C | CA392864719 | KBTBD13 | c.961G>C (p.Val321Leu)
| |
15 | g.65077776G= | CA2183440782 | KBTBD13 | c.961G= (p.Val321=)
| |
15 | g.65077776G>T | CA392864721 | KBTBD13 | c.961G>T (p.Val321Leu)
| |
15 | g.65077777T>A | CA392864724 | KBTBD13 | c.962T>A (p.Val321Glu)
| |
15 | g.65077777T>C | CA392864726 | KBTBD13 | c.962T>C (p.Val321Ala)
| |
15 | g.65077777T>G | CA392864728 | KBTBD13 | c.962T>G (p.Val321Gly)
| |
15 | g.65077778G>A | CA7614031 | KBTBD13 | c.963G>A (p.Val321=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077778G>C | CA490898929 | KBTBD13 | c.963G>C (p.Val321=)
| |
15 | g.65077778G= | CA2183440784 | KBTBD13 | c.963G= (p.Val321=)
| |
15 | g.65077778G>T | CA490898930 | KBTBD13 | c.963G>T (p.Val321=)
| |
15 | g.65077778_65077789delinsGGAGTACGCAGT | CA2183440786 | KBTBD13 | c.963_974delinsGGAGTACGCAGT (p.Val321=)
| |
15 | g.65077779G>A | CA392864732 | KBTBD13 | c.964G>A (p.Glu322Lys)
| gnomAD v4 COSMIC |
15 | g.65077779G>C | CA392864734 | KBTBD13 | c.964G>C (p.Glu322Gln)
| |
15 | g.65077779G>T | CA392864736 | KBTBD13 | c.964G>T (p.Glu322Ter)
| gnomAD v4 |
15 | g.65077780_65077790del | CA2183440788 | KBTBD13 | c.965_975del (p.Glu322AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077780A>C | CA392864739 | KBTBD13 | c.965A>C (p.Glu322Ala)
| |
15 | g.65077780A>G | CA392864741 | KBTBD13 | c.965A>G (p.Glu322Gly)
| gnomAD v4 |
15 | g.65077780A>T | CA392864744 | KBTBD13 | c.965A>T (p.Glu322Val)
| |
15 | g.65077783_65077789dup | CA2628987725 | KBTBD13 | c.968_974dup (p.Thr327SerfsTer?)
| gnomAD v4 |
15 | g.65077781G>A | CA490898937 | KBTBD13 | c.966G>A (p.Glu322=)
| dbSNP gnomAD v4 |
15 | g.65077781G>C | CA392864747 | KBTBD13 | c.966G>C (p.Glu322Asp)
| |
15 | g.65077781G= | CA2183440790 | KBTBD13 | c.966G= (p.Glu322=)
| |
15 | g.65077781G>T | CA392864749 | KBTBD13 | c.966G>T (p.Glu322Asp)
| gnomAD v4 |
15 | g.65077782T>A | CA392864751 | KBTBD13 | c.967T>A (p.Tyr323Asn)
| |
15 | g.65077782T>C | CA392864753 | KBTBD13 | c.967T>C (p.Tyr323His)
| |
15 | g.65077782T>G | CA392864755 | KBTBD13 | c.967T>G (p.Tyr323Asp)
| |
15 | g.65077783A>C | CA392864767 | KBTBD13 | c.968A>C (p.Tyr323Ser)
| |
15 | g.65077783A>G | CA392864772 | KBTBD13 | c.968A>G (p.Tyr323Cys)
| gnomAD v4 |
15 | g.65077783A>T | CA392864778 | KBTBD13 | c.968A>T (p.Tyr323Phe)
| |
15 | g.65077784C>A | CA392864784 | KBTBD13 | c.969C>A (p.Tyr323Ter)
| gnomAD v4 |
15 | g.65077784C= | CA2183440795 | KBTBD13 | c.969C= (p.Tyr323=)
| |
15 | g.65077784C>G | CA7614032 | KBTBD13 | c.969C>G (p.Tyr323Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077784C>T | CA7614033 | KBTBD13 | c.969C>T (p.Tyr323=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077785G>A | CA392864790 | KBTBD13 | c.970G>A (p.Ala324Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077785G>C | CA392864794 | KBTBD13 | c.970G>C (p.Ala324Pro)
| |
15 | g.65077785G= | CA2183440799 | KBTBD13 | c.970G= (p.Ala324=)
| |
15 | g.65077785G>T | CA392864793 | KBTBD13 | c.970G>T (p.Ala324Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077786C>A | CA392864795 | KBTBD13 | c.971C>A (p.Ala324Glu)
| |
15 | g.65077786C>G | CA392864798 | KBTBD13 | c.971C>G (p.Ala324Gly)
| |
15 | g.65077786C>T | CA392864801 | KBTBD13 | c.971C>T (p.Ala324Val)
| |
15 | g.65077787A= | CA2183440802 | KBTBD13 | c.972A= (p.Ala324=)
| |
15 | g.65077787A>C | CA490898945 | KBTBD13 | c.972A>C (p.Ala324=)
| |
15 | g.65077787A>G | CA7614034 | KBTBD13 | c.972A>G (p.Ala324=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077787A>T | CA490898943 | KBTBD13 | c.972A>T (p.Ala324=)
| dbSNP |
15 | g.65077788G>A | CA392864806 | KBTBD13 | c.973G>A (p.Val325Met)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077788G>C | CA392864807 | KBTBD13 | c.973G>C (p.Val325Leu)
| |
15 | g.65077788G= | CA2183440805 | KBTBD13 | c.973G= (p.Val325=)
| |
15 | g.65077788G>T | CA7614035 | KBTBD13 | c.973G>T (p.Val325Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077789T>A | CA392864811 | KBTBD13 | c.974T>A (p.Val325Glu)
| |
15 | g.65077789T>C | CA392864812 | KBTBD13 | c.974T>C (p.Val325Ala)
| gnomAD v4 |
15 | g.65077789T>G | CA392864814 | KBTBD13 | c.974T>G (p.Val325Gly)
| gnomAD v4 |
15 | g.65077790G>A | CA490898949 | KBTBD13 | c.975G>A (p.Val325=)
| gnomAD v4 |
15 | g.65077790G>C | CA490898951 | KBTBD13 | c.975G>C (p.Val325=)
| |
15 | g.65077790G>T | CA490898950 | KBTBD13 | c.975G>T (p.Val325=)
| |
15 | g.65077791C>A | CA490898952 | KBTBD13 | c.976C>A (p.Arg326=)
| dbSNP gnomAD v4 |
15 | g.65077791C= | CA2183440809 | KBTBD13 | c.976C= (p.Arg326=)
| |
15 | g.65077791C>G | CA392864816 | KBTBD13 | c.976C>G (p.Arg326Gly)
| |
15 | g.65077791C>T | CA271504456 | KBTBD13 | c.976C>T (p.Arg326Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077791_65077792delinsCG | CA2183440810 | KBTBD13 | c.976_977delinsCG (p.Arg326=)
| |
15 | g.65077792G>A | CA7614036 | KBTBD13 | c.977G>A (p.Arg326Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077792G>C | CA392864822 | KBTBD13 | c.977G>C (p.Arg326Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077792G= | CA2183440819 | KBTBD13 | c.977G= (p.Arg326=)
| |
15 | g.65077792G>T | CA392864821 | KBTBD13 | c.977G>T (p.Arg326Leu)
| |
15 | g.65077793del | CA2183440817 | KBTBD13 | c.978del (p.Thr327ProfsTer?)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077793G>A | CA490898955 | KBTBD13 | c.978G>A (p.Arg326=)
| |
15 | g.65077793G>C | CA490898956 | KBTBD13 | c.978G>C (p.Arg326=)
| |
15 | g.65077793G>T | CA490898957 | KBTBD13 | c.978G>T (p.Arg326=)
| gnomAD v4 |
15 | g.65077794A>C | CA392864823 | KBTBD13 | c.979A>C (p.Thr327Pro)
| gnomAD v4 |
15 | g.65077794A>G | CA392864824 | KBTBD13 | c.979A>G (p.Thr327Ala)
| |
15 | g.65077794A>T | CA392864826 | KBTBD13 | c.979A>T (p.Thr327Ser)
| |
15 | g.65077795C>A | CA392864827 | KBTBD13 | c.980C>A (p.Thr327Asn)
| |
15 | g.65077795C>G | CA392864828 | KBTBD13 | c.980C>G (p.Thr327Ser)
| |
15 | g.65077795C>T | CA392864830 | KBTBD13 | c.980C>T (p.Thr327Ile)
| |
15 | g.65077796C>A | CA490898958 | KBTBD13 | c.981C>A (p.Thr327=)
| gnomAD v4 |
15 | g.65077796C= | CA2183440827 | KBTBD13 | c.981C= (p.Thr327=)
| |
15 | g.65077796C>G | CA7614037 | KBTBD13 | c.981C>G (p.Thr327=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077796C>T | CA490898959 | KBTBD13 | c.981C>T (p.Thr327=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077797G>A | CA392864832 | KBTBD13 | c.982G>A (p.Asp328Asn)
| gnomAD v4 |
15 | g.65077797G>C | CA392864833 | KBTBD13 | c.982G>C (p.Asp328His)
| |
15 | g.65077797G= | CA2183440833 | KBTBD13 | c.982G= (p.Asp328=)
| |
15 | g.65077797G>T | CA271504464 | KBTBD13 | c.982G>T (p.Asp328Tyr)
| dbSNP gnomAD v4 |
15 | g.65077798A>C | CA392864838 | KBTBD13 | c.983A>C (p.Asp328Ala)
| |
15 | g.65077798A>G | CA392864840 | KBTBD13 | c.983A>G (p.Asp328Gly)
| |
15 | g.65077798A>T | CA392864837 | KBTBD13 | c.983A>T (p.Asp328Val)
| |
15 | g.65077799C>A | CA392864843 | KBTBD13 | c.984C>A (p.Asp328Glu)
| gnomAD v4 |
15 | g.65077799C= | CA2183440837 | KBTBD13 | c.984C= (p.Asp328=)
| |
15 | g.65077799C>G | CA392864844 | KBTBD13 | c.984C>G (p.Asp328Glu)
| |
15 | g.65077799C>T | CA490898965 | KBTBD13 | c.984C>T (p.Asp328=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |