9 | g.137458955_137459051del | CA2552553254 | NSMF | c.52_71+77del
| |
9 | g.137459021_137459029dup | CA2692848395 | NSMF | c.71+4_71+12dup (n.71+4_71+12dup)
| gnomAD v4 |
9 | g.137459029_137459037del | CA2692848398 | NSMF | c.71+2_71+10del
| gnomAD v4 |
9 | g.137459023C>A | CA2692848401 | NSMF | c.71+9G>T (n.71+9G>T)
| gnomAD v4 |
9 | g.137459023C= | CA1884498509 | NSMF | c.71+9G= (n.71+9G=)
| |
9 | g.137459023C>G | CA2692848402 | NSMF | c.71+9G>C (n.71+9G>C)
| gnomAD v4 |
9 | g.137459023C>T | CA292612 | NSMF | c.71+9G>A (n.71+9G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459024G>A | CA591232627 | NSMF | c.71+8C>T (n.71+8C>T)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137459024G>C | CA2692848403 | NSMF | c.71+8C>G (n.71+8C>G)
| gnomAD v4 |
9 | g.137459024G= | CA1884498510 | NSMF | c.71+8C= (n.71+8C=)
| |
9 | g.137459024G>T | CA2692848404 | NSMF | c.71+8C>A (n.71+8C>A)
| gnomAD v4 |
9 | g.137459025C>A | CA2692848405 | NSMF | c.71+7G>T (n.71+7G>T)
| gnomAD v4 |
9 | g.137459025C>T | CA2692848406 | NSMF | c.71+7G>A (n.71+7G>A)
| gnomAD v4 |
9 | g.137459026A>G | CA2692848407 | NSMF | c.71+6T>C (n.71+6T>C)
| gnomAD v4 |
9 | g.137459027C>A | CA2692848408 | NSMF | c.71+5G>T (n.71+5G>T)
| gnomAD v4 |
9 | g.137459027C>G | CA2692848409 | NSMF | c.71+5G>C (n.71+5G>C)
| gnomAD v4 |
9 | g.137459027C>T | CA2692848410 | NSMF | c.71+5G>A (n.71+5G>A)
| gnomAD v4 |
9 | g.137459028T>C | CA2692848411 | NSMF | c.71+4A>G (n.71+4A>G)
| gnomAD v4 |
9 | g.137459028T>G | CA201765167 | NSMF | c.71+4A>C (n.71+4A>C)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459028T= | CA1884498511 | NSMF | c.71+4A= (n.71+4A=)
| |
9 | g.137459029C>A | CA2692848412 | NSMF | c.71+3G>T (n.71+3G>T)
| gnomAD v4 |
9 | g.137459029C>T | CA2692848413 | NSMF | c.71+3G>A (n.71+3G>A)
| gnomAD v4 |
9 | g.137459030A>C | CA375772430 | NSMF | c.71+2T>G (n.71+2T>G)
| |
9 | g.137459030A>G | CA375772432 | NSMF | c.71+2T>C (n.71+2T>C)
| gnomAD v4 |
9 | g.137459030A>T | CA375772434 | NSMF | c.71+2T>A (n.71+2T>A)
| gnomAD v4 |
9 | g.137459031C>A | CA375772436 | NSMF | c.71+1G>T (n.71+1G>T)
| gnomAD v4 |
9 | g.137459031C= | CA1884498512 | NSMF | c.71+1G= (n.71+1G=)
| |
9 | g.137459031C>G | CA375772438 | NSMF | c.71+1G>C (n.71+1G>C)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459031C>T | CA375772441 | NSMF | c.71+1G>A (n.71+1G>A)
| gnomAD v4 |
9 | g.137459032C>A | CA375772442 | NSMF | c.71G>T (p.Arg24Leu)
| gnomAD v4 |
9 | g.137459032C= | CA1884498513 | NSMF | c.71G= (p.Arg24=)
| |
9 | g.137459032C>G | CA375772443 | NSMF | c.71G>C (p.Arg24Pro)
| gnomAD v4 |
9 | g.137459032C>T | CA5370628 | NSMF | c.71G>A (p.Arg24Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459033G>A | CA375772445 | NSMF | c.70C>T (p.Arg24Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459033G>C | CA375772447 | NSMF | c.70C>G (p.Arg24Gly)
| |
9 | g.137459033G= | CA1884498514 | NSMF | c.70C= (p.Arg24=)
| |
9 | g.137459033G>T | CA467869713 | NSMF | c.70C>A (p.Arg24=)
| gnomAD v4 |
9 | g.137459034C>A | CA467869714 | NSMF | c.69G>T (p.Val23=)
| gnomAD v4 |
9 | g.137459034C>G | CA467869716 | NSMF | c.69G>C (p.Val23=)
| |
9 | g.137459034C>T | CA467869715 | NSMF | c.69G>A (p.Val23=)
| gnomAD v4 |
9 | g.137459035A>C | CA375772449 | NSMF | c.68T>G (p.Val23Gly)
| |
9 | g.137459035A>G | CA375772450 | NSMF | c.68T>C (p.Val23Ala)
| gnomAD v4 |
9 | g.137459035A>T | CA375772452 | NSMF | c.68T>A (p.Val23Glu)
| gnomAD v4 |
9 | g.137459036C>A | CA375772453 | NSMF | c.67G>T (p.Val23Leu)
| gnomAD v4 |
9 | g.137459036C= | CA1884498515 | NSMF | c.67G= (p.Val23=)
| |
9 | g.137459036C>G | CA375772454 | NSMF | c.67G>C (p.Val23Leu)
| dbSNP |
9 | g.137459036C>T | CA5370629 | NSMF | c.67G>A (p.Val23Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459037T>A | CA375772455 | NSMF | c.66A>T (p.Lys22Asn)
| |
9 | g.137459037T>C | CA467869717 | NSMF | c.66A>G (p.Lys22=)
| gnomAD v4 |
9 | g.137459037T>G | CA375772457 | NSMF | c.66A>C (p.Lys22Asn)
| |
9 | g.137459039del | CA2692848414 | NSMF | c.66del (p.Val23CysfsTer?)
| gnomAD v4 |
9 | g.137459038T>A | CA375772458 | NSMF | c.65A>T (p.Lys22Ile)
| gnomAD v4 |
9 | g.137459038T>C | CA375772460 | NSMF | c.65A>G (p.Lys22Arg)
| dbSNP gnomAD v4 |
9 | g.137459038T>G | CA375772461 | NSMF | c.65A>C (p.Lys22Thr)
| |
9 | g.137459038T= | CA1884498516 | NSMF | c.65A= (p.Lys22=)
| |
9 | g.137459039T>A | CA375772467 | NSMF | c.64A>T (p.Lys22Ter)
| |
9 | g.137459039T>C | CA375772465 | NSMF | c.64A>G (p.Lys22Glu)
| gnomAD v4 |
9 | g.137459039T>G | CA375772463 | NSMF | c.64A>C (p.Lys22Gln)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459039T= | CA1884498517 | NSMF | c.64A= (p.Lys22=)
| |
9 | g.137459040G>A | CA467869720 | NSMF | c.63C>T (p.Ala21=)
| gnomAD v4 |
9 | g.137459040G>C | CA467869721 | NSMF | c.63C>G (p.Ala21=)
| gnomAD v4 |
9 | g.137459040G>T | CA467869722 | NSMF | c.63C>A (p.Ala21=)
| gnomAD v4 |
9 | g.137459041G>A | CA375772473 | NSMF | c.62C>T (p.Ala21Val)
| gnomAD v4 |
9 | g.137459041G>C | CA375772475 | NSMF | c.62C>G (p.Ala21Gly)
| gnomAD v4 |
9 | g.137459041G>T | CA375772474 | NSMF | c.62C>A (p.Ala21Asp)
| gnomAD v4 |
9 | g.137459042C>A | CA375772476 | NSMF | c.61G>T (p.Ala21Ser)
| gnomAD v4 |
9 | g.137459042C>G | CA375772477 | NSMF | c.61G>C (p.Ala21Pro)
| gnomAD v4 |
9 | g.137459042C>T | CA375772479 | NSMF | c.61G>A (p.Ala21Thr)
| gnomAD v4 |
9 | g.137459043del | CA2692848415 | NSMF | c.61del (p.Ala21ProfsTer?)
| gnomAD v4 |
9 | g.137459043C>A | CA467869725 | NSMF | c.60G>T (p.Ala20=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459043C= | CA1884498518 | NSMF | c.60G= (p.Ala20=)
| |
9 | g.137459043C>G | CA467869723 | NSMF | c.60G>C (p.Ala20=)
| |
9 | g.137459043C>T | CA467869724 | NSMF | c.60G>A (p.Ala20=)
| gnomAD v4 |
9 | g.137459044G>A | CA375772481 | NSMF | c.59C>T (p.Ala20Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459044G>C | CA375772483 | NSMF | c.59C>G (p.Ala20Gly)
| gnomAD v4 |
9 | g.137459044G= | CA1884498519 | NSMF | c.59C= (p.Ala20=)
| |
9 | g.137459044G>T | CA375772485 | NSMF | c.59C>A (p.Ala20Glu)
| gnomAD v4 |
9 | g.137459045C>A | CA375772487 | NSMF | c.58G>T (p.Ala20Ser)
| gnomAD v4 |
9 | g.137459045C>G | CA375772489 | NSMF | c.58G>C (p.Ala20Pro)
| |
9 | g.137459045C>T | CA375772491 | NSMF | c.58G>A (p.Ala20Thr)
| gnomAD v4 |
9 | g.137459046del | CA2692848416 | NSMF | c.58del (p.Ala20ArgfsTer?)
| gnomAD v4 |
9 | g.137459046C>A | CA467869726 | NSMF | c.57G>T (p.Val19=)
| gnomAD v4 |
9 | g.137459046C>G | CA467869727 | NSMF | c.57G>C (p.Val19=)
| |
9 | g.137459046C>T | CA467869728 | NSMF | c.57G>A (p.Val19=)
| gnomAD v4 |
9 | g.137459047A>C | CA375772493 | NSMF | c.56T>G (p.Val19Gly)
| |
9 | g.137459047A>G | CA375772495 | NSMF | c.56T>C (p.Val19Ala)
| gnomAD v4 |
9 | g.137459047A>T | CA375772497 | NSMF | c.56T>A (p.Val19Glu)
| gnomAD v4 |
9 | g.137459048C>A | CA375772499 | NSMF | c.55G>T (p.Val19Leu)
| gnomAD v4 |
9 | g.137459048C>G | CA375772503 | NSMF | c.55G>C (p.Val19Leu)
| gnomAD v4 |
9 | g.137459048C>T | CA375772501 | NSMF | c.55G>A (p.Val19Met)
| gnomAD v4 |
9 | g.137459049C>A | CA467869731 | NSMF | c.54G>T (p.Ser18=)
| gnomAD v4 |
9 | g.137459049C>G | CA467869729 | NSMF | c.54G>C (p.Ser18=)
| gnomAD v4 |
9 | g.137459049C>T | CA467869730 | NSMF | c.54G>A (p.Ser18=)
| gnomAD v4 |
9 | g.137459050del | CA2786307464 | NSMF | c.53del (p.Ser18TrpfsTer?)
| |
9 | g.137459050G>A | CA375772505 | NSMF | c.53C>T (p.Ser18Leu)
| gnomAD v4 |
9 | g.137459050G>C | CA375772506 | NSMF | c.53C>G (p.Ser18Trp)
| gnomAD v4 |
9 | g.137459050G= | CA1884498520 | NSMF | c.53C= (p.Ser18=)
| |
9 | g.137459050G>T | CA375772508 | NSMF | c.53C>A (p.Ser18Ter)
| ClinVar dbSNP gnomAD v4 |
9 | g.137459051A>C | CA375772510 | NSMF | c.52T>G (p.Ser18Ala)
| |
9 | g.137459051A>G | CA375772511 | NSMF | c.52T>C (p.Ser18Pro)
| gnomAD v4 |
9 | g.137459051A>T | CA375772513 | NSMF | c.52T>A (p.Ser18Thr)
| gnomAD v4 |
9 | g.137459052G>A | CA467869732 | NSMF | c.51C>T (p.Ser17=)
| gnomAD v4 |
9 | g.137459052G>C | CA467869733 | NSMF | c.51C>G (p.Ser17=)
| |
9 | g.137459052G>T | CA467869734 | NSMF | c.51C>A (p.Ser17=)
| gnomAD v4 |
9 | g.137459053G>A | CA375772515 | NSMF | c.50C>T (p.Ser17Phe)
| gnomAD v4 |
9 | g.137459053G>C | CA375772517 | NSMF | c.50C>G (p.Ser17Cys)
| |
9 | g.137459053G>T | CA375772519 | NSMF | c.50C>A (p.Ser17Tyr)
| gnomAD v4 |
9 | g.137459054A>C | CA375772523 | NSMF | c.49T>G (p.Ser17Ala)
| gnomAD v4 |
9 | g.137459054A>G | CA375772525 | NSMF | c.49T>C (p.Ser17Pro)
| gnomAD v4 |
9 | g.137459054A>T | CA375772521 | NSMF | c.49T>A (p.Ser17Thr)
| |
9 | g.137459055C>A | CA375772526 | NSMF | c.48G>T (p.Met16Ile)
| gnomAD v4 |
9 | g.137459055C>G | CA375772527 | NSMF | c.48G>C (p.Met16Ile)
| |
9 | g.137459055C>T | CA375772529 | NSMF | c.48G>A (p.Met16Ile)
| gnomAD v4 |
9 | g.137459056A>C | CA375772532 | NSMF | c.47T>G (p.Met16Arg)
| |
9 | g.137459056A>G | CA375772533 | NSMF | c.47T>C (p.Met16Thr)
| gnomAD v4 |
9 | g.137459056A>T | CA375772534 | NSMF | c.47T>A (p.Met16Lys)
| gnomAD v4 |
9 | g.137459057T>A | CA375772536 | NSMF | c.46A>T (p.Met16Leu)
| gnomAD v4 |
9 | g.137459057T>C | CA201765171 | NSMF | c.46A>G (p.Met16Val)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459057T>G | CA375772539 | NSMF | c.46A>C (p.Met16Leu)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459057T= | CA1884498521 | NSMF | c.46A= (p.Met16=)
| |
9 | g.137459058G>A | CA467869736 | NSMF | c.45C>T (p.Ala15=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459058G>C | CA467869737 | NSMF | c.45C>G (p.Ala15=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459058G= | CA1884498522 | NSMF | c.45C= (p.Ala15=)
| |
9 | g.137459058G>T | CA467869735 | NSMF | c.45C>A (p.Ala15=)
| gnomAD v4 |
9 | g.137459059del | CA2692848417 | NSMF | c.45del (p.Met16CysfsTer?)
| gnomAD v4 |
9 | g.137459059G>A | CA375772540 | NSMF | c.44C>T (p.Ala15Val)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459059G>C | CA375772541 | NSMF | c.44C>G (p.Ala15Gly)
| gnomAD v4 |
9 | g.137459059G= | CA1884498523 | NSMF | c.44C= (p.Ala15=)
| |
9 | g.137459059G>T | CA375772542 | NSMF | c.44C>A (p.Ala15Asp)
| gnomAD v4 |
9 | g.137459060C>A | CA375772545 | NSMF | c.43G>T (p.Ala15Ser)
| gnomAD v4 |
9 | g.137459060C= | CA1884498524 | NSMF | c.43G= (p.Ala15=)
| |
9 | g.137459060C>G | CA375772547 | NSMF | c.43G>C (p.Ala15Pro)
| dbSNP gnomAD v4 |
9 | g.137459060C>T | CA375772544 | NSMF | c.43G>A (p.Ala15Thr)
| gnomAD v4 |
9 | g.137459061C>A | CA375772549 | NSMF | c.42G>T (p.Glu14Asp)
| gnomAD v4 |
9 | g.137459061C= | CA1884498525 | NSMF | c.42G= (p.Glu14=)
| |
9 | g.137459061C>G | CA375772551 | NSMF | c.42G>C (p.Glu14Asp)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459061C>T | CA467869738 | NSMF | c.42G>A (p.Glu14=)
| gnomAD v4 |
9 | g.137459062T>A | CA375772553 | NSMF | c.41A>T (p.Glu14Val)
| |
9 | g.137459062T>C | CA375772555 | NSMF | c.41A>G (p.Glu14Gly)
| gnomAD v4 |
9 | g.137459062T>G | CA375772557 | NSMF | c.41A>C (p.Glu14Ala)
| |
9 | g.137459063C>A | CA375772563 | NSMF | c.40G>T (p.Glu14Ter)
| gnomAD v4 |
9 | g.137459063C>G | CA375772559 | NSMF | c.40G>C (p.Glu14Gln)
| gnomAD v4 |
9 | g.137459063C>T | CA375772561 | NSMF | c.40G>A (p.Glu14Lys)
| gnomAD v4 |
9 | g.137459064G>A | CA201765177 | NSMF | c.39C>T (p.Ser13=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459064G>C | CA375772566 | NSMF | c.39C>G (p.Ser13Arg)
| gnomAD v4 |
9 | g.137459064G= | CA1884498526 | NSMF | c.39C= (p.Ser13=)
| |
9 | g.137459064G>T | CA375772568 | NSMF | c.39C>A (p.Ser13Arg)
| gnomAD v4 |
9 | g.137459065C>A | CA375772570 | NSMF | c.38G>T (p.Ser13Ile)
| gnomAD v4 |
9 | g.137459065C>G | CA375772572 | NSMF | c.38G>C (p.Ser13Thr)
| |
9 | g.137459065C>T | CA375772574 | NSMF | c.38G>A (p.Ser13Asn)
| gnomAD v4 |
9 | g.137459066T>A | CA375772579 | NSMF | c.37A>T (p.Ser13Cys)
| |
9 | g.137459066T>C | CA375772578 | NSMF | c.37A>G (p.Ser13Gly)
| gnomAD v4 |
9 | g.137459066T>G | CA375772577 | NSMF | c.37A>C (p.Ser13Arg)
| |
9 | g.137459067C>A | CA375772582 | NSMF | c.36G>T (p.Arg12Ser)
| gnomAD v4 |
9 | g.137459067C= | CA1884498527 | NSMF | c.36G= (p.Arg12=)
| |
9 | g.137459067C>G | CA375772584 | NSMF | c.36G>C (p.Arg12Ser)
| |
9 | g.137459067C>T | CA467869739 | NSMF | c.36G>A (p.Arg12=)
| dbSNP gnomAD v4 |
9 | g.137459068del | CA2692848418 | NSMF | c.36del (p.Ser13AlafsTer?)
| gnomAD v4 |
9 | g.137459068C>A | CA375772585 | NSMF | c.35G>T (p.Arg12Met)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459068C= | CA1884498528 | NSMF | c.35G= (p.Arg12=)
| |
9 | g.137459068C>G | CA375772587 | NSMF | c.35G>C (p.Arg12Thr)
| gnomAD v4 |
9 | g.137459068C>T | CA375772586 | NSMF | c.35G>A (p.Arg12Lys)
| gnomAD v4 |
9 | g.137459069T>A | CA375772589 | NSMF | c.34A>T (p.Arg12Trp)
| gnomAD v4 |
9 | g.137459069T>C | CA375772591 | NSMF | c.34A>G (p.Arg12Gly)
| gnomAD v4 |
9 | g.137459069T>G | CA467869740 | NSMF | c.34A>C (p.Arg12=)
| |
9 | g.137459069T= | CA1884498529 | NSMF | c.34A= (p.Arg12=)
| |
9 | g.137459070del | CA2692848419 | NSMF | c.33del (p.Arg12GlyfsTer?)
| gnomAD v4 |
9 | g.137459070C>A | CA467869743 | NSMF | c.33G>T (p.Leu11=)
| gnomAD v4 |
9 | g.137459070C>G | CA467869741 | NSMF | c.33G>C (p.Leu11=)
| gnomAD v4 |
9 | g.137459070C>T | CA467869742 | NSMF | c.33G>A (p.Leu11=)
| gnomAD v4 |
9 | g.137459071_137459073dup | CA2692848420 | NSMF | c.31_33dup (p.Leu11_Arg12insLeu)
| gnomAD v4 |
9 | g.137459071_137459093dup | CA1884498530 | NSMF | c.11_33dup (p.Arg12ProfsTer8)
| dbSNP gnomAD v4 |
9 | g.137459071A>C | CA375772592 | NSMF | c.32T>G (p.Leu11Arg)
| |
9 | g.137459071A>G | CA375772593 | NSMF | c.32T>C (p.Leu11Pro)
| gnomAD v4 |
9 | g.137459071A>T | CA375772595 | NSMF | c.32T>A (p.Leu11Gln)
| |
9 | g.137459072G>A | CA467869744 | NSMF | c.31C>T (p.Leu11=)
| dbSNP gnomAD v4 |
9 | g.137459072G>C | CA375772598 | NSMF | c.31C>G (p.Leu11Val)
| gnomAD v4 |
9 | g.137459072G>T | CA375772599 | NSMF | c.31C>A (p.Leu11Met)
| ClinVar gnomAD v4 |
9 | g.137459073C>A | CA467869745 | NSMF | c.30G>T (p.Ala10=)
| gnomAD v4 |
9 | g.137459073C>G | CA467869746 | NSMF | c.30G>C (p.Ala10=)
| gnomAD v4 |
9 | g.137459073C>T | CA467869747 | NSMF | c.30G>A (p.Ala10=)
| gnomAD v4 |
9 | g.137459074G>A | CA375772601 | NSMF | c.29C>T (p.Ala10Val)
| dbSNP gnomAD v4 |
9 | g.137459074G>C | CA375772602 | NSMF | c.29C>G (p.Ala10Gly)
| gnomAD v4 |
9 | g.137459074G= | CA1884498531 | NSMF | c.29C= (p.Ala10=)
| |
9 | g.137459074G>T | CA375772604 | NSMF | c.29C>A (p.Ala10Glu)
| gnomAD v4 |
9 | g.137459075C>A | CA375772608 | NSMF | c.28G>T (p.Ala10Ser)
| gnomAD v4 |
9 | g.137459075C>G | CA375772606 | NSMF | c.28G>C (p.Ala10Pro)
| |
9 | g.137459075C>T | CA375772605 | NSMF | c.28G>A (p.Ala10Thr)
| gnomAD v4 |
9 | g.137459077del | CA2692848421 | NSMF | c.28del (p.Ala10ArgfsTer2)
| gnomAD v4 |
9 | g.137459076_137459077del | CA2692848422 | NSMF | c.27_28del (p.Arg9SerfsTer30)
| gnomAD v4 |
9 | g.137459077_137459080del | CA2692848423 | NSMF | c.25_28del (p.Ala10Ter)
| gnomAD v4 |
9 | g.137459076C>A | CA375772610 | NSMF | c.27G>T (p.Arg9Ser)
| gnomAD v4 |
9 | g.137459076C>G | CA375772612 | NSMF | c.27G>C (p.Arg9Ser)
| gnomAD v4 |
9 | g.137459076C>T | CA467869748 | NSMF | c.27G>A (p.Arg9=)
| gnomAD v4 |
9 | g.137459077C>A | CA375772613 | NSMF | c.26G>T (p.Arg9Met)
| gnomAD v4 |
9 | g.137459077C>G | CA375772615 | NSMF | c.26G>C (p.Arg9Thr)
| gnomAD v4 |
9 | g.137459077C>T | CA375772617 | NSMF | c.26G>A (p.Arg9Lys)
| gnomAD v4 |
9 | g.137459078del | CA2692848424 | NSMF | c.25del (p.Arg9GlyfsTer3)
| gnomAD v4 |
9 | g.137459078T>A | CA375772619 | NSMF | c.25A>T (p.Arg9Trp)
| gnomAD v4 |
9 | g.137459078T>C | CA375772621 | NSMF | c.25A>G (p.Arg9Gly)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137459078T>G | CA467869749 | NSMF | c.25A>C (p.Arg9=)
| gnomAD v4 |
9 | g.137459078T= | CA1884498532 | NSMF | c.25A= (p.Arg9=)
| |
9 | g.137459079C>A | CA375772623 | NSMF | c.24G>T (p.Arg8Ser)
| gnomAD v4 |
9 | g.137459079C= | CA1884498533 | NSMF | c.24G= (p.Arg8=)
| |
9 | g.137459079C>G | CA375772624 | NSMF | c.24G>C (p.Arg8Ser)
| gnomAD v4 |
9 | g.137459079C>T | CA467869750 | NSMF | c.24G>A (p.Arg8=)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137459080C>A | CA375772628 | NSMF | c.23G>T (p.Arg8Met)
| gnomAD v4 |
9 | g.137459080C>G | CA375772629 | NSMF | c.23G>C (p.Arg8Thr)
| gnomAD v4 |
9 | g.137459080C>T | CA375772630 | NSMF | c.23G>A (p.Arg8Lys)
| gnomAD v4 |
9 | g.137459081del | CA2692848425 | NSMF | c.22del (p.Arg8GlyfsTer4)
| gnomAD v4 |
9 | g.137459081T>A | CA375772637 | NSMF | c.22A>T (p.Arg8Trp)
| gnomAD v4 |
9 | g.137459081T>C | CA375772634 | NSMF | c.22A>G (p.Arg8Gly)
| gnomAD v4 |
9 | g.137459081T>G | CA201765180 | NSMF | c.22A>C (p.Arg8=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459081T= | CA1884498534 | NSMF | c.22A= (p.Arg8=)
| |
9 | g.137459081_137459086del | CA2786307465 | NSMF | c.17_22del (p.Ser6_Arg8delinsTrp)
| |
9 | g.137459082C>A | CA375772640 | NSMF | c.21G>T (p.Arg7Ser)
| gnomAD v4 |
9 | g.137459082C= | CA1884498535 | NSMF | c.21G= (p.Arg7=)
| |
9 | g.137459082C>G | CA375772641 | NSMF | c.21G>C (p.Arg7Ser)
| |
9 | g.137459082C>T | CA467869751 | NSMF | c.21G>A (p.Arg7=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459083del | CA2692848426 | NSMF | c.21del (p.Arg8GlyfsTer4)
| gnomAD v4 |
9 | g.137459083C>A | CA375772644 | NSMF | c.20G>T (p.Arg7Met)
| gnomAD v4 |
9 | g.137459083C>G | CA375772646 | NSMF | c.20G>C (p.Arg7Thr)
| gnomAD v4 |
9 | g.137459083C>T | CA375772647 | NSMF | c.20G>A (p.Arg7Lys)
| dbSNP gnomAD v4 |
9 | g.137459084del | CA2692848428 | NSMF | c.19del (p.Arg7GlyfsTer5)
| gnomAD v4 |
9 | g.137459084T>A | CA375772651 | NSMF | c.19A>T (p.Arg7Trp)
| gnomAD v4 |
9 | g.137459084T>C | CA375772653 | NSMF | c.19A>G (p.Arg7Gly)
| gnomAD v4 |
9 | g.137459084T>G | CA467869752 | NSMF | c.19A>C (p.Arg7=)
| dbSNP gnomAD v4 |
9 | g.137459084T= | CA1884498536 | NSMF | c.19A= (p.Arg7=)
| |
9 | g.137459085_137459105del | CA2692848427 | NSMF | c.-2_19del
| gnomAD v4 |
9 | g.137459085G>A | CA467869755 | NSMF | c.18C>T (p.Ser6=)
| gnomAD v4 |
9 | g.137459085G>C | CA467869753 | NSMF | c.18C>G (p.Ser6=)
| gnomAD v4 |
9 | g.137459085G>T | CA467869754 | NSMF | c.18C>A (p.Ser6=)
| gnomAD v4 |
9 | g.137459086del | CA2692848429 | NSMF | c.18del (p.Arg7GlyfsTer5)
| gnomAD v4 |
9 | g.137459087_137459089del | CA2692848430 | NSMF | c.16_18del (p.Ser6del)
| gnomAD v4 |
9 | g.137459086_137459089del | CA2692848431 | NSMF | c.15_18del (p.Ser6GlyfsTer5)
| gnomAD v4 |
9 | g.137459085_137459106delinsGGAGGCGGCGGCGCCCATGGTC | CA1884498537 | NSMF | c.-4_18delinsGACCATGGGCGCCGCCGCCTCC
| |
9 | g.137459086G>A | CA375772656 | NSMF | c.17C>T (p.Ser6Phe)
| gnomAD v4 |
9 | g.137459086G>C | CA375772657 | NSMF | c.17C>G (p.Ser6Cys)
| gnomAD v4 |
9 | g.137459086G>T | CA375772659 | NSMF | c.17C>A (p.Ser6Tyr)
| gnomAD v4 |
9 | g.137459099_137459119dup | CA2692848432 | NSMF | c.-4_17dup (p.Ser6_Arg7insThrMetGlyAlaAlaAlaSer)
| gnomAD v4 |
9 | g.137459099_137459119del | CA1884498538 | NSMF | c.-4_17del
| dbSNP gnomAD v4 |
9 | g.137459087A>C | CA375772662 | NSMF | c.16T>G (p.Ser6Ala)
| |
9 | g.137459087A>G | CA375772665 | NSMF | c.16T>C (p.Ser6Pro)
| gnomAD v4 |
9 | g.137459087A>T | CA375772666 | NSMF | c.16T>A (p.Ser6Thr)
| gnomAD v4 |
9 | g.137459088G>A | CA467869756 | NSMF | c.15C>T (p.Ala5=)
| gnomAD v4 |
9 | g.137459088G>C | CA467869757 | NSMF | c.15C>G (p.Ala5=)
| |
9 | g.137459088G>T | CA467869758 | NSMF | c.15C>A (p.Ala5=)
| gnomAD v4 |
9 | g.137459095_137459097dup | CA2692848433 | NSMF | c.13_15dup (p.Ala5_Ser6insAla)
| gnomAD v4 |
9 | g.137459089G>A | CA375772675 | NSMF | c.14C>T (p.Ala5Val)
| gnomAD v4 |
9 | g.137459089G>C | CA375772669 | NSMF | c.14C>G (p.Ala5Gly)
| gnomAD v4 |
9 | g.137459089G= | CA1884498539 | NSMF | c.14C= (p.Ala5=)
| |
9 | g.137459089G>T | CA375772672 | NSMF | c.14C>A (p.Ala5Asp)
| dbSNP gnomAD v4 |
9 | g.137459090_137459107del | CA2786307466 | NSMF | c.-4_14del
| |
9 | g.137459089_137459090insA | CA2692848434 | NSMF | c.13_14insT (p.Ala5ValfsTer?)
| gnomAD v4 |
9 | g.137459090del | CA2786307467 | NSMF | c.13del (p.Ala5ProfsTer7)
| |
9 | g.137459090C>A | CA375772677 | NSMF | c.13G>T (p.Ala5Ser)
| gnomAD v4 |
9 | g.137459090C>G | CA375772680 | NSMF | c.13G>C (p.Ala5Pro)
| gnomAD v4 |
9 | g.137459090C>T | CA375772682 | NSMF | c.13G>A (p.Ala5Thr)
| dbSNP gnomAD v4 |
9 | g.137459091G>A | CA467869759 | NSMF | c.12C>T (p.Ala4=)
| dbSNP gnomAD v4 |
9 | g.137459091G>C | CA467869760 | NSMF | c.12C>G (p.Ala4=)
| |
9 | g.137459091G= | CA1884498540 | NSMF | c.12C= (p.Ala4=)
| |
9 | g.137459091G>T | CA467869761 | NSMF | c.12C>A (p.Ala4=)
| gnomAD v4 |
9 | g.137459091_137459107del | CA2692848435 | NSMF | c.-5_12del
| gnomAD v4 |
9 | g.137459092G>A | CA375772686 | NSMF | c.11C>T (p.Ala4Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459092G>C | CA375772689 | NSMF | c.11C>G (p.Ala4Gly)
| gnomAD v4 |
9 | g.137459092G= | CA1884498541 | NSMF | c.11C= (p.Ala4=)
| |
9 | g.137459092G>T | CA375772691 | NSMF | c.11C>A (p.Ala4Asp)
| gnomAD v4 |
9 | g.137459093_137459094del | CA2692848436 | NSMF | c.10_11del (p.Ala4ArgfsTer?)
| gnomAD v4 |
9 | g.137459093C>A | CA375772694 | NSMF | c.10G>T (p.Ala4Ser)
| gnomAD v4 |
9 | g.137459093C>G | CA375772697 | NSMF | c.10G>C (p.Ala4Pro)
| gnomAD v4 |
9 | g.137459093C>T | CA375772702 | NSMF | c.10G>A (p.Ala4Thr)
| gnomAD v4 |
9 | g.137459094G>A | CA467869762 | NSMF | c.9C>T (p.Ala3=)
| gnomAD v4 |
9 | g.137459094G>C | CA467869763 | NSMF | c.9C>G (p.Ala3=)
| gnomAD v4 |
9 | g.137459094G>T | CA467869764 | NSMF | c.9C>A (p.Ala3=)
| gnomAD v4 |
9 | g.137459095G>A | CA375772706 | NSMF | c.8C>T (p.Ala3Val)
| gnomAD v4 |
9 | g.137459095G>C | CA375772708 | NSMF | c.8C>G (p.Ala3Gly)
| gnomAD v4 |
9 | g.137459095G>T | CA375772710 | NSMF | c.8C>A (p.Ala3Asp)
| gnomAD v4 |
9 | g.137459096C>A | CA375772717 | NSMF | c.7G>T (p.Ala3Ser)
| gnomAD v4 |
9 | g.137459096C= | CA1884498542 | NSMF | c.7G= (p.Ala3=)
| |
9 | g.137459096C>G | CA375772721 | NSMF | c.7G>C (p.Ala3Pro)
| gnomAD v4 |
9 | g.137459096C>T | CA375772715 | NSMF | c.7G>A (p.Ala3Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459097G>A | CA201765182 | NSMF | c.6C>T (p.Gly2=)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459097G>C | CA467869765 | NSMF | c.6C>G (p.Gly2=)
| gnomAD v4 |
9 | g.137459097G= | CA1884498543 | NSMF | c.6C= (p.Gly2=)
| |
9 | g.137459097G>T | CA467869766 | NSMF | c.6C>A (p.Gly2=)
| gnomAD v4 |
9 | g.137459098C>A | CA375772724 | NSMF | c.5G>T (p.Gly2Val)
| gnomAD v4 |
9 | g.137459098C>G | CA375772722 | NSMF | c.5G>C (p.Gly2Ala)
| |
9 | g.137459098C>T | CA375772723 | NSMF | c.5G>A (p.Gly2Asp)
| gnomAD v4 |
9 | g.137459100del | CA2692848437 | NSMF | c.5del (p.Gly2AlafsTer10)
| gnomAD v4 |
9 | g.137459099_137459100del | CA2692848438 | NSMF | c.4_5del (p.Gly2ArgfsTer?)
| gnomAD v4 |
9 | g.137459099C>A | CA375772725 | NSMF | c.4G>T (p.Gly2Cys)
| gnomAD v4 |
9 | g.137459099C>G | CA375772726 | NSMF | c.4G>C (p.Gly2Arg)
| gnomAD v4 |
9 | g.137459099C>T | CA375772729 | NSMF | c.4G>A (p.Gly2Ser)
| gnomAD v4 |
9 | g.137459100C>A | CA375772732 | NSMF | c.3G>T (p.Met1Ile)
| gnomAD v4 |
9 | g.137459100C>G | CA375772734 | NSMF | c.3G>C (p.Met1Ile)
| gnomAD v4 |
9 | g.137459100C>T | CA375772736 | NSMF | c.3G>A (p.Met1Ile)
| gnomAD v4 |
9 | g.137459100_137459120del | CA2692848439 | NSMF | c.-18_3del
| gnomAD v4 |
9 | g.137459101A>C | CA375772740 | NSMF | c.2T>G (p.Met1Arg)
| |
9 | g.137459101A>G | CA375772743 | NSMF | c.2T>C (p.Met1Thr)
| gnomAD v4 |
9 | g.137459101A>T | CA375772746 | NSMF | c.2T>A (p.Met1Lys)
| gnomAD v4 |
9 | g.137459102T>A | CA375772752 | NSMF | c.1A>T (p.Met1Leu)
| |
9 | g.137459102T>C | CA375772753 | NSMF | c.1A>G (p.Met1Val)
| gnomAD v4 |
9 | g.137459102T>G | CA375772757 | NSMF | c.1A>C (p.Met1Leu)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459102T= | CA1884498544 | NSMF | c.1A= (p.Met1=)
| |
9 | g.137459103G>A | CA2692848443 | NSMF | c.-1C>T (n.-1C>T)
| gnomAD v4 |
9 | g.137459103G>C | CA2692848442 | NSMF | c.-1C>G (n.-1C>G)
| gnomAD v4 |
9 | g.137459103G>T | CA2692848441 | NSMF | c.-1C>A (n.-1C>A)
| gnomAD v4 |
9 | g.137459104del | CA2692848440 | NSMF | c.-1del (n.-1del)
| gnomAD v4 |
9 | g.137459104G>A | CA2692848444 | NSMF | c.-2C>T (n.-2C>T)
| gnomAD v4 |
9 | g.137459104G>T | CA2692848445 | NSMF | c.-2C>A (n.-2C>A)
| gnomAD v4 |
9 | g.137459105T>A | CA2692848446 | NSMF | c.-3A>T (n.-3A>T)
| gnomAD v4 |
9 | g.137459105T>C | CA2692848447 | NSMF | c.-3A>G (n.-3A>G)
| gnomAD v4 |
9 | g.137459106C>A | CA2692848448 | NSMF | c.-4G>T (n.-4G>T)
| gnomAD v4 |
9 | g.137459106C>G | CA2692848449 | NSMF | c.-4G>C (n.-4G>C)
| gnomAD v4 |
9 | g.137459106C>T | CA2692848450 | NSMF | c.-4G>A (n.-4G>A)
| gnomAD v4 |
9 | g.137459107G>A | CA2692848452 | NSMF | c.-5C>T (n.-5C>T)
| gnomAD v4 |
9 | g.137459107G>C | CA861192436 | NSMF | c.-5C>G (n.-5C>G)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459107G= | CA1884498545 | NSMF | c.-5C= (n.-5C=)
| |
9 | g.137459107G>T | CA2692848453 | NSMF | c.-5C>A (n.-5C>A)
| gnomAD v4 |
9 | g.137459108_137459110dup | CA2692848451 | NSMF | c.-7_-5dup (n.-7_-5dup)
| gnomAD v4 |
9 | g.137459108A>C | CA2786307468 | NSMF | c.-6T>G (n.-6T>G)
| |
9 | g.137459108A>G | CA2692848454 | NSMF | c.-6T>C (n.-6T>C)
| gnomAD v4 |
9 | g.137459108A>T | CA2692848455 | NSMF | c.-6T>A (n.-6T>A)
| gnomAD v4 |
9 | g.137459109G>A | CA1130111205 | NSMF | c.-7C>T (n.-7C>T)
| dbSNP gnomAD v3 gnomAD v4 |
9 | g.137459109G= | CA1884498546 | NSMF | c.-7C= (n.-7C=)
| |
9 | g.137459109G>T | CA2692848456 | NSMF | c.-7C>A (n.-7C>A)
| gnomAD v4 |
9 | g.137459110G>A | CA2692848457 | NSMF | c.-8C>T (n.-8C>T)
| gnomAD v4 |
9 | g.137459110G>C | CA2786307469 | NSMF | c.-8C>G (n.-8C>G)
| |
9 | g.137459110G>T | CA2692848458 | NSMF | c.-8C>A (n.-8C>A)
| gnomAD v4 |
9 | g.137459111C>A | CA2692848459 | NSMF | c.-9G>T (n.-9G>T)
| gnomAD v4 |
9 | g.137459111C>G | CA2692848460 | NSMF | c.-9G>C (n.-9G>C)
| gnomAD v4 |
9 | g.137459111C>T | CA2692848461 | NSMF | c.-9G>A (n.-9G>A)
| gnomAD v4 |
9 | g.137459112G>A | CA2692848462 | NSMF | c.-10C>T (n.-10C>T)
| gnomAD v4 |
9 | g.137459112G>C | CA2692848463 | NSMF | c.-10C>G (n.-10C>G)
| gnomAD v4 |
9 | g.137459112G>T | CA2692848464 | NSMF | c.-10C>A (n.-10C>A)
| gnomAD v4 |
9 | g.137459113G>A | CA2692848465 | NSMF | c.-11C>T (n.-11C>T)
| gnomAD v4 |
9 | g.137459113G>C | CA2786307470 | NSMF | c.-11C>G (n.-11C>G)
| |
9 | g.137459113G>T | CA2692848466 | NSMF | c.-11C>A (n.-11C>A)
| gnomAD v4 |
9 | g.137459114del | CA2692848467 | NSMF | c.-12del (n.-12del)
| gnomAD v4 |
9 | g.137459114C>A | CA2579533564 | NSMF | c.-12G>T (n.-12G>T)
| gnomAD v4 |
9 | g.137459114C= | CA1884498547 | NSMF | c.-12G= (n.-12G=)
| |
9 | g.137459114C>G | CA2692848468 | NSMF | c.-12G>C (n.-12G>C)
| gnomAD v4 |
9 | g.137459114C>T | CA591232634 | NSMF | c.-12G>A (n.-12G>A)
| dbSNP gnomAD v2 gnomAD v4 |
9 | g.137459115G>A | CA201765187 | NSMF | c.-13C>T (n.-13C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459115G>C | CA2692848469 | NSMF | c.-13C>G (n.-13C>G)
| gnomAD v4 |
9 | g.137459115G= | CA1884498548 | NSMF | c.-13C= (n.-13C=)
| |
9 | g.137459116G>A | CA2692848470 | NSMF | c.-14C>T (n.-14C>T)
| gnomAD v4 |
9 | g.137459116G>T | CA2692848471 | NSMF | c.-14C>A (n.-14C>A)
| gnomAD v4 |
9 | g.137459117C>A | CA2692848472 | NSMF | c.-15G>T (n.-15G>T)
| gnomAD v4 |
9 | g.137459117C= | CA1884498549 | NSMF | c.-15G= (n.-15G=)
| |
9 | g.137459117C>G | CA2692848473 | NSMF | c.-15G>C (n.-15G>C)
| gnomAD v4 |
9 | g.137459117C>T | CA1884498550 | NSMF | c.-15G>A (n.-15G>A)
| dbSNP gnomAD v4 |
9 | g.137459118G>A | CA2692848474 | NSMF | c.-16C>T (n.-16C>T)
| gnomAD v4 |
9 | g.137459118G>C | CA2692848475 | NSMF | c.-16C>G (n.-16C>G)
| gnomAD v4 |
9 | g.137459118G>T | CA2692848476 | NSMF | c.-16C>A (n.-16C>A)
| gnomAD v4 |
9 | g.137459119C>A | CA2692848477 | NSMF | c.-17G>T (n.-17G>T)
| gnomAD v4 |
9 | g.137459119C>T | CA2692848478 | NSMF | c.-17G>A (n.-17G>A)
| gnomAD v4 |
9 | g.137459120A>G | CA2692848479 | NSMF | c.-18T>C (n.-18T>C)
| gnomAD v4 |
9 | g.137459121T>A | CA2692848480 | NSMF | c.-19A>T (n.-19A>T)
| gnomAD v4 |
9 | g.137459121T>C | CA1884498552 | NSMF | c.-19A>G (n.-19A>G)
| dbSNP gnomAD v4 |
9 | g.137459121T>G | CA2692848481 | NSMF | c.-19A>C (n.-19A>C)
| gnomAD v4 |
9 | g.137459121T= | CA1884498553 | NSMF | c.-19A= (n.-19A=)
| |
9 | g.137459121_137459122delinsTC | CA1884498551 | NSMF | c.-20_-19delinsGA (n.-20_-19delinsGA)
| |
9 | g.137459122C>A | CA2579533565 | NSMF | c.-20G>T (n.-20G>T)
| gnomAD v4 |
9 | g.137459122C>T | CA2692848483 | NSMF | c.-20G>A (n.-20G>A)
| gnomAD v4 |
9 | g.137459126dup | CA2692848482 | NSMF | c.-20dup (n.-20dup)
| gnomAD v4 |
9 | g.137459126del | CA591232637 | NSMF | c.-20del (n.-20del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137459123C>A | CA2579533566 | NSMF | c.-21G>T (n.-21G>T)
| gnomAD v4 |
9 | g.137459123C>G | CA2692848484 | NSMF | c.-21G>C (n.-21G>C)
| gnomAD v4 |
9 | g.137459123C>T | CA2692848485 | NSMF | c.-21G>A (n.-21G>A)
| gnomAD v4 |