17 | g.8012532T>A | CA397952371 | GUCY2D | c.2039T>A (p.Leu680His)
| |
17 | g.8012532T>C | CA397952373 | GUCY2D | c.2039T>C (p.Leu680Pro)
| |
17 | g.8012532T>G | CA397952375 | GUCY2D | c.2039T>G (p.Leu680Arg)
| |
17 | g.8012533C>A | CA497953322 | GUCY2D | c.2040C>A (p.Leu680=)
| |
17 | g.8012533C= | CA2246114462 | GUCY2D | c.2040C= (p.Leu680=)
| |
17 | g.8012533C>G | CA497953324 | GUCY2D | c.2040C>G (p.Leu680=)
| |
17 | g.8012533C>T | CA497953326 | GUCY2D | c.2040C>T (p.Leu680=)
| dbSNP |
17 | g.8012534A= | CA2246114464 | GUCY2D | c.2041A= (p.Lys681=)
| |
17 | g.8012534A>C | CA397952379 | GUCY2D | c.2041A>C (p.Lys681Gln)
| |
17 | g.8012534A>G | CA8365973 | GUCY2D | c.2041A>G (p.Lys681Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012534A>T | CA397952377 | GUCY2D | c.2041A>T (p.Lys681Ter)
| |
17 | g.8012535A>C | CA397952383 | GUCY2D | c.2042A>C (p.Lys681Thr)
| |
17 | g.8012535A>G | CA397952385 | GUCY2D | c.2042A>G (p.Lys681Arg)
| |
17 | g.8012535A>T | CA397952386 | GUCY2D | c.2042A>T (p.Lys681Met)
| |
17 | g.8012536G>A | CA497953331 | GUCY2D | c.2043G>A (p.Lys681=)
| |
17 | g.8012536G>C | CA397952388 | GUCY2D | c.2043G>C (p.Lys681Asn)
| |
17 | g.8012536G>T | CA397952390 | GUCY2D | c.2043G>T (p.Lys681Asn)
| |
17 | g.8012537A>C | CA397952395 | GUCY2D | c.2044A>C (p.Ile682Leu)
| |
17 | g.8012537A>G | CA397952392 | GUCY2D | c.2044A>G (p.Ile682Val)
| |
17 | g.8012537A>T | CA397952393 | GUCY2D | c.2044A>T (p.Ile682Phe)
| |
17 | g.8012538T>A | CA397952398 | GUCY2D | c.2045T>A (p.Ile682Asn)
| |
17 | g.8012538T>C | CA397952399 | GUCY2D | c.2045T>C (p.Ile682Thr)
| |
17 | g.8012538T>G | CA397952401 | GUCY2D | c.2045T>G (p.Ile682Ser)
| |
17 | g.8012539C>A | CA497953338 | GUCY2D | c.2046C>A (p.Ile682=)
| |
17 | g.8012539C= | CA2246114470 | GUCY2D | c.2046C= (p.Ile682=)
| |
17 | g.8012539C>G | CA397952403 | GUCY2D | c.2046C>G (p.Ile682Met)
| |
17 | g.8012539C>T | CA8365974 | GUCY2D | c.2046C>T (p.Ile682=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012540A>C | CA397952412 | GUCY2D | c.2047A>C (p.Thr683Pro)
| |
17 | g.8012540A>G | CA397952410 | GUCY2D | c.2047A>G (p.Thr683Ala)
| |
17 | g.8012540A>T | CA397952407 | GUCY2D | c.2047A>T (p.Thr683Ser)
| |
17 | g.8012541C>A | CA397952414 | GUCY2D | c.2048C>A (p.Thr683Asn)
| |
17 | g.8012541C>G | CA397952417 | GUCY2D | c.2048C>G (p.Thr683Ser)
| |
17 | g.8012541C>T | CA397952415 | GUCY2D | c.2048C>T (p.Thr683Ile)
| |
17 | g.8012542T>A | CA497953342 | GUCY2D | c.2049T>A (p.Thr683=)
| |
17 | g.8012542T>C | CA497953344 | GUCY2D | c.2049T>C (p.Thr683=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012542T>G | CA497953346 | GUCY2D | c.2049T>G (p.Thr683=)
| |
17 | g.8012542T= | CA2246114472 | GUCY2D | c.2049T= (p.Thr683=)
| |
17 | g.8012543G>A | CA397952419 | GUCY2D | c.2050G>A (p.Asp684Asn)
| |
17 | g.8012543G>C | CA397952421 | GUCY2D | c.2050G>C (p.Asp684His)
| |
17 | g.8012543G>T | CA397952423 | GUCY2D | c.2050G>T (p.Asp684Tyr)
| gnomAD v4 |
17 | g.8012544A>C | CA397952425 | GUCY2D | c.2051A>C (p.Asp684Ala)
| |
17 | g.8012544A>G | CA397952427 | GUCY2D | c.2051A>G (p.Asp684Gly)
| |
17 | g.8012544A>T | CA397952429 | GUCY2D | c.2051A>T (p.Asp684Val)
| |
17 | g.8012545C>A | CA287531258 | GUCY2D | c.2052C>A (p.Asp684Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012545C= | CA2246114475 | GUCY2D | c.2052C= (p.Asp684=)
| |
17 | g.8012545C>G | CA397952432 | GUCY2D | c.2052C>G (p.Asp684Glu)
| |
17 | g.8012545C>T | CA287531259 | GUCY2D | c.2052C>T (p.Asp684=)
| dbSNP gnomAD v4 |
17 | g.8012546C>A | CA397952434 | GUCY2D | c.2053C>A (p.His685Asn)
| gnomAD v4 |
17 | g.8012546C= | CA2246114479 | GUCY2D | c.2053C= (p.His685=)
| |
17 | g.8012546C>G | CA397952436 | GUCY2D | c.2053C>G (p.His685Asp)
| |
17 | g.8012546C>T | CA397952438 | GUCY2D | c.2053C>T (p.His685Tyr)
| dbSNP |
17 | g.8012547A>C | CA397952442 | GUCY2D | c.2054A>C (p.His685Pro)
| |
17 | g.8012547A>G | CA397952441 | GUCY2D | c.2054A>G (p.His685Arg)
| |
17 | g.8012547A>T | CA397952440 | GUCY2D | c.2054A>T (p.His685Leu)
| |
17 | g.8012548C>A | CA397952443 | GUCY2D | c.2055C>A (p.His685Gln)
| |
17 | g.8012548C= | CA2246114483 | GUCY2D | c.2055C= (p.His685=)
| |
17 | g.8012548C>G | CA397952445 | GUCY2D | c.2055C>G (p.His685Gln)
| |
17 | g.8012548C>T | CA8365975 | GUCY2D | c.2055C>T (p.His685=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012549G>A | CA8365976 | GUCY2D | c.2056G>A (p.Gly686Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012549G>C | CA397952449 | GUCY2D | c.2056G>C (p.Gly686Arg)
| |
17 | g.8012549G= | CA2246114486 | GUCY2D | c.2056G= (p.Gly686=)
| |
17 | g.8012549G>T | CA397952451 | GUCY2D | c.2056G>T (p.Gly686Cys)
| |
17 | g.8012550G>A | CA397952453 | GUCY2D | c.2057G>A (p.Gly686Asp)
| gnomAD v4 COSMIC |
17 | g.8012550G>C | CA397952455 | GUCY2D | c.2057G>C (p.Gly686Ala)
| |
17 | g.8012550G>T | CA397952457 | GUCY2D | c.2057G>T (p.Gly686Val)
| |
17 | g.8012551C>A | CA497953364 | GUCY2D | c.2058C>A (p.Gly686=)
| |
17 | g.8012551C>G | CA497953366 | GUCY2D | c.2058C>G (p.Gly686=)
| |
17 | g.8012551C>T | CA497953367 | GUCY2D | c.2058C>T (p.Gly686=)
| |
17 | g.8012552C>A | CA397952459 | GUCY2D | c.2059C>A (p.His687Asn)
| |
17 | g.8012552C= | CA2246114491 | GUCY2D | c.2059C= (p.His687=)
| |
17 | g.8012552C>G | CA397952460 | GUCY2D | c.2059C>G (p.His687Asp)
| |
17 | g.8012552C>T | CA8365977 | GUCY2D | c.2059C>T (p.His687Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012553A>C | CA397952465 | GUCY2D | c.2060A>C (p.His687Pro)
| |
17 | g.8012553A>G | CA397952464 | GUCY2D | c.2060A>G (p.His687Arg)
| |
17 | g.8012553A>T | CA397952462 | GUCY2D | c.2060A>T (p.His687Leu)
| |
17 | g.8012554C>A | CA397952467 | GUCY2D | c.2061C>A (p.His687Gln)
| |
17 | g.8012554C= | CA2246114494 | GUCY2D | c.2061C= (p.His687=)
| |
17 | g.8012554C>G | CA397952468 | GUCY2D | c.2061C>G (p.His687Gln)
| |
17 | g.8012554C>T | CA8365978 | GUCY2D | c.2061C>T (p.His687=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012555G>A | CA8365979 | GUCY2D | c.2062G>A (p.Gly688Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012555G>C | CA397952474 | GUCY2D | c.2062G>C (p.Gly688Arg)
| |
17 | g.8012555G= | CA2246114497 | GUCY2D | c.2062G= (p.Gly688=)
| |
17 | g.8012555G>T | CA397952476 | GUCY2D | c.2062G>T (p.Gly688Trp)
| |
17 | g.8012556G>A | CA397952479 | GUCY2D | c.2063G>A (p.Gly688Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012556G>C | CA397952480 | GUCY2D | c.2063G>C (p.Gly688Ala)
| |
17 | g.8012556G= | CA2246114498 | GUCY2D | c.2063G= (p.Gly688=)
| |
17 | g.8012556G>T | CA397952482 | GUCY2D | c.2063G>T (p.Gly688Val)
| |
17 | g.8012557G>A | CA497953386 | GUCY2D | c.2064G>A (p.Gly688=)
| dbSNP gnomAD v4 |
17 | g.8012557G>C | CA497953387 | GUCY2D | c.2064G>C (p.Gly688=)
| |
17 | g.8012557G= | CA2246114501 | GUCY2D | c.2064G= (p.Gly688=)
| |
17 | g.8012557G>T | CA497953389 | GUCY2D | c.2064G>T (p.Gly688=)
| |
17 | g.8012558A>C | CA497953390 | GUCY2D | c.2065A>C (p.Arg689=)
| |
17 | g.8012558A>G | CA397952484 | GUCY2D | c.2065A>G (p.Arg689Gly)
| |
17 | g.8012558A>T | CA397952486 | GUCY2D | c.2065A>T (p.Arg689Ter)
| |
17 | g.8012559G>A | CA397952489 | GUCY2D | c.2066G>A (p.Arg689Lys)
| |
17 | g.8012559G>C | CA397952491 | GUCY2D | c.2066G>C (p.Arg689Thr)
| |
17 | g.8012559G>T | CA397952493 | GUCY2D | c.2066G>T (p.Arg689Ile)
| |
17 | g.8012560A= | CA2246114504 | GUCY2D | c.2067A= (p.Arg689=)
| |
17 | g.8012560A>C | CA397952495 | GUCY2D | c.2067A>C (p.Arg689Ser)
| |
17 | g.8012560A>G | CA287531283 | GUCY2D | c.2067A>G (p.Arg689=)
| ClinVar dbSNP |
17 | g.8012560A>T | CA8365980 | GUCY2D | c.2067A>T (p.Arg689Ser)
| dbSNP ExAC gnomAD v2 |
17 | g.8012561C>A | CA397952499 | GUCY2D | c.2068C>A (p.Leu690Met)
| |
17 | g.8012561C>G | CA397952501 | GUCY2D | c.2068C>G (p.Leu690Val)
| |
17 | g.8012561C>T | CA497953397 | GUCY2D | c.2068C>T (p.Leu690=)
| |
17 | g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | CA2808393056 | GUCY2D | c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT (p.Leu690ArgfsTer25)
| |
17 | g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | CA2808393058 | GUCY2D | c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG (p.Leu690ArgfsTer25)
| |
17 | g.8012562T>A | CA397952503 | GUCY2D | c.2069T>A (p.Leu690Gln)
| |
17 | g.8012562T>C | CA397952505 | GUCY2D | c.2069T>C (p.Leu690Pro)
| gnomAD v4 |
17 | g.8012562T>G | CA397952506 | GUCY2D | c.2069T>G (p.Leu690Arg)
| |
17 | g.8012563G>A | CA497953403 | GUCY2D | c.2070G>A (p.Leu690=)
| |
17 | g.8012563G>C | CA497953402 | GUCY2D | c.2070G>C (p.Leu690=)
| |
17 | g.8012563G>T | CA497953400 | GUCY2D | c.2070G>T (p.Leu690=)
| |
17 | g.8012564C>A | CA397952508 | GUCY2D | c.2071C>A (p.Leu691Met)
| |
17 | g.8012564C>G | CA397952510 | GUCY2D | c.2071C>G (p.Leu691Val)
| |
17 | g.8012564C>T | CA497953404 | GUCY2D | c.2071C>T (p.Leu691=)
| |
17 | g.8012565T>A | CA397952511 | GUCY2D | c.2072T>A (p.Leu691Gln)
| |
17 | g.8012565T>C | CA397952512 | GUCY2D | c.2072T>C (p.Leu691Pro)
| |
17 | g.8012565T>G | CA397952515 | GUCY2D | c.2072T>G (p.Leu691Arg)
| |
17 | g.8012566G>A | CA8365981 | GUCY2D | c.2073G>A (p.Leu691=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012566G>C | CA497953407 | GUCY2D | c.2073G>C (p.Leu691=)
| |
17 | g.8012566G= | CA2246114508 | GUCY2D | c.2073G= (p.Leu691=)
| |
17 | g.8012566G>T | CA497953408 | GUCY2D | c.2073G>T (p.Leu691=)
| |
17 | g.8012566_8012574delinsGGAAGCACA | CA2246114509 | GUCY2D | c.2073_2081delinsGGAAGCACA (p.Leu691=)
| |
17 | g.8012567G>A | CA397952523 | GUCY2D | c.2074G>A (p.Glu692Lys)
| COSMIC |
17 | g.8012567G>C | CA397952519 | GUCY2D | c.2074G>C (p.Glu692Gln)
| |
17 | g.8012567G>T | CA397952521 | GUCY2D | c.2074G>T (p.Glu692Ter)
| |
17 | g.8012571_8012578del | CA226065 | GUCY2D | c.2078_2085del (p.Ala693GlyfsTer20)
| ClinVar dbSNP |
17 | g.8012568A>C | CA397952525 | GUCY2D | c.2075A>C (p.Glu692Ala)
| |
17 | g.8012568A>G | CA397952526 | GUCY2D | c.2075A>G (p.Glu692Gly)
| |
17 | g.8012568A>T | CA397952528 | GUCY2D | c.2075A>T (p.Glu692Val)
| |
17 | g.8012569A= | CA2246114516 | GUCY2D | c.2076A= (p.Glu692=)
| |
17 | g.8012569A>C | CA397952530 | GUCY2D | c.2076A>C (p.Glu692Asp)
| |
17 | g.8012569A>G | CA8365982 | GUCY2D | c.2076A>G (p.Glu692=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012569A>T | CA397952532 | GUCY2D | c.2076A>T (p.Glu692Asp)
| |
17 | g.8012570G>A | CA397952535 | GUCY2D | c.2077G>A (p.Ala693Thr)
| |
17 | g.8012570G>C | CA397952537 | GUCY2D | c.2077G>C (p.Ala693Pro)
| |
17 | g.8012570G>T | CA397952538 | GUCY2D | c.2077G>T (p.Ala693Ser)
| gnomAD v4 |
17 | g.8012571C>A | CA8365983 | GUCY2D | c.2078C>A (p.Ala693Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012571C= | CA2246114519 | GUCY2D | c.2078C= (p.Ala693=)
| |
17 | g.8012571C>G | CA397952541 | GUCY2D | c.2078C>G (p.Ala693Gly)
| |
17 | g.8012571C>T | CA397952542 | GUCY2D | c.2078C>T (p.Ala693Val)
| |
17 | g.8012572A>C | CA497953418 | GUCY2D | c.2079A>C (p.Ala693=)
| |
17 | g.8012572A>G | CA497953421 | GUCY2D | c.2079A>G (p.Ala693=)
| |
17 | g.8012572A>T | CA497953422 | GUCY2D | c.2079A>T (p.Ala693=)
| |
17 | g.8012573C>A | CA226066 | GUCY2D | c.2080C>A (p.Gln694Lys)
| ClinVar dbSNP |
17 | g.8012573C= | CA2246114530 | GUCY2D | c.2080C= (p.Gln694=)
| |
17 | g.8012573C>G | CA8365984 | GUCY2D | c.2080C>G (p.Gln694Glu)
| dbSNP ExAC |
17 | g.8012573C>T | CA8365985 | GUCY2D | c.2080C>T (p.Gln694Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012574A>C | CA397952548 | GUCY2D | c.2081A>C (p.Gln694Pro)
| |
17 | g.8012574A>G | CA397952551 | GUCY2D | c.2081A>G (p.Gln694Arg)
| |
17 | g.8012574A>T | CA397952549 | GUCY2D | c.2081A>T (p.Gln694Leu)
| |
17 | g.8012576_8012578del | CA2576160314 | GUCY2D | c.2083_2085del (p.Lys695del)
| |
17 | g.8012575G>A | CA287531337 | GUCY2D | c.2082G>A (p.Gln694=)
| ClinVar dbSNP |
17 | g.8012575G>C | CA397952553 | GUCY2D | c.2082G>C (p.Gln694His)
| |
17 | g.8012575G= | CA2246114534 | GUCY2D | c.2082G= (p.Gln694=)
| |
17 | g.8012575G>T | CA397952554 | GUCY2D | c.2082G>T (p.Gln694His)
| COSMIC |
17 | g.8012576A>C | CA397952556 | GUCY2D | c.2083A>C (p.Lys695Gln)
| |
17 | g.8012576A>G | CA397952558 | GUCY2D | c.2083A>G (p.Lys695Glu)
| |
17 | g.8012576A>T | CA397952560 | GUCY2D | c.2083A>T (p.Lys695Ter)
| |
17 | g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | CA8365986 | GUCY2D | c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA (p.Lys695ThrfsTer12)
| ExAC |
17 | g.8012577A= | CA2246114538 | GUCY2D | c.2084A= (p.Lys695=)
| |
17 | g.8012577A>C | CA397952562 | GUCY2D | c.2084A>C (p.Lys695Thr)
| |
17 | g.8012577A>G | CA397952564 | GUCY2D | c.2084A>G (p.Lys695Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012577A>T | CA397952566 | GUCY2D | c.2084A>T (p.Lys695Met)
| |
17 | g.8012578G>A | CA497953434 | GUCY2D | c.2085G>A (p.Lys695=)
| gnomAD v4 |
17 | g.8012578G>C | CA397952568 | GUCY2D | c.2085G>C (p.Lys695Asn)
| |
17 | g.8012578G>T | CA397952570 | GUCY2D | c.2085G>T (p.Lys695Asn)
| |
17 | g.8012579G>A | CA397952576 | GUCY2D | c.2086G>A (p.Val696Met)
| |
17 | g.8012579G>C | CA397952574 | GUCY2D | c.2086G>C (p.Val696Leu)
| |
17 | g.8012579G>T | CA397952572 | GUCY2D | c.2086G>T (p.Val696Leu)
| dbSNP gnomAD v4 |
17 | g.8012580T>A | CA397952581 | GUCY2D | c.2087T>A (p.Val696Glu)
| |
17 | g.8012580T>C | CA397952577 | GUCY2D | c.2087T>C (p.Val696Ala)
| |
17 | g.8012580T>G | CA397952579 | GUCY2D | c.2087T>G (p.Val696Gly)
| dbSNP |
17 | g.8012580T= | CA2246114539 | GUCY2D | c.2087T= (p.Val696=)
| |
17 | g.8012581G>A | CA497953443 | GUCY2D | c.2088G>A (p.Val696=)
| |
17 | g.8012581G>C | CA497953445 | GUCY2D | c.2088G>C (p.Val696=)
| |
17 | g.8012581G>T | CA497953446 | GUCY2D | c.2088G>T (p.Val696=)
| |
17 | g.8012582C>A | CA397952583 | GUCY2D | c.2089C>A (p.Leu697Ile)
| |
17 | g.8012582C>G | CA397952585 | GUCY2D | c.2089C>G (p.Leu697Val)
| |
17 | g.8012582C>T | CA497953450 | GUCY2D | c.2089C>T (p.Leu697=)
| |
17 | g.8012583T>A | CA397952587 | GUCY2D | c.2090T>A (p.Leu697Gln)
| |
17 | g.8012583T>C | CA397952589 | GUCY2D | c.2090T>C (p.Leu697Pro)
| |
17 | g.8012583T>G | CA397952590 | GUCY2D | c.2090T>G (p.Leu697Arg)
| |
17 | g.8012584A>C | CA497953454 | GUCY2D | c.2091A>C (p.Leu697=)
| |
17 | g.8012584A>G | CA497953455 | GUCY2D | c.2091A>G (p.Leu697=)
| |
17 | g.8012584A>T | CA497953456 | GUCY2D | c.2091A>T (p.Leu697=)
| |
17 | g.8012585C>A | CA397952592 | GUCY2D | c.2092C>A (p.Pro698Thr)
| |
17 | g.8012585C= | CA2246114543 | GUCY2D | c.2092C= (p.Pro698=)
| |
17 | g.8012585C>G | CA397952595 | GUCY2D | c.2092C>G (p.Pro698Ala)
| |
17 | g.8012585C>T | CA8365987 | GUCY2D | c.2092C>T (p.Pro698Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012586C>A | CA397952597 | GUCY2D | c.2093C>A (p.Pro698Gln)
| |
17 | g.8012586C= | CA2246114547 | GUCY2D | c.2093C= (p.Pro698=)
| |
17 | g.8012586C>G | CA8365988 | GUCY2D | c.2093C>G (p.Pro698Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012586C>T | CA8365989 | GUCY2D | c.2093C>T (p.Pro698Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012587G>A | CA8365990 | GUCY2D | c.2094G>A (p.Pro698=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012587G>C | CA497953458 | GUCY2D | c.2094G>C (p.Pro698=)
| gnomAD v4 |
17 | g.8012587G= | CA2246114549 | GUCY2D | c.2094G= (p.Pro698=)
| |
17 | g.8012587G>T | CA497953459 | GUCY2D | c.2094G>T (p.Pro698=)
| |
17 | g.8012588G>A | CA397952602 | GUCY2D | c.2095G>A (p.Glu699Lys)
| |
17 | g.8012588G>C | CA397952606 | GUCY2D | c.2095G>C (p.Glu699Gln)
| |
17 | g.8012588G>T | CA397952604 | GUCY2D | c.2095G>T (p.Glu699Ter)
| |
17 | g.8012589A>C | CA397952608 | GUCY2D | c.2096A>C (p.Glu699Ala)
| |
17 | g.8012589A>G | CA397952609 | GUCY2D | c.2096A>G (p.Glu699Gly)
| gnomAD v4 |
17 | g.8012589A>T | CA397952611 | GUCY2D | c.2096A>T (p.Glu699Val)
| |
17 | g.8012590G>A | CA287531371 | GUCY2D | c.2097G>A (p.Glu699=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012590G>C | CA397952612 | GUCY2D | c.2097G>C (p.Glu699Asp)
| COSMIC |
17 | g.8012590G= | CA2246114552 | GUCY2D | c.2097G= (p.Glu699=)
| |
17 | g.8012590G>T | CA397952613 | GUCY2D | c.2097G>T (p.Glu699Asp)
| |
17 | g.8012591C>A | CA397952616 | GUCY2D | c.2098C>A (p.Pro700Thr)
| |
17 | g.8012591C= | CA2246114556 | GUCY2D | c.2098C= (p.Pro700=)
| |
17 | g.8012591C>G | CA397952617 | GUCY2D | c.2098C>G (p.Pro700Ala)
| dbSNP gnomAD v4 |
17 | g.8012591C>T | CA397952619 | GUCY2D | c.2098C>T (p.Pro700Ser)
| |
17 | g.8012592C>A | CA397952621 | GUCY2D | c.2099C>A (p.Pro700His)
| |
17 | g.8012592C= | CA2246114558 | GUCY2D | c.2099C= (p.Pro700=)
| |
17 | g.8012592C>G | CA287531372 | GUCY2D | c.2099C>G (p.Pro700Arg)
| dbSNP |
17 | g.8012592C>T | CA397952624 | GUCY2D | c.2099C>T (p.Pro700Leu)
| |
17 | g.8012593T>A | CA497953469 | GUCY2D | c.2100T>A (p.Pro700=)
| |
17 | g.8012593T>C | CA497953471 | GUCY2D | c.2100T>C (p.Pro700=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012593T>G | CA497953470 | GUCY2D | c.2100T>G (p.Pro700=)
| |
17 | g.8012593T= | CA2246114561 | GUCY2D | c.2100T= (p.Pro700=)
| |
17 | g.8012594C>A | CA397952627 | GUCY2D | c.2101C>A (p.Pro701Thr)
| |
17 | g.8012594C= | CA2246114565 | GUCY2D | c.2101C= (p.Pro701=)
| |
17 | g.8012594C>G | CA397952629 | GUCY2D | c.2101C>G (p.Pro701Ala)
| |
17 | g.8012594C>T | CA200657 | GUCY2D | c.2101C>T (p.Pro701Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012595C>A | CA397952631 | GUCY2D | c.2102C>A (p.Pro701His)
| |
17 | g.8012595C= | CA2246114572 | GUCY2D | c.2102C= (p.Pro701=)
| |
17 | g.8012595C>G | CA397952635 | GUCY2D | c.2102C>G (p.Pro701Arg)
| |
17 | g.8012595C>T | CA397952633 | GUCY2D | c.2102C>T (p.Pro701Leu)
| dbSNP gnomAD v4 |
17 | g.8012596C>A | CA497953472 | GUCY2D | c.2103C>A (p.Pro701=)
| |
17 | g.8012596C>G | CA497953474 | GUCY2D | c.2103C>G (p.Pro701=)
| |
17 | g.8012596C>T | CA497953475 | GUCY2D | c.2103C>T (p.Pro701=)
| ClinVar |
17 | g.8012597A= | CA2246114574 | GUCY2D | c.2104A= (p.Arg702=)
| |
17 | g.8012597A>C | CA497953477 | GUCY2D | c.2104A>C (p.Arg702=)
| |
17 | g.8012597A>G | CA287531373 | GUCY2D | c.2104A>G (p.Arg702Gly)
| dbSNP |
17 | g.8012597A>T | CA397952636 | GUCY2D | c.2104A>T (p.Arg702Ter)
| |
17 | g.8012598G>A | CA397952638 | GUCY2D | c.2105G>A (p.Arg702Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012598G>C | CA397952640 | GUCY2D | c.2105G>C (p.Arg702Thr)
| |
17 | g.8012598G= | CA2246114580 | GUCY2D | c.2105G= (p.Arg702=)
| |
17 | g.8012598G>T | CA397952642 | GUCY2D | c.2105G>T (p.Arg702Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012599A>C | CA397952644 | GUCY2D | c.2106A>C (p.Arg702Ser)
| |
17 | g.8012599A>G | CA497953478 | GUCY2D | c.2106A>G (p.Arg702=)
| |
17 | g.8012599A>T | CA397952646 | GUCY2D | c.2106A>T (p.Arg702Ser)
| |
17 | g.8012600G>A | CA397952648 | GUCY2D | c.2107G>A (p.Ala703Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.8012600G>C | CA397952650 | GUCY2D | c.2107G>C (p.Ala703Pro)
| |
17 | g.8012600G= | CA2246114582 | GUCY2D | c.2107G= (p.Ala703=)
| |
17 | g.8012600G>T | CA397952652 | GUCY2D | c.2107G>T (p.Ala703Ser)
| |
17 | g.8012601C>A | CA397952657 | GUCY2D | c.2108C>A (p.Ala703Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012601C= | CA2246114588 | GUCY2D | c.2108C= (p.Ala703=)
| |
17 | g.8012601C>G | CA397952655 | GUCY2D | c.2108C>G (p.Ala703Gly)
| |
17 | g.8012601C>T | CA8365991 | GUCY2D | c.2108C>T (p.Ala703Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012602G>A | CA226068 | GUCY2D | c.2109G>A (p.Ala703=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012602G>C | CA497953484 | GUCY2D | c.2109G>C (p.Ala703=)
| dbSNP |
17 | g.8012602G= | CA2246114593 | GUCY2D | c.2109G= (p.Ala703=)
| |
17 | g.8012602G>T | CA497953485 | GUCY2D | c.2109G>T (p.Ala703=)
| dbSNP gnomAD v4 |
17 | g.8012603G>A | CA8365992 | GUCY2D | c.2110G>A (p.Glu704Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012603G>C | CA397952661 | GUCY2D | c.2110G>C (p.Glu704Gln)
| |
17 | g.8012603G= | CA2246114598 | GUCY2D | c.2110G= (p.Glu704=)
| |
17 | g.8012603G>T | CA397952663 | GUCY2D | c.2110G>T (p.Glu704Ter)
| |
17 | g.8012604A>C | CA397952665 | GUCY2D | c.2111A>C (p.Glu704Ala)
| |
17 | g.8012604A>G | CA397952667 | GUCY2D | c.2111A>G (p.Glu704Gly)
| |
17 | g.8012604A>T | CA397952668 | GUCY2D | c.2111A>T (p.Glu704Val)
| |
17 | g.8012605G>A | CA497953486 | GUCY2D | c.2112G>A (p.Glu704=)
| ClinVar |
17 | g.8012605G>C | CA397952669 | GUCY2D | c.2112G>C (p.Glu704Asp)
| |
17 | g.8012605G>T | CA397952671 | GUCY2D | c.2112G>T (p.Glu704Asp)
| |
17 | g.8012606G>A | CA397952673 | GUCY2D | c.2113G>A (p.Asp705Asn)
| gnomAD v4 |
17 | g.8012606G>C | CA397952675 | GUCY2D | c.2113G>C (p.Asp705His)
| dbSNP gnomAD v4 |
17 | g.8012606G= | CA2246114604 | GUCY2D | c.2113G= (p.Asp705=)
| |
17 | g.8012606G>T | CA397952677 | GUCY2D | c.2113G>T (p.Asp705Tyr)
| ClinVar dbSNP |
17 | g.8012607G>A | CA397952680 | GUCY2D | c.2113+1G>A (n.2113+1G>A)
| ClinVar gnomAD v4 |
17 | g.8012607G>C | CA397952682 | GUCY2D | c.2113+1G>C (n.2113+1G>C)
| |
17 | g.8012607G>T | CA397952679 | GUCY2D | c.2113+1G>T (n.2113+1G>T)
| |
17 | g.8012608del | CA2635949893 | GUCY2D | c.2113+2del (n.2113+2del)
| gnomAD v4 |
17 | g.8012608T>A | CA397952684 | GUCY2D | c.2113+2T>A (n.2113+2T>A)
| |
17 | g.8012608T>C | CA397952686 | GUCY2D | c.2113+2T>C (n.2113+2T>C)
| gnomAD v4 |
17 | g.8012608T>G | CA397952687 | GUCY2D | c.2113+2T>G (n.2113+2T>G)
| dbSNP |
17 | g.8012608T= | CA2246114605 | GUCY2D | c.2113+2T= (n.2113+2T=)
| |
17 | g.8012608dup | CA2695224519 | GUCY2D | c.2113+2dup (n.2113+2dup)
| |
17 | g.8012609A>G | CA2635949894 | GUCY2D | c.2113+3A>G (n.2113+3A>G)
| gnomAD v4 |
17 | g.8012610A= | CA2246114607 | GUCY2D | c.2113+4A= (n.2113+4A=)
| |
17 | g.8012610A>C | CA624867887 | GUCY2D | c.2113+4A>C (n.2113+4A>C)
| dbSNP gnomAD v2 |
17 | g.8012610A>G | CA2635949895 | GUCY2D | c.2113+4A>G (n.2113+4A>G)
| gnomAD v4 |
17 | g.8012611G>C | CA624867888 | GUCY2D | c.2113+5G>C (n.2113+5G>C)
| dbSNP gnomAD v2 |
17 | g.8012611G= | CA2246114609 | GUCY2D | c.2113+5G= (n.2113+5G=)
| |
17 | g.8012611G>T | CA2635949896 | GUCY2D | c.2113+5G>T (n.2113+5G>T)
| gnomAD v4 |
17 | g.8012612A= | CA2246114617 | GUCY2D | c.2113+6A= (n.2113+6A=)
| |
17 | g.8012612A>C | CA2576160315 | GUCY2D | c.2113+6A>C (n.2113+6A>C)
| |
17 | g.8012612A>G | CA624867889 | GUCY2D | c.2113+6A>G (n.2113+6A>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012612A>T | CA2635949897 | GUCY2D | c.2113+6A>T (n.2113+6A>T)
| gnomAD v4 |
17 | g.8012613G>A | CA2635949898 | GUCY2D | c.2113+7G>A (n.2113+7G>A)
| gnomAD v4 |
17 | g.8012614T>G | CA2246114623 | GUCY2D | c.2113+8T>G (n.2113+8T>G)
| dbSNP |
17 | g.8012614T= | CA2246114622 | GUCY2D | c.2113+8T= (n.2113+8T=)
| |
17 | g.8012615C>A | CA981230659 | GUCY2D | c.2113+9C>A (n.2113+9C>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012615C= | CA2246114628 | GUCY2D | c.2113+9C= (n.2113+9C=)
| |
17 | g.8012615C>G | CA8365994 | GUCY2D | c.2113+9C>G (n.2113+9C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012615C>T | CA8365993 | GUCY2D | c.2113+9C>T (n.2113+9C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012618del | CA2635949904 | GUCY2D | c.2113+12del (n.2113+12del)
| gnomAD v4 |
17 | g.8012616C>A | CA2635949911 | GUCY2D | c.2113+10C>A (n.2113+10C>A)
| gnomAD v4 |
17 | g.8012616C= | CA2246114634 | GUCY2D | c.2113+10C= (n.2113+10C=)
| |
17 | g.8012616C>G | CA2635949910 | GUCY2D | c.2113+10C>G (n.2113+10C>G)
| gnomAD v4 |
17 | g.8012616C>T | CA2246114633 | GUCY2D | c.2113+10C>T (n.2113+10C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.8012617C>A | CA2576160316 | GUCY2D | c.2113+11C>A (n.2113+11C>A)
| |
17 | g.8012617C= | CA2246114636 | GUCY2D | c.2113+11C= (n.2113+11C=)
| |
17 | g.8012617C>T | CA775513588 | GUCY2D | c.2113+11C>T (n.2113+11C>T)
| dbSNP gnomAD v4 |
17 | g.8012618C>A | CA2576160317 | GUCY2D | c.2113+12C>A (n.2113+12C>A)
| gnomAD v4 |
17 | g.8012618C= | CA2246114642 | GUCY2D | c.2113+12C= (n.2113+12C=)
| |
17 | g.8012618C>T | CA2246114645 | GUCY2D | c.2113+12C>T (n.2113+12C>T)
| dbSNP gnomAD v4 |
17 | g.8012619T>C | CA2635949921 | GUCY2D | c.2113+13T>C (n.2113+13T>C)
| ClinVar gnomAD v4 |
17 | g.8012620G>A | CA624867890 | GUCY2D | c.2113+14G>A (n.2113+14G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012620G>C | CA2635949924 | GUCY2D | c.2113+14G>C (n.2113+14G>C)
| gnomAD v4 |
17 | g.8012620G= | CA2246114646 | GUCY2D | c.2113+14G= (n.2113+14G=)
| |
17 | g.8012623C>A | CA2635949926 | GUCY2D | c.2113+17C>A (n.2113+17C>A)
| gnomAD v4 |
17 | g.8012623C= | CA2246114648 | GUCY2D | c.2113+17C= (n.2113+17C=)
| |
17 | g.8012623C>T | CA624867891 | GUCY2D | c.2113+17C>T (n.2113+17C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012624A= | CA2246114651 | GUCY2D | c.2113+18A= (n.2113+18A=)
| |
17 | g.8012624A>T | CA624867892 | GUCY2D | c.2113+18A>T (n.2113+18A>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012624_8012627delinsAGAC | CA2246114652 | GUCY2D | c.2113+18_2113+21delinsAGAC (n.2113+18_2113+21delinsAGAC)
| |
17 | g.8012627_8012629del | CA2246114654 | GUCY2D | c.2113+21_2113+23del (n.2113+21_2113+23del)
| dbSNP |
17 | g.8012627C>A | CA8365995 | GUCY2D | c.2113+21C>A (n.2113+21C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012627C= | CA2246114657 | GUCY2D | c.2113+21C= (n.2113+21C=)
| |
17 | g.8012627C>T | CA8365996 | GUCY2D | c.2113+21C>T (n.2113+21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012628G>A | CA287531397 | GUCY2D | c.2113+22G>A (n.2113+22G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012628G= | CA2246114658 | GUCY2D | c.2113+22G= (n.2113+22G=)
| |
17 | g.8012628G>T | CA2635949933 | GUCY2D | c.2113+22G>T (n.2113+22G>T)
| gnomAD v4 |
17 | g.8012630G>T | CA2635949935 | GUCY2D | c.2113+24G>T (n.2113+24G>T)
| gnomAD v4 |
17 | g.8012631G= | CA2246114662 | GUCY2D | c.2113+25G= (n.2113+25G=)
| |
17 | g.8012631G>T | CA624867893 | GUCY2D | c.2113+25G>T (n.2113+25G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012639_8012718del | CA2808393071 | GUCY2D | c.2113+33_2113+112del (n.2113+33_2113+112del)
| |