17 | g.39665385_39665392dup | CA8532818 | TCAP | c.26_33dup (p.Glu12ArgfsTer20)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665384G>A | CA399302749 | TCAP | c.25G>A (p.Glu9Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665384G>C | CA399302748 | TCAP | c.25G>C (p.Glu9Gln)
| gnomAD v4 |
17 | g.39665384G= | CA2259200502 | TCAP | c.25G= (p.Glu9=)
| |
17 | g.39665384G>T | CA399302747 | TCAP | c.25G>T (p.Glu9Ter)
| ClinVar |
17 | g.39665384_39665390dup | CA278947 | TCAP | c.25_31dup (p.Ser11Ter)
| ClinVar dbSNP |
17 | g.39665388_39665396del | CA2576253829 | TCAP | c.29_37del (p.Val10_Glu12del)
| |
17 | g.39665385A>C | CA399302750 | TCAP | c.26A>C (p.Glu9Ala)
| |
17 | g.39665385A>G | CA399302751 | TCAP | c.26A>G (p.Glu9Gly)
| |
17 | g.39665385A>T | CA399302752 | TCAP | c.26A>T (p.Glu9Val)
| |
17 | g.39665386G>A | CA499670338 | TCAP | c.27G>A (p.Glu9=)
| |
17 | g.39665386G>C | CA399302753 | TCAP | c.27G>C (p.Glu9Asp)
| |
17 | g.39665386G>T | CA399302755 | TCAP | c.27G>T (p.Glu9Asp)
| |
17 | g.39665388_39665393dup | CA2637632149 | TCAP | c.29_34dup (p.Ser11_Glu12insValSer)
| gnomAD v4 |
17 | g.39665387G>A | CA399302758 | TCAP | c.28G>A (p.Val10Met)
| |
17 | g.39665387G>C | CA399302759 | TCAP | c.28G>C (p.Val10Leu)
| |
17 | g.39665387G>T | CA399302761 | TCAP | c.28G>T (p.Val10Leu)
| |
17 | g.39665387_39665401delinsGTGTCGGAGGAGAAC | CA2259200503 | TCAP | c.28_42delinsGTGTCGGAGGAGAAC (p.Val10=)
| |
17 | g.39665388T>A | CA399302763 | TCAP | c.29T>A (p.Val10Glu)
| |
17 | g.39665388T>C | CA399302764 | TCAP | c.29T>C (p.Val10Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665388T>G | CA399302766 | TCAP | c.29T>G (p.Val10Gly)
| dbSNP |
17 | g.39665388T= | CA2259200504 | TCAP | c.29T= (p.Val10=)
| |
17 | g.39665391_39665404del | CA983629131 | TCAP | c.32_45del (p.Ser11Ter)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665389G>A | CA499670339 | TCAP | c.30G>A (p.Val10=)
| gnomAD v4 COSMIC |
17 | g.39665389G>C | CA499670340 | TCAP | c.30G>C (p.Val10=)
| |
17 | g.39665389G>T | CA499670341 | TCAP | c.30G>T (p.Val10=)
| |
17 | g.39665390T>A | CA399302769 | TCAP | c.31T>A (p.Ser11Thr)
| |
17 | g.39665390T>C | CA399302771 | TCAP | c.31T>C (p.Ser11Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665390T>G | CA399302773 | TCAP | c.31T>G (p.Ser11Ala)
| |
17 | g.39665390T= | CA2259200505 | TCAP | c.31T= (p.Ser11=)
| |
17 | g.39665391C>A | CA163427 | TCAP | c.32C>A (p.Ser11Ter)
| ClinVar dbSNP |
17 | g.39665391C= | CA2259200506 | TCAP | c.32C= (p.Ser11=)
| |
17 | g.39665391C>G | CA8532820 | TCAP | c.32C>G (p.Ser11Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665391C>T | CA181033 | TCAP | c.32C>T (p.Ser11Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665391_39665394delinsCGGA | CA2259200507 | TCAP | c.32_35delinsCGGA (p.Ser11=)
| |
17 | g.39665392G>A | CA8532821 | TCAP | c.33G>A (p.Ser11=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665392G>C | CA499670343 | TCAP | c.33G>C (p.Ser11=)
| ClinVar gnomAD v4 |
17 | g.39665392G= | CA2259200508 | TCAP | c.33G= (p.Ser11=)
| |
17 | g.39665392G>T | CA499670342 | TCAP | c.33G>T (p.Ser11=)
| ClinVar dbSNP |
17 | g.39665393dup | CA658798823 | TCAP | c.34dup (p.Glu12GlyfsTer5)
| ClinVar dbSNP |
17 | g.39665393del | CA2573153698 | TCAP | c.34del (p.Glu12ArgfsTer17)
| ClinVar dbSNP |
17 | g.39665396_39665398del | CA134920 | TCAP | c.37_39del (p.Glu13del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39665393_39665407dup | CA2580093655 | TCAP | c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)
| ClinVar |
17 | g.39665393G>A | CA399302780 | TCAP | c.34G>A (p.Glu12Lys)
| |
17 | g.39665393G>C | CA399302783 | TCAP | c.34G>C (p.Glu12Gln)
| ClinVar gnomAD v4 |
17 | g.39665393G>T | CA399302785 | TCAP | c.34G>T (p.Glu12Ter)
| |
17 | g.39665394A= | CA2259200509 | TCAP | c.35A= (p.Glu12=)
| |
17 | g.39665394A>C | CA399302789 | TCAP | c.35A>C (p.Glu12Ala)
| gnomAD v4 |
17 | g.39665394A>G | CA399302787 | TCAP | c.35A>G (p.Glu12Gly)
| dbSNP gnomAD v4 |
17 | g.39665394A>T | CA399302786 | TCAP | c.35A>T (p.Glu12Val)
| |
17 | g.39665395G>A | CA499670344 | TCAP | c.36G>A (p.Glu12=)
| ClinVar dbSNP |
17 | g.39665395G>C | CA399302791 | TCAP | c.36G>C (p.Glu12Asp)
| COSMIC |
17 | g.39665395G>T | CA399302793 | TCAP | c.36G>T (p.Glu12Asp)
| |
17 | g.39665396G>A | CA290433695 | TCAP | c.37G>A (p.Glu13Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665396G>C | CA399302794 | TCAP | c.37G>C (p.Glu13Gln)
| |
17 | g.39665396G= | CA2259200510 | TCAP | c.37G= (p.Glu13=)
| |
17 | g.39665396G>T | CA399302795 | TCAP | c.37G>T (p.Glu13Ter)
| |
17 | g.39665399_39665407dup | CA2637632160 | TCAP | c.40_48dup (p.Glu16_Arg17insAsnCysGlu)
| gnomAD v4 |
17 | g.39665397A>C | CA399302799 | TCAP | c.38A>C (p.Glu13Ala)
| |
17 | g.39665397A>G | CA399302801 | TCAP | c.38A>G (p.Glu13Gly)
| |
17 | g.39665397A>T | CA399302800 | TCAP | c.38A>T (p.Glu13Val)
| |
17 | g.39665398G>A | CA499670345 | TCAP | c.39G>A (p.Glu13=)
| |
17 | g.39665398G>C | CA399302802 | TCAP | c.39G>C (p.Glu13Asp)
| dbSNP |
17 | g.39665398G= | CA2259200511 | TCAP | c.39G= (p.Glu13=)
| |
17 | g.39665398G>T | CA399302803 | TCAP | c.39G>T (p.Glu13Asp)
| |
17 | g.39665399A>C | CA399302805 | TCAP | c.40A>C (p.Asn14His)
| |
17 | g.39665399A>G | CA399302807 | TCAP | c.40A>G (p.Asn14Asp)
| |
17 | g.39665399A>T | CA399302809 | TCAP | c.40A>T (p.Asn14Tyr)
| |
17 | g.39665400A= | CA2259200512 | TCAP | c.41A= (p.Asn14=)
| |
17 | g.39665400A>C | CA399302811 | TCAP | c.41A>C (p.Asn14Thr)
| |
17 | g.39665400A>G | CA399302812 | TCAP | c.41A>G (p.Asn14Ser)
| |
17 | g.39665400A>T | CA399302814 | TCAP | c.41A>T (p.Asn14Ile)
| |
17 | g.39665401C>A | CA399302816 | TCAP | c.42C>A (p.Asn14Lys)
| |
17 | g.39665401C>G | CA399302818 | TCAP | c.42C>G (p.Asn14Lys)
| |
17 | g.39665401C>T | CA499670346 | TCAP | c.42C>T (p.Asn14=)
| gnomAD v4 |
17 | g.39665401_39665403delinsCTG | CA2259200513 | TCAP | c.42_44delinsCTG (p.Asn14=)
| |
17 | g.39665402_39665408dup | CA10606734 | TCAP | c.43_49dup (p.Arg17LeufsTer2)
| ClinVar dbSNP |
17 | g.39665402T>A | CA8532823 | TCAP | c.43T>A (p.Cys15Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665402T>C | CA290433709 | TCAP | c.43T>C (p.Cys15Arg)
| dbSNP gnomAD v4 |
17 | g.39665402T>G | CA399302824 | TCAP | c.43T>G (p.Cys15Gly)
| |
17 | g.39665402T= | CA2259200514 | TCAP | c.43T= (p.Cys15=)
| |
17 | g.39665404_39665405del | CA8532822 | TCAP | c.45_46del (p.Cys15Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665403G>A | CA399302827 | TCAP | c.44G>A (p.Cys15Tyr)
| |
17 | g.39665403G>C | CA399302828 | TCAP | c.44G>C (p.Cys15Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665403G= | CA2259200515 | TCAP | c.44G= (p.Cys15=)
| |
17 | g.39665403G>T | CA399302829 | TCAP | c.44G>T (p.Cys15Phe)
| |
17 | g.39665404T>A | CA399302831 | TCAP | c.45T>A (p.Cys15Ter)
| |
17 | g.39665404T>C | CA499670347 | TCAP | c.45T>C (p.Cys15=)
| gnomAD v4 |
17 | g.39665404T>G | CA399302833 | TCAP | c.45T>G (p.Cys15Trp)
| |
17 | g.39665405G>A | CA399302839 | TCAP | c.46G>A (p.Glu16Lys)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665405G>C | CA399302835 | TCAP | c.46G>C (p.Glu16Gln)
| |
17 | g.39665405G>T | CA399302837 | TCAP | c.46G>T (p.Glu16Ter)
| |
17 | g.39665406A>C | CA399302841 | TCAP | c.47A>C (p.Glu16Ala)
| |
17 | g.39665406A>G | CA399302843 | TCAP | c.47A>G (p.Glu16Gly)
| |
17 | g.39665406A>T | CA399302844 | TCAP | c.47A>T (p.Glu16Val)
| |
17 | g.39665407G>A | CA499670348 | TCAP | c.48G>A (p.Glu16=)
| gnomAD v4 |
17 | g.39665407G>C | CA399302846 | TCAP | c.48G>C (p.Glu16Asp)
| |
17 | g.39665407G>T | CA399302847 | TCAP | c.48G>T (p.Glu16Asp)
| |
17 | g.39665409_39665410dup | CA2740095327 | TCAP | c.50_51dup (p.Arg18AlafsTer12)
| ClinVar |
17 | g.39665408C>A | CA399302851 | TCAP | c.49C>A (p.Arg17Ser)
| |
17 | g.39665408C= | CA2259200516 | TCAP | c.49C= (p.Arg17=)
| |
17 | g.39665408C>G | CA399302849 | TCAP | c.49C>G (p.Arg17Gly)
| gnomAD v4 |
17 | g.39665408C>T | CA352101 | TCAP | c.49C>T (p.Arg17Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665409G>A | CA8532825 | TCAP | c.50G>A (p.Arg17His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665409G>C | CA8532824 | TCAP | c.50G>C (p.Arg17Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665409G= | CA2259200517 | TCAP | c.50G= (p.Arg17=)
| |
17 | g.39665409G>T | CA399302852 | TCAP | c.50G>T (p.Arg17Leu)
| |
17 | g.39665409_39665410delinsCT | CA658798824 | TCAP | c.50_51delinsCT (p.Arg17Pro)
| ClinVar dbSNP |
17 | g.39665409_39665410delinsGC | CA2259200518 | TCAP | c.50_51delinsGC (p.Arg17=)
| |
17 | g.39665410C>A | CA499670349 | TCAP | c.51C>A (p.Arg17=)
| |
17 | g.39665410C= | CA2259200519 | TCAP | c.51C= (p.Arg17=)
| |
17 | g.39665410C>G | CA499670351 | TCAP | c.51C>G (p.Arg17=)
| |
17 | g.39665410C>T | CA499670350 | TCAP | c.51C>T (p.Arg17=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665411C>A | CA499670352 | TCAP | c.52C>A (p.Arg18=)
| |
17 | g.39665411C= | CA2259200520 | TCAP | c.52C= (p.Arg18=)
| |
17 | g.39665411C>G | CA399302853 | TCAP | c.52C>G (p.Arg18Gly)
| |
17 | g.39665411C>T | CA10587902 | TCAP | c.52C>T (p.Arg18Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665412G>A | CA8532826 | TCAP | c.53G>A (p.Arg18Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665412G>C | CA399302854 | TCAP | c.53G>C (p.Arg18Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665412G= | CA2259200521 | TCAP | c.53G= (p.Arg18=)
| |
17 | g.39665412G>T | CA399302855 | TCAP | c.53G>T (p.Arg18Leu)
| |
17 | g.39665413G>A | CA499670353 | TCAP | c.54G>A (p.Arg18=)
| dbSNP |
17 | g.39665413G>C | CA8532827 | TCAP | c.54G>C (p.Arg18=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665413G= | CA2259200522 | TCAP | c.54G= (p.Arg18=)
| |
17 | g.39665413G>T | CA499670354 | TCAP | c.54G>T (p.Arg18=)
| |
17 | g.39665414G>A | CA399302856 | TCAP | c.55G>A (p.Glu19Lys)
| gnomAD v4 |
17 | g.39665414G>C | CA399302857 | TCAP | c.55G>C (p.Glu19Gln)
| |
17 | g.39665414G>T | CA399302859 | TCAP | c.55G>T (p.Glu19Ter)
| |
17 | g.39665415A>C | CA399302861 | TCAP | c.56A>C (p.Glu19Ala)
| |
17 | g.39665415A>G | CA399302865 | TCAP | c.56A>G (p.Glu19Gly)
| |
17 | g.39665415A>T | CA399302863 | TCAP | c.56A>T (p.Glu19Val)
| |
17 | g.39665416G>A | CA499670355 | TCAP | c.57G>A (p.Glu19=)
| |
17 | g.39665416G>C | CA399302868 | TCAP | c.57G>C (p.Glu19Asp)
| |
17 | g.39665416G>T | CA399302869 | TCAP | c.57G>T (p.Glu19Asp)
| COSMIC |
17 | g.39665417G>A | CA399302870 | TCAP | c.58G>A (p.Ala20Thr)
| |
17 | g.39665417G>C | CA399302873 | TCAP | c.58G>C (p.Ala20Pro)
| gnomAD v4 |
17 | g.39665417G= | CA2259200523 | TCAP | c.58G= (p.Ala20=)
| |
17 | g.39665417G>T | CA399302875 | TCAP | c.58G>T (p.Ala20Ser)
| ClinVar dbSNP |
17 | g.39665418C>A | CA399302878 | TCAP | c.59C>A (p.Ala20Asp)
| |
17 | g.39665418C>G | CA399302880 | TCAP | c.59C>G (p.Ala20Gly)
| |
17 | g.39665418C>T | CA399302882 | TCAP | c.59C>T (p.Ala20Val)
| gnomAD v4 |
17 | g.39665418_39665421delinsCCTT | CA2259200524 | TCAP | c.59_62delinsCCTT (p.Ala20=)
| |
17 | g.39665419C>A | CA499670356 | TCAP | c.60C>A (p.Ala20=)
| |
17 | g.39665419C= | CA2259200525 | TCAP | c.60C= (p.Ala20=)
| |
17 | g.39665419C>G | CA134937 | TCAP | c.60C>G (p.Ala20=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665419C>T | CA499670357 | TCAP | c.60C>T (p.Ala20=)
| |
17 | g.39665421_39665423del | CA771857880 | TCAP | c.62_64del (p.Phe21del)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665420T>A | CA399302891 | TCAP | c.61T>A (p.Phe21Ile)
| |
17 | g.39665420T>C | CA399302893 | TCAP | c.61T>C (p.Phe21Leu)
| |
17 | g.39665420T>G | CA399302894 | TCAP | c.61T>G (p.Phe21Val)
| |
17 | g.39665421T>A | CA399302900 | TCAP | c.62T>A (p.Phe21Tyr)
| |
17 | g.39665421T>C | CA399302897 | TCAP | c.62T>C (p.Phe21Ser)
| |
17 | g.39665421T>G | CA399302898 | TCAP | c.62T>G (p.Phe21Cys)
| |
17 | g.39665422C>A | CA399302902 | TCAP | c.63C>A (p.Phe21Leu)
| COSMIC |
17 | g.39665422C>G | CA399302903 | TCAP | c.63C>G (p.Phe21Leu)
| |
17 | g.39665422C>T | CA499670358 | TCAP | c.63C>T (p.Phe21=)
| COSMIC |
17 | g.39665423T>A | CA399302905 | TCAP | c.64T>A (p.Trp22Arg)
| |
17 | g.39665423T>C | CA399302907 | TCAP | c.64T>C (p.Trp22Arg)
| |
17 | g.39665423T>G | CA399302909 | TCAP | c.64T>G (p.Trp22Gly)
| |
17 | g.39665424G>A | CA399302913 | TCAP | c.65G>A (p.Trp22Ter)
| |
17 | g.39665424G>C | CA399302916 | TCAP | c.65G>C (p.Trp22Ser)
| gnomAD v4 |
17 | g.39665424G>T | CA399302921 | TCAP | c.65G>T (p.Trp22Leu)
| |
17 | g.39665425G>A | CA10606859 | TCAP | c.66G>A (p.Trp22Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665425G>C | CA399302929 | TCAP | c.66G>C (p.Trp22Cys)
| |
17 | g.39665425G= | CA2259200527 | TCAP | c.66G= (p.Trp22=)
| |
17 | g.39665425G>T | CA399302931 | TCAP | c.66G>T (p.Trp22Cys)
| |
17 | g.39665425_39665431del | CA2576253830 | TCAP | c.66_72del (p.Trp22CysfsTer5)
| |
17 | g.39665426G>A | CA399302940 | TCAP | c.67G>A (p.Ala23Thr)
| |
17 | g.39665426G>C | CA399302941 | TCAP | c.67G>C (p.Ala23Pro)
| |
17 | g.39665426G>T | CA399302939 | TCAP | c.67G>T (p.Ala23Ser)
| |
17 | g.39665427C>A | CA399302944 | TCAP | c.68C>A (p.Ala23Glu)
| |
17 | g.39665427C= | CA2259200529 | TCAP | c.68C= (p.Ala23=)
| |
17 | g.39665427C>G | CA399302942 | TCAP | c.68C>G (p.Ala23Gly)
| |
17 | g.39665427C>T | CA399302946 | TCAP | c.68C>T (p.Ala23Val)
| dbSNP gnomAD v4 |
17 | g.39665428A>C | CA499670359 | TCAP | c.69A>C (p.Ala23=)
| |
17 | g.39665428A>G | CA499670360 | TCAP | c.69A>G (p.Ala23=)
| dbSNP |
17 | g.39665428A>T | CA499670361 | TCAP | c.69A>T (p.Ala23=)
| gnomAD v4 |
17 | g.39665429G>A | CA399302949 | TCAP | c.70G>A (p.Glu24Lys)
| |
17 | g.39665429G>C | CA290433742 | TCAP | c.70G>C (p.Glu24Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665429G= | CA2259200532 | TCAP | c.70G= (p.Glu24=)
| |
17 | g.39665429G>T | CA399302950 | TCAP | c.70G>T (p.Glu24Ter)
| |
17 | g.39665430A>C | CA399302956 | TCAP | c.71A>C (p.Glu24Ala)
| |
17 | g.39665430A>G | CA399302959 | TCAP | c.71A>G (p.Glu24Gly)
| dbSNP |
17 | g.39665430A>T | CA399302962 | TCAP | c.71A>T (p.Glu24Val)
| |
17 | g.39665431A= | CA2259200537 | TCAP | c.72A= (p.Glu24=)
| |
17 | g.39665431A>C | CA399302966 | TCAP | c.72A>C (p.Glu24Asp)
| dbSNP |
17 | g.39665431A>G | CA499670362 | TCAP | c.72A>G (p.Glu24=)
| dbSNP |
17 | g.39665431A>T | CA399302969 | TCAP | c.72A>T (p.Glu24Asp)
| |
17 | g.39665432T>A | CA399302971 | TCAP | c.73T>A (p.Trp25Arg)
| gnomAD v4 |
17 | g.39665432T>C | CA399302974 | TCAP | c.73T>C (p.Trp25Arg)
| |
17 | g.39665432T>G | CA399302975 | TCAP | c.73T>G (p.Trp25Gly)
| dbSNP |
17 | g.39665432T= | CA2259200542 | TCAP | c.73T= (p.Trp25=)
| |
17 | g.39665433G>A | CA399302984 | TCAP | c.74G>A (p.Trp25Ter)
| |
17 | g.39665433G>C | CA399302986 | TCAP | c.74G>C (p.Trp25Ser)
| |
17 | g.39665433G>T | CA399302989 | TCAP | c.74G>T (p.Trp25Leu)
| |
17 | g.39665434G>A | CA8532828 | TCAP | c.75G>A (p.Trp25Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665434G>C | CA399303000 | TCAP | c.75G>C (p.Trp25Cys)
| gnomAD v4 |
17 | g.39665434G= | CA2259200545 | TCAP | c.75G= (p.Trp25=)
| |
17 | g.39665434G>T | CA399302994 | TCAP | c.75G>T (p.Trp25Cys)
| |
17 | g.39665435A>C | CA399303007 | TCAP | c.76A>C (p.Lys26Gln)
| |
17 | g.39665435A>G | CA399303008 | TCAP | c.76A>G (p.Lys26Glu)
| |
17 | g.39665435A>T | CA399303009 | TCAP | c.76A>T (p.Lys26Ter)
| |
17 | g.39665436A>C | CA399303010 | TCAP | c.77A>C (p.Lys26Thr)
| |
17 | g.39665436A>G | CA399303012 | TCAP | c.77A>G (p.Lys26Arg)
| gnomAD v4 |
17 | g.39665436A>T | CA399303016 | TCAP | c.77A>T (p.Lys26Met)
| |
17 | g.39665437G>A | CA499670363 | TCAP | c.78G>A (p.Lys26=)
| ClinVar dbSNP |
17 | g.39665437G>C | CA399303018 | TCAP | c.78G>C (p.Lys26Asn)
| |
17 | g.39665437G= | CA2259200548 | TCAP | c.78G= (p.Lys26=)
| |
17 | g.39665437G>T | CA399303020 | TCAP | c.78G>T (p.Lys26Asn)
| |
17 | g.39665438G>A | CA399303023 | TCAP | c.79G>A (p.Asp27Asn)
| COSMIC |
17 | g.39665438G>C | CA399303025 | TCAP | c.79G>C (p.Asp27His)
| |
17 | g.39665438G>T | CA399303028 | TCAP | c.79G>T (p.Asp27Tyr)
| |
17 | g.39665439A>C | CA399303041 | TCAP | c.80A>C (p.Asp27Ala)
| |
17 | g.39665439A>G | CA399303035 | TCAP | c.80A>G (p.Asp27Gly)
| |
17 | g.39665439A>T | CA399303032 | TCAP | c.80A>T (p.Asp27Val)
| |
17 | g.39665440T>A | CA399303044 | TCAP | c.81T>A (p.Asp27Glu)
| |
17 | g.39665440T>C | CA499670364 | TCAP | c.81T>C (p.Asp27=)
| |
17 | g.39665440T>G | CA399303046 | TCAP | c.81T>G (p.Asp27Glu)
| |
17 | g.39665441C>A | CA399303050 | TCAP | c.82C>A (p.Leu28Met)
| |
17 | g.39665441C= | CA2259200550 | TCAP | c.82C= (p.Leu28=)
| |
17 | g.39665441C>G | CA399303054 | TCAP | c.82C>G (p.Leu28Val)
| |
17 | g.39665441C>T | CA8532829 | TCAP | c.82C>T (p.Leu28=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665442T>A | CA399303060 | TCAP | c.83T>A (p.Leu28Gln)
| |
17 | g.39665442T>C | CA399303061 | TCAP | c.83T>C (p.Leu28Pro)
| |
17 | g.39665442T>G | CA399303066 | TCAP | c.83T>G (p.Leu28Arg)
| |
17 | g.39665443G>A | CA499670365 | TCAP | c.84G>A (p.Leu28=)
| |
17 | g.39665443G>C | CA499670366 | TCAP | c.84G>C (p.Leu28=)
| |
17 | g.39665443G>T | CA499670367 | TCAP | c.84G>T (p.Leu28=)
| |
17 | g.39665444A= | CA2259200553 | TCAP | c.85A= (p.Thr29=)
| |
17 | g.39665444A>C | CA399303069 | TCAP | c.85A>C (p.Thr29Pro)
| |
17 | g.39665444A>G | CA399303072 | TCAP | c.85A>G (p.Thr29Ala)
| |
17 | g.39665444A>T | CA8532830 | TCAP | c.85A>T (p.Thr29Ser)
| dbSNP ExAC gnomAD v2 |
17 | g.39665445C>A | CA399303084 | TCAP | c.86C>A (p.Thr29Lys)
| gnomAD v4 |
17 | g.39665445C>G | CA399303080 | TCAP | c.86C>G (p.Thr29Arg)
| |
17 | g.39665445C>T | CA399303078 | TCAP | c.86C>T (p.Thr29Ile)
| |
17 | g.39665446A= | CA2259200557 | TCAP | c.87A= (p.Thr29=)
| |
17 | g.39665446A>C | CA8532832 | TCAP | c.87A>C (p.Thr29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665446A>G | CA8532831 | TCAP | c.87A>G (p.Thr29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665446A>T | CA499670368 | TCAP | c.87A>T (p.Thr29=)
| |
17 | g.39665447C>A | CA399303091 | TCAP | c.88C>A (p.Leu30Met)
| |
17 | g.39665447C= | CA2259200559 | TCAP | c.88C= (p.Leu30=)
| |
17 | g.39665447C>G | CA399303095 | TCAP | c.88C>G (p.Leu30Val)
| ClinVar dbSNP gnomAD v2 |
17 | g.39665447C>T | CA499670369 | TCAP | c.88C>T (p.Leu30=)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665447_39665449delinsCTG | CA2259200558 | TCAP | c.88_90delinsCTG (p.Leu30=)
| |
17 | g.39665448T>A | CA399303098 | TCAP | c.89T>A (p.Leu30Gln)
| |
17 | g.39665448T>C | CA399303101 | TCAP | c.89T>C (p.Leu30Pro)
| |
17 | g.39665448T>G | CA399303104 | TCAP | c.89T>G (p.Leu30Arg)
| |
17 | g.39665449_39665450del | CA658656575 | TCAP | c.90_91del (p.Ser31HisfsTer11)
| ClinVar dbSNP |
17 | g.39665449G>A | CA499670370 | TCAP | c.90G>A (p.Leu30=)
| |
17 | g.39665449G>C | CA499670371 | TCAP | c.90G>C (p.Leu30=)
| |
17 | g.39665449G>T | CA499670372 | TCAP | c.90G>T (p.Leu30=)
| |
17 | g.39665450T>A | CA399303108 | TCAP | c.91T>A (p.Ser31Thr)
| |
17 | g.39665450T>C | CA399303109 | TCAP | c.91T>C (p.Ser31Pro)
| |
17 | g.39665450T>G | CA399303112 | TCAP | c.91T>G (p.Ser31Ala)
| |
17 | g.39665451C>A | CA399303116 | TCAP | c.92C>A (p.Ser31Tyr)
| |
17 | g.39665451C= | CA2259200562 | TCAP | c.92C= (p.Ser31=)
| |
17 | g.39665451C>G | CA399303120 | TCAP | c.92C>G (p.Ser31Cys)
| ClinVar dbSNP |
17 | g.39665451C>T | CA399303124 | TCAP | c.92C>T (p.Ser31Phe)
| gnomAD v4 |
17 | g.39665452C>A | CA499670373 | TCAP | c.93C>A (p.Ser31=)
| ClinVar |
17 | g.39665452C= | CA2259200564 | TCAP | c.93C= (p.Ser31=)
| |
17 | g.39665452C>G | CA499670374 | TCAP | c.93C>G (p.Ser31=)
| |
17 | g.39665452C>T | CA499670375 | TCAP | c.93C>T (p.Ser31=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665453A= | CA2259200566 | TCAP | c.94A= (p.Thr32=)
| |
17 | g.39665453A>C | CA399303132 | TCAP | c.94A>C (p.Thr32Pro)
| |
17 | g.39665453A>G | CA399303134 | TCAP | c.94A>G (p.Thr32Ala)
| |
17 | g.39665453A>T | CA399303128 | TCAP | c.94A>T (p.Thr32Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665454C>A | CA399303143 | TCAP | c.95C>A (p.Thr32Lys)
| |
17 | g.39665454C>G | CA399303138 | TCAP | c.95C>G (p.Thr32Arg)
| |
17 | g.39665454C>T | CA399303141 | TCAP | c.95C>T (p.Thr32Ile)
| |
17 | g.39665455A>C | CA499670376 | TCAP | c.96A>C (p.Thr32=)
| |
17 | g.39665455A>G | CA499670377 | TCAP | c.96A>G (p.Thr32=)
| |
17 | g.39665455A>T | CA499670378 | TCAP | c.96A>T (p.Thr32=)
| |
17 | g.39665456C>A | CA499670379 | TCAP | c.97C>A (p.Arg33=)
| dbSNP |
17 | g.39665456C= | CA2259200568 | TCAP | c.97C= (p.Arg33=)
| |
17 | g.39665456C>G | CA399303147 | TCAP | c.97C>G (p.Arg33Gly)
| gnomAD v4 |
17 | g.39665456C>T | CA8532833 | TCAP | c.97C>T (p.Arg33Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665457G>A | CA399303153 | TCAP | c.98G>A (p.Arg33Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665457G>C | CA399303156 | TCAP | c.98G>C (p.Arg33Pro)
| |
17 | g.39665457G= | CA2259200570 | TCAP | c.98G= (p.Arg33=)
| |
17 | g.39665457G>T | CA399303159 | TCAP | c.98G>T (p.Arg33Leu)
| ClinVar dbSNP |
17 | g.39665458G>A | CA499670380 | TCAP | c.99G>A (p.Arg33=)
| |
17 | g.39665458G>C | CA499670381 | TCAP | c.99G>C (p.Arg33=)
| |
17 | g.39665458G>T | CA499670382 | TCAP | c.99G>T (p.Arg33=)
| |
17 | g.39665459C>A | CA399303162 | TCAP | c.100C>A (p.Pro34Thr)
| |
17 | g.39665459C= | CA2259200571 | TCAP | c.100C= (p.Pro34=)
| |
17 | g.39665459C>G | CA399303165 | TCAP | c.100C>G (p.Pro34Ala)
| |
17 | g.39665459C>T | CA399303168 | TCAP | c.100C>T (p.Pro34Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665461del | CA2695225717 | TCAP | c.102del (p.Glu35ArgfsTer?)
| |
17 | g.39665460C>A | CA399303171 | TCAP | c.101C>A (p.Pro34His)
| |
17 | g.39665460C>G | CA399303175 | TCAP | c.101C>G (p.Pro34Arg)
| gnomAD v4 COSMIC |
17 | g.39665460C>T | CA399303177 | TCAP | c.101C>T (p.Pro34Leu)
| |
17 | g.39665461C>A | CA499670383 | TCAP | c.102C>A (p.Pro34=)
| |
17 | g.39665461C= | CA2259200574 | TCAP | c.102C= (p.Pro34=)
| |
17 | g.39665461C>G | CA499670384 | TCAP | c.102C>G (p.Pro34=)
| ClinVar dbSNP gnomAD v2 |
17 | g.39665461C>T | CA16615339 | TCAP | c.102C>T (p.Pro34=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665462G>A | CA8532834 | TCAP | c.103G>A (p.Glu35Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39665462G>C | CA399303182 | TCAP | c.103G>C (p.Glu35Gln)
| |
17 | g.39665462G= | CA2259200578 | TCAP | c.103G= (p.Glu35=)
| |
17 | g.39665462G>T | CA10605419 | TCAP | c.103G>T (p.Glu35Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665463A= | CA2259200580 | TCAP | c.104A= (p.Glu35=)
| |
17 | g.39665463A>C | CA399303190 | TCAP | c.104A>C (p.Glu35Ala)
| |
17 | g.39665463A>G | CA399303192 | TCAP | c.104A>G (p.Glu35Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665463A>T | CA399303195 | TCAP | c.104A>T (p.Glu35Val)
| |
17 | g.39665464G>A | CA499670385 | TCAP | c.105G>A (p.Glu35=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665464G>C | CA399303198 | TCAP | c.105G>C (p.Glu35Asp)
| |
17 | g.39665464G= | CA2259200582 | TCAP | c.105G= (p.Glu35=)
| |
17 | g.39665464G>T | CA399303201 | TCAP | c.105G>T (p.Glu35Asp)
| |
17 | g.39665465G>A | CA399303205 | TCAP | c.106G>A (p.Glu36Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665465G>C | CA399303207 | TCAP | c.106G>C (p.Glu36Gln)
| |
17 | g.39665465G= | CA2259200583 | TCAP | c.106G= (p.Glu36=)
| |
17 | g.39665465G>T | CA399303211 | TCAP | c.106G>T (p.Glu36Ter)
| |
17 | g.39665466A= | CA2259200585 | TCAP | c.107A= (p.Glu36=)
| |
17 | g.39665466A>C | CA399303216 | TCAP | c.107A>C (p.Glu36Ala)
| |
17 | g.39665466A>G | CA290433766 | TCAP | c.107A>G (p.Glu36Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665466A>T | CA399303219 | TCAP | c.107A>T (p.Glu36Val)
| |
17 | g.39665466_39665468delinsAGG | CA2259200586 | TCAP | c.107_109delinsAGG (p.Glu36=)
| |
17 | g.39665467G>A | CA8532835 | TCAP | c.108G>A (p.Glu36=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39665467G>C | CA399303228 | TCAP | c.108G>C (p.Glu36Asp)
| |
17 | g.39665467G= | CA2259200589 | TCAP | c.108G= (p.Glu36=)
| |
17 | g.39665467G>T | CA399303225 | TCAP | c.108G>T (p.Glu36Asp)
| gnomAD v4 |
17 | g.39665469_39665470dup | CA2580613271 | TCAP | c.110_110+1dup
| ClinVar |
17 | g.39665469_39665470del | CA117570 | TCAP | c.110_110+1del
| ClinVar dbSNP |
17 | g.39665468G>A | CA399303236 | TCAP | c.109G>A (p.Gly37Ser)
| gnomAD v4 |
17 | g.39665468G>C | CA399303243 | TCAP | c.109G>C (p.Gly37Arg)
| |
17 | g.39665468G>T | CA399303240 | TCAP | c.109G>T (p.Gly37Cys)
| |
17 | g.39665469G>A | CA399303247 | TCAP | c.110G>A (p.Gly37Asp)
| gnomAD v4 |
17 | g.39665469G>C | CA399303249 | TCAP | c.110G>C (p.Gly37Ala)
| |
17 | g.39665469G= | CA2259200591 | TCAP | c.110G= (p.Gly37=)
| |
17 | g.39665469G>T | CA399303252 | TCAP | c.110G>T (p.Gly37Val)
| |
17 | g.39665470_39665472del | CA2637632205 | TCAP | c.110+1_110+3del
| gnomAD v4 |
17 | g.39665469_39665470insCT | CA625938826 | TCAP | c.110_110+1insCT (n.110_110+1insCT)
| dbSNP gnomAD v2 |
17 | g.39665470G>A | CA399303255 | TCAP | c.110+1G>A (n.110+1G>A)
| ClinVar dbSNP COSMIC |
17 | g.39665470G>C | CA290433767 | TCAP | c.110+1G>C (n.110+1G>C)
| dbSNP |
17 | g.39665470G= | CA2259200592 | TCAP | c.110+1G= (n.110+1G=)
| |
17 | g.39665470G>T | CA399303260 | TCAP | c.110+1G>T (n.110+1G>T)
| |
17 | g.39665470_39665471insCTCCCTGCA | CA625938827 | TCAP | c.110+1_110+2insCTCCCTGCA (n.110+1_110+2insCTCCCTGCA)
| dbSNP gnomAD v2 |
17 | g.39665471T>A | CA399303263 | TCAP | c.110+2T>A (n.110+2T>A)
| |
17 | g.39665471T>C | CA399303266 | TCAP | c.110+2T>C (n.110+2T>C)
| ClinVar |
17 | g.39665471T>G | CA399303269 | TCAP | c.110+2T>G (n.110+2T>G)
| |
17 | g.39665473A= | CA2259200599 | TCAP | c.110+4A= (n.110+4A=)
| |
17 | g.39665473A>G | CA983629252 | TCAP | c.110+4A>G (n.110+4A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665473_39665474insC | CA2637632207 | TCAP | c.110+4_110+5insC (n.110+4_110+5insC)
| gnomAD v4 |
17 | g.39665474G>A | CA290433771 | TCAP | c.110+5G>A (n.110+5G>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.39665474G>C | CA625938828 | TCAP | c.110+5G>C (n.110+5G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.39665474G= | CA2259200601 | TCAP | c.110+5G= (n.110+5G=)
| |
17 | g.39665474G>T | CA308852 | TCAP | c.110+5G>T (n.110+5G>T)
| ClinVar dbSNP |
17 | g.39665475T>A | CA2842171079 | TCAP | c.110+6T>A (n.110+6T>A)
| |
17 | g.39665475T>G | CA2580093657 | TCAP | c.110+6T>G (n.110+6T>G)
| ClinVar gnomAD v4 |
17 | g.39665476G>A | CA10587266 | TCAP | c.110+7G>A (n.110+7G>A)
| ClinVar dbSNP |
17 | g.39665476G= | CA2259200603 | TCAP | c.110+7G= (n.110+7G=)
| |
17 | g.39665476G>T | CA2637632209 | TCAP | c.110+7G>T (n.110+7G>T)
| gnomAD v4 |
17 | g.39665477T>C | CA983629254 | TCAP | c.110+8T>C (n.110+8T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665477T>G | CA2259200606 | TCAP | c.110+8T>G (n.110+8T>G)
| ClinVar dbSNP |
17 | g.39665477T= | CA2259200605 | TCAP | c.110+8T= (n.110+8T=)
| |
17 | g.39665478G>T | CA2637632210 | TCAP | c.110+9G>T (n.110+9G>T)
| gnomAD v4 |
17 | g.39665480del | CA2576253831 | TCAP | c.110+11del (n.110+11del)
| |
17 | g.39665479G>A | CA771857958 | TCAP | c.110+10G>A (n.110+10G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.39665479G= | CA2259200607 | TCAP | c.110+10G= (n.110+10G=)
| |
17 | g.39665479G>T | CA2842171080 | TCAP | c.110+10G>T (n.110+10G>T)
| |
17 | g.39665480G>C | CA2637632211 | TCAP | c.110+11G>C (n.110+11G>C)
| gnomAD v4 |
17 | g.39665480G>T | CA2839282901 | TCAP | c.110+11G>T (n.110+11G>T)
| |
17 | g.39665481T>C | CA2637632212 | TCAP | c.110+12T>C (n.110+12T>C)
| gnomAD v4 |
17 | g.39665482C>A | CA8532836 | TCAP | c.110+13C>A (n.110+13C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39665482C= | CA2259200608 | TCAP | c.110+13C= (n.110+13C=)
| |
17 | g.39665483T>A | CA8532837 | TCAP | c.110+14T>A (n.110+14T>A)
| dbSNP ExAC gnomAD v2 |
17 | g.39665483T>C | CA2840056124 | TCAP | c.110+14T>C (n.110+14T>C)
| |
17 | g.39665483T= | CA2259200619 | TCAP | c.110+14T= (n.110+14T=)
| |
17 | g.39665483_39665484insA | CA2637632214 | TCAP | c.110+14_110+15insA (n.110+14_110+15insA)
| gnomAD v4 |
17 | g.39665484G>A | CA2839282904 | TCAP | c.110+15G>A (n.110+15G>A)
| |
17 | g.39665484G>C | CA2839282906 | TCAP | c.110+15G>C (n.110+15G>C)
| |
17 | g.39665484G>T | CA2580093658 | TCAP | c.110+15G>T (n.110+15G>T)
| ClinVar |