UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.78870949C>A | CA401286850 | CEP295NL,TIMP2 | c.58G>T (p.Val20Leu) c.289G>T (p.Val97Leu) | |
| 17 | g.78870949C= | CA2277198172 | CEP295NL,TIMP2 | c.58G= (p.Val20=) c.289G= (p.Val97=) | |
| 17 | g.78870949C>G | CA401286852 | CEP295NL,TIMP2 | c.58G>C (p.Val20Leu) c.289G>C (p.Val97Leu) | |
| 17 | g.78870949C>T | CA8807708 | CEP295NL,TIMP2 | c.58G>A (p.Val20Met) c.289G>A (p.Val97Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870950T>A | CA502131210 | CEP295NL,TIMP2 | c.57A>T (p.Ala19=) c.288A>T (p.Ala96=) | |
| 17 | g.78870950T>C | CA502131212 | CEP295NL,TIMP2 | c.57A>G (p.Ala19=) c.288A>G (p.Ala96=) | |
| 17 | g.78870950T>G | CA502131214 | CEP295NL,TIMP2 | c.57A>C (p.Ala19=) c.288A>C (p.Ala96=) | |
| 17 | g.78870951G>A | CA401286857 | CEP295NL,TIMP2 | c.56C>T (p.Ala19Val) c.287C>T (p.Ala96Val) | |
| 17 | g.78870951G>C | CA401286861 | CEP295NL,TIMP2 | c.56C>G (p.Ala19Gly) c.287C>G (p.Ala96Gly) | |
| 17 | g.78870951G>T | CA401286859 | CEP295NL,TIMP2 | c.56C>A (p.Ala19Glu) c.287C>A (p.Ala96Glu) | COSMIC |
| 17 | g.78870952C>A | CA401286865 | CEP295NL,TIMP2 | c.55G>T (p.Ala19Ser) c.286G>T (p.Ala96Ser) | |
| 17 | g.78870952C>G | CA401286867 | CEP295NL,TIMP2 | c.55G>C (p.Ala19Pro) c.286G>C (p.Ala96Pro) | |
| 17 | g.78870952C>T | CA401286870 | CEP295NL,TIMP2 | c.55G>A (p.Ala19Thr) c.286G>A (p.Ala96Thr) | |
| 17 | g.78870953C>A | CA502131224 | CEP295NL,TIMP2 | c.54G>T (p.Ser18=) c.285G>T (p.Ser95=) | |
| 17 | g.78870953C= | CA2277198174 | CEP295NL,TIMP2 | c.54G= (p.Ser18=) c.285G= (p.Ser95=) | |
| 17 | g.78870953C>G | CA502131226 | CEP295NL,TIMP2 | c.54G>C (p.Ser18=) c.285G>C (p.Ser95=) | |
| 17 | g.78870953C>T | CA8807709 | CEP295NL,TIMP2 | c.54G>A (p.Ser18=) c.285G>A (p.Ser95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870953_78870956delinsCGAG | CA2277198173 | CEP295NL,TIMP2 | c.51_54delinsCTCG (p.Ser17=) c.282_285delinsCTCG (p.Ser94=) | |
| 17 | g.78870954G>A | CA401286874 | CEP295NL,TIMP2 | c.53C>T (p.Ser18Leu) c.284C>T (p.Ser95Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870954G>C | CA401286879 | CEP295NL,TIMP2 | c.53C>G (p.Ser18Trp) c.284C>G (p.Ser95Trp) | |
| 17 | g.78870954G= | CA2277198176 | CEP295NL,TIMP2 | c.53C= (p.Ser18=) c.284C= (p.Ser95=) | |
| 17 | g.78870954G>T | CA401286877 | CEP295NL,TIMP2 | c.53C>A (p.Ser18Ter) c.284C>A (p.Ser95Ter) | |
| 17 | g.78870958_78870960del | CA2277198175 | CEP295NL,TIMP2 | c.51_53del (p.Ser18del) c.282_284del (p.Ser95del) | dbSNP |
| 17 | g.78870955A>C | CA401286882 | CEP295NL,TIMP2 | c.52T>G (p.Ser18Ala) c.283T>G (p.Ser95Ala) | |
| 17 | g.78870955A>G | CA401286885 | CEP295NL,TIMP2 | c.52T>C (p.Ser18Pro) c.283T>C (p.Ser95Pro) | |
| 17 | g.78870955A>T | CA401286895 | CEP295NL,TIMP2 | c.52T>A (p.Ser18Thr) c.283T>A (p.Ser95Thr) | |
| 17 | g.78870956G>A | CA502131237 | CEP295NL,TIMP2 | c.51C>T (p.Ser17=) c.282C>T (p.Ser94=) | gnomAD v4 |
| 17 | g.78870956G>C | CA8807710 | CEP295NL,TIMP2 | c.51C>G (p.Ser17=) c.282C>G (p.Ser94=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870956G= | CA2277198177 | CEP295NL,TIMP2 | c.51C= (p.Ser17=) c.282C= (p.Ser94=) | |
| 17 | g.78870956G>T | CA502131235 | CEP295NL,TIMP2 | c.51C>A (p.Ser17=) c.282C>A (p.Ser94=) | |
| 17 | g.78870957G>A | CA294435300 | CEP295NL,TIMP2 | c.50C>T (p.Ser17Phe) c.281C>T (p.Ser94Phe) | dbSNP |
| 17 | g.78870957G>C | CA401286900 | CEP295NL,TIMP2 | c.50C>G (p.Ser17Cys) c.281C>G (p.Ser94Cys) | |
| 17 | g.78870957G= | CA2277198178 | CEP295NL,TIMP2 | c.50C= (p.Ser17=) c.281C= (p.Ser94=) | |
| 17 | g.78870957G>T | CA401286901 | CEP295NL,TIMP2 | c.50C>A (p.Ser17Tyr) c.281C>A (p.Ser94Tyr) | |
| 17 | g.78870958A= | CA2277198179 | CEP295NL,TIMP2 | c.49T= (p.Ser17=) c.280T= (p.Ser94=) | |
| 17 | g.78870958A>C | CA8807711 | CEP295NL,TIMP2 | c.49T>G (p.Ser17Ala) c.280T>G (p.Ser94Ala) | dbSNP ExAC gnomAD v2 |
| 17 | g.78870958A>G | CA401286904 | CEP295NL,TIMP2 | c.49T>C (p.Ser17Pro) c.280T>C (p.Ser94Pro) | |
| 17 | g.78870958A>T | CA401286907 | CEP295NL,TIMP2 | c.49T>A (p.Ser17Thr) c.280T>A (p.Ser94Thr) | |
| 17 | g.78870959G>A | CA8807712 | CEP295NL,TIMP2 | c.48C>T (p.Pro16=) c.279C>T (p.Pro93=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870959G>C | CA502131250 | CEP295NL,TIMP2 | c.48C>G (p.Pro16=) c.279C>G (p.Pro93=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870959G= | CA2277198180 | CEP295NL,TIMP2 | c.48C= (p.Pro16=) c.279C= (p.Pro93=) | |
| 17 | g.78870959G>T | CA502131252 | CEP295NL,TIMP2 | c.48C>A (p.Pro16=) c.279C>A (p.Pro93=) | gnomAD v4 |
| 17 | g.78870963dup | CA2810547049 | CEP295NL,TIMP2 | c.48dup (p.Ser17LeufsTer?) c.48dup (p.Ser17LeufsTer23) c.279dup (p.Ser94LeufsTer?) | |
| 17 | g.78870963del | CA502131254 | CEP295NL,TIMP2 | c.48del (p.Ser17ProfsTer?) c.279del (p.Ser94ProfsTer?) | COSMIC |
| 17 | g.78870960G>A | CA401286911 | CEP295NL,TIMP2 | c.47C>T (p.Pro16Leu) c.278C>T (p.Pro93Leu) | dbSNP gnomAD v4 |
| 17 | g.78870960G>C | CA8807713 | CEP295NL,TIMP2 | c.47C>G (p.Pro16Arg) c.278C>G (p.Pro93Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870960G= | CA2277198181 | CEP295NL,TIMP2 | c.47C= (p.Pro16=) c.278C= (p.Pro93=) | |
| 17 | g.78870960G>T | CA401286914 | CEP295NL,TIMP2 | c.47C>A (p.Pro16His) c.278C>A (p.Pro93His) | |
| 17 | g.78870961G>A | CA401286918 | CEP295NL,TIMP2 | c.46C>T (p.Pro16Ser) c.277C>T (p.Pro93Ser) | |
| 17 | g.78870961G>C | CA401286920 | CEP295NL,TIMP2 | c.46C>G (p.Pro16Ala) c.277C>G (p.Pro93Ala) | |
| 17 | g.78870961G>T | CA401286919 | CEP295NL,TIMP2 | c.46C>A (p.Pro16Thr) c.277C>A (p.Pro93Thr) | |
| 17 | g.78870962G>A | CA502131263 | CEP295NL,TIMP2 | c.45C>T (p.Ala15=) c.276C>T (p.Ala92=) | gnomAD v4 |
| 17 | g.78870962G>C | CA502131265 | CEP295NL,TIMP2 | c.45C>G (p.Ala15=) c.276C>G (p.Ala92=) | |
| 17 | g.78870962G>T | CA502131267 | CEP295NL,TIMP2 | c.45C>A (p.Ala15=) c.276C>A (p.Ala92=) | |
| 17 | g.78870963G>A | CA401286922 | CEP295NL,TIMP2 | c.44C>T (p.Ala15Val) c.275C>T (p.Ala92Val) | dbSNP COSMIC |
| 17 | g.78870963G>C | CA401286924 | CEP295NL,TIMP2 | c.44C>G (p.Ala15Gly) c.275C>G (p.Ala92Gly) | |
| 17 | g.78870963G= | CA2277198182 | CEP295NL,TIMP2 | c.44C= (p.Ala15=) c.275C= (p.Ala92=) | |
| 17 | g.78870963G>T | CA401286927 | CEP295NL,TIMP2 | c.44C>A (p.Ala15Asp) c.275C>A (p.Ala92Asp) | |
| 17 | g.78870964C>A | CA401286929 | CEP295NL,TIMP2 | c.43G>T (p.Ala15Ser) c.274G>T (p.Ala92Ser) | |
| 17 | g.78870964C= | CA2277198183 | CEP295NL,TIMP2 | c.43G= (p.Ala15=) c.274G= (p.Ala92=) | |
| 17 | g.78870964C>G | CA401286931 | CEP295NL,TIMP2 | c.43G>C (p.Ala15Pro) c.274G>C (p.Ala92Pro) | gnomAD v4 |
| 17 | g.78870964C>T | CA401286934 | CEP295NL,TIMP2 | c.43G>A (p.Ala15Thr) c.274G>A (p.Ala92Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.78870965C>A | CA502131275 | CEP295NL,TIMP2 | c.42G>T (p.Thr14=) c.273G>T (p.Thr91=) | |
| 17 | g.78870965C= | CA2277198184 | CEP295NL,TIMP2 | c.42G= (p.Thr14=) c.273G= (p.Thr91=) | |
| 17 | g.78870965C>G | CA502131277 | CEP295NL,TIMP2 | c.42G>C (p.Thr14=) c.273G>C (p.Thr91=) | |
| 17 | g.78870965C>T | CA8807714 | CEP295NL,TIMP2 | c.42G>A (p.Thr14=) c.273G>A (p.Thr91=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870966G>A | CA401286938 | CEP295NL,TIMP2 | c.41C>T (p.Thr14Met) c.272C>T (p.Thr91Met) | gnomAD v4 |
| 17 | g.78870966G>C | CA401286941 | CEP295NL,TIMP2 | c.41C>G (p.Thr14Arg) c.272C>G (p.Thr91Arg) | |
| 17 | g.78870966G>T | CA401286946 | CEP295NL,TIMP2 | c.41C>A (p.Thr14Lys) c.272C>A (p.Thr91Lys) | |
| 17 | g.78870967T>A | CA401286949 | CEP295NL,TIMP2 | c.40A>T (p.Thr14Ser) c.271A>T (p.Thr91Ser) | |
| 17 | g.78870967T>C | CA401286950 | CEP295NL,TIMP2 | c.40A>G (p.Thr14Ala) c.271A>G (p.Thr91Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870967T>G | CA401286952 | CEP295NL,TIMP2 | c.40A>C (p.Thr14Pro) c.271A>C (p.Thr91Pro) | |
| 17 | g.78870967T= | CA2277198185 | CEP295NL,TIMP2 | c.40A= (p.Thr14=) c.271A= (p.Thr91=) | |
| 17 | g.78870968G>A | CA502131286 | CEP295NL,TIMP2 | c.39C>T (p.Tyr13=) c.270C>T (p.Tyr90=) | |
| 17 | g.78870968G>C | CA401286955 | CEP295NL,TIMP2 | c.39C>G (p.Tyr13Ter) c.270C>G (p.Tyr90Ter) | |
| 17 | g.78870968G>T | CA401286957 | CEP295NL,TIMP2 | c.39C>A (p.Tyr13Ter) c.270C>A (p.Tyr90Ter) | |
| 17 | g.78870969T>A | CA8807715 | CEP295NL,TIMP2 | c.38A>T (p.Tyr13Phe) c.269A>T (p.Tyr90Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870969T>C | CA8807716 | CEP295NL,TIMP2 | c.38A>G (p.Tyr13Cys) c.269A>G (p.Tyr90Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870969T>G | CA401286964 | CEP295NL,TIMP2 | c.38A>C (p.Tyr13Ser) c.269A>C (p.Tyr90Ser) | |
| 17 | g.78870969T= | CA2277198186 | CEP295NL,TIMP2 | c.38A= (p.Tyr13=) c.269A= (p.Tyr90=) | |
| 17 | g.78870970A= | CA2277198187 | CEP295NL,TIMP2 | c.37T= (p.Tyr13=) c.268T= (p.Tyr90=) | |
| 17 | g.78870970A>C | CA401286966 | CEP295NL,TIMP2 | c.37T>G (p.Tyr13Asp) c.268T>G (p.Tyr90Asp) | |
| 17 | g.78870970A>G | CA8807717 | CEP295NL,TIMP2 | c.37T>C (p.Tyr13His) c.268T>C (p.Tyr90His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870970A>T | CA401286968 | CEP295NL,TIMP2 | c.37T>A (p.Tyr13Asn) c.268T>A (p.Tyr90Asn) | |
| 17 | g.78870971G>A | CA502131298 | CEP295NL,TIMP2 | c.36C>T (p.Ile12=) c.267C>T (p.Ile89=) | |
| 17 | g.78870971G>C | CA401286971 | CEP295NL,TIMP2 | c.36C>G (p.Ile12Met) c.267C>G (p.Ile89Met) | |
| 17 | g.78870971G>T | CA502131301 | CEP295NL,TIMP2 | c.36C>A (p.Ile12=) c.267C>A (p.Ile89=) | |
| 17 | g.78870972A>C | CA401286974 | CEP295NL,TIMP2 | c.35T>G (p.Ile12Ser) c.266T>G (p.Ile89Ser) | |
| 17 | g.78870972A>G | CA401286977 | CEP295NL,TIMP2 | c.35T>C (p.Ile12Thr) c.266T>C (p.Ile89Thr) | |
| 17 | g.78870972A>T | CA401286979 | CEP295NL,TIMP2 | c.35T>A (p.Ile12Asn) c.266T>A (p.Ile89Asn) | |
| 17 | g.78870973_78870976del | CA2510640693 | CEP295NL,TIMP2 | c.32_35del (p.Phe11SerfsTer?) c.263_266del (p.Phe88SerfsTer?) | |
| 17 | g.78870973T>A | CA401286986 | CEP295NL,TIMP2 | c.34A>T (p.Ile12Phe) c.265A>T (p.Ile89Phe) | |
| 17 | g.78870973T>C | CA401286984 | CEP295NL,TIMP2 | c.34A>G (p.Ile12Val) c.265A>G (p.Ile89Val) | |
| 17 | g.78870973T>G | CA401286983 | CEP295NL,TIMP2 | c.34A>C (p.Ile12Leu) c.265A>C (p.Ile89Leu) | |
| 17 | g.78870974A>C | CA401286989 | CEP295NL,TIMP2 | c.33T>G (p.Phe11Leu) c.264T>G (p.Phe88Leu) | |
| 17 | g.78870974A>G | CA502131316 | CEP295NL,TIMP2 | c.33T>C (p.Phe11=) c.264T>C (p.Phe88=) | gnomAD v4 |
| 17 | g.78870974A>T | CA401286991 | CEP295NL,TIMP2 | c.33T>A (p.Phe11Leu) c.264T>A (p.Phe88Leu) | |
| 17 | g.78870975A>C | CA401286995 | CEP295NL,TIMP2 | c.32T>G (p.Phe11Cys) c.263T>G (p.Phe88Cys) | |
| 17 | g.78870975A>G | CA401286996 | CEP295NL,TIMP2 | c.32T>C (p.Phe11Ser) c.263T>C (p.Phe88Ser) | |
| 17 | g.78870975A>T | CA401286998 | CEP295NL,TIMP2 | c.32T>A (p.Phe11Tyr) c.263T>A (p.Phe88Tyr) | |
| 17 | g.78870976A>C | CA401287002 | CEP295NL,TIMP2 | c.31T>G (p.Phe11Val) c.262T>G (p.Phe88Val) | |
| 17 | g.78870976A>G | CA401287004 | CEP295NL,TIMP2 | c.31T>C (p.Phe11Leu) c.262T>C (p.Phe88Leu) | |
| 17 | g.78870976A>T | CA401287005 | CEP295NL,TIMP2 | c.31T>A (p.Phe11Ile) c.262T>A (p.Phe88Ile) | |
| 17 | g.78870977C>A | CA401287007 | CEP295NL,TIMP2 | c.30G>T (p.Glu10Asp) c.261G>T (p.Glu87Asp) | |
| 17 | g.78870977C>G | CA401287009 | CEP295NL,TIMP2 | c.30G>C (p.Glu10Asp) c.261G>C (p.Glu87Asp) | |
| 17 | g.78870977C>T | CA502131326 | CEP295NL,TIMP2 | c.30G>A (p.Glu10=) c.261G>A (p.Glu87=) | dbSNP gnomAD v4 |
| 17 | g.78870978T>A | CA401287011 | CEP295NL,TIMP2 | c.29A>T (p.Glu10Val) c.260A>T (p.Glu87Val) | |
| 17 | g.78870978T>C | CA401287013 | CEP295NL,TIMP2 | c.29A>G (p.Glu10Gly) c.260A>G (p.Glu87Gly) | |
| 17 | g.78870978T>G | CA401287016 | CEP295NL,TIMP2 | c.29A>C (p.Glu10Ala) c.260A>C (p.Glu87Ala) | |
| 17 | g.78870979C>A | CA401287022 | CEP295NL,TIMP2 | c.28G>T (p.Glu10Ter) c.259G>T (p.Glu87Ter) | |
| 17 | g.78870979C>G | CA401287019 | CEP295NL,TIMP2 | c.28G>C (p.Glu10Gln) c.259G>C (p.Glu87Gln) | |
| 17 | g.78870979C>T | CA401287020 | CEP295NL,TIMP2 | c.28G>A (p.Glu10Lys) c.259G>A (p.Glu87Lys) | |
| 17 | g.78870980T>A | CA502131338 | CEP295NL,TIMP2 | c.27A>T (p.Ile9=) c.258A>T (p.Ile86=) | |
| 17 | g.78870980T>C | CA401287024 | CEP295NL,TIMP2 | c.27A>G (p.Ile9Met) c.258A>G (p.Ile86Met) | |
| 17 | g.78870980T>G | CA502131339 | CEP295NL,TIMP2 | c.27A>C (p.Ile9=) c.258A>C (p.Ile86=) | dbSNP |
| 17 | g.78870981A= | CA2277198188 | CEP295NL,TIMP2 | c.26T= (p.Ile9=) c.257T= (p.Ile86=) | |
| 17 | g.78870981A>C | CA401287027 | CEP295NL,TIMP2 | c.26T>G (p.Ile9Arg) c.257T>G (p.Ile86Arg) | |
| 17 | g.78870981A>G | CA401287029 | CEP295NL,TIMP2 | c.26T>C (p.Ile9Thr) c.257T>C (p.Ile86Thr) | dbSNP gnomAD v4 |
| 17 | g.78870981A>T | CA401287032 | CEP295NL,TIMP2 | c.26T>A (p.Ile9Lys) c.257T>A (p.Ile86Lys) | |
| 17 | g.78870982T>A | CA401287036 | CEP295NL,TIMP2 | c.25A>T (p.Ile9Leu) c.256A>T (p.Ile86Leu) | |
| 17 | g.78870982T>C | CA401287038 | CEP295NL,TIMP2 | c.25A>G (p.Ile9Val) c.256A>G (p.Ile86Val) | |
| 17 | g.78870982T>G | CA401287040 | CEP295NL,TIMP2 | c.25A>C (p.Ile9Leu) c.256A>C (p.Ile86Leu) | |
| 17 | g.78870983A>C | CA401287043 | CEP295NL,TIMP2 | c.24T>G (p.Asp8Glu) c.255T>G (p.Asp85Glu) | |
| 17 | g.78870983A>G | CA502131350 | CEP295NL,TIMP2 | c.24T>C (p.Asp8=) c.255T>C (p.Asp85=) | dbSNP |
| 17 | g.78870983A>T | CA401287045 | CEP295NL,TIMP2 | c.24T>A (p.Asp8Glu) c.255T>A (p.Asp85Glu) | |
| 17 | g.78870984T>A | CA401287048 | CEP295NL,TIMP2 | c.23A>T (p.Asp8Val) c.254A>T (p.Asp85Val) | dbSNP gnomAD v4 |
| 17 | g.78870984T>C | CA401287050 | CEP295NL,TIMP2 | c.23A>G (p.Asp8Gly) c.254A>G (p.Asp85Gly) | |
| 17 | g.78870984T>G | CA401287052 | CEP295NL,TIMP2 | c.23A>C (p.Asp8Ala) c.254A>C (p.Asp85Ala) | |
| 17 | g.78870984T= | CA2277198189 | CEP295NL,TIMP2 | c.23A= (p.Asp8=) c.254A= (p.Asp85=) | |
| 17 | g.78870985C>A | CA401287058 | CEP295NL,TIMP2 | c.22G>T (p.Asp8Tyr) c.253G>T (p.Asp85Tyr) | |
| 17 | g.78870985C>G | CA401287060 | CEP295NL,TIMP2 | c.22G>C (p.Asp8His) c.253G>C (p.Asp85His) | |
| 17 | g.78870985C>T | CA401287056 | CEP295NL,TIMP2 | c.22G>A (p.Asp8Asn) c.253G>A (p.Asp85Asn) | COSMIC |
| 17 | g.78870985_78870988delinsCCTT | CA2277198190 | CEP295NL,TIMP2 | c.19_22delinsAAGG (p.Lys7=) c.250_253delinsAAGG (p.Lys84=) | |
| 17 | g.78870986C>A | CA401287063 | CEP295NL,TIMP2 | c.21G>T (p.Lys7Asn) c.252G>T (p.Lys84Asn) | |
| 17 | g.78870986C= | CA2277198192 | CEP295NL,TIMP2 | c.21G= (p.Lys7=) c.252G= (p.Lys84=) | |
| 17 | g.78870986C>G | CA401287061 | CEP295NL,TIMP2 | c.21G>C (p.Lys7Asn) c.252G>C (p.Lys84Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870986C>T | CA502131360 | CEP295NL,TIMP2 | c.21G>A (p.Lys7=) c.252G>A (p.Lys84=) | |
| 17 | g.78870988_78870990del | CA2277198191 | CEP295NL,TIMP2 | c.19_21del (p.Lys7del) c.250_252del (p.Lys84del) | dbSNP |
| 17 | g.78870987T>A | CA401287071 | CEP295NL,TIMP2 | c.20A>T (p.Lys7Met) c.251A>T (p.Lys84Met) | |
| 17 | g.78870987T>C | CA401287066 | CEP295NL,TIMP2 | c.20A>G (p.Lys7Arg) c.251A>G (p.Lys84Arg) | |
| 17 | g.78870987T>G | CA401287068 | CEP295NL,TIMP2 | c.20A>C (p.Lys7Thr) c.251A>C (p.Lys84Thr) | |
| 17 | g.78870988T>A | CA401287074 | CEP295NL,TIMP2 | c.19A>T (p.Lys7Ter) c.250A>T (p.Lys84Ter) | |
| 17 | g.78870988T>C | CA401287076 | CEP295NL,TIMP2 | c.19A>G (p.Lys7Glu) c.250A>G (p.Lys84Glu) | |
| 17 | g.78870988T>G | CA401287078 | CEP295NL,TIMP2 | c.19A>C (p.Lys7Gln) c.250A>C (p.Lys84Gln) | |
| 17 | g.78870989C>A | CA401287081 | CEP295NL,TIMP2 | c.18G>T (p.Glu6Asp) c.249G>T (p.Glu83Asp) | COSMIC |
| 17 | g.78870989C>G | CA401287083 | CEP295NL,TIMP2 | c.18G>C (p.Glu6Asp) c.249G>C (p.Glu83Asp) | dbSNP |
| 17 | g.78870989C>T | CA502131370 | CEP295NL,TIMP2 | c.18G>A (p.Glu6=) c.249G>A (p.Glu83=) | dbSNP |
| 17 | g.78870990T>A | CA401287087 | CEP295NL,TIMP2 | c.17A>T (p.Glu6Val) c.248A>T (p.Glu83Val) | |
| 17 | g.78870990T>C | CA401287089 | CEP295NL,TIMP2 | c.17A>G (p.Glu6Gly) c.248A>G (p.Glu83Gly) | dbSNP |
| 17 | g.78870990T>G | CA401287091 | CEP295NL,TIMP2 | c.17A>C (p.Glu6Ala) c.248A>C (p.Glu83Ala) | |
| 17 | g.78870990T= | CA2277198193 | CEP295NL,TIMP2 | c.17A= (p.Glu6=) c.248A= (p.Glu83=) | |
| 17 | g.78870991C>A | CA401287095 | CEP295NL,TIMP2 | c.16G>T (p.Glu6Ter) c.247G>T (p.Glu83Ter) | |
| 17 | g.78870991C>G | CA401287097 | CEP295NL,TIMP2 | c.16G>C (p.Glu6Gln) c.247G>C (p.Glu83Gln) | gnomAD v4 COSMIC |
| 17 | g.78870991C>T | CA401287099 | CEP295NL,TIMP2 | c.16G>A (p.Glu6Lys) c.247G>A (p.Glu83Lys) | gnomAD v4 |
| 17 | g.78870992A>C | CA502131380 | CEP295NL,TIMP2 | c.15T>G (p.Pro5=) c.246T>G (p.Pro82=) | |
| 17 | g.78870992A>G | CA502131383 | CEP295NL,TIMP2 | c.15T>C (p.Pro5=) c.246T>C (p.Pro82=) | gnomAD v4 |
| 17 | g.78870992A>T | CA502131384 | CEP295NL,TIMP2 | c.15T>A (p.Pro5=) c.246T>A (p.Pro82=) | |
| 17 | g.78870993G>A | CA401287105 | CEP295NL,TIMP2 | c.14C>T (p.Pro5Leu) c.245C>T (p.Pro82Leu) | |
| 17 | g.78870993G>C | CA401287104 | CEP295NL,TIMP2 | c.14C>G (p.Pro5Arg) c.245C>G (p.Pro82Arg) | |
| 17 | g.78870993G>T | CA401287102 | CEP295NL,TIMP2 | c.14C>A (p.Pro5His) c.245C>A (p.Pro82His) | |
| 17 | g.78870994G>A | CA8807718 | CEP295NL,TIMP2 | c.13C>T (p.Pro5Ser) c.244C>T (p.Pro82Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870994G>C | CA401287110 | CEP295NL,TIMP2 | c.13C>G (p.Pro5Ala) c.244C>G (p.Pro82Ala) | |
| 17 | g.78870994G= | CA2277198194 | CEP295NL,TIMP2 | c.13C= (p.Pro5=) c.244C= (p.Pro82=) | |
| 17 | g.78870994G>T | CA401287112 | CEP295NL,TIMP2 | c.13C>A (p.Pro5Thr) c.244C>A (p.Pro82Thr) | |
| 17 | g.78870995C>A | CA502131395 | CEP295NL,TIMP2 | c.12G>T (p.Gly4=) c.243G>T (p.Gly81=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870995C= | CA2277198195 | CEP295NL,TIMP2 | c.12G= (p.Gly4=) c.243G= (p.Gly81=) | |
| 17 | g.78870995C>G | CA502131397 | CEP295NL,TIMP2 | c.12G>C (p.Gly4=) c.243G>C (p.Gly81=) | |
| 17 | g.78870995C>T | CA502131399 | CEP295NL,TIMP2 | c.12G>A (p.Gly4=) c.243G>A (p.Gly81=) | dbSNP |
| 17 | g.78870996C>A | CA401287116 | CEP295NL,TIMP2 | c.11G>T (p.Gly4Val) c.242G>T (p.Gly81Val) | |
| 17 | g.78870996C>G | CA401287118 | CEP295NL,TIMP2 | c.11G>C (p.Gly4Ala) c.242G>C (p.Gly81Ala) | |
| 17 | g.78870996C>T | CA401287120 | CEP295NL,TIMP2 | c.11G>A (p.Gly4Glu) c.242G>A (p.Gly81Glu) | |
| 17 | g.78870997C>A | CA401287123 | CEP295NL,TIMP2 | c.10G>T (p.Gly4Trp) c.241G>T (p.Gly81Trp) | |
| 17 | g.78870997C>G | CA401287124 | CEP295NL,TIMP2 | c.10G>C (p.Gly4Arg) c.241G>C (p.Gly81Arg) | |
| 17 | g.78870997C>T | CA401287127 | CEP295NL,TIMP2 | c.10G>A (p.Gly4Arg) c.241G>A (p.Gly81Arg) | gnomAD v4 |
| 17 | g.78870998T>A | CA401287130 | CEP295NL,TIMP2 | c.9A>T (p.Lys3Asn) c.240A>T (p.Lys80Asn) | |
| 17 | g.78870998T>C | CA502131409 | CEP295NL,TIMP2 | c.9A>G (p.Lys3=) c.240A>G (p.Lys80=) | |
| 17 | g.78870998T>G | CA401287132 | CEP295NL,TIMP2 | c.9A>C (p.Lys3Asn) c.240A>C (p.Lys80Asn) | |
| 17 | g.78870999T>A | CA401287136 | CEP295NL,TIMP2 | c.8A>T (p.Lys3Ile) c.239A>T (p.Lys80Ile) | |
| 17 | g.78870999T>C | CA401287138 | CEP295NL,TIMP2 | c.8A>G (p.Lys3Arg) c.239A>G (p.Lys80Arg) | gnomAD v4 |
| 17 | g.78870999T>G | CA401287140 | CEP295NL,TIMP2 | c.8A>C (p.Lys3Thr) c.239A>C (p.Lys80Thr) | |
| 17 | g.78871000T>A | CA401287145 | CEP295NL,TIMP2 | c.7A>T (p.Lys3Ter) c.238A>T (p.Lys80Ter) | |
| 17 | g.78871000T>C | CA401287148 | CEP295NL,TIMP2 | c.7A>G (p.Lys3Glu) c.238A>G (p.Lys80Glu) | |
| 17 | g.78871000T>G | CA401287143 | CEP295NL,TIMP2 | c.7A>C (p.Lys3Gln) c.238A>C (p.Lys80Gln) | |
| 17 | g.78871001G>A | CA502131419 | CEP295NL,TIMP2 | c.6C>T (p.Phe2=) c.237C>T (p.Phe79=) | gnomAD v4 |
| 17 | g.78871001G>C | CA401287151 | CEP295NL,TIMP2 | c.6C>G (p.Phe2Leu) c.237C>G (p.Phe79Leu) | |
| 17 | g.78871001G>T | CA401287153 | CEP295NL,TIMP2 | c.6C>A (p.Phe2Leu) c.237C>A (p.Phe79Leu) | |
| 17 | g.78871002A>C | CA401287154 | CEP295NL,TIMP2 | c.5T>G (p.Phe2Cys) c.236T>G (p.Phe79Cys) | |
| 17 | g.78871002A>G | CA401287156 | CEP295NL,TIMP2 | c.5T>C (p.Phe2Ser) c.236T>C (p.Phe79Ser) | |
| 17 | g.78871002A>T | CA401287159 | CEP295NL,TIMP2 | c.5T>A (p.Phe2Tyr) c.236T>A (p.Phe79Tyr) | |
| 17 | g.78871003A>C | CA401287162 | CEP295NL,TIMP2 | c.4T>G (p.Phe2Val) c.235T>G (p.Phe79Val) | |
| 17 | g.78871003A>G | CA401287163 | CEP295NL,TIMP2 | c.4T>C (p.Phe2Leu) c.235T>C (p.Phe79Leu) | |
| 17 | g.78871003A>T | CA401287166 | CEP295NL,TIMP2 | c.4T>A (p.Phe2Ile) c.235T>A (p.Phe79Ile) | |
| 17 | g.78871004C>A | CA401287169 | CEP295NL,TIMP2 | c.3G>T (p.Met1Ile) c.234G>T (p.Met78Ile) | |
| 17 | g.78871004C>G | CA401287172 | CEP295NL,TIMP2 | c.3G>C (p.Met1Ile) c.234G>C (p.Met78Ile) | |
| 17 | g.78871004C>T | CA401287174 | CEP295NL,TIMP2 | c.3G>A (p.Met1Ile) c.234G>A (p.Met78Ile) | |
| 17 | g.78871005A>C | CA401287182 | CEP295NL,TIMP2 | c.2T>G (p.Met1Arg) c.233T>G (p.Met78Arg) | |
| 17 | g.78871005A>G | CA401287180 | CEP295NL,TIMP2 | c.2T>C (p.Met1Thr) c.233T>C (p.Met78Thr) | |
| 17 | g.78871005A>T | CA401287178 | CEP295NL,TIMP2 | c.2T>A (p.Met1Lys) c.233T>A (p.Met78Lys) | |
| 17 | g.78871006T>A | CA401287185 | CEP295NL,TIMP2 | c.1A>T (p.Met1Leu) c.232A>T (p.Met78Leu) | |
| 17 | g.78871006T>C | CA401287188 | CEP295NL,TIMP2 | c.1A>G (p.Met1Val) c.232A>G (p.Met78Val) | |
| 17 | g.78871006T>G | CA401287190 | CEP295NL,TIMP2 | c.1A>C (p.Met1Leu) c.232A>C (p.Met78Leu) | |
| 17 | g.78871007C>A | CA401287192 | CEP295NL,TIMP2 | c.1-1G>T (n.1-1G>T) c.232-1G>T (n.232-1G>T) | |
| 17 | g.78871007C>G | CA401287195 | CEP295NL,TIMP2 | c.1-1G>C (n.1-1G>C) c.232-1G>C (n.232-1G>C) | |
| 17 | g.78871007C>T | CA401287196 | CEP295NL,TIMP2 | c.1-1G>A (n.1-1G>A) c.232-1G>A (n.232-1G>A) | |
| 17 | g.78871008T>A | CA401287199 | CEP295NL,TIMP2 | c.1-2A>T (n.1-2A>T) c.232-2A>T (n.232-2A>T) | |
| 17 | g.78871008T>C | CA401287201 | CEP295NL,TIMP2 | c.1-2A>G (n.1-2A>G) c.232-2A>G (n.232-2A>G) | |
| 17 | g.78871008T>G | CA401287203 | CEP295NL,TIMP2 | c.1-2A>C (n.1-2A>C) c.232-2A>C (n.232-2A>C) | |
| 17 | g.78871009G>A | CA8807719 | CEP295NL,TIMP2 | c.1-3C>T (n.1-3C>T) c.232-3C>T (n.232-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871009G= | CA2277198196 | CEP295NL,TIMP2 | c.1-3C= (n.1-3C=) c.232-3C= (n.232-3C=) | |
| 17 | g.78871009G>T | CA294435347 | CEP295NL,TIMP2 | c.1-3C>A (n.1-3C>A) c.232-3C>A (n.232-3C>A) | dbSNP |
| 17 | g.78871010G>C | CA627660207 | CEP295NL,TIMP2 | c.1-4C>G (n.1-4C>G) c.232-4C>G (n.232-4C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871010G= | CA2277198197 | CEP295NL,TIMP2 | c.1-4C= (n.1-4C=) c.232-4C= (n.232-4C=) | |
| 17 | g.78871011A= | CA2277198198 | CEP295NL,TIMP2 | c.1-5T= (n.1-5T=) c.232-5T= (n.232-5T=) | |
| 17 | g.78871011A>G | CA8807720 | CEP295NL,TIMP2 | c.1-5T>C (n.1-5T>C) c.232-5T>C (n.232-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871014G>A | CA2640201699 | CEP295NL,TIMP2 | c.1-8C>T (n.1-8C>T) c.232-8C>T (n.232-8C>T) | gnomAD v4 |
| 17 | g.78871017A>G | CA2640201701 | CEP295NL,TIMP2 | c.1-11T>C (n.1-11T>C) c.232-11T>C (n.232-11T>C) | gnomAD v4 |
| 17 | g.78871017_78871019del | CA2640201700 | CEP295NL,TIMP2 | c.1-13_1-11del (n.1-13_1-11del) c.232-13_232-11del (n.232-13_232-11del) | gnomAD v4 |
| 17 | g.78871025_78871027del | CA2558999875 | CEP295NL,TIMP2 | c.1-14_1-12del (n.1-14_1-12del) c.232-14_232-12del (n.232-14_232-12del) | |
| 17 | g.78871019G>A | CA2640201702 | CEP295NL,TIMP2 | c.1-13C>T (n.1-13C>T) c.232-13C>T (n.232-13C>T) | dbSNP gnomAD v4 |
| 17 | g.78871020G>A | CA2640201703 | CEP295NL,TIMP2 | c.1-14C>T (n.1-14C>T) c.232-14C>T (n.232-14C>T) | dbSNP gnomAD v4 |
| 17 | g.78871020G>C | CA2640201704 | CEP295NL,TIMP2 | c.1-14C>G (n.1-14C>G) c.232-14C>G (n.232-14C>G) | gnomAD v4 |
| 17 | g.78871021A= | CA2277198199 | CEP295NL,TIMP2 | c.1-15T= (n.1-15T=) c.232-15T= (n.232-15T=) | |
| 17 | g.78871021A>G | CA8807721 | CEP295NL,TIMP2 | c.1-15T>C (n.1-15T>C) c.232-15T>C (n.232-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78871023G>A | CA2562936331 | CEP295NL,TIMP2 | c.1-17C>T (n.1-17C>T) c.232-17C>T (n.232-17C>T) | gnomAD v4 |
| 17 | g.78871024A= | CA2277198200 | CEP295NL,TIMP2 | c.1-18T= (n.1-18T=) c.232-18T= (n.232-18T=) | |
| 17 | g.78871024A>G | CA627660208 | CEP295NL,TIMP2 | c.1-18T>C (n.1-18T>C) c.232-18T>C (n.232-18T>C) | dbSNP gnomAD v2 |
| 17 | g.78871025G>A | CA8807722 | CEP295NL,TIMP2 | c.1-19C>T (n.1-19C>T) c.232-19C>T (n.232-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871025G= | CA2277198201 | CEP295NL,TIMP2 | c.1-19C= (n.1-19C=) c.232-19C= (n.232-19C=) | |
| 17 | g.78871025G>T | CA2640201705 | CEP295NL,TIMP2 | c.1-19C>A (n.1-19C>A) c.232-19C>A (n.232-19C>A) | gnomAD v4 |
| 17 | g.78871026G>A | CA8807723 | CEP295NL,TIMP2 | c.1-20C>T (n.1-20C>T) c.232-20C>T (n.232-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871026G= | CA2277198202 | CEP295NL,TIMP2 | c.1-20C= (n.1-20C=) c.232-20C= (n.232-20C=) | |
| 17 | g.78871026G>T | CA2640201706 | CEP295NL,TIMP2 | c.1-20C>A (n.1-20C>A) c.232-20C>A (n.232-20C>A) | gnomAD v4 |
| 17 | g.78871027A>G | CA2640201707 | CEP295NL,TIMP2 | c.1-21T>C (n.1-21T>C) c.232-21T>C (n.232-21T>C) | gnomAD v4 |
| 17 | g.78871028C>A | CA2277198204 | CEP295NL,TIMP2 | c.1-22G>T (n.1-22G>T) c.232-22G>T (n.232-22G>T) | dbSNP gnomAD v4 |
| 17 | g.78871028C= | CA2277198203 | CEP295NL,TIMP2 | c.1-22G= (n.1-22G=) c.232-22G= (n.232-22G=) | |
| 17 | g.78871029A= | CA2277198205 | CEP295NL,TIMP2 | c.1-23T= (n.1-23T=) c.232-23T= (n.232-23T=) | |
| 17 | g.78871029A>G | CA2277198206 | CEP295NL,TIMP2 | c.1-23T>C (n.1-23T>C) c.232-23T>C (n.232-23T>C) | dbSNP |
| 17 | g.78871030T>C | CA8807724 | CEP295NL,TIMP2 | c.1-24A>G (n.1-24A>G) c.232-24A>G (n.232-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871030T= | CA2277198207 | CEP295NL,TIMP2 | c.1-24A= (n.1-24A=) c.232-24A= (n.232-24A=) | |
| 17 | g.78871031G>A | CA8807725 | CEP295NL,TIMP2 | c.1-25C>T (n.1-25C>T) c.232-25C>T (n.232-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871031G>C | CA2581331568 | CEP295NL,TIMP2 | c.1-25C>G (n.1-25C>G) c.232-25C>G (n.232-25C>G) | |
| 17 | g.78871031G= | CA2277198208 | CEP295NL,TIMP2 | c.1-25C= (n.1-25C=) c.232-25C= (n.232-25C=) | |
| 17 | g.78871031G>T | CA2581331569 | CEP295NL,TIMP2 | c.1-25C>A (n.1-25C>A) c.232-25C>A (n.232-25C>A) | |
| 17 | g.78871032T>A | CA2640201709 | CEP295NL,TIMP2 | c.1-26A>T (n.1-26A>T) c.232-26A>T (n.232-26A>T) | gnomAD v4 |
| 17 | g.78871032T>G | CA2640201710 | CEP295NL,TIMP2 | c.1-26A>C (n.1-26A>C) c.232-26A>C (n.232-26A>C) | gnomAD v4 |
| 17 | g.78871034A= | CA2277198209 | CEP295NL,TIMP2 | c.1-28T= (n.1-28T=) c.232-28T= (n.232-28T=) | |
| 17 | g.78871034A>G | CA627660209 | CEP295NL,TIMP2 | c.1-28T>C (n.1-28T>C) c.232-28T>C (n.232-28T>C) | dbSNP gnomAD v2 |
| 17 | g.78871035G>A | CA627660210 | CEP295NL,TIMP2 | c.1-29C>T (n.1-29C>T) c.232-29C>T (n.232-29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871035G= | CA2277198210 | CEP295NL,TIMP2 | c.1-29C= (n.1-29C=) c.232-29C= (n.232-29C=) | |
| 17 | g.78871035G>T | CA2640201711 | CEP295NL,TIMP2 | c.1-29C>A (n.1-29C>A) c.232-29C>A (n.232-29C>A) | gnomAD v4 |
| 17 | g.78871036C= | CA2277198211 | CEP295NL,TIMP2 | c.1-30G= (n.1-30G=) c.232-30G= (n.232-30G=) | |
| 17 | g.78871036C>T | CA2277198212 | CEP295NL,TIMP2 | c.1-30G>A (n.1-30G>A) c.232-30G>A (n.232-30G>A) | dbSNP gnomAD v4 |
| 17 | g.78871039A>C | CA2640201712 | CEP295NL,TIMP2 | c.1-33T>G (n.1-33T>G) c.232-33T>G (n.232-33T>G) | gnomAD v4 |
| 17 | g.78871039_78871040insAGT | CA2514642732 | CEP295NL,TIMP2 | c.1-34_1-33insACT (n.1-34_1-33insACT) c.232-34_232-33insACT (n.232-34_232-33insACT) | |
| 17 | g.78871040G>A | CA627660211 | CEP295NL,TIMP2 | c.1-34C>T (n.1-34C>T) c.232-34C>T (n.232-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871040G>C | CA2576410265 | CEP295NL,TIMP2 | c.1-34C>G (n.1-34C>G) c.232-34C>G (n.232-34C>G) | gnomAD v4 |
| 17 | g.78871040G= | CA2277198213 | CEP295NL,TIMP2 | c.1-34C= (n.1-34C=) c.232-34C= (n.232-34C=) | |
| 17 | g.78871041G>A | CA294435386 | CEP295NL,TIMP2 | c.1-35C>T (n.1-35C>T) c.232-35C>T (n.232-35C>T) | dbSNP gnomAD v4 |
| 17 | g.78871041G= | CA2277198214 | CEP295NL,TIMP2 | c.1-35C= (n.1-35C=) c.232-35C= (n.232-35C=) | |
| 17 | g.78871043_78871044del | CA2553238464 | CEP295NL,TIMP2 | c.1-37_1-36del (n.1-37_1-36del) c.232-37_232-36del (n.232-37_232-36del) | |
| 17 | g.78871043A= | CA2277198215 | CEP295NL,TIMP2 | c.1-37T= (n.1-37T=) c.232-37T= (n.232-37T=) | |
| 17 | g.78871043A>C | CA627660212 | CEP295NL,TIMP2 | c.1-37T>G (n.1-37T>G) c.232-37T>G (n.232-37T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78871043A>G | CA2640201713 | CEP295NL,TIMP2 | c.1-37T>C (n.1-37T>C) c.232-37T>C (n.232-37T>C) | gnomAD v4 |
| 17 | g.78871045G= | CA2277198216 | CEP295NL,TIMP2 | c.1-39C= (n.1-39C=) c.232-39C= (n.232-39C=) | |
| 17 | g.78871045G>T | CA294435387 | CEP295NL,TIMP2 | c.1-39C>A (n.1-39C>A) c.232-39C>A (n.232-39C>A) | dbSNP gnomAD v4 |
| 17 | g.78871046C>A | CA2576410266 | CEP295NL,TIMP2 | c.1-40G>T (n.1-40G>T) c.232-40G>T (n.232-40G>T) | gnomAD v4 |
| 17 | g.78871046C= | CA2277198217 | CEP295NL,TIMP2 | c.1-40G= (n.1-40G=) c.232-40G= (n.232-40G=) | |
| 17 | g.78871046C>T | CA8807726 | CEP295NL,TIMP2 | c.1-40G>A (n.1-40G>A) c.232-40G>A (n.232-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78871047C= | CA2277198218 | CEP295NL,TIMP2 | c.1-41G= (n.1-41G=) c.232-41G= (n.232-41G=) | |
| 17 | g.78871047C>T | CA2277198219 | CEP295NL,TIMP2 | c.1-41G>A (n.1-41G>A) c.232-41G>A (n.232-41G>A) | dbSNP |
| 17 | g.78871051_78871052del | CA2640201714 | CEP295NL,TIMP2 | c.1-42_1-41del (n.1-42_1-41del) c.232-42_232-41del (n.232-42_232-41del) | gnomAD v4 |
| 17 | g.78871049C>T | CA2640201715 | CEP295NL,TIMP2 | c.1-43G>A (n.1-43G>A) c.232-43G>A (n.232-43G>A) | gnomAD v4 |