| 3 | g.129532268_129532358dup | CA915941573 | RHO | c.548_638dup (p.Ile214AlafsTer?)
| ClinVar dbSNP |
| 3 | g.129532347G>A | CA435768984 | RHO | c.627G>A (p.Val209=)
| |
| 3 | g.129532347G>C | CA435768985 | RHO | c.627G>C (p.Val209=)
| |
| 3 | g.129532347G= | CA1401211213 | RHO | c.627G= (p.Val209=)
| |
| 3 | g.129532347G>T | CA435768986 | RHO | c.627G>T (p.Val209=)
| dbSNP gnomAD v2 |
| 3 | g.129532348G>A | CA2607226 | RHO | c.628G>A (p.Val210Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532348G>C | CA354469881 | RHO | c.628G>C (p.Val210Leu)
| |
| 3 | g.129532348G= | CA1401211218 | RHO | c.628G= (p.Val210=)
| |
| 3 | g.129532348G>T | CA2607225 | RHO | c.628G>T (p.Val210Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532349T>A | CA354469883 | RHO | c.629T>A (p.Val210Asp)
| |
| 3 | g.129532349T>C | CA354469884 | RHO | c.629T>C (p.Val210Ala)
| |
| 3 | g.129532349T>G | CA354469886 | RHO | c.629T>G (p.Val210Gly)
| |
| 3 | g.129532350C>A | CA435768992 | RHO | c.630C>A (p.Val210=)
| |
| 3 | g.129532350C= | CA1401211223 | RHO | c.630C= (p.Val210=)
| |
| 3 | g.129532350C>G | CA435768994 | RHO | c.630C>G (p.Val210=)
| gnomAD v4 |
| 3 | g.129532350C>T | CA2607227 | RHO | c.630C>T (p.Val210=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532351C>A | CA354469888 | RHO | c.631C>A (p.His211Asn)
| |
| 3 | g.129532351C= | CA1401211228 | RHO | c.631C= (p.His211=)
| |
| 3 | g.129532351C>G | CA354469890 | RHO | c.631C>G (p.His211Asp)
| |
| 3 | g.129532351C>T | CA354469892 | RHO | c.631C>T (p.His211Tyr)
| ClinVar dbSNP |
| 3 | g.129532352A= | CA1401211236 | RHO | c.632A= (p.His211=)
| |
| 3 | g.129532352A>C | CA256674 | RHO | c.632A>C (p.His211Pro)
| ClinVar dbSNP |
| 3 | g.129532352A>G | CA354469894 | RHO | c.632A>G (p.His211Arg)
| ClinVar dbSNP |
| 3 | g.129532352A>T | CA354469895 | RHO | c.632A>T (p.His211Leu)
| |
| 3 | g.129532353C>A | CA354469897 | RHO | c.633C>A (p.His211Gln)
| |
| 3 | g.129532353C= | CA1401211242 | RHO | c.633C= (p.His211=)
| |
| 3 | g.129532353C>G | CA354469899 | RHO | c.633C>G (p.His211Gln)
| |
| 3 | g.129532353C>T | CA2607228 | RHO | c.633C>T (p.His211=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532354T>A | CA354469902 | RHO | c.634T>A (p.Phe212Ile)
| |
| 3 | g.129532354T>C | CA354469904 | RHO | c.634T>C (p.Phe212Leu)
| |
| 3 | g.129532354T>G | CA354469901 | RHO | c.634T>G (p.Phe212Val)
| |
| 3 | g.129532355T>A | CA354469906 | RHO | c.635T>A (p.Phe212Tyr)
| |
| 3 | g.129532355T>C | CA354469907 | RHO | c.635T>C (p.Phe212Ser)
| |
| 3 | g.129532355T>G | CA354469909 | RHO | c.635T>G (p.Phe212Cys)
| |
| 3 | g.129532356C>A | CA354469911 | RHO | c.636C>A (p.Phe212Leu)
| |
| 3 | g.129532356C>G | CA354469913 | RHO | c.636C>G (p.Phe212Leu)
| |
| 3 | g.129532356C>T | CA435768998 | RHO | c.636C>T (p.Phe212=)
| |
| 3 | g.129532357A>C | CA354469914 | RHO | c.637A>C (p.Thr213Pro)
| |
| 3 | g.129532357A>G | CA354469916 | RHO | c.637A>G (p.Thr213Ala)
| |
| 3 | g.129532357A>T | CA354469918 | RHO | c.637A>T (p.Thr213Ser)
| |
| 3 | g.129532358C>A | CA354469920 | RHO | c.638C>A (p.Thr213Asn)
| dbSNP |
| 3 | g.129532358C= | CA1401211246 | RHO | c.638C= (p.Thr213=)
| |
| 3 | g.129532358C>G | CA354469921 | RHO | c.638C>G (p.Thr213Ser)
| |
| 3 | g.129532358C>T | CA354469923 | RHO | c.638C>T (p.Thr213Ile)
| dbSNP |
| 3 | g.129532359C>A | CA435769003 | RHO | c.639C>A (p.Thr213=)
| |
| 3 | g.129532359C= | CA1401211249 | RHO | c.639C= (p.Thr213=)
| |
| 3 | g.129532359C>G | CA82620540 | RHO | c.639C>G (p.Thr213=)
| dbSNP |
| 3 | g.129532359C>T | CA435769004 | RHO | c.639C>T (p.Thr213=)
| COSMIC |
| 3 | g.129532360A= | CA1401211251 | RHO | c.640A= (p.Ile214=)
| |
| 3 | g.129532360A>C | CA354469925 | RHO | c.640A>C (p.Ile214Leu)
| |
| 3 | g.129532360A>G | CA82620545 | RHO | c.640A>G (p.Ile214Val)
| dbSNP |
| 3 | g.129532360A>T | CA354469926 | RHO | c.640A>T (p.Ile214Phe)
| |
| 3 | g.129532361T>A | CA354469932 | RHO | c.641T>A (p.Ile214Asn)
| ClinVar |
| 3 | g.129532361T>C | CA354469931 | RHO | c.641T>C (p.Ile214Thr)
| gnomAD v4 |
| 3 | g.129532361T>G | CA354469929 | RHO | c.641T>G (p.Ile214Ser)
| |
| 3 | g.129532361_129532362insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | CA2758361646 | RHO | c.641_642insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG (p.Ile214_Pro215insProHisGlnLeuSerAlaTrpHisSerProSer)
| |
| 3 | g.129532362C>A | CA2607229 | RHO | c.642C>A (p.Ile214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532362C= | CA1401211253 | RHO | c.642C= (p.Ile214=)
| |
| 3 | g.129532362C>G | CA354469934 | RHO | c.642C>G (p.Ile214Met)
| |
| 3 | g.129532362C>T | CA2607230 | RHO | c.642C>T (p.Ile214=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532363C>A | CA354469937 | RHO | c.643C>A (p.Pro215Thr)
| |
| 3 | g.129532363C>G | CA354469938 | RHO | c.643C>G (p.Pro215Ala)
| ClinVar dbSNP |
| 3 | g.129532363C>T | CA354469939 | RHO | c.643C>T (p.Pro215Ser)
| |
| 3 | g.129532364C>A | CA354469942 | RHO | c.644C>A (p.Pro215His)
| |
| 3 | g.129532364C= | CA1401211255 | RHO | c.644C= (p.Pro215=)
| |
| 3 | g.129532364C>G | CA354469943 | RHO | c.644C>G (p.Pro215Arg)
| |
| 3 | g.129532364C>T | CA354469945 | RHO | c.644C>T (p.Pro215Leu)
| ClinVar dbSNP |
| 3 | g.129532365C>A | CA435769005 | RHO | c.645C>A (p.Pro215=)
| gnomAD v4 |
| 3 | g.129532365C>G | CA435769006 | RHO | c.645C>G (p.Pro215=)
| gnomAD v4 |
| 3 | g.129532365C>T | CA435769007 | RHO | c.645C>T (p.Pro215=)
| dbSNP |
| 3 | g.129532365_129532366delinsCA | CA1401211258 | RHO | c.645_646delinsCA (p.Pro215=)
| |
| 3 | g.129532366del | CA2607231 | RHO | c.646del (p.Met216Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532366A= | CA1401211262 | RHO | c.646A= (p.Met216=)
| |
| 3 | g.129532366A>C | CA354469947 | RHO | c.646A>C (p.Met216Leu)
| |
| 3 | g.129532366A>G | CA354469949 | RHO | c.646A>G (p.Met216Val)
| |
| 3 | g.129532366A>T | CA354469950 | RHO | c.646A>T (p.Met216Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532367T>A | CA354469952 | RHO | c.647T>A (p.Met216Lys)
| ClinVar dbSNP |
| 3 | g.129532367T>C | CA354469955 | RHO | c.647T>C (p.Met216Thr)
| |
| 3 | g.129532367T>G | CA82620557 | RHO | c.647T>G (p.Met216Arg)
| ClinVar dbSNP |
| 3 | g.129532367T= | CA1401211267 | RHO | c.647T= (p.Met216=)
| |
| 3 | g.129532368G>A | CA354469956 | RHO | c.648G>A (p.Met216Ile)
| |
| 3 | g.129532368G>C | CA354469958 | RHO | c.648G>C (p.Met216Ile)
| |
| 3 | g.129532368G>T | CA354469957 | RHO | c.648G>T (p.Met216Ile)
| |
| 3 | g.129532369A= | CA1401211269 | RHO | c.649A= (p.Ile217=)
| |
| 3 | g.129532369A>C | CA354469961 | RHO | c.649A>C (p.Ile217Leu)
| |
| 3 | g.129532369A>G | CA354469964 | RHO | c.649A>G (p.Ile217Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532369A>T | CA354469962 | RHO | c.649A>T (p.Ile217Phe)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.129532370T>A | CA354469965 | RHO | c.650T>A (p.Ile217Asn)
| |
| 3 | g.129532370T>C | CA354469970 | RHO | c.650T>C (p.Ile217Thr)
| |
| 3 | g.129532370T>G | CA354469968 | RHO | c.650T>G (p.Ile217Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532370T= | CA1401211272 | RHO | c.650T= (p.Ile217=)
| |
| 3 | g.129532372_129532379dup | CA2667616977 | RHO | c.652_659dup (p.Phe220LeufsTer?)
| gnomAD v4 |
| 3 | g.129532371T>A | CA435769008 | RHO | c.651T>A (p.Ile217=)
| |
| 3 | g.129532371T>C | CA435769009 | RHO | c.651T>C (p.Ile217=)
| dbSNP gnomAD v4 |
| 3 | g.129532371T>G | CA354469971 | RHO | c.651T>G (p.Ile217Met)
| |
| 3 | g.129532371T= | CA1401211274 | RHO | c.651T= (p.Ile217=)
| |
| 3 | g.129532372A>C | CA354469973 | RHO | c.652A>C (p.Ile218Leu)
| |
| 3 | g.129532372A>G | CA354469975 | RHO | c.652A>G (p.Ile218Val)
| dbSNP |
| 3 | g.129532372A>T | CA354469976 | RHO | c.652A>T (p.Ile218Phe)
| |
| 3 | g.129532373T>A | CA354469978 | RHO | c.653T>A (p.Ile218Asn)
| |
| 3 | g.129532373T>C | CA354469980 | RHO | c.653T>C (p.Ile218Thr)
| gnomAD v4 |
| 3 | g.129532373T>G | CA354469981 | RHO | c.653T>G (p.Ile218Ser)
| |
| 3 | g.129532374C>A | CA435769010 | RHO | c.654C>A (p.Ile218=)
| |
| 3 | g.129532374C>G | CA354469983 | RHO | c.654C>G (p.Ile218Met)
| |
| 3 | g.129532374C>T | CA435769011 | RHO | c.654C>T (p.Ile218=)
| |
| 3 | g.129532375A>C | CA354469984 | RHO | c.655A>C (p.Ile219Leu)
| |
| 3 | g.129532375A>G | CA354469986 | RHO | c.655A>G (p.Ile219Val)
| |
| 3 | g.129532375A>T | CA354469988 | RHO | c.655A>T (p.Ile219Phe)
| |
| 3 | g.129532376T>A | CA354469990 | RHO | c.656T>A (p.Ile219Asn)
| |
| 3 | g.129532376T>C | CA354469993 | RHO | c.656T>C (p.Ile219Thr)
| gnomAD v4 |
| 3 | g.129532376T>G | CA354469992 | RHO | c.656T>G (p.Ile219Ser)
| |
| 3 | g.129532377C>A | CA435769012 | RHO | c.657C>A (p.Ile219=)
| COSMIC |
| 3 | g.129532377C>G | CA354469995 | RHO | c.657C>G (p.Ile219Met)
| |
| 3 | g.129532377C>T | CA435769013 | RHO | c.657C>T (p.Ile219=)
| |
| 3 | g.129532378T>A | CA354469996 | RHO | c.658T>A (p.Phe220Ile)
| |
| 3 | g.129532378T>C | CA354469998 | RHO | c.658T>C (p.Phe220Leu)
| |
| 3 | g.129532378T>G | CA354470000 | RHO | c.658T>G (p.Phe220Val)
| |
| 3 | g.129532379T>A | CA354470001 | RHO | c.659T>A (p.Phe220Tyr)
| |
| 3 | g.129532379T>C | CA354470002 | RHO | c.659T>C (p.Phe220Ser)
| |
| 3 | g.129532379T>G | CA2607232 | RHO | c.659T>G (p.Phe220Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532379T= | CA1401211276 | RHO | c.659T= (p.Phe220=)
| |
| 3 | g.129532380T>A | CA354470004 | RHO | c.660T>A (p.Phe220Leu)
| |
| 3 | g.129532380T>C | CA435769014 | RHO | c.660T>C (p.Phe220=)
| dbSNP |
| 3 | g.129532380T>G | CA2607233 | RHO | c.660T>G (p.Phe220Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532380T= | CA1401211278 | RHO | c.660T= (p.Phe220=)
| |
| 3 | g.129532381T>A | CA354470008 | RHO | c.661T>A (p.Phe221Ile)
| gnomAD v4 |
| 3 | g.129532381T>C | CA354470009 | RHO | c.661T>C (p.Phe221Leu)
| |
| 3 | g.129532381T>G | CA354470006 | RHO | c.661T>G (p.Phe221Val)
| |
| 3 | g.129532382T>A | CA354470010 | RHO | c.662T>A (p.Phe221Tyr)
| |
| 3 | g.129532382T>C | CA354470011 | RHO | c.662T>C (p.Phe221Ser)
| |
| 3 | g.129532382T>G | CA354470013 | RHO | c.662T>G (p.Phe221Cys)
| |
| 3 | g.129532383C>A | CA354470014 | RHO | c.663C>A (p.Phe221Leu)
| |
| 3 | g.129532383C>G | CA354470015 | RHO | c.663C>G (p.Phe221Leu)
| |
| 3 | g.129532383C>T | CA435769015 | RHO | c.663C>T (p.Phe221=)
| |
| 3 | g.129532384T>A | CA354470019 | RHO | c.664T>A (p.Cys222Ser)
| |
| 3 | g.129532384T>C | CA354470016 | RHO | c.664T>C (p.Cys222Arg)
| |
| 3 | g.129532384T>G | CA354470018 | RHO | c.664T>G (p.Cys222Gly)
| |
| 3 | g.129532385G>A | CA354470021 | RHO | c.665G>A (p.Cys222Tyr)
| |
| 3 | g.129532385G>C | CA354470023 | RHO | c.665G>C (p.Cys222Ser)
| |
| 3 | g.129532385G>T | CA354470024 | RHO | c.665G>T (p.Cys222Phe)
| |
| 3 | g.129532386C>A | CA354470026 | RHO | c.666C>A (p.Cys222Ter)
| |
| 3 | g.129532386C>G | CA354470028 | RHO | c.666C>G (p.Cys222Trp)
| |
| 3 | g.129532386C>T | CA435769016 | RHO | c.666C>T (p.Cys222=)
| |
| 3 | g.129532387T>A | CA354470030 | RHO | c.667T>A (p.Tyr223Asn)
| |
| 3 | g.129532387T>C | CA354470033 | RHO | c.667T>C (p.Tyr223His)
| |
| 3 | g.129532387T>G | CA354470031 | RHO | c.667T>G (p.Tyr223Asp)
| |
| 3 | g.129532388A>C | CA354470034 | RHO | c.668A>C (p.Tyr223Ser)
| |
| 3 | g.129532388A>G | CA354470036 | RHO | c.668A>G (p.Tyr223Cys)
| |
| 3 | g.129532388A>T | CA354470037 | RHO | c.668A>T (p.Tyr223Phe)
| |
| 3 | g.129532389T>A | CA354470038 | RHO | c.669T>A (p.Tyr223Ter)
| |
| 3 | g.129532389T>C | CA435769017 | RHO | c.669T>C (p.Tyr223=)
| gnomAD v4 |
| 3 | g.129532389T>G | CA354470039 | RHO | c.669T>G (p.Tyr223Ter)
| |
| 3 | g.129532390G>A | CA354470040 | RHO | c.670G>A (p.Gly224Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532390G>C | CA2607234 | RHO | c.670G>C (p.Gly224Arg)
| dbSNP ExAC gnomAD v2 COSMIC |
| 3 | g.129532390G= | CA1401211280 | RHO | c.670G= (p.Gly224=)
| |
| 3 | g.129532390G>T | CA354470042 | RHO | c.670G>T (p.Gly224Trp)
| |
| 3 | g.129532391G>A | CA2607235 | RHO | c.671G>A (p.Gly224Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532391G>C | CA354470044 | RHO | c.671G>C (p.Gly224Ala)
| |
| 3 | g.129532391G= | CA1401211282 | RHO | c.671G= (p.Gly224=)
| |
| 3 | g.129532391G>T | CA354470045 | RHO | c.671G>T (p.Gly224Val)
| |
| 3 | g.129532392G>A | CA435769018 | RHO | c.672G>A (p.Gly224=)
| |
| 3 | g.129532392G>C | CA435769019 | RHO | c.672G>C (p.Gly224=)
| |
| 3 | g.129532392G>T | CA435769020 | RHO | c.672G>T (p.Gly224=)
| |
| 3 | g.129532393C>A | CA354470050 | RHO | c.673C>A (p.Gln225Lys)
| gnomAD v4 |
| 3 | g.129532393C= | CA1401211285 | RHO | c.673C= (p.Gln225=)
| |
| 3 | g.129532393C>G | CA354470048 | RHO | c.673C>G (p.Gln225Glu)
| |
| 3 | g.129532393C>T | CA2607236 | RHO | c.673C>T (p.Gln225Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532394A>C | CA354470051 | RHO | c.674A>C (p.Gln225Pro)
| |
| 3 | g.129532394A>G | CA354470053 | RHO | c.674A>G (p.Gln225Arg)
| |
| 3 | g.129532394A>T | CA354470054 | RHO | c.674A>T (p.Gln225Leu)
| |
| 3 | g.129532395G>A | CA435769021 | RHO | c.675G>A (p.Gln225=)
| gnomAD v4 |
| 3 | g.129532395G>C | CA354470055 | RHO | c.675G>C (p.Gln225His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532395G= | CA1401211288 | RHO | c.675G= (p.Gln225=)
| |
| 3 | g.129532395G>T | CA354470056 | RHO | c.675G>T (p.Gln225His)
| |
| 3 | g.129532396C>A | CA354470057 | RHO | c.676C>A (p.Leu226Ile)
| |
| 3 | g.129532396C>G | CA354470059 | RHO | c.676C>G (p.Leu226Val)
| |
| 3 | g.129532396C>T | CA354470060 | RHO | c.676C>T (p.Leu226Phe)
| |
| 3 | g.129532397T>A | CA354470062 | RHO | c.677T>A (p.Leu226His)
| |
| 3 | g.129532397T>C | CA354470065 | RHO | c.677T>C (p.Leu226Pro)
| ClinVar dbSNP |
| 3 | g.129532397T>G | CA354470064 | RHO | c.677T>G (p.Leu226Arg)
| |
| 3 | g.129532397T= | CA1401211290 | RHO | c.677T= (p.Leu226=)
| |
| 3 | g.129532398C>A | CA435769022 | RHO | c.678C>A (p.Leu226=)
| |
| 3 | g.129532398C= | CA1401211293 | RHO | c.678C= (p.Leu226=)
| |
| 3 | g.129532398C>G | CA82620581 | RHO | c.678C>G (p.Leu226=)
| dbSNP |
| 3 | g.129532398C>T | CA2607237 | RHO | c.678C>T (p.Leu226=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129532399G>A | CA2607238 | RHO | c.679G>A (p.Val227Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532399G>C | CA354470069 | RHO | c.679G>C (p.Val227Leu)
| |
| 3 | g.129532399G= | CA1401211296 | RHO | c.679G= (p.Val227=)
| |
| 3 | g.129532399G>T | CA354470070 | RHO | c.679G>T (p.Val227Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532400T>A | CA354470072 | RHO | c.680T>A (p.Val227Asp)
| |
| 3 | g.129532400T>C | CA354470075 | RHO | c.680T>C (p.Val227Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532400T>G | CA354470074 | RHO | c.680T>G (p.Val227Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532400T= | CA1401211298 | RHO | c.680T= (p.Val227=)
| |
| 3 | g.129532401C>A | CA435769023 | RHO | c.681C>A (p.Val227=)
| |
| 3 | g.129532401C>G | CA435769024 | RHO | c.681C>G (p.Val227=)
| |
| 3 | g.129532401C>T | CA435769025 | RHO | c.681C>T (p.Val227=)
| ClinVar gnomAD v4 |
| 3 | g.129532402T>A | CA354470077 | RHO | c.682T>A (p.Phe228Ile)
| |
| 3 | g.129532402T>C | CA354470079 | RHO | c.682T>C (p.Phe228Leu)
| |
| 3 | g.129532402T>G | CA354470080 | RHO | c.682T>G (p.Phe228Val)
| |
| 3 | g.129532403T>A | CA354470082 | RHO | c.683T>A (p.Phe228Tyr)
| |
| 3 | g.129532403T>C | CA354470083 | RHO | c.683T>C (p.Phe228Ser)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.129532403T>G | CA354470085 | RHO | c.683T>G (p.Phe228Cys)
| gnomAD v4 |
| 3 | g.129532403T= | CA1401211300 | RHO | c.683T= (p.Phe228=)
| |
| 3 | g.129532404C>A | CA354470087 | RHO | c.684C>A (p.Phe228Leu)
| |
| 3 | g.129532404C= | CA1401211302 | RHO | c.684C= (p.Phe228=)
| |
| 3 | g.129532404C>G | CA354470089 | RHO | c.684C>G (p.Phe228Leu)
| |
| 3 | g.129532404C>T | CA435769026 | RHO | c.684C>T (p.Phe228=)
| dbSNP |
| 3 | g.129532405A>C | CA354470090 | RHO | c.685A>C (p.Thr229Pro)
| |
| 3 | g.129532405A>G | CA354470093 | RHO | c.685A>G (p.Thr229Ala)
| |
| 3 | g.129532405A>T | CA354470094 | RHO | c.685A>T (p.Thr229Ser)
| |
| 3 | g.129532406C>A | CA354470095 | RHO | c.686C>A (p.Thr229Asn)
| |
| 3 | g.129532406C>G | CA354470098 | RHO | c.686C>G (p.Thr229Ser)
| |
| 3 | g.129532406C>T | CA354470097 | RHO | c.686C>T (p.Thr229Ile)
| gnomAD v4 |
| 3 | g.129532407C>A | CA2607240 | RHO | c.687C>A (p.Thr229=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532407C= | CA1401211305 | RHO | c.687C= (p.Thr229=)
| |
| 3 | g.129532407C>G | CA435769027 | RHO | c.687C>G (p.Thr229=)
| |
| 3 | g.129532407C>T | CA2607239 | RHO | c.687C>T (p.Thr229=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532407_129532408insACA | CA2758361657 | RHO | c.687_688insACA (p.Thr229_Val230insThr)
| |
| 3 | g.129532408G>A | CA2607241 | RHO | c.688G>A (p.Val230Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532408G>C | CA354470102 | RHO | c.688G>C (p.Val230Leu)
| gnomAD v4 |
| 3 | g.129532408G= | CA1401211308 | RHO | c.688G= (p.Val230=)
| |
| 3 | g.129532408G>T | CA354470103 | RHO | c.688G>T (p.Val230Phe)
| |
| 3 | g.129532409T>A | CA354470105 | RHO | c.689T>A (p.Val230Asp)
| |
| 3 | g.129532409T>C | CA354470106 | RHO | c.689T>C (p.Val230Ala)
| |
| 3 | g.129532409T>G | CA354470107 | RHO | c.689T>G (p.Val230Gly)
| |
| 3 | g.129532410C>A | CA435769028 | RHO | c.690C>A (p.Val230=)
| |
| 3 | g.129532410C>G | CA435769029 | RHO | c.690C>G (p.Val230=)
| |
| 3 | g.129532410C>T | CA435769030 | RHO | c.690C>T (p.Val230=)
| gnomAD v4 |
| 3 | g.129532411A>C | CA354470109 | RHO | c.691A>C (p.Lys231Gln)
| |
| 3 | g.129532411A>G | CA354470111 | RHO | c.691A>G (p.Lys231Glu)
| |
| 3 | g.129532411A>T | CA354470113 | RHO | c.691A>T (p.Lys231Ter)
| |
| 3 | g.129532412A>C | CA354470117 | RHO | c.692A>C (p.Lys231Thr)
| |
| 3 | g.129532412A>G | CA354470115 | RHO | c.692A>G (p.Lys231Arg)
| |
| 3 | g.129532412A>T | CA354470114 | RHO | c.692A>T (p.Lys231Met)
| |
| 3 | g.129532413G>A | CA435769031 | RHO | c.693G>A (p.Lys231=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.129532413G>C | CA354470119 | RHO | c.693G>C (p.Lys231Asn)
| |
| 3 | g.129532413G= | CA1401211310 | RHO | c.693G= (p.Lys231=)
| |
| 3 | g.129532413G>T | CA354470121 | RHO | c.693G>T (p.Lys231Asn)
| |
| 3 | g.129532414G>A | CA354470122 | RHO | c.694G>A (p.Glu232Lys)
| dbSNP |
| 3 | g.129532414G>C | CA354470124 | RHO | c.694G>C (p.Glu232Gln)
| |
| 3 | g.129532414G>T | CA354470125 | RHO | c.694G>T (p.Glu232Ter)
| |
| 3 | g.129532415A>C | CA354470127 | RHO | c.695A>C (p.Glu232Ala)
| |
| 3 | g.129532415A>G | CA354470128 | RHO | c.695A>G (p.Glu232Gly)
| |
| 3 | g.129532415A>T | CA354470129 | RHO | c.695A>T (p.Glu232Val)
| |
| 3 | g.129532418_129532533del | CA2758361659 | RHO | c.696+2_697del
| |
| 3 | g.129532416G>A | CA435769032 | RHO | c.696G>A (p.Glu232=)
| gnomAD v4 |
| 3 | g.129532416G>C | CA354470131 | RHO | c.696G>C (p.Glu232Asp)
| |
| 3 | g.129532416G>T | CA354470132 | RHO | c.696G>T (p.Glu232Asp)
| |
| 3 | g.129532417del | CA2667617005 | RHO | c.696+1del
| gnomAD v4 |
| 3 | g.129532417G>A | CA354470134 | RHO | c.696+1G>A (n.696+1G>A)
| gnomAD v4 |
| 3 | g.129532417G>C | CA2607242 | RHO | c.696+1G>C (n.696+1G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532417G= | CA1401211313 | RHO | c.696+1G= (n.696+1G=)
| |
| 3 | g.129532417G>T | CA354470135 | RHO | c.696+1G>T (n.696+1G>T)
| |
| 3 | g.129532418T>A | CA354470141 | RHO | c.696+2T>A (n.696+2T>A)
| |
| 3 | g.129532418T>C | CA354470143 | RHO | c.696+2T>C (n.696+2T>C)
| |
| 3 | g.129532418T>G | CA354470137 | RHO | c.696+2T>G (n.696+2T>G)
| |
| 3 | g.129532418_129532419del | CA2704002939 | RHO | c.696+2_696+3del (n.696+2_696+3del)
| dbSNP |
| 3 | g.129532419A= | CA1401211315 | RHO | c.696+3A= (n.696+3A=)
| |
| 3 | g.129532419A>T | CA1401211316 | RHO | c.696+3A>T (n.696+3A>T)
| dbSNP gnomAD v4 |
| 3 | g.129532420C>A | CA2581897360 | RHO | c.696+4C>A (n.696+4C>A)
| |
| 3 | g.129532420C= | CA1401211318 | RHO | c.696+4C= (n.696+4C=)
| |
| 3 | g.129532420C>G | CA898753458 | RHO | c.696+4C>G (n.696+4C>G)
| dbSNP |
| 3 | g.129532420C>T | CA2607243 | RHO | c.696+4C>T (n.696+4C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532421G>A | CA2607245 | RHO | c.696+5G>A (n.696+5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532421G>C | CA2607244 | RHO | c.696+5G>C (n.696+5G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532421G= | CA1401211321 | RHO | c.696+5G= (n.696+5G=)
| |
| 3 | g.129532421_129532422insTT | CA2758361667 | RHO | c.696+5_696+6insTT (n.696+5_696+6insTT)
| |
| 3 | g.129532422G>A | CA546417824 | RHO | c.696+6G>A (n.696+6G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532422G= | CA1401211328 | RHO | c.696+6G= (n.696+6G=)
| |
| 3 | g.129532422G>T | CA2667617014 | RHO | c.696+6G>T (n.696+6G>T)
| gnomAD v4 |
| 3 | g.129532423G>A | CA898753465 | RHO | c.696+7G>A (n.696+7G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532423G= | CA1401211330 | RHO | c.696+7G= (n.696+7G=)
| |
| 3 | g.129532423G>T | CA2499216484 | RHO | c.696+7G>T (n.696+7G>T)
| ClinVar dbSNP |
| 3 | g.129532425C>A | CA2607246 | RHO | c.696+9C>A (n.696+9C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532425C= | CA1401211337 | RHO | c.696+9C= (n.696+9C=)
| |
| 3 | g.129532425C>G | CA546417825 | RHO | c.696+9C>G (n.696+9C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532425C>T | CA2607247 | RHO | c.696+9C>T (n.696+9C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532425_129532426delinsCG | CA1401211342 | RHO | c.696+9_696+10delinsCG (n.696+9_696+10delinsCG)
| |
| 3 | g.129532426G>A | CA2607251 | RHO | c.696+10G>A (n.696+10G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532426G>C | CA2607249 | RHO | c.696+10G>C (n.696+10G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532426G= | CA1401211349 | RHO | c.696+10G= (n.696+10G=)
| |
| 3 | g.129532426G>T | CA2607250 | RHO | c.696+10G>T (n.696+10G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532431dup | CA2573136496 | RHO | c.696+15dup (n.696+15dup)
| ClinVar dbSNP |
| 3 | g.129532431del | CA2607248 | RHO | c.696+15del (n.696+15del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532427G>C | CA1401211355 | RHO | c.696+11G>C (n.696+11G>C)
| dbSNP |
| 3 | g.129532427G= | CA1401211354 | RHO | c.696+11G= (n.696+11G=)
| |
| 3 | g.129532427G>T | CA2667617037 | RHO | c.696+11G>T (n.696+11G>T)
| gnomAD v4 |
| 3 | g.129532428G>A | CA2607252 | RHO | c.696+12G>A (n.696+12G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532428G>C | CA2607253 | RHO | c.696+12G>C (n.696+12G>C)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129532428G= | CA1401211361 | RHO | c.696+12G= (n.696+12G=)
| |
| 3 | g.129532428G>T | CA82620650 | RHO | c.696+12G>T (n.696+12G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532429G>A | CA2607254 | RHO | c.696+13G>A (n.696+13G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532429G>C | CA2667617047 | RHO | c.696+13G>C (n.696+13G>C)
| gnomAD v4 |
| 3 | g.129532429G= | CA1401211367 | RHO | c.696+13G= (n.696+13G=)
| |
| 3 | g.129532430G>A | CA2550469928 | RHO | c.696+14G>A (n.696+14G>A)
| gnomAD v4 |
| 3 | g.129532430G>C | CA82620660 | RHO | c.696+14G>C (n.696+14G>C)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.129532430G= | CA1401211372 | RHO | c.696+14G= (n.696+14G=)
| |
| 3 | g.129532430G>T | CA2607255 | RHO | c.696+14G>T (n.696+14G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532431G>A | CA546417826 | RHO | c.696+15G>A (n.696+15G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532431G>C | CA2667617058 | RHO | c.696+15G>C (n.696+15G>C)
| gnomAD v4 |
| 3 | g.129532431G= | CA1401211378 | RHO | c.696+15G= (n.696+15G=)
| |
| 3 | g.129532431G>T | CA2577961792 | RHO | c.696+15G>T (n.696+15G>T)
| gnomAD v4 |
| 3 | g.129532432T>C | CA2667617059 | RHO | c.696+16T>C (n.696+16T>C)
| gnomAD v4 |
| 3 | g.129532432T>G | CA1053436477 | RHO | c.696+16T>G (n.696+16T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532433G>A | CA82620667 | RHO | c.696+17G>A (n.696+17G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532433G= | CA1401211381 | RHO | c.696+17G= (n.696+17G=)
| |
| 3 | g.129532435G>A | CA2607256 | RHO | c.696+19G>A (n.696+19G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129532435G= | CA1401211383 | RHO | c.696+19G= (n.696+19G=)
| |
| 3 | g.129532436C>A | CA2667617068 | RHO | c.696+20C>A (n.696+20C>A)
| gnomAD v4 |
| 3 | g.129532436C= | CA1401211387 | RHO | c.696+20C= (n.696+20C=)
| |
| 3 | g.129532436C>T | CA2607257 | RHO | c.696+20C>T (n.696+20C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532437G>A | CA2607258 | RHO | c.696+21G>A (n.696+21G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532437G= | CA1401211391 | RHO | c.696+21G= (n.696+21G=)
| |
| 3 | g.129532438G>A | CA648379674 | RHO | c.696+22G>A (n.696+22G>A)
| gnomAD v4 COSMIC |
| 3 | g.129532439C= | CA1401211395 | RHO | c.696+23C= (n.696+23C=)
| |
| 3 | g.129532439C>T | CA546417827 | RHO | c.696+23C>T (n.696+23C>T)
| dbSNP gnomAD v2 |
| 3 | g.129532440C= | CA1401211399 | RHO | c.696+24C= (n.696+24C=)
| |
| 3 | g.129532440C>G | CA546417828 | RHO | c.696+24C>G (n.696+24C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129532444C= | CA1401211402 | RHO | c.696+28C= (n.696+28C=)
| |
| 3 | g.129532444C>T | CA2607259 | RHO | c.696+28C>T (n.696+28C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.129532445G>A | CA2607260 | RHO | c.696+29G>A (n.696+29G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129532445G>C | CA2667617082 | RHO | c.696+29G>C (n.696+29G>C)
| gnomAD v4 |
| 3 | g.129532445G= | CA1401211405 | RHO | c.696+29G= (n.696+29G=)
| |
| 3 | g.129532446G>A | CA1053436481 | RHO | c.696+30G>A (n.696+30G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129532446G= | CA1401211407 | RHO | c.696+30G= (n.696+30G=)
| |
| 3 | g.129532446G>T | CA2667617083 | RHO | c.696+30G>T (n.696+30G>T)
| gnomAD v4 |
| 3 | g.129532447C= | CA1401211409 | RHO | c.696+31C= (n.696+31C=)
| |
| 3 | g.129532447C>T | CA1401211410 | RHO | c.696+31C>T (n.696+31C>T)
| dbSNP |
