Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.196995998A= | CA1217885145 | CFHR5 | c.536-24A= (n.536-24A=) n.860-24A= c.-24-116A= (n.-24-116A=) c.791-24A= (n.791-24A=) c.800-24A= (n.800-24A=) | |
1 | g.196995998A>C | CA645843893 | CFHR5 | c.536-24A>C (n.536-24A>C) n.860-24A>C c.-24-116A>C (n.-24-116A>C) c.791-24A>C (n.791-24A>C) c.800-24A>C (n.800-24A>C) | COSMIC |
1 | g.196995998A>G | CA1217885146 | CFHR5 | c.536-24A>G (n.536-24A>G) n.860-24A>G c.-24-116A>G (n.-24-116A>G) c.791-24A>G (n.791-24A>G) c.800-24A>G (n.800-24A>G) | dbSNP |
1 | g.196995999C= | CA1143820847 | CFHR5 | c.536-23C= (n.536-23C=) n.860-23C= c.-24-115C= (n.-24-115C=) c.791-23C= (n.791-23C=) c.800-23C= (n.800-23C=) | |
1 | g.196995999C>G | CA1307877 | CFHR5 | c.536-23C>G (n.536-23C>G) n.860-23C>G c.-24-115C>G (n.-24-115C>G) c.791-23C>G (n.791-23C>G) c.800-23C>G (n.800-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996000T>G | CA729718591 | CFHR5 | c.536-22T>G (n.536-22T>G) n.860-22T>G c.-24-114T>G (n.-24-114T>G) c.791-22T>G (n.791-22T>G) c.800-22T>G (n.800-22T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996000T= | CA1217885147 | CFHR5 | c.536-22T= (n.536-22T=) n.860-22T= c.-24-114T= (n.-24-114T=) c.791-22T= (n.791-22T=) c.800-22T= (n.800-22T=) | |
1 | g.196996002A= | CA1217885148 | CFHR5 | c.536-20A= (n.536-20A=) n.860-20A= c.-24-112A= (n.-24-112A=) c.791-20A= (n.791-20A=) c.800-20A= (n.800-20A=) | |
1 | g.196996002A>G | CA528534586 | CFHR5 | c.536-20A>G (n.536-20A>G) n.860-20A>G c.-24-112A>G (n.-24-112A>G) c.791-20A>G (n.791-20A>G) c.800-20A>G (n.800-20A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996003T>C | CA1217885150 | CFHR5 | c.536-19T>C (n.536-19T>C) n.860-19T>C c.-24-111T>C (n.-24-111T>C) c.791-19T>C (n.791-19T>C) c.800-19T>C (n.800-19T>C) | dbSNP |
1 | g.196996003T= | CA1217885149 | CFHR5 | c.536-19T= (n.536-19T=) n.860-19T= c.-24-111T= (n.-24-111T=) c.791-19T= (n.791-19T=) c.800-19T= (n.800-19T=) | |
1 | g.196996005T>C | CA2649656657 | CFHR5 | c.536-17T>C (n.536-17T>C) n.860-17T>C c.-24-109T>C (n.-24-109T>C) c.791-17T>C (n.791-17T>C) c.800-17T>C (n.800-17T>C) | gnomAD v4 |
1 | g.196996005T>G | CA2649656658 | CFHR5 | c.536-17T>G (n.536-17T>G) n.860-17T>G c.-24-109T>G (n.-24-109T>G) c.791-17T>G (n.791-17T>G) c.800-17T>G (n.800-17T>G) | gnomAD v4 |
1 | g.196996006T>C | CA1307878 | CFHR5 | c.536-16T>C (n.536-16T>C) n.860-16T>C c.-24-108T>C (n.-24-108T>C) c.791-16T>C (n.791-16T>C) c.800-16T>C (n.800-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996006T= | CA1217885151 | CFHR5 | c.536-16T= (n.536-16T=) n.860-16T= c.-24-108T= (n.-24-108T=) c.791-16T= (n.791-16T=) c.800-16T= (n.800-16T=) | |
1 | g.196996009T>C | CA2649656659 | CFHR5 | c.536-13T>C (n.536-13T>C) n.860-13T>C c.-24-105T>C (n.-24-105T>C) c.791-13T>C (n.791-13T>C) c.800-13T>C (n.800-13T>C) | gnomAD v4 |
1 | g.196996010A>C | CA2747237281 | CFHR5 | c.536-12A>C (n.536-12A>C) n.860-12A>C c.-24-104A>C (n.-24-104A>C) c.791-12A>C (n.791-12A>C) c.800-12A>C (n.800-12A>C) | |
1 | g.196996010A>G | CA2574104944 | CFHR5 | c.536-12A>G (n.536-12A>G) n.860-12A>G c.-24-104A>G (n.-24-104A>G) c.791-12A>G (n.791-12A>G) c.800-12A>G (n.800-12A>G) | |
1 | g.196996011C>A | CA2747237282 | CFHR5 | c.536-11C>A (n.536-11C>A) n.860-11C>A c.-24-103C>A (n.-24-103C>A) c.791-11C>A (n.791-11C>A) c.800-11C>A (n.800-11C>A) | |
1 | g.196996012A>C | CA2747237283 | CFHR5 | c.536-10A>C (n.536-10A>C) n.860-10A>C c.-24-102A>C (n.-24-102A>C) c.791-10A>C (n.791-10A>C) c.800-10A>C (n.800-10A>C) | |
1 | g.196996013T>C | CA2574104945 | CFHR5 | c.536-9T>C (n.536-9T>C) n.860-9T>C c.-24-101T>C (n.-24-101T>C) c.791-9T>C (n.791-9T>C) c.800-9T>C (n.800-9T>C) | |
1 | g.196996013T>G | CA2649656660 | CFHR5 | c.536-9T>G (n.536-9T>G) n.860-9T>G c.-24-101T>G (n.-24-101T>G) c.791-9T>G (n.791-9T>G) c.800-9T>G (n.800-9T>G) | gnomAD v4 |
1 | g.196996014T>A | CA1307879 | CFHR5 | c.536-8T>A (n.536-8T>A) n.860-8T>A c.-24-100T>A (n.-24-100T>A) c.791-8T>A (n.791-8T>A) c.800-8T>A (n.800-8T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996014T= | CA1143487345 | CFHR5 | c.536-8T= (n.536-8T=) n.860-8T= c.-24-100T= (n.-24-100T=) c.791-8T= (n.791-8T=) c.800-8T= (n.800-8T=) | |
1 | g.196996016T>C | CA1217885153 | CFHR5 | c.536-6T>C (n.536-6T>C) n.860-6T>C c.-24-98T>C (n.-24-98T>C) c.791-6T>C (n.791-6T>C) c.800-6T>C (n.800-6T>C) | dbSNP |
1 | g.196996016T= | CA1217885152 | CFHR5 | c.536-6T= (n.536-6T=) n.860-6T= c.-24-98T= (n.-24-98T=) c.791-6T= (n.791-6T=) c.800-6T= (n.800-6T=) | |
1 | g.196996018T>A | CA528534588 | CFHR5 | c.536-4T>A (n.536-4T>A) n.860-4T>A c.-24-96T>A (n.-24-96T>A) c.791-4T>A (n.791-4T>A) c.800-4T>A (n.800-4T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996018T>C | CA1307880 | CFHR5 | c.536-4T>C (n.536-4T>C) n.860-4T>C c.-24-96T>C (n.-24-96T>C) c.791-4T>C (n.791-4T>C) c.800-4T>C (n.800-4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996018T= | CA1148869341 | CFHR5 | c.536-4T= (n.536-4T=) n.860-4T= c.-24-96T= (n.-24-96T=) c.791-4T= (n.791-4T=) c.800-4T= (n.800-4T=) | |
1 | g.196996019T>C | CA2649656661 | CFHR5 | c.536-3T>C (n.536-3T>C) n.860-3T>C c.-24-95T>C (n.-24-95T>C) c.791-3T>C (n.791-3T>C) c.800-3T>C (n.800-3T>C) | gnomAD v4 |
1 | g.196996020A>C | CA344005300 | CFHR5 | c.536-2A>C (n.536-2A>C) n.860-2A>C c.-24-94A>C (n.-24-94A>C) c.791-2A>C (n.791-2A>C) c.800-2A>C (n.800-2A>C) | |
1 | g.196996020A>G | CA344005304 | CFHR5 | c.536-2A>G (n.536-2A>G) n.860-2A>G c.-24-94A>G (n.-24-94A>G) c.791-2A>G (n.791-2A>G) c.800-2A>G (n.800-2A>G) | gnomAD v4 |
1 | g.196996020A>T | CA344005302 | CFHR5 | c.536-2A>T (n.536-2A>T) n.860-2A>T c.-24-94A>T (n.-24-94A>T) c.791-2A>T (n.791-2A>T) c.800-2A>T (n.800-2A>T) | COSMIC COSMIC |
1 | g.196996021G>A | CA344005308 | CFHR5 | c.536-1G>A (n.536-1G>A) n.860-1G>A c.-24-93G>A (n.-24-93G>A) c.791-1G>A (n.791-1G>A) c.800-1G>A (n.800-1G>A) | COSMIC COSMIC |
1 | g.196996021G>C | CA344005311 | CFHR5 | c.536-1G>C (n.536-1G>C) n.860-1G>C c.-24-93G>C (n.-24-93G>C) c.791-1G>C (n.791-1G>C) c.800-1G>C (n.800-1G>C) | |
1 | g.196996021G>T | CA344005309 | CFHR5 | c.536-1G>T (n.536-1G>T) n.860-1G>T c.-24-93G>T (n.-24-93G>T) c.791-1G>T (n.791-1G>T) c.800-1G>T (n.800-1G>T) | |
1 | g.196996022A= | CA1217885154 | CFHR5 | c.536A= (p.Glu179=) n.860A= c.-24-92A= (n.-24-92A=) c.791A= (p.Glu264=) c.800A= (p.Glu267=) | |
1 | g.196996022A>C | CA344005313 | CFHR5 | c.536A>C (p.Glu179Ala) n.860A>C c.-24-92A>C (n.-24-92A>C) c.791A>C (p.Glu264Ala) c.800A>C (p.Glu267Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996022A>G | CA344005315 | CFHR5 | c.536A>G (p.Glu179Gly) n.860A>G c.-24-92A>G (n.-24-92A>G) c.791A>G (p.Glu264Gly) c.800A>G (p.Glu267Gly) | |
1 | g.196996022A>T | CA344005317 | CFHR5 | c.536A>T (p.Glu179Val) n.860A>T c.-24-92A>T (n.-24-92A>T) c.791A>T (p.Glu264Val) c.800A>T (p.Glu267Val) | |
1 | g.196996023A>C | CA344005319 | CFHR5 | c.537A>C (p.Glu179Asp) n.861A>C c.-24-91A>C (n.-24-91A>C) c.792A>C (p.Glu264Asp) c.801A>C (p.Glu267Asp) | |
1 | g.196996023A>G | CA422802805 | CFHR5 | c.537A>G (p.Glu179=) n.861A>G c.-24-91A>G (n.-24-91A>G) c.792A>G (p.Glu264=) c.801A>G (p.Glu267=) | |
1 | g.196996023A>T | CA344005322 | CFHR5 | c.537A>T (p.Glu179Asp) n.861A>T c.-24-91A>T (n.-24-91A>T) c.792A>T (p.Glu264Asp) c.801A>T (p.Glu267Asp) | |
1 | g.196996024C>A | CA344005325 | CFHR5 | c.538C>A (p.Gln180Lys) n.862C>A c.-24-90C>A (n.-24-90C>A) c.793C>A (p.Gln265Lys) c.802C>A (p.Gln268Lys) | |
1 | g.196996024C>G | CA344005328 | CFHR5 | c.538C>G (p.Gln180Glu) n.862C>G c.-24-90C>G (n.-24-90C>G) c.793C>G (p.Gln265Glu) c.802C>G (p.Gln268Glu) | |
1 | g.196996024C>T | CA344005330 | CFHR5 | c.538C>T (p.Gln180Ter) n.862C>T c.-24-90C>T (n.-24-90C>T) c.793C>T (p.Gln265Ter) c.802C>T (p.Gln268Ter) | |
1 | g.196996025A>C | CA344005332 | CFHR5 | c.539A>C (p.Gln180Pro) n.863A>C c.-24-89A>C (n.-24-89A>C) c.794A>C (p.Gln265Pro) c.803A>C (p.Gln268Pro) | gnomAD v4 |
1 | g.196996025A>G | CA344005333 | CFHR5 | c.539A>G (p.Gln180Arg) n.863A>G c.-24-89A>G (n.-24-89A>G) c.794A>G (p.Gln265Arg) c.803A>G (p.Gln268Arg) | |
1 | g.196996025A>T | CA344005334 | CFHR5 | c.539A>T (p.Gln180Leu) n.863A>T c.-24-89A>T (n.-24-89A>T) c.794A>T (p.Gln265Leu) c.803A>T (p.Gln268Leu) | |
1 | g.196996026A>C | CA344005340 | CFHR5 | c.540A>C (p.Gln180His) n.864A>C c.-24-88A>C (n.-24-88A>C) c.795A>C (p.Gln265His) c.804A>C (p.Gln268His) | |
1 | g.196996026A>G | CA422802809 | CFHR5 | c.540A>G (p.Gln180=) n.864A>G c.-24-88A>G (n.-24-88A>G) c.795A>G (p.Gln265=) c.804A>G (p.Gln268=) | |
1 | g.196996026A>T | CA344005337 | CFHR5 | c.540A>T (p.Gln180His) n.864A>T c.-24-88A>T (n.-24-88A>T) c.795A>T (p.Gln265His) c.804A>T (p.Gln268His) | |
1 | g.196996027G>A | CA344005342 | CFHR5 | c.541G>A (p.Val181Met) n.865G>A c.-24-87G>A (n.-24-87G>A) c.796G>A (p.Val266Met) c.805G>A (p.Val269Met) | ClinVar |
1 | g.196996027G>C | CA344005344 | CFHR5 | c.541G>C (p.Val181Leu) n.865G>C c.-24-87G>C (n.-24-87G>C) c.796G>C (p.Val266Leu) c.805G>C (p.Val269Leu) | |
1 | g.196996027G>T | CA344005345 | CFHR5 | c.541G>T (p.Val181Leu) n.865G>T c.-24-87G>T (n.-24-87G>T) c.796G>T (p.Val266Leu) c.805G>T (p.Val269Leu) | |
1 | g.196996028T>A | CA344005348 | CFHR5 | c.542T>A (p.Val181Glu) n.866T>A c.-24-86T>A (n.-24-86T>A) c.797T>A (p.Val266Glu) c.806T>A (p.Val269Glu) | |
1 | g.196996028T>C | CA344005351 | CFHR5 | c.542T>C (p.Val181Ala) n.866T>C c.-24-86T>C (n.-24-86T>C) c.797T>C (p.Val266Ala) c.806T>C (p.Val269Ala) | dbSNP gnomAD v4 |
1 | g.196996028T>G | CA344005352 | CFHR5 | c.542T>G (p.Val181Gly) n.866T>G c.-24-86T>G (n.-24-86T>G) c.797T>G (p.Val266Gly) c.806T>G (p.Val269Gly) | |
1 | g.196996028T= | CA1217885155 | CFHR5 | c.542T= (p.Val181=) n.866T= c.-24-86T= (n.-24-86T=) c.797T= (p.Val266=) c.806T= (p.Val269=) | |
1 | g.196996029G>A | CA422802810 | CFHR5 | c.543G>A (p.Val181=) n.867G>A c.-24-85G>A (n.-24-85G>A) c.798G>A (p.Val266=) c.807G>A (p.Val269=) | gnomAD v4 |
1 | g.196996029G>C | CA422802811 | CFHR5 | c.543G>C (p.Val181=) n.867G>C c.-24-85G>C (n.-24-85G>C) c.798G>C (p.Val266=) c.807G>C (p.Val269=) | |
1 | g.196996029G>T | CA422802812 | CFHR5 | c.543G>T (p.Val181=) n.867G>T c.-24-85G>T (n.-24-85G>T) c.798G>T (p.Val266=) c.807G>T (p.Val269=) | |
1 | g.196996030A>C | CA344005355 | CFHR5 | c.544A>C (p.Lys182Gln) n.868A>C c.-24-84A>C (n.-24-84A>C) c.799A>C (p.Lys267Gln) c.808A>C (p.Lys270Gln) | |
1 | g.196996030A>G | CA344005357 | CFHR5 | c.544A>G (p.Lys182Glu) n.868A>G c.-24-84A>G (n.-24-84A>G) c.799A>G (p.Lys267Glu) c.808A>G (p.Lys270Glu) | |
1 | g.196996030A>T | CA344005359 | CFHR5 | c.544A>T (p.Lys182Ter) n.868A>T c.-24-84A>T (n.-24-84A>T) c.799A>T (p.Lys267Ter) c.808A>T (p.Lys270Ter) | |
1 | g.196996031A>C | CA344005361 | CFHR5 | c.545A>C (p.Lys182Thr) n.869A>C c.-24-83A>C (n.-24-83A>C) c.800A>C (p.Lys267Thr) c.809A>C (p.Lys270Thr) | |
1 | g.196996031A>G | CA344005364 | CFHR5 | c.545A>G (p.Lys182Arg) n.869A>G c.-24-83A>G (n.-24-83A>G) c.800A>G (p.Lys267Arg) c.809A>G (p.Lys270Arg) | |
1 | g.196996031A>T | CA344005367 | CFHR5 | c.545A>T (p.Lys182Ile) n.869A>T c.-24-83A>T (n.-24-83A>T) c.800A>T (p.Lys267Ile) c.809A>T (p.Lys270Ile) | |
1 | g.196996032A= | CA1217885156 | CFHR5 | c.546A= (p.Lys182=) n.870A= c.-24-82A= (n.-24-82A=) c.801A= (p.Lys267=) c.810A= (p.Lys270=) | |
1 | g.196996032A>C | CA344005370 | CFHR5 | c.546A>C (p.Lys182Asn) n.870A>C c.-24-82A>C (n.-24-82A>C) c.801A>C (p.Lys267Asn) c.810A>C (p.Lys270Asn) | |
1 | g.196996032A>G | CA422802814 | CFHR5 | c.546A>G (p.Lys182=) n.870A>G c.-24-82A>G (n.-24-82A>G) c.801A>G (p.Lys267=) c.810A>G (p.Lys270=) | |
1 | g.196996032A>T | CA344005368 | CFHR5 | c.546A>T (p.Lys182Asn) n.870A>T c.-24-82A>T (n.-24-82A>T) c.801A>T (p.Lys267Asn) c.810A>T (p.Lys270Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996033A>C | CA344005371 | CFHR5 | c.547A>C (p.Thr183Pro) n.871A>C c.-24-81A>C (n.-24-81A>C) c.802A>C (p.Thr268Pro) c.811A>C (p.Thr271Pro) | |
1 | g.196996033A>G | CA344005372 | CFHR5 | c.547A>G (p.Thr183Ala) n.871A>G c.-24-81A>G (n.-24-81A>G) c.802A>G (p.Thr268Ala) c.811A>G (p.Thr271Ala) | gnomAD v4 COSMIC |
1 | g.196996033A>T | CA344005374 | CFHR5 | c.547A>T (p.Thr183Ser) n.871A>T c.-24-81A>T (n.-24-81A>T) c.802A>T (p.Thr268Ser) c.811A>T (p.Thr271Ser) | |
1 | g.196996034C>A | CA344005375 | CFHR5 | c.548C>A (p.Thr183Lys) n.872C>A c.-24-80C>A (n.-24-80C>A) c.803C>A (p.Thr268Lys) c.812C>A (p.Thr271Lys) | |
1 | g.196996034C>G | CA344005377 | CFHR5 | c.548C>G (p.Thr183Arg) n.872C>G c.-24-80C>G (n.-24-80C>G) c.803C>G (p.Thr268Arg) c.812C>G (p.Thr271Arg) | |
1 | g.196996034C>T | CA344005378 | CFHR5 | c.548C>T (p.Thr183Ile) n.872C>T c.-24-80C>T (n.-24-80C>T) c.803C>T (p.Thr268Ile) c.812C>T (p.Thr271Ile) | gnomAD v4 |
1 | g.196996034_196996036delinsCAT | CA1217885157 | CFHR5 | c.548_550delinsCAT (p.Thr183=) n.872_874delinsCAT c.-24-80_-24-78delinsCAT (n.-24-80_-24-78delinsCAT) c.803_805delinsCAT (p.Thr268=) c.812_814delinsCAT (p.Thr271=) | |
1 | g.196996035A= | CA1144109542 | CFHR5 | c.549A= (p.Thr183=) n.873A= c.-24-79A= (n.-24-79A=) c.804A= (p.Thr268=) c.813A= (p.Thr271=) | |
1 | g.196996035A>C | CA422802820 | CFHR5 | c.549A>C (p.Thr183=) n.873A>C c.-24-79A>C (n.-24-79A>C) c.804A>C (p.Thr268=) c.813A>C (p.Thr271=) | |
1 | g.196996035A>G | CA422802818 | CFHR5 | c.549A>G (p.Thr183=) n.873A>G c.-24-79A>G (n.-24-79A>G) c.804A>G (p.Thr268=) c.813A>G (p.Thr271=) | |
1 | g.196996035A>T | CA1307881 | CFHR5 | c.549A>T (p.Thr183=) n.873A>T c.-24-79A>T (n.-24-79A>T) c.804A>T (p.Thr268=) c.813A>T (p.Thr271=) | dbSNP ExAC gnomAD v2 |
1 | g.196996035_196996036del | CA35878547 | CFHR5 | c.549_550del (p.Cys184TrpfsTer5) n.873_874del c.-24-79_-24-78del (n.-24-79_-24-78del) c.804_805del (p.Cys269TrpfsTer5) c.813_814del (p.Cys272TrpfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996035_196996036delinsAT | CA1141262417 | CFHR5 | c.549_550delinsAT (p.Thr183=) n.873_874delinsAT c.-24-79_-24-78delinsAT (n.-24-79_-24-78delinsAT) c.804_805delinsAT (p.Thr268=) c.813_814delinsAT (p.Thr271=) | |
1 | g.196996036T>A | CA344005382 | CFHR5 | c.550T>A (p.Cys184Ser) n.874T>A c.-24-78T>A (n.-24-78T>A) c.805T>A (p.Cys269Ser) c.814T>A (p.Cys272Ser) | |
1 | g.196996036T>C | CA1307882 | CFHR5 | c.550T>C (p.Cys184Arg) n.874T>C c.-24-78T>C (n.-24-78T>C) c.805T>C (p.Cys269Arg) c.814T>C (p.Cys272Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996036T>G | CA344005389 | CFHR5 | c.550T>G (p.Cys184Gly) n.874T>G c.-24-78T>G (n.-24-78T>G) c.805T>G (p.Cys269Gly) c.814T>G (p.Cys272Gly) | |
1 | g.196996036T= | CA1217885158 | CFHR5 | c.550T= (p.Cys184=) n.874T= c.-24-78T= (n.-24-78T=) c.805T= (p.Cys269=) c.814T= (p.Cys272=) | |
1 | g.196996037G>A | CA1307883 | CFHR5 | c.551G>A (p.Cys184Tyr) n.875G>A c.-24-77G>A (n.-24-77G>A) c.806G>A (p.Cys269Tyr) c.815G>A (p.Cys272Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996037G>C | CA344005397 | CFHR5 | c.551G>C (p.Cys184Ser) n.875G>C c.-24-77G>C (n.-24-77G>C) c.806G>C (p.Cys269Ser) c.815G>C (p.Cys272Ser) | |
1 | g.196996037G= | CA1148459257 | CFHR5 | c.551G= (p.Cys184=) n.875G= c.-24-77G= (n.-24-77G=) c.806G= (p.Cys269=) c.815G= (p.Cys272=) | |
1 | g.196996037G>T | CA344005400 | CFHR5 | c.551G>T (p.Cys184Phe) n.875G>T c.-24-77G>T (n.-24-77G>T) c.806G>T (p.Cys269Phe) c.815G>T (p.Cys272Phe) | |
1 | g.196996038T>A | CA344005402 | CFHR5 | c.552T>A (p.Cys184Ter) n.876T>A c.-24-76T>A (n.-24-76T>A) c.807T>A (p.Cys269Ter) c.816T>A (p.Cys272Ter) | |
1 | g.196996038T>C | CA422802822 | CFHR5 | c.552T>C (p.Cys184=) n.876T>C c.-24-76T>C (n.-24-76T>C) c.807T>C (p.Cys269=) c.816T>C (p.Cys272=) | |
1 | g.196996038T>G | CA344005404 | CFHR5 | c.552T>G (p.Cys184Trp) n.876T>G c.-24-76T>G (n.-24-76T>G) c.807T>G (p.Cys269Trp) c.816T>G (p.Cys272Trp) | |
1 | g.196996039G>A | CA35878560 | CFHR5 | c.553G>A (p.Gly185Arg) n.877G>A c.-24-75G>A (n.-24-75G>A) c.808G>A (p.Gly270Arg) c.817G>A (p.Gly273Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996039G>C | CA344005405 | CFHR5 | c.553G>C (p.Gly185Arg) n.877G>C c.-24-75G>C (n.-24-75G>C) c.808G>C (p.Gly270Arg) c.817G>C (p.Gly273Arg) | |
1 | g.196996039G= | CA1217885159 | CFHR5 | c.553G= (p.Gly185=) n.877G= c.-24-75G= (n.-24-75G=) c.808G= (p.Gly270=) c.817G= (p.Gly273=) | |
1 | g.196996039G>T | CA344005406 | CFHR5 | c.553G>T (p.Gly185Ter) n.877G>T c.-24-75G>T (n.-24-75G>T) c.808G>T (p.Gly270Ter) c.817G>T (p.Gly273Ter) | gnomAD v4 |
1 | g.196996040G>A | CA1307884 | CFHR5 | c.554G>A (p.Gly185Glu) n.878G>A c.-24-74G>A (n.-24-74G>A) c.809G>A (p.Gly270Glu) c.818G>A (p.Gly273Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.196996040G>C | CA344005408 | CFHR5 | c.554G>C (p.Gly185Ala) n.878G>C c.-24-74G>C (n.-24-74G>C) c.809G>C (p.Gly270Ala) c.818G>C (p.Gly273Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996040G= | CA1217885160 | CFHR5 | c.554G= (p.Gly185=) n.878G= c.-24-74G= (n.-24-74G=) c.809G= (p.Gly270=) c.818G= (p.Gly273=) | |
1 | g.196996040G>T | CA344005410 | CFHR5 | c.554G>T (p.Gly185Val) n.878G>T c.-24-74G>T (n.-24-74G>T) c.809G>T (p.Gly270Val) c.818G>T (p.Gly273Val) | dbSNP |
1 | g.196996041A= | CA1217885161 | CFHR5 | c.555A= (p.Gly185=) n.879A= c.-24-73A= (n.-24-73A=) c.810A= (p.Gly270=) c.819A= (p.Gly273=) | |
1 | g.196996041A>C | CA422802824 | CFHR5 | c.555A>C (p.Gly185=) n.879A>C c.-24-73A>C (n.-24-73A>C) c.810A>C (p.Gly270=) c.819A>C (p.Gly273=) | |
1 | g.196996041A>G | CA422802825 | CFHR5 | c.555A>G (p.Gly185=) n.879A>G c.-24-73A>G (n.-24-73A>G) c.810A>G (p.Gly270=) c.819A>G (p.Gly273=) | |
1 | g.196996041A>T | CA422802826 | CFHR5 | c.555A>T (p.Gly185=) n.879A>T c.-24-73A>T (n.-24-73A>T) c.810A>T (p.Gly270=) c.819A>T (p.Gly273=) | |
1 | g.196996042T>A | CA344005412 | CFHR5 | c.556T>A (p.Tyr186Asn) n.880T>A c.-24-72T>A (n.-24-72T>A) c.811T>A (p.Tyr271Asn) c.820T>A (p.Tyr274Asn) | |
1 | g.196996042T>C | CA344005413 | CFHR5 | c.556T>C (p.Tyr186His) n.880T>C c.-24-72T>C (n.-24-72T>C) c.811T>C (p.Tyr271His) c.820T>C (p.Tyr274His) | |
1 | g.196996042T>G | CA344005414 | CFHR5 | c.556T>G (p.Tyr186Asp) n.880T>G c.-24-72T>G (n.-24-72T>G) c.811T>G (p.Tyr271Asp) c.820T>G (p.Tyr274Asp) | |
1 | g.196996042_196996043insTT | CA1217885162 | CFHR5 | c.556_557insTT (p.Tyr186PhefsTer26) n.880_881insTT c.-24-72_-24-71insTT (n.-24-72_-24-71insTT) c.811_812insTT (p.Tyr271PhefsTer26) c.820_821insTT (p.Tyr274PhefsTer26) | dbSNP |
1 | g.196996043A= | CA1217885163 | CFHR5 | c.557A= (p.Tyr186=) n.881A= c.-24-71A= (n.-24-71A=) c.812A= (p.Tyr271=) c.821A= (p.Tyr274=) | |
1 | g.196996043A>C | CA344005416 | CFHR5 | c.557A>C (p.Tyr186Ser) n.881A>C c.-24-71A>C (n.-24-71A>C) c.812A>C (p.Tyr271Ser) c.821A>C (p.Tyr274Ser) | |
1 | g.196996043A>G | CA344005418 | CFHR5 | c.557A>G (p.Tyr186Cys) n.881A>G c.-24-71A>G (n.-24-71A>G) c.812A>G (p.Tyr271Cys) c.821A>G (p.Tyr274Cys) | dbSNP gnomAD v4 |
1 | g.196996043A>T | CA344005421 | CFHR5 | c.557A>T (p.Tyr186Phe) n.881A>T c.-24-71A>T (n.-24-71A>T) c.812A>T (p.Tyr271Phe) c.821A>T (p.Tyr274Phe) | |
1 | g.196996044C>A | CA344005423 | CFHR5 | c.558C>A (p.Tyr186Ter) n.882C>A c.-24-70C>A (n.-24-70C>A) c.813C>A (p.Tyr271Ter) c.822C>A (p.Tyr274Ter) | gnomAD v4 |
1 | g.196996044C>G | CA344005424 | CFHR5 | c.558C>G (p.Tyr186Ter) n.882C>G c.-24-70C>G (n.-24-70C>G) c.813C>G (p.Tyr271Ter) c.822C>G (p.Tyr274Ter) | |
1 | g.196996044C>T | CA422802829 | CFHR5 | c.558C>T (p.Tyr186=) n.882C>T c.-24-70C>T (n.-24-70C>T) c.813C>T (p.Tyr271=) c.822C>T (p.Tyr274=) | |
1 | g.196996045A>C | CA344005426 | CFHR5 | c.559A>C (p.Ile187Leu) n.883A>C c.-24-69A>C (n.-24-69A>C) c.814A>C (p.Ile272Leu) c.823A>C (p.Ile275Leu) | |
1 | g.196996045A>G | CA344005429 | CFHR5 | c.559A>G (p.Ile187Val) n.883A>G c.-24-69A>G (n.-24-69A>G) c.814A>G (p.Ile272Val) c.823A>G (p.Ile275Val) | |
1 | g.196996045A>T | CA344005427 | CFHR5 | c.559A>T (p.Ile187Leu) n.883A>T c.-24-69A>T (n.-24-69A>T) c.814A>T (p.Ile272Leu) c.823A>T (p.Ile275Leu) | |
1 | g.196996046T>A | CA344005432 | CFHR5 | c.560T>A (p.Ile187Lys) n.884T>A c.-24-68T>A (n.-24-68T>A) c.815T>A (p.Ile272Lys) c.824T>A (p.Ile275Lys) | |
1 | g.196996046T>C | CA344005434 | CFHR5 | c.560T>C (p.Ile187Thr) n.884T>C c.-24-68T>C (n.-24-68T>C) c.815T>C (p.Ile272Thr) c.824T>C (p.Ile275Thr) | |
1 | g.196996046T>G | CA344005436 | CFHR5 | c.560T>G (p.Ile187Arg) n.884T>G c.-24-68T>G (n.-24-68T>G) c.815T>G (p.Ile272Arg) c.824T>G (p.Ile275Arg) | |
1 | g.196996046T= | CA1217885164 | CFHR5 | c.560T= (p.Ile187=) n.884T= c.-24-68T= (n.-24-68T=) c.815T= (p.Ile272=) c.824T= (p.Ile275=) | |
1 | g.196996047A>C | CA422802832 | CFHR5 | c.561A>C (p.Ile187=) n.885A>C c.-24-67A>C (n.-24-67A>C) c.816A>C (p.Ile272=) c.825A>C (p.Ile275=) | |
1 | g.196996047A>G | CA344005438 | CFHR5 | c.561A>G (p.Ile187Met) n.885A>G c.-24-67A>G (n.-24-67A>G) c.816A>G (p.Ile272Met) c.825A>G (p.Ile275Met) | |
1 | g.196996047A>T | CA422802834 | CFHR5 | c.561A>T (p.Ile187=) n.885A>T c.-24-67A>T (n.-24-67A>T) c.816A>T (p.Ile272=) c.825A>T (p.Ile275=) | |
1 | g.196996047_196996048dup | CA1010880314 | CFHR5 | c.561_562dup (p.Pro188HisfsTer24) n.885_886dup c.-24-67_-24-66dup (n.-24-67_-24-66dup) c.816_817dup (p.Pro273HisfsTer24) c.825_826dup (p.Pro276HisfsTer24) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996048C>A | CA1307885 | CFHR5 | c.562C>A (p.Pro188Thr) n.886C>A c.-24-66C>A (n.-24-66C>A) c.817C>A (p.Pro273Thr) c.826C>A (p.Pro276Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.196996048C= | CA1217885165 | CFHR5 | c.562C= (p.Pro188=) n.886C= c.-24-66C= (n.-24-66C=) c.817C= (p.Pro273=) c.826C= (p.Pro276=) | |
1 | g.196996048C>G | CA344005443 | CFHR5 | c.562C>G (p.Pro188Ala) n.886C>G c.-24-66C>G (n.-24-66C>G) c.817C>G (p.Pro273Ala) c.826C>G (p.Pro276Ala) | |
1 | g.196996048C>T | CA344005444 | CFHR5 | c.562C>T (p.Pro188Ser) n.886C>T c.-24-66C>T (n.-24-66C>T) c.817C>T (p.Pro273Ser) c.826C>T (p.Pro276Ser) | |
1 | g.196996049C>A | CA344005447 | CFHR5 | c.563C>A (p.Pro188His) n.887C>A c.-24-65C>A (n.-24-65C>A) c.818C>A (p.Pro273His) c.827C>A (p.Pro276His) | |
1 | g.196996049C= | CA1217885166 | CFHR5 | c.563C= (p.Pro188=) n.887C= c.-24-65C= (n.-24-65C=) c.818C= (p.Pro273=) c.827C= (p.Pro276=) | |
1 | g.196996049C>G | CA344005450 | CFHR5 | c.563C>G (p.Pro188Arg) n.887C>G c.-24-65C>G (n.-24-65C>G) c.818C>G (p.Pro273Arg) c.827C>G (p.Pro276Arg) | dbSNP |
1 | g.196996049C>T | CA344005451 | CFHR5 | c.563C>T (p.Pro188Leu) n.887C>T c.-24-65C>T (n.-24-65C>T) c.818C>T (p.Pro273Leu) c.827C>T (p.Pro276Leu) | |
1 | g.196996050T>A | CA1307886 | CFHR5 | c.564T>A (p.Pro188=) n.888T>A c.-24-64T>A (n.-24-64T>A) c.819T>A (p.Pro273=) c.828T>A (p.Pro276=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996050T>C | CA422802836 | CFHR5 | c.564T>C (p.Pro188=) n.888T>C c.-24-64T>C (n.-24-64T>C) c.819T>C (p.Pro273=) c.828T>C (p.Pro276=) | |
1 | g.196996050T>G | CA422802838 | CFHR5 | c.564T>G (p.Pro188=) n.888T>G c.-24-64T>G (n.-24-64T>G) c.819T>G (p.Pro273=) c.828T>G (p.Pro276=) | |
1 | g.196996050T= | CA1217885167 | CFHR5 | c.564T= (p.Pro188=) n.888T= c.-24-64T= (n.-24-64T=) c.819T= (p.Pro273=) c.828T= (p.Pro276=) | |
1 | g.196996051G>A | CA344005456 | CFHR5 | c.565G>A (p.Glu189Lys) n.889G>A c.-24-63G>A (n.-24-63G>A) c.820G>A (p.Glu274Lys) c.829G>A (p.Glu277Lys) | |
1 | g.196996051G>C | CA344005454 | CFHR5 | c.565G>C (p.Glu189Gln) n.889G>C c.-24-63G>C (n.-24-63G>C) c.820G>C (p.Glu274Gln) c.829G>C (p.Glu277Gln) | |
1 | g.196996051G>T | CA344005453 | CFHR5 | c.565G>T (p.Glu189Ter) n.889G>T c.-24-63G>T (n.-24-63G>T) c.820G>T (p.Glu274Ter) c.829G>T (p.Glu277Ter) | |
1 | g.196996052A>C | CA344005458 | CFHR5 | c.566A>C (p.Glu189Ala) n.890A>C c.-24-62A>C (n.-24-62A>C) c.821A>C (p.Glu274Ala) c.830A>C (p.Glu277Ala) | |
1 | g.196996052A>G | CA344005460 | CFHR5 | c.566A>G (p.Glu189Gly) n.890A>G c.-24-62A>G (n.-24-62A>G) c.821A>G (p.Glu274Gly) c.830A>G (p.Glu277Gly) | |
1 | g.196996052A>T | CA344005462 | CFHR5 | c.566A>T (p.Glu189Val) n.890A>T c.-24-62A>T (n.-24-62A>T) c.821A>T (p.Glu274Val) c.830A>T (p.Glu277Val) | |
1 | g.196996053A>C | CA344005465 | CFHR5 | c.567A>C (p.Glu189Asp) n.891A>C c.-24-61A>C (n.-24-61A>C) c.822A>C (p.Glu274Asp) c.831A>C (p.Glu277Asp) | |
1 | g.196996053A>G | CA422802840 | CFHR5 | c.567A>G (p.Glu189=) n.891A>G c.-24-61A>G (n.-24-61A>G) c.822A>G (p.Glu274=) c.831A>G (p.Glu277=) | |
1 | g.196996053A>T | CA344005466 | CFHR5 | c.567A>T (p.Glu189Asp) n.891A>T c.-24-61A>T (n.-24-61A>T) c.822A>T (p.Glu274Asp) c.831A>T (p.Glu277Asp) | |
1 | g.196996054C>A | CA344005469 | CFHR5 | c.568C>A (p.Leu190Ile) n.892C>A c.-24-60C>A (n.-24-60C>A) c.823C>A (p.Leu275Ile) c.832C>A (p.Leu278Ile) | |
1 | g.196996054C= | CA1217885168 | CFHR5 | c.568C= (p.Leu190=) n.892C= c.-24-60C= (n.-24-60C=) c.823C= (p.Leu275=) c.832C= (p.Leu278=) | |
1 | g.196996054C>G | CA344005472 | CFHR5 | c.568C>G (p.Leu190Val) n.892C>G c.-24-60C>G (n.-24-60C>G) c.823C>G (p.Leu275Val) c.832C>G (p.Leu278Val) | |
1 | g.196996054C>T | CA1307887 | CFHR5 | c.568C>T (p.Leu190Phe) n.892C>T c.-24-60C>T (n.-24-60C>T) c.823C>T (p.Leu275Phe) c.832C>T (p.Leu278Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996055T>A | CA344005475 | CFHR5 | c.569T>A (p.Leu190His) n.893T>A c.-24-59T>A (n.-24-59T>A) c.824T>A (p.Leu275His) c.833T>A (p.Leu278His) | |
1 | g.196996055T>C | CA344005476 | CFHR5 | c.569T>C (p.Leu190Pro) n.893T>C c.-24-59T>C (n.-24-59T>C) c.824T>C (p.Leu275Pro) c.833T>C (p.Leu278Pro) | |
1 | g.196996055T>G | CA344005477 | CFHR5 | c.569T>G (p.Leu190Arg) n.893T>G c.-24-59T>G (n.-24-59T>G) c.824T>G (p.Leu275Arg) c.833T>G (p.Leu278Arg) | |
1 | g.196996056C>A | CA422802842 | CFHR5 | c.570C>A (p.Leu190=) n.894C>A c.-24-58C>A (n.-24-58C>A) c.825C>A (p.Leu275=) c.834C>A (p.Leu278=) | COSMIC COSMIC |
1 | g.196996056C= | CA1217885169 | CFHR5 | c.570C= (p.Leu190=) n.894C= c.-24-58C= (n.-24-58C=) c.825C= (p.Leu275=) c.834C= (p.Leu278=) | |
1 | g.196996056C>G | CA422802843 | CFHR5 | c.570C>G (p.Leu190=) n.894C>G c.-24-58C>G (n.-24-58C>G) c.825C>G (p.Leu275=) c.834C>G (p.Leu278=) | |
1 | g.196996056C>T | CA1307888 | CFHR5 | c.570C>T (p.Leu190=) n.894C>T c.-24-58C>T (n.-24-58C>T) c.825C>T (p.Leu275=) c.834C>T (p.Leu278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996057G>A | CA1307889 | CFHR5 | c.571G>A (p.Glu191Lys) n.895G>A c.-24-57G>A (n.-24-57G>A) c.826G>A (p.Glu276Lys) c.835G>A (p.Glu279Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.196996057G>C | CA344005480 | CFHR5 | c.571G>C (p.Glu191Gln) n.895G>C c.-24-57G>C (n.-24-57G>C) c.826G>C (p.Glu276Gln) c.835G>C (p.Glu279Gln) | |
1 | g.196996057G= | CA1143358665 | CFHR5 | c.571G= (p.Glu191=) n.895G= c.-24-57G= (n.-24-57G=) c.826G= (p.Glu276=) c.835G= (p.Glu279=) | |
1 | g.196996057G>T | CA344005479 | CFHR5 | c.571G>T (p.Glu191Ter) n.895G>T c.-24-57G>T (n.-24-57G>T) c.826G>T (p.Glu276Ter) c.835G>T (p.Glu279Ter) | |
1 | g.196996058A>C | CA344005482 | CFHR5 | c.572A>C (p.Glu191Ala) n.896A>C c.-24-56A>C (n.-24-56A>C) c.827A>C (p.Glu276Ala) c.836A>C (p.Glu279Ala) | |
1 | g.196996058A>G | CA344005484 | CFHR5 | c.572A>G (p.Glu191Gly) n.896A>G c.-24-56A>G (n.-24-56A>G) c.827A>G (p.Glu276Gly) c.836A>G (p.Glu279Gly) | |
1 | g.196996058A>T | CA344005485 | CFHR5 | c.572A>T (p.Glu191Val) n.896A>T c.-24-56A>T (n.-24-56A>T) c.827A>T (p.Glu276Val) c.836A>T (p.Glu279Val) | |
1 | g.196996059G>A | CA422802847 | CFHR5 | c.573G>A (p.Glu191=) n.897G>A c.-24-55G>A (n.-24-55G>A) c.828G>A (p.Glu276=) c.837G>A (p.Glu279=) | |
1 | g.196996059G>C | CA344005488 | CFHR5 | c.573G>C (p.Glu191Asp) n.897G>C c.-24-55G>C (n.-24-55G>C) c.828G>C (p.Glu276Asp) c.837G>C (p.Glu279Asp) | |
1 | g.196996059G>T | CA344005490 | CFHR5 | c.573G>T (p.Glu191Asp) n.897G>T c.-24-55G>T (n.-24-55G>T) c.828G>T (p.Glu276Asp) c.837G>T (p.Glu279Asp) | |
1 | g.196996060T>A | CA220087 | CFHR5 | c.574T>A (p.Tyr192Asn) n.898T>A c.-24-54T>A (n.-24-54T>A) c.829T>A (p.Tyr277Asn) c.838T>A (p.Tyr280Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996060T>C | CA344005493 | CFHR5 | c.574T>C (p.Tyr192His) n.898T>C c.-24-54T>C (n.-24-54T>C) c.829T>C (p.Tyr277His) c.838T>C (p.Tyr280His) | |
1 | g.196996060T>G | CA344005491 | CFHR5 | c.574T>G (p.Tyr192Asp) n.898T>G c.-24-54T>G (n.-24-54T>G) c.829T>G (p.Tyr277Asp) c.838T>G (p.Tyr280Asp) | |
1 | g.196996060T= | CA1143538549 | CFHR5 | c.574T= (p.Tyr192=) n.898T= c.-24-54T= (n.-24-54T=) c.829T= (p.Tyr277=) c.838T= (p.Tyr280=) | |
1 | g.196996061A= | CA1217885170 | CFHR5 | c.575A= (p.Tyr192=) n.899A= c.-24-53A= (n.-24-53A=) c.830A= (p.Tyr277=) c.839A= (p.Tyr280=) | |
1 | g.196996061A>C | CA344005496 | CFHR5 | c.575A>C (p.Tyr192Ser) n.899A>C c.-24-53A>C (n.-24-53A>C) c.830A>C (p.Tyr277Ser) c.839A>C (p.Tyr280Ser) | |
1 | g.196996061A>G | CA1307890 | CFHR5 | c.575A>G (p.Tyr192Cys) n.899A>G c.-24-53A>G (n.-24-53A>G) c.830A>G (p.Tyr277Cys) c.839A>G (p.Tyr280Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996061A>T | CA344005505 | CFHR5 | c.575A>T (p.Tyr192Phe) n.899A>T c.-24-53A>T (n.-24-53A>T) c.830A>T (p.Tyr277Phe) c.839A>T (p.Tyr280Phe) | |
1 | g.196996062C>A | CA344005506 | CFHR5 | c.576C>A (p.Tyr192Ter) n.900C>A c.-24-52C>A (n.-24-52C>A) c.831C>A (p.Tyr277Ter) c.840C>A (p.Tyr280Ter) | gnomAD v4 |
1 | g.196996062C= | CA1143542265 | CFHR5 | c.576C= (p.Tyr192=) n.900C= c.-24-52C= (n.-24-52C=) c.831C= (p.Tyr277=) c.840C= (p.Tyr280=) | |
1 | g.196996062C>G | CA344005509 | CFHR5 | c.576C>G (p.Tyr192Ter) n.900C>G c.-24-52C>G (n.-24-52C>G) c.831C>G (p.Tyr277Ter) c.840C>G (p.Tyr280Ter) | |
1 | g.196996062C>T | CA1307891 | CFHR5 | c.576C>T (p.Tyr192=) n.900C>T c.-24-52C>T (n.-24-52C>T) c.831C>T (p.Tyr277=) c.840C>T (p.Tyr280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.196996063G>A | CA1307892 | CFHR5 | c.577G>A (p.Gly193Ser) n.901G>A c.-24-51G>A (n.-24-51G>A) c.832G>A (p.Gly278Ser) c.841G>A (p.Gly281Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996063G>C | CA344005526 | CFHR5 | c.577G>C (p.Gly193Arg) n.901G>C c.-24-51G>C (n.-24-51G>C) c.832G>C (p.Gly278Arg) c.841G>C (p.Gly281Arg) | gnomAD v4 |
1 | g.196996063G= | CA1141653787 | CFHR5 | c.577G= (p.Gly193=) n.901G= c.-24-51G= (n.-24-51G=) c.832G= (p.Gly278=) c.841G= (p.Gly281=) | |
1 | g.196996063G>T | CA344005523 | CFHR5 | c.577G>T (p.Gly193Cys) n.901G>T c.-24-51G>T (n.-24-51G>T) c.832G>T (p.Gly278Cys) c.841G>T (p.Gly281Cys) | dbSNP gnomAD v4 |
1 | g.196996064G>A | CA344005528 | CFHR5 | c.578G>A (p.Gly193Asp) n.902G>A c.-24-50G>A (n.-24-50G>A) c.833G>A (p.Gly278Asp) c.842G>A (p.Gly281Asp) | |
1 | g.196996064G>C | CA344005531 | CFHR5 | c.578G>C (p.Gly193Ala) n.902G>C c.-24-50G>C (n.-24-50G>C) c.833G>C (p.Gly278Ala) c.842G>C (p.Gly281Ala) | |
1 | g.196996064G= | CA1217885171 | CFHR5 | c.578G= (p.Gly193=) n.902G= c.-24-50G= (n.-24-50G=) c.833G= (p.Gly278=) c.842G= (p.Gly281=) | |
1 | g.196996064G>T | CA35878589 | CFHR5 | c.578G>T (p.Gly193Val) n.902G>T c.-24-50G>T (n.-24-50G>T) c.833G>T (p.Gly278Val) c.842G>T (p.Gly281Val) | dbSNP |
1 | g.196996065T>A | CA422802854 | CFHR5 | c.579T>A (p.Gly193=) n.903T>A c.-24-49T>A (n.-24-49T>A) c.834T>A (p.Gly278=) c.843T>A (p.Gly281=) | |
1 | g.196996065T>C | CA422802852 | CFHR5 | c.579T>C (p.Gly193=) n.903T>C c.-24-49T>C (n.-24-49T>C) c.834T>C (p.Gly278=) c.843T>C (p.Gly281=) | |
1 | g.196996065T>G | CA422802853 | CFHR5 | c.579T>G (p.Gly193=) n.903T>G c.-24-49T>G (n.-24-49T>G) c.834T>G (p.Gly278=) c.843T>G (p.Gly281=) | |
1 | g.196996066T>A | CA1307893 | CFHR5 | c.580T>A (p.Tyr194Asn) n.904T>A c.-24-48T>A (n.-24-48T>A) c.835T>A (p.Tyr279Asn) c.844T>A (p.Tyr282Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996066T>C | CA344005535 | CFHR5 | c.580T>C (p.Tyr194His) n.904T>C c.-24-48T>C (n.-24-48T>C) c.835T>C (p.Tyr279His) c.844T>C (p.Tyr282His) | |
1 | g.196996066T>G | CA344005537 | CFHR5 | c.580T>G (p.Tyr194Asp) n.904T>G c.-24-48T>G (n.-24-48T>G) c.835T>G (p.Tyr279Asp) c.844T>G (p.Tyr282Asp) | gnomAD v4 |
1 | g.196996066T= | CA1141917924 | CFHR5 | c.580T= (p.Tyr194=) n.904T= c.-24-48T= (n.-24-48T=) c.835T= (p.Tyr279=) c.844T= (p.Tyr282=) | |
1 | g.196996067A>C | CA344005541 | CFHR5 | c.581A>C (p.Tyr194Ser) n.905A>C c.-24-47A>C (n.-24-47A>C) c.836A>C (p.Tyr279Ser) c.845A>C (p.Tyr282Ser) | |
1 | g.196996067A>G | CA344005544 | CFHR5 | c.581A>G (p.Tyr194Cys) n.905A>G c.-24-47A>G (n.-24-47A>G) c.836A>G (p.Tyr279Cys) c.845A>G (p.Tyr282Cys) | |
1 | g.196996067A>T | CA344005547 | CFHR5 | c.581A>T (p.Tyr194Phe) n.905A>T c.-24-47A>T (n.-24-47A>T) c.836A>T (p.Tyr279Phe) c.845A>T (p.Tyr282Phe) | |
1 | g.196996068T>A | CA344005548 | CFHR5 | c.582T>A (p.Tyr194Ter) n.906T>A c.-24-46T>A (n.-24-46T>A) c.837T>A (p.Tyr279Ter) c.846T>A (p.Tyr282Ter) | |
1 | g.196996068T>C | CA422802858 | CFHR5 | c.582T>C (p.Tyr194=) n.906T>C c.-24-46T>C (n.-24-46T>C) c.837T>C (p.Tyr279=) c.846T>C (p.Tyr282=) | dbSNP gnomAD v4 |
1 | g.196996068T>G | CA344005551 | CFHR5 | c.582T>G (p.Tyr194Ter) n.906T>G c.-24-46T>G (n.-24-46T>G) c.837T>G (p.Tyr279Ter) c.846T>G (p.Tyr282Ter) | gnomAD v4 |
1 | g.196996068T= | CA1217885172 | CFHR5 | c.582T= (p.Tyr194=) n.906T= c.-24-46T= (n.-24-46T=) c.837T= (p.Tyr279=) c.846T= (p.Tyr282=) | |
1 | g.196996069G>A | CA344005556 | CFHR5 | c.583G>A (p.Val195Ile) n.907G>A c.-24-45G>A (n.-24-45G>A) c.838G>A (p.Val280Ile) c.847G>A (p.Val283Ile) | gnomAD v4 |
1 | g.196996069G>C | CA344005557 | CFHR5 | c.583G>C (p.Val195Leu) n.907G>C c.-24-45G>C (n.-24-45G>C) c.838G>C (p.Val280Leu) c.847G>C (p.Val283Leu) | |
1 | g.196996069G>T | CA344005553 | CFHR5 | c.583G>T (p.Val195Phe) n.907G>T c.-24-45G>T (n.-24-45G>T) c.838G>T (p.Val280Phe) c.847G>T (p.Val283Phe) | gnomAD v4 |
1 | g.196996070T>A | CA344005559 | CFHR5 | c.584T>A (p.Val195Asp) n.908T>A c.-24-44T>A (n.-24-44T>A) c.839T>A (p.Val280Asp) c.848T>A (p.Val283Asp) | |
1 | g.196996070T>C | CA344005558 | CFHR5 | c.584T>C (p.Val195Ala) n.908T>C c.-24-44T>C (n.-24-44T>C) c.839T>C (p.Val280Ala) c.848T>C (p.Val283Ala) | |
1 | g.196996070T>G | CA344005560 | CFHR5 | c.584T>G (p.Val195Gly) n.908T>G c.-24-44T>G (n.-24-44T>G) c.839T>G (p.Val280Gly) c.848T>G (p.Val283Gly) | gnomAD v4 |
1 | g.196996071T>A | CA422802860 | CFHR5 | c.585T>A (p.Val195=) n.909T>A c.-24-43T>A (n.-24-43T>A) c.840T>A (p.Val280=) c.849T>A (p.Val283=) | |
1 | g.196996071T>C | CA422802861 | CFHR5 | c.585T>C (p.Val195=) n.909T>C c.-24-43T>C (n.-24-43T>C) c.840T>C (p.Val280=) c.849T>C (p.Val283=) | |
1 | g.196996071T>G | CA422802862 | CFHR5 | c.585T>G (p.Val195=) n.909T>G c.-24-43T>G (n.-24-43T>G) c.840T>G (p.Val280=) c.849T>G (p.Val283=) | gnomAD v4 |
1 | g.196996072C>A | CA344005562 | CFHR5 | c.586C>A (p.Gln196Lys) n.910C>A c.-24-42C>A (n.-24-42C>A) c.841C>A (p.Gln281Lys) c.850C>A (p.Gln284Lys) | ClinVar |
1 | g.196996072C= | CA1217885173 | CFHR5 | c.586C= (p.Gln196=) n.910C= c.-24-42C= (n.-24-42C=) c.841C= (p.Gln281=) c.850C= (p.Gln284=) | |
1 | g.196996072C>G | CA344005564 | CFHR5 | c.586C>G (p.Gln196Glu) n.910C>G c.-24-42C>G (n.-24-42C>G) c.841C>G (p.Gln281Glu) c.850C>G (p.Gln284Glu) | |
1 | g.196996072C>T | CA344005565 | CFHR5 | c.586C>T (p.Gln196Ter) n.910C>T c.-24-42C>T (n.-24-42C>T) c.841C>T (p.Gln281Ter) c.850C>T (p.Gln284Ter) | dbSNP gnomAD v4 |
1 | g.196996073A= | CA1217885174 | CFHR5 | c.587A= (p.Gln196=) n.911A= c.-24-41A= (n.-24-41A=) c.842A= (p.Gln281=) c.851A= (p.Gln284=) | |
1 | g.196996073A>C | CA344005574 | CFHR5 | c.587A>C (p.Gln196Pro) n.911A>C c.-24-41A>C (n.-24-41A>C) c.842A>C (p.Gln281Pro) c.851A>C (p.Gln284Pro) | |
1 | g.196996073A>G | CA344005577 | CFHR5 | c.587A>G (p.Gln196Arg) n.911A>G c.-24-41A>G (n.-24-41A>G) c.842A>G (p.Gln281Arg) c.851A>G (p.Gln284Arg) | dbSNP gnomAD v4 |
1 | g.196996073A>T | CA344005579 | CFHR5 | c.587A>T (p.Gln196Leu) n.911A>T c.-24-41A>T (n.-24-41A>T) c.842A>T (p.Gln281Leu) c.851A>T (p.Gln284Leu) | |
1 | g.196996074G>A | CA422802865 | CFHR5 | c.588G>A (p.Gln196=) n.912G>A c.-24-40G>A (n.-24-40G>A) c.843G>A (p.Gln281=) c.852G>A (p.Gln284=) | gnomAD v4 |
1 | g.196996074G>C | CA344005581 | CFHR5 | c.588G>C (p.Gln196His) n.912G>C c.-24-40G>C (n.-24-40G>C) c.843G>C (p.Gln281His) c.852G>C (p.Gln284His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996074G= | CA1217885175 | CFHR5 | c.588G= (p.Gln196=) n.912G= c.-24-40G= (n.-24-40G=) c.843G= (p.Gln281=) c.852G= (p.Gln284=) | |
1 | g.196996074G>T | CA344005582 | CFHR5 | c.588G>T (p.Gln196His) n.912G>T c.-24-40G>T (n.-24-40G>T) c.843G>T (p.Gln281His) c.852G>T (p.Gln284His) | |
1 | g.196996075C>A | CA344005584 | CFHR5 | c.589C>A (p.Pro197Thr) n.913C>A c.-24-39C>A (n.-24-39C>A) c.844C>A (p.Pro282Thr) c.853C>A (p.Pro285Thr) | |
1 | g.196996075C>G | CA344005587 | CFHR5 | c.589C>G (p.Pro197Ala) n.913C>G c.-24-39C>G (n.-24-39C>G) c.844C>G (p.Pro282Ala) c.853C>G (p.Pro285Ala) | |
1 | g.196996075C>T | CA344005588 | CFHR5 | c.589C>T (p.Pro197Ser) n.913C>T c.-24-39C>T (n.-24-39C>T) c.844C>T (p.Pro282Ser) c.853C>T (p.Pro285Ser) | |
1 | g.196996076C>A | CA344005589 | CFHR5 | c.590C>A (p.Pro197Gln) n.914C>A c.-24-38C>A (n.-24-38C>A) c.845C>A (p.Pro282Gln) c.854C>A (p.Pro285Gln) | |
1 | g.196996076C= | CA1217885176 | CFHR5 | c.590C= (p.Pro197=) n.914C= c.-24-38C= (n.-24-38C=) c.845C= (p.Pro282=) c.854C= (p.Pro285=) | |
1 | g.196996076C>G | CA344005591 | CFHR5 | c.590C>G (p.Pro197Arg) n.914C>G c.-24-38C>G (n.-24-38C>G) c.845C>G (p.Pro282Arg) c.854C>G (p.Pro285Arg) | |
1 | g.196996076C>T | CA1307894 | CFHR5 | c.590C>T (p.Pro197Leu) n.914C>T c.-24-38C>T (n.-24-38C>T) c.845C>T (p.Pro282Leu) c.854C>T (p.Pro285Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996077G>A | CA1307895 | CFHR5 | c.591G>A (p.Pro197=) n.915G>A c.-24-37G>A (n.-24-37G>A) c.846G>A (p.Pro282=) c.855G>A (p.Pro285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996077G>C | CA1307896 | CFHR5 | c.591G>C (p.Pro197=) n.915G>C c.-24-37G>C (n.-24-37G>C) c.846G>C (p.Pro282=) c.855G>C (p.Pro285=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996077G= | CA1217885177 | CFHR5 | c.591G= (p.Pro197=) n.915G= c.-24-37G= (n.-24-37G=) c.846G= (p.Pro282=) c.855G= (p.Pro285=) | |
1 | g.196996077G>T | CA422802866 | CFHR5 | c.591G>T (p.Pro197=) n.915G>T c.-24-37G>T (n.-24-37G>T) c.846G>T (p.Pro282=) c.855G>T (p.Pro285=) | gnomAD v4 |
1 | g.196996078T>A | CA344005598 | CFHR5 | c.592T>A (p.Ser198Thr) n.916T>A c.-24-36T>A (n.-24-36T>A) c.847T>A (p.Ser283Thr) c.856T>A (p.Ser286Thr) | |
1 | g.196996078T>C | CA344005601 | CFHR5 | c.592T>C (p.Ser198Pro) n.916T>C c.-24-36T>C (n.-24-36T>C) c.847T>C (p.Ser283Pro) c.856T>C (p.Ser286Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996078T>G | CA344005602 | CFHR5 | c.592T>G (p.Ser198Ala) n.916T>G c.-24-36T>G (n.-24-36T>G) c.847T>G (p.Ser283Ala) c.856T>G (p.Ser286Ala) | |
1 | g.196996078T= | CA1217885178 | CFHR5 | c.592T= (p.Ser198=) n.916T= c.-24-36T= (n.-24-36T=) c.847T= (p.Ser283=) c.856T= (p.Ser286=) | |
1 | g.196996079C>A | CA344005604 | CFHR5 | c.593C>A (p.Ser198Tyr) n.917C>A c.-24-35C>A (n.-24-35C>A) c.848C>A (p.Ser283Tyr) c.857C>A (p.Ser286Tyr) | |
1 | g.196996079C>G | CA344005606 | CFHR5 | c.593C>G (p.Ser198Cys) n.917C>G c.-24-35C>G (n.-24-35C>G) c.848C>G (p.Ser283Cys) c.857C>G (p.Ser286Cys) | |
1 | g.196996079C>T | CA344005608 | CFHR5 | c.593C>T (p.Ser198Phe) n.917C>T c.-24-35C>T (n.-24-35C>T) c.848C>T (p.Ser283Phe) c.857C>T (p.Ser286Phe) | |
1 | g.196996080T>A | CA422802868 | CFHR5 | c.594T>A (p.Ser198=) n.918T>A c.-24-34T>A (n.-24-34T>A) c.849T>A (p.Ser283=) c.858T>A (p.Ser286=) | |
1 | g.196996080T>C | CA1307897 | CFHR5 | c.594T>C (p.Ser198=) n.918T>C c.-24-34T>C (n.-24-34T>C) c.849T>C (p.Ser283=) c.858T>C (p.Ser286=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996080T>G | CA422802869 | CFHR5 | c.594T>G (p.Ser198=) n.918T>G c.-24-34T>G (n.-24-34T>G) c.849T>G (p.Ser283=) c.858T>G (p.Ser286=) | |
1 | g.196996080T= | CA1217885179 | CFHR5 | c.594T= (p.Ser198=) n.918T= c.-24-34T= (n.-24-34T=) c.849T= (p.Ser283=) c.858T= (p.Ser286=) | |
1 | g.196996081G>A | CA344005610 | CFHR5 | c.595G>A (p.Val199Ile) n.919G>A c.-24-33G>A (n.-24-33G>A) c.850G>A (p.Val284Ile) c.859G>A (p.Val287Ile) | |
1 | g.196996081G>C | CA344005612 | CFHR5 | c.595G>C (p.Val199Leu) n.919G>C c.-24-33G>C (n.-24-33G>C) c.850G>C (p.Val284Leu) c.859G>C (p.Val287Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996081G= | CA1217885180 | CFHR5 | c.595G= (p.Val199=) n.919G= c.-24-33G= (n.-24-33G=) c.850G= (p.Val284=) c.859G= (p.Val287=) | |
1 | g.196996081G>T | CA344005614 | CFHR5 | c.595G>T (p.Val199Phe) n.919G>T c.-24-33G>T (n.-24-33G>T) c.850G>T (p.Val284Phe) c.859G>T (p.Val287Phe) | gnomAD v4 |
1 | g.196996082T>A | CA344005616 | CFHR5 | c.596T>A (p.Val199Asp) n.920T>A c.-24-32T>A (n.-24-32T>A) c.851T>A (p.Val284Asp) c.860T>A (p.Val287Asp) | |
1 | g.196996082T>C | CA344005617 | CFHR5 | c.596T>C (p.Val199Ala) n.920T>C c.-24-32T>C (n.-24-32T>C) c.851T>C (p.Val284Ala) c.860T>C (p.Val287Ala) | gnomAD v4 |
1 | g.196996082T>G | CA344005620 | CFHR5 | c.596T>G (p.Val199Gly) n.920T>G c.-24-32T>G (n.-24-32T>G) c.851T>G (p.Val284Gly) c.860T>G (p.Val287Gly) | |
1 | g.196996083C>A | CA422802871 | CFHR5 | c.597C>A (p.Val199=) n.921C>A c.-24-31C>A (n.-24-31C>A) c.852C>A (p.Val284=) c.861C>A (p.Val287=) | |
1 | g.196996083C= | CA1217885181 | CFHR5 | c.597C= (p.Val199=) n.921C= c.-24-31C= (n.-24-31C=) c.852C= (p.Val284=) c.861C= (p.Val287=) | |
1 | g.196996083C>G | CA422802872 | CFHR5 | c.597C>G (p.Val199=) n.921C>G c.-24-31C>G (n.-24-31C>G) c.852C>G (p.Val284=) c.861C>G (p.Val287=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996083C>T | CA422802873 | CFHR5 | c.597C>T (p.Val199=) n.921C>T c.-24-31C>T (n.-24-31C>T) c.852C>T (p.Val284=) c.861C>T (p.Val287=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.196996084C>A | CA344005623 | CFHR5 | c.598C>A (p.Pro200Thr) n.922C>A c.-24-30C>A (n.-24-30C>A) c.853C>A (p.Pro285Thr) c.862C>A (p.Pro288Thr) | |
1 | g.196996084C>G | CA344005627 | CFHR5 | c.598C>G (p.Pro200Ala) n.922C>G c.-24-30C>G (n.-24-30C>G) c.853C>G (p.Pro285Ala) c.862C>G (p.Pro288Ala) | |
1 | g.196996084C>T | CA344005624 | CFHR5 | c.598C>T (p.Pro200Ser) n.922C>T c.-24-30C>T (n.-24-30C>T) c.853C>T (p.Pro285Ser) c.862C>T (p.Pro288Ser) | |
1 | g.196996085C>A | CA344005630 | CFHR5 | c.599C>A (p.Pro200His) n.923C>A c.-24-29C>A (n.-24-29C>A) c.854C>A (p.Pro285His) c.863C>A (p.Pro288His) | |
1 | g.196996085C>G | CA344005633 | CFHR5 | c.599C>G (p.Pro200Arg) n.923C>G c.-24-29C>G (n.-24-29C>G) c.854C>G (p.Pro285Arg) c.863C>G (p.Pro288Arg) | |
1 | g.196996085C>T | CA344005635 | CFHR5 | c.599C>T (p.Pro200Leu) n.923C>T c.-24-29C>T (n.-24-29C>T) c.854C>T (p.Pro285Leu) c.863C>T (p.Pro288Leu) | gnomAD v4 |
1 | g.196996086T>A | CA422802876 | CFHR5 | c.600T>A (p.Pro200=) n.924T>A c.-24-28T>A (n.-24-28T>A) c.855T>A (p.Pro285=) c.864T>A (p.Pro288=) | |
1 | g.196996086T>C | CA422802878 | CFHR5 | c.600T>C (p.Pro200=) n.924T>C c.-24-28T>C (n.-24-28T>C) c.855T>C (p.Pro285=) c.864T>C (p.Pro288=) | |
1 | g.196996086T>G | CA422802877 | CFHR5 | c.600T>G (p.Pro200=) n.924T>G c.-24-28T>G (n.-24-28T>G) c.855T>G (p.Pro285=) c.864T>G (p.Pro288=) | |
1 | g.196996088_196996089insAACATGTTGTCC | CA2649656662 | CFHR5 | c.602_603insAACATGTTGTCC (p.Pro201_Tyr202insThrCysCysPro) n.926_927insAACATGTTGTCC c.-24-26_-24-25insAACATGTTGTCC (n.-24-26_-24-25insAACATGTTGTCC) c.857_858insAACATGTTGTCC (p.Pro286_Tyr287insThrCysCysPro) c.866_867insAACATGTTGTCC (p.Pro289_Tyr290insThrCysCysPro) | gnomAD v4 |
1 | g.196996087C>A | CA344005637 | CFHR5 | c.601C>A (p.Pro201Thr) n.925C>A c.-24-27C>A (n.-24-27C>A) c.856C>A (p.Pro286Thr) c.865C>A (p.Pro289Thr) | |
1 | g.196996087C>G | CA344005642 | CFHR5 | c.601C>G (p.Pro201Ala) n.925C>G c.-24-27C>G (n.-24-27C>G) c.856C>G (p.Pro286Ala) c.865C>G (p.Pro289Ala) | |
1 | g.196996087C>T | CA344005644 | CFHR5 | c.601C>T (p.Pro201Ser) n.925C>T c.-24-27C>T (n.-24-27C>T) c.856C>T (p.Pro286Ser) c.865C>T (p.Pro289Ser) | |
1 | g.196996088C>A | CA344005646 | CFHR5 | c.602C>A (p.Pro201His) n.926C>A c.-24-26C>A (n.-24-26C>A) c.857C>A (p.Pro286His) c.866C>A (p.Pro289His) | |
1 | g.196996088C= | CA1217885182 | CFHR5 | c.602C= (p.Pro201=) n.926C= c.-24-26C= (n.-24-26C=) c.857C= (p.Pro286=) c.866C= (p.Pro289=) | |
1 | g.196996088C>G | CA344005649 | CFHR5 | c.602C>G (p.Pro201Arg) n.926C>G c.-24-26C>G (n.-24-26C>G) c.857C>G (p.Pro286Arg) c.866C>G (p.Pro289Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.196996088C>T | CA344005651 | CFHR5 | c.602C>T (p.Pro201Leu) n.926C>T c.-24-26C>T (n.-24-26C>T) c.857C>T (p.Pro286Leu) c.866C>T (p.Pro289Leu) | dbSNP COSMIC COSMIC |
1 | g.196996089C>A | CA422802880 | CFHR5 | c.603C>A (p.Pro201=) n.927C>A c.-24-25C>A (n.-24-25C>A) c.858C>A (p.Pro286=) c.867C>A (p.Pro289=) | |
1 | g.196996089C= | CA1217885183 | CFHR5 | c.603C= (p.Pro201=) n.927C= c.-24-25C= (n.-24-25C=) c.858C= (p.Pro286=) c.867C= (p.Pro289=) | |
1 | g.196996089C>G | CA422802881 | CFHR5 | c.603C>G (p.Pro201=) n.927C>G c.-24-25C>G (n.-24-25C>G) c.858C>G (p.Pro286=) c.867C>G (p.Pro289=) | |
1 | g.196996089C>T | CA422802882 | CFHR5 | c.603C>T (p.Pro201=) n.927C>T c.-24-25C>T (n.-24-25C>T) c.858C>T (p.Pro286=) c.867C>T (p.Pro289=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996090T>A | CA344005652 | CFHR5 | c.604T>A (p.Tyr202Asn) n.928T>A c.-24-24T>A (n.-24-24T>A) c.859T>A (p.Tyr287Asn) c.868T>A (p.Tyr290Asn) | |
1 | g.196996090T>C | CA344005653 | CFHR5 | c.604T>C (p.Tyr202His) n.928T>C c.-24-24T>C (n.-24-24T>C) c.859T>C (p.Tyr287His) c.868T>C (p.Tyr290His) | gnomAD v4 |
1 | g.196996090T>G | CA344005655 | CFHR5 | c.604T>G (p.Tyr202Asp) n.928T>G c.-24-24T>G (n.-24-24T>G) c.859T>G (p.Tyr287Asp) c.868T>G (p.Tyr290Asp) | |
1 | g.196996091A>C | CA344005662 | CFHR5 | c.605A>C (p.Tyr202Ser) n.929A>C c.-24-23A>C (n.-24-23A>C) c.860A>C (p.Tyr287Ser) c.869A>C (p.Tyr290Ser) | |
1 | g.196996091A>G | CA344005660 | CFHR5 | c.605A>G (p.Tyr202Cys) n.929A>G c.-24-23A>G (n.-24-23A>G) c.860A>G (p.Tyr287Cys) c.869A>G (p.Tyr290Cys) | |
1 | g.196996091A>T | CA344005661 | CFHR5 | c.605A>T (p.Tyr202Phe) n.929A>T c.-24-23A>T (n.-24-23A>T) c.860A>T (p.Tyr287Phe) c.869A>T (p.Tyr290Phe) | |
1 | g.196996092T>A | CA344005665 | CFHR5 | c.606T>A (p.Tyr202Ter) n.930T>A c.-24-22T>A (n.-24-22T>A) c.861T>A (p.Tyr287Ter) c.870T>A (p.Tyr290Ter) | |
1 | g.196996092T>C | CA1307898 | CFHR5 | c.606T>C (p.Tyr202=) n.930T>C c.-24-22T>C (n.-24-22T>C) c.861T>C (p.Tyr287=) c.870T>C (p.Tyr290=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996092T>G | CA344005669 | CFHR5 | c.606T>G (p.Tyr202Ter) n.930T>G c.-24-22T>G (n.-24-22T>G) c.861T>G (p.Tyr287Ter) c.870T>G (p.Tyr290Ter) | gnomAD v4 COSMIC COSMIC |
1 | g.196996092T= | CA1217885184 | CFHR5 | c.606T= (p.Tyr202=) n.930T= c.-24-22T= (n.-24-22T=) c.861T= (p.Tyr287=) c.870T= (p.Tyr290=) | |
1 | g.196996093C>A | CA344005672 | CFHR5 | c.607C>A (p.Gln203Lys) n.931C>A c.-24-21C>A (n.-24-21C>A) c.862C>A (p.Gln288Lys) c.871C>A (p.Gln291Lys) | |
1 | g.196996093C= | CA1217885185 | CFHR5 | c.607C= (p.Gln203=) n.931C= c.-24-21C= (n.-24-21C=) c.862C= (p.Gln288=) c.871C= (p.Gln291=) | |
1 | g.196996093C>G | CA344005683 | CFHR5 | c.607C>G (p.Gln203Glu) n.931C>G c.-24-21C>G (n.-24-21C>G) c.862C>G (p.Gln288Glu) c.871C>G (p.Gln291Glu) | dbSNP |
1 | g.196996093C>T | CA344005687 | CFHR5 | c.607C>T (p.Gln203Ter) n.931C>T c.-24-21C>T (n.-24-21C>T) c.862C>T (p.Gln288Ter) c.871C>T (p.Gln291Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.196996094A>C | CA344005700 | CFHR5 | c.608A>C (p.Gln203Pro) n.932A>C c.-24-20A>C (n.-24-20A>C) c.863A>C (p.Gln288Pro) c.872A>C (p.Gln291Pro) | |
1 | g.196996094A>G | CA344005702 | CFHR5 | c.608A>G (p.Gln203Arg) n.932A>G c.-24-20A>G (n.-24-20A>G) c.863A>G (p.Gln288Arg) c.872A>G (p.Gln291Arg) | |
1 | g.196996094A>T | CA344005703 | CFHR5 | c.608A>T (p.Gln203Leu) n.932A>T c.-24-20A>T (n.-24-20A>T) c.863A>T (p.Gln288Leu) c.872A>T (p.Gln291Leu) | |
1 | g.196996095A= | CA1217885186 | CFHR5 | c.609A= (p.Gln203=) n.933A= c.-24-19A= (n.-24-19A=) c.864A= (p.Gln288=) c.873A= (p.Gln291=) | |
1 | g.196996095A>C | CA344005707 | CFHR5 | c.609A>C (p.Gln203His) n.933A>C c.-24-19A>C (n.-24-19A>C) c.864A>C (p.Gln288His) c.873A>C (p.Gln291His) | |
1 | g.196996095A>G | CA422802889 | CFHR5 | c.609A>G (p.Gln203=) n.933A>G c.-24-19A>G (n.-24-19A>G) c.864A>G (p.Gln288=) c.873A>G (p.Gln291=) | dbSNP |
1 | g.196996095A>T | CA344005709 | CFHR5 | c.609A>T (p.Gln203His) n.933A>T c.-24-19A>T (n.-24-19A>T) c.864A>T (p.Gln288His) c.873A>T (p.Gln291His) | |
1 | g.196996096C>A | CA344005715 | CFHR5 | c.610C>A (p.His204Asn) n.934C>A c.-24-18C>A (n.-24-18C>A) c.865C>A (p.His289Asn) c.874C>A (p.His292Asn) | |
1 | g.196996096C= | CA1217885187 | CFHR5 | c.610C= (p.His204=) n.934C= c.-24-18C= (n.-24-18C=) c.865C= (p.His289=) c.874C= (p.His292=) | |
1 | g.196996096C>G | CA1307899 | CFHR5 | c.610C>G (p.His204Asp) n.934C>G c.-24-18C>G (n.-24-18C>G) c.865C>G (p.His289Asp) c.874C>G (p.His292Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996096C>T | CA344005713 | CFHR5 | c.610C>T (p.His204Tyr) n.934C>T c.-24-18C>T (n.-24-18C>T) c.865C>T (p.His289Tyr) c.874C>T (p.His292Tyr) | dbSNP |
1 | g.196996097A= | CA1148397617 | CFHR5 | c.611A= (p.His204=) n.935A= c.-24-17A= (n.-24-17A=) c.866A= (p.His289=) c.875A= (p.His292=) | |
1 | g.196996097A>C | CA344005724 | CFHR5 | c.611A>C (p.His204Pro) n.935A>C c.-24-17A>C (n.-24-17A>C) c.866A>C (p.His289Pro) c.875A>C (p.His292Pro) | |
1 | g.196996097A>G | CA1307900 | CFHR5 | c.611A>G (p.His204Arg) n.935A>G c.-24-17A>G (n.-24-17A>G) c.866A>G (p.His289Arg) c.875A>G (p.His292Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.196996097A>T | CA344005722 | CFHR5 | c.611A>T (p.His204Leu) n.935A>T c.-24-17A>T (n.-24-17A>T) c.866A>T (p.His289Leu) c.875A>T (p.His292Leu) | |
1 | g.196996098T>A | CA344005728 | CFHR5 | c.612T>A (p.His204Gln) n.936T>A c.-24-16T>A (n.-24-16T>A) c.867T>A (p.His289Gln) c.876T>A (p.His292Gln) | |
1 | g.196996098T>C | CA422668240 | CFHR5 | c.612T>C (p.His204=) n.936T>C c.-24-16T>C (n.-24-16T>C) c.867T>C (p.His289=) c.876T>C (p.His292=) | |
1 | g.196996098T>G | CA344005729 | CFHR5 | c.612T>G (p.His204Gln) n.936T>G c.-24-16T>G (n.-24-16T>G) c.867T>G (p.His289Gln) c.876T>G (p.His292Gln) |