Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108621799A>G | CA2694440149 | COL4A5 | c.2678-4A>G (n.2678-4A>G) n.2134-4A>G c.2354-4A>G (n.2354-4A>G) c.251-4A>G (n.251-4A>G) c.2693-4A>G (n.2693-4A>G) c.1013-4A>G (n.1013-4A>G) | gnomAD v4 |
X | g.108621799A>T | CA2694440150 | COL4A5 | c.2678-4A>T (n.2678-4A>T) n.2134-4A>T c.2354-4A>T (n.2354-4A>T) c.251-4A>T (n.251-4A>T) c.2693-4A>T (n.2693-4A>T) c.1013-4A>T (n.1013-4A>T) | gnomAD v4 |
X | g.108621800A>G | CA2739290538 | COL4A5 | c.2678-3A>G (n.2678-3A>G) n.2134-3A>G c.2354-3A>G (n.2354-3A>G) c.251-3A>G (n.251-3A>G) c.2693-3A>G (n.2693-3A>G) c.1013-3A>G (n.1013-3A>G) | |
X | g.108621801A>C | CA413851827 | COL4A5 | c.2678-2A>C (n.2678-2A>C) n.2134-2A>C c.2354-2A>C (n.2354-2A>C) c.251-2A>C (n.251-2A>C) c.2693-2A>C (n.2693-2A>C) c.1013-2A>C (n.1013-2A>C) | gnomAD v4 |
X | g.108621801A>G | CA413851829 | COL4A5 | c.2678-2A>G (n.2678-2A>G) n.2134-2A>G c.2354-2A>G (n.2354-2A>G) c.251-2A>G (n.251-2A>G) c.2693-2A>G (n.2693-2A>G) c.1013-2A>G (n.1013-2A>G) | |
X | g.108621801A>T | CA413851831 | COL4A5 | c.2678-2A>T (n.2678-2A>T) n.2134-2A>T c.2354-2A>T (n.2354-2A>T) c.251-2A>T (n.251-2A>T) c.2693-2A>T (n.2693-2A>T) c.1013-2A>T (n.1013-2A>T) | |
X | g.108621802G>A | CA413851833 | COL4A5 | c.2678-1G>A (n.2678-1G>A) n.2134-1G>A c.2354-1G>A (n.2354-1G>A) c.251-1G>A (n.251-1G>A) c.2693-1G>A (n.2693-1G>A) c.1013-1G>A (n.1013-1G>A) | COSMIC COSMIC |
X | g.108621802G>C | CA413851837 | COL4A5 | c.2678-1G>C (n.2678-1G>C) n.2134-1G>C c.2354-1G>C (n.2354-1G>C) c.251-1G>C (n.251-1G>C) c.2693-1G>C (n.2693-1G>C) c.1013-1G>C (n.1013-1G>C) | |
X | g.108621802G>T | CA413851835 | COL4A5 | c.2678-1G>T (n.2678-1G>T) n.2134-1G>T c.2354-1G>T (n.2354-1G>T) c.251-1G>T (n.251-1G>T) c.2693-1G>T (n.2693-1G>T) c.1013-1G>T (n.1013-1G>T) | ClinVar |
X | g.108621803G>A | CA413851839 | COL4A5 | c.2678G>A (p.Gly893Asp) n.2134G>A c.2354G>A (p.Gly785Asp) c.251G>A (p.Gly84Asp) c.2693G>A (p.Gly898Asp) c.1013G>A (p.Gly338Asp) | ClinVar gnomAD v4 |
X | g.108621803G>C | CA413851841 | COL4A5 | c.2678G>C (p.Gly893Ala) n.2134G>C c.2354G>C (p.Gly785Ala) c.251G>C (p.Gly84Ala) c.2693G>C (p.Gly898Ala) c.1013G>C (p.Gly338Ala) | ClinVar dbSNP |
X | g.108621803G= | CA2450696558 | COL4A5 | c.2678G= (p.Gly893=) n.2134G= c.2354G= (p.Gly785=) c.251G= (p.Gly84=) c.2693G= (p.Gly898=) c.1013G= (p.Gly338=) | |
X | g.108621803G>T | CA261082 | COL4A5 | c.2678G>T (p.Gly893Val) n.2134G>T c.2354G>T (p.Gly785Val) c.251G>T (p.Gly84Val) c.2693G>T (p.Gly898Val) c.1013G>T (p.Gly338Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108621804T>A | CA517924355 | COL4A5 | c.2679T>A (p.Gly893=) n.2135T>A c.2355T>A (p.Gly785=) c.252T>A (p.Gly84=) c.2694T>A (p.Gly898=) c.1014T>A (p.Gly338=) | |
X | g.108621804T>C | CA10488965 | COL4A5 | c.2679T>C (p.Gly893=) n.2135T>C c.2355T>C (p.Gly785=) c.252T>C (p.Gly84=) c.2694T>C (p.Gly898=) c.1014T>C (p.Gly338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108621804T>G | CA517924358 | COL4A5 | c.2679T>G (p.Gly893=) n.2135T>G c.2355T>G (p.Gly785=) c.252T>G (p.Gly84=) c.2694T>G (p.Gly898=) c.1014T>G (p.Gly338=) | |
X | g.108621804T= | CA2450696559 | COL4A5 | c.2679T= (p.Gly893=) n.2135T= c.2355T= (p.Gly785=) c.252T= (p.Gly84=) c.2694T= (p.Gly898=) c.1014T= (p.Gly338=) | |
X | g.108621805A= | CA2450696560 | COL4A5 | c.2680A= (p.Thr894=) n.2136A= c.2356A= (p.Thr786=) c.253A= (p.Thr85=) c.2695A= (p.Thr899=) c.1015A= (p.Thr339=) | |
X | g.108621805A>C | CA413851845 | COL4A5 | c.2680A>C (p.Thr894Pro) n.2136A>C c.2356A>C (p.Thr786Pro) c.253A>C (p.Thr85Pro) c.2695A>C (p.Thr899Pro) c.1015A>C (p.Thr339Pro) | |
X | g.108621805A>G | CA413851847 | COL4A5 | c.2680A>G (p.Thr894Ala) n.2136A>G c.2356A>G (p.Thr786Ala) c.253A>G (p.Thr85Ala) c.2695A>G (p.Thr899Ala) c.1015A>G (p.Thr339Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108621805A>T | CA413851849 | COL4A5 | c.2680A>T (p.Thr894Ser) n.2136A>T c.2356A>T (p.Thr786Ser) c.253A>T (p.Thr85Ser) c.2695A>T (p.Thr899Ser) c.1015A>T (p.Thr339Ser) | |
X | g.108621806C>A | CA413851851 | COL4A5 | c.2681C>A (p.Thr894Asn) n.2137C>A c.2357C>A (p.Thr786Asn) c.254C>A (p.Thr85Asn) c.2696C>A (p.Thr899Asn) c.1016C>A (p.Thr339Asn) | gnomAD v4 |
X | g.108621806C= | CA2450696561 | COL4A5 | c.2681C= (p.Thr894=) n.2137C= c.2357C= (p.Thr786=) c.254C= (p.Thr85=) c.2696C= (p.Thr899=) c.1016C= (p.Thr339=) | |
X | g.108621806C>G | CA413851853 | COL4A5 | c.2681C>G (p.Thr894Ser) n.2137C>G c.2357C>G (p.Thr786Ser) c.254C>G (p.Thr85Ser) c.2696C>G (p.Thr899Ser) c.1016C>G (p.Thr339Ser) | |
X | g.108621806C>T | CA10488966 | COL4A5 | c.2681C>T (p.Thr894Ile) n.2137C>T c.2357C>T (p.Thr786Ile) c.254C>T (p.Thr85Ile) c.2696C>T (p.Thr899Ile) c.1016C>T (p.Thr339Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108621807C>A | CA517924360 | COL4A5 | c.2682C>A (p.Thr894=) n.2138C>A c.2358C>A (p.Thr786=) c.255C>A (p.Thr85=) c.2697C>A (p.Thr899=) c.1017C>A (p.Thr339=) | ClinVar dbSNP gnomAD v2 |
X | g.108621807C= | CA2450696562 | COL4A5 | c.2682C= (p.Thr894=) n.2138C= c.2358C= (p.Thr786=) c.255C= (p.Thr85=) c.2697C= (p.Thr899=) c.1017C= (p.Thr339=) | |
X | g.108621807C>G | CA517924361 | COL4A5 | c.2682C>G (p.Thr894=) n.2138C>G c.2358C>G (p.Thr786=) c.255C>G (p.Thr85=) c.2697C>G (p.Thr899=) c.1017C>G (p.Thr339=) | |
X | g.108621807C>T | CA517924363 | COL4A5 | c.2682C>T (p.Thr894=) n.2138C>T c.2358C>T (p.Thr786=) c.255C>T (p.Thr85=) c.2697C>T (p.Thr899=) c.1017C>T (p.Thr339=) | |
X | g.108621808A>C | CA413851856 | COL4A5 | c.2683A>C (p.Lys895Gln) n.2139A>C c.2359A>C (p.Lys787Gln) c.256A>C (p.Lys86Gln) c.2698A>C (p.Lys900Gln) c.1018A>C (p.Lys340Gln) | |
X | g.108621808A>G | CA413851858 | COL4A5 | c.2683A>G (p.Lys895Glu) n.2139A>G c.2359A>G (p.Lys787Glu) c.256A>G (p.Lys86Glu) c.2698A>G (p.Lys900Glu) c.1018A>G (p.Lys340Glu) | |
X | g.108621808A>T | CA413851859 | COL4A5 | c.2683A>T (p.Lys895Ter) n.2139A>T c.2359A>T (p.Lys787Ter) c.256A>T (p.Lys86Ter) c.2698A>T (p.Lys900Ter) c.1018A>T (p.Lys340Ter) | ClinVar |
X | g.108621810del | CA2579676556 | COL4A5 | c.2685del (p.Gly896ValfsTer5) n.2141del c.2361del (p.Gly788ValfsTer5) c.258del (p.Gly87ValfsTer5) c.2700del (p.Gly901ValfsTer5) c.1020del (p.Gly341ValfsTer5) | |
X | g.108621809A>C | CA413851865 | COL4A5 | c.2684A>C (p.Lys895Thr) n.2140A>C c.2360A>C (p.Lys787Thr) c.257A>C (p.Lys86Thr) c.2699A>C (p.Lys900Thr) c.1019A>C (p.Lys340Thr) | |
X | g.108621809A>G | CA413851862 | COL4A5 | c.2684A>G (p.Lys895Arg) n.2140A>G c.2360A>G (p.Lys787Arg) c.257A>G (p.Lys86Arg) c.2699A>G (p.Lys900Arg) c.1019A>G (p.Lys340Arg) | |
X | g.108621809A>T | CA413851863 | COL4A5 | c.2684A>T (p.Lys895Ile) n.2140A>T c.2360A>T (p.Lys787Ile) c.257A>T (p.Lys86Ile) c.2699A>T (p.Lys900Ile) c.1019A>T (p.Lys340Ile) | |
X | g.108621810A>C | CA413851868 | COL4A5 | c.2685A>C (p.Lys895Asn) n.2141A>C c.2361A>C (p.Lys787Asn) c.258A>C (p.Lys86Asn) c.2700A>C (p.Lys900Asn) c.1020A>C (p.Lys340Asn) | |
X | g.108621810A>G | CA517924366 | COL4A5 | c.2685A>G (p.Lys895=) n.2141A>G c.2361A>G (p.Lys787=) c.258A>G (p.Lys86=) c.2700A>G (p.Lys900=) c.1020A>G (p.Lys340=) | |
X | g.108621810A>T | CA413851869 | COL4A5 | c.2685A>T (p.Lys895Asn) n.2141A>T c.2361A>T (p.Lys787Asn) c.258A>T (p.Lys86Asn) c.2700A>T (p.Lys900Asn) c.1020A>T (p.Lys340Asn) | |
X | g.108621810_108621811delinsAG | CA2450696563 | COL4A5 | c.2685_2686delinsAG (p.Lys895=) n.2141_2142delinsAG c.2361_2362delinsAG (p.Lys787=) c.258_259delinsAG (p.Lys86=) c.2700_2701delinsAG (p.Lys900=) c.1020_1021delinsAG (p.Lys340=) | |
X | g.108621811G>A | CA413851871 | COL4A5 | c.2686G>A (p.Gly896Ser) n.2142G>A c.2362G>A (p.Gly788Ser) c.259G>A (p.Gly87Ser) c.2701G>A (p.Gly901Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP |
X | g.108621811G>C | CA413851873 | COL4A5 | c.2686G>C (p.Gly896Arg) n.2142G>C c.2362G>C (p.Gly788Arg) c.259G>C (p.Gly87Arg) c.2701G>C (p.Gly901Arg) c.1021G>C (p.Gly341Arg) | dbSNP |
X | g.108621811G= | CA2450696564 | COL4A5 | c.2686G= (p.Gly896=) n.2142G= c.2362G= (p.Gly788=) c.259G= (p.Gly87=) c.2701G= (p.Gly901=) c.1021G= (p.Gly341=) | |
X | g.108621811G>T | CA413851875 | COL4A5 | c.2686G>T (p.Gly896Cys) n.2142G>T c.2362G>T (p.Gly788Cys) c.259G>T (p.Gly87Cys) c.2701G>T (p.Gly901Cys) c.1021G>T (p.Gly341Cys) | |
X | g.108621812del | CA258738 | COL4A5 | c.2687del (p.Gly896ValfsTer5) n.2143del c.2363del (p.Gly788ValfsTer5) c.260del (p.Gly87ValfsTer5) c.2702del (p.Gly901ValfsTer5) c.1022del (p.Gly341ValfsTer5) | dbSNP |
X | g.108621812G>A | CA413851879 | COL4A5 | c.2687G>A (p.Gly896Asp) n.2143G>A c.2363G>A (p.Gly788Asp) c.260G>A (p.Gly87Asp) c.2702G>A (p.Gly901Asp) c.1022G>A (p.Gly341Asp) | |
X | g.108621812G>C | CA413851880 | COL4A5 | c.2687G>C (p.Gly896Ala) n.2143G>C c.2363G>C (p.Gly788Ala) c.260G>C (p.Gly87Ala) c.2702G>C (p.Gly901Ala) c.1022G>C (p.Gly341Ala) | |
X | g.108621812G>T | CA413851882 | COL4A5 | c.2687G>T (p.Gly896Val) n.2143G>T c.2363G>T (p.Gly788Val) c.260G>T (p.Gly87Val) c.2702G>T (p.Gly901Val) c.1022G>T (p.Gly341Val) | ClinVar |
X | g.108621813T>A | CA517924367 | COL4A5 | c.2688T>A (p.Gly896=) n.2144T>A c.2364T>A (p.Gly788=) c.261T>A (p.Gly87=) c.2703T>A (p.Gly901=) c.1023T>A (p.Gly341=) | |
X | g.108621813T>C | CA517924368 | COL4A5 | c.2688T>C (p.Gly896=) n.2144T>C c.2364T>C (p.Gly788=) c.261T>C (p.Gly87=) c.2703T>C (p.Gly901=) c.1023T>C (p.Gly341=) | |
X | g.108621813T>G | CA517924369 | COL4A5 | c.2688T>G (p.Gly896=) n.2144T>G c.2364T>G (p.Gly788=) c.261T>G (p.Gly87=) c.2703T>G (p.Gly901=) c.1023T>G (p.Gly341=) | |
X | g.108621815_108621819del | CA2695235220 | COL4A5 | c.2690_2694del (p.Glu897GlyfsTer24) n.2146_2150del c.2366_2370del (p.Glu789GlyfsTer24) c.263_267del (p.Glu88GlyfsTer24) c.2705_2709del (p.Glu902GlyfsTer24) c.1025_1029del (p.Glu342GlyfsTer24) | |
X | g.108621814G>A | CA413851883 | COL4A5 | c.2689G>A (p.Glu897Lys) n.2145G>A c.2365G>A (p.Glu789Lys) c.262G>A (p.Glu88Lys) c.2704G>A (p.Glu902Lys) c.1024G>A (p.Glu342Lys) | |
X | g.108621814G>C | CA413851884 | COL4A5 | c.2689G>C (p.Glu897Gln) n.2145G>C c.2365G>C (p.Glu789Gln) c.262G>C (p.Glu88Gln) c.2704G>C (p.Glu902Gln) c.1024G>C (p.Glu342Gln) | |
X | g.108621814G>T | CA413851885 | COL4A5 | c.2689G>T (p.Glu897Ter) n.2145G>T c.2365G>T (p.Glu789Ter) c.262G>T (p.Glu88Ter) c.2704G>T (p.Glu902Ter) c.1024G>T (p.Glu342Ter) | |
X | g.108621815A= | CA2450696565 | COL4A5 | c.2690A= (p.Glu897=) n.2146A= c.2366A= (p.Glu789=) c.263A= (p.Glu88=) c.2705A= (p.Glu902=) c.1025A= (p.Glu342=) | |
X | g.108621815A>C | CA413851890 | COL4A5 | c.2690A>C (p.Glu897Ala) n.2146A>C c.2366A>C (p.Glu789Ala) c.263A>C (p.Glu88Ala) c.2705A>C (p.Glu902Ala) c.1025A>C (p.Glu342Ala) | dbSNP |
X | g.108621815A>G | CA413851888 | COL4A5 | c.2690A>G (p.Glu897Gly) n.2146A>G c.2366A>G (p.Glu789Gly) c.263A>G (p.Glu88Gly) c.2705A>G (p.Glu902Gly) c.1025A>G (p.Glu342Gly) | |
X | g.108621815A>T | CA413851886 | COL4A5 | c.2690A>T (p.Glu897Val) n.2146A>T c.2366A>T (p.Glu789Val) c.263A>T (p.Glu88Val) c.2705A>T (p.Glu902Val) c.1025A>T (p.Glu342Val) | |
X | g.108621817dup | CA2839483116 | COL4A5 | c.2692dup (p.Met898AsnfsTer25) n.2148dup c.2368dup (p.Met790AsnfsTer25) c.265dup (p.Met89AsnfsTer25) c.2707dup (p.Met903AsnfsTer25) c.1027dup (p.Met343AsnfsTer25) | |
X | g.108621817del | CA645606858 | COL4A5 | c.2692del (p.Met898TrpfsTer3) n.2148del c.2368del (p.Met790TrpfsTer3) c.265del (p.Met89TrpfsTer3) c.2707del (p.Met903TrpfsTer3) c.1027del (p.Met343TrpfsTer3) | COSMIC COSMIC |
X | g.108621815_108621816insTC | CA2695235221 | COL4A5 | c.2690_2691insTC (p.Glu897AspfsTer5) n.2146_2147insTC c.2366_2367insTC (p.Glu789AspfsTer5) c.263_264insTC (p.Glu88AspfsTer5) c.2705_2706insTC (p.Glu902AspfsTer5) c.1025_1026insTC (p.Glu342AspfsTer5) | |
X | g.108621816A>C | CA413851894 | COL4A5 | c.2691A>C (p.Glu897Asp) n.2147A>C c.2367A>C (p.Glu789Asp) c.264A>C (p.Glu88Asp) c.2706A>C (p.Glu902Asp) c.1026A>C (p.Glu342Asp) | |
X | g.108621816A>G | CA517924371 | COL4A5 | c.2691A>G (p.Glu897=) n.2147A>G c.2367A>G (p.Glu789=) c.264A>G (p.Glu88=) c.2706A>G (p.Glu902=) c.1026A>G (p.Glu342=) | |
X | g.108621816A>T | CA413851892 | COL4A5 | c.2691A>T (p.Glu897Asp) n.2147A>T c.2367A>T (p.Glu789Asp) c.264A>T (p.Glu88Asp) c.2706A>T (p.Glu902Asp) c.1026A>T (p.Glu342Asp) | |
X | g.108621817A= | CA2450696566 | COL4A5 | c.2692A= (p.Met898=) n.2148A= c.2368A= (p.Met790=) c.265A= (p.Met89=) c.2707A= (p.Met903=) c.1027A= (p.Met343=) | |
X | g.108621817A>C | CA413851897 | COL4A5 | c.2692A>C (p.Met898Leu) n.2148A>C c.2368A>C (p.Met790Leu) c.265A>C (p.Met89Leu) c.2707A>C (p.Met903Leu) c.1027A>C (p.Met343Leu) | |
X | g.108621817A>G | CA258739 | COL4A5 | c.2692A>G (p.Met898Val) n.2148A>G c.2368A>G (p.Met790Val) c.265A>G (p.Met89Val) c.2707A>G (p.Met903Val) c.1027A>G (p.Met343Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108621817A>T | CA413851899 | COL4A5 | c.2692A>T (p.Met898Leu) n.2148A>T c.2368A>T (p.Met790Leu) c.265A>T (p.Met89Leu) c.2707A>T (p.Met903Leu) c.1027A>T (p.Met343Leu) | |
X | g.108621818T>A | CA413851901 | COL4A5 | c.2693T>A (p.Met898Lys) n.2149T>A c.2369T>A (p.Met790Lys) c.266T>A (p.Met89Lys) c.2708T>A (p.Met903Lys) c.1028T>A (p.Met343Lys) | |
X | g.108621818T>C | CA413851905 | COL4A5 | c.2693T>C (p.Met898Thr) n.2149T>C c.2369T>C (p.Met790Thr) c.266T>C (p.Met89Thr) c.2708T>C (p.Met903Thr) c.1028T>C (p.Met343Thr) | gnomAD v4 |
X | g.108621818T>G | CA413851903 | COL4A5 | c.2693T>G (p.Met898Arg) n.2149T>G c.2369T>G (p.Met790Arg) c.266T>G (p.Met89Arg) c.2708T>G (p.Met903Arg) c.1028T>G (p.Met343Arg) | |
X | g.108621818_108621822del | CA2580100195 | COL4A5 | c.2693_2697del (p.Met898AsnfsTer23) n.2149_2153del c.2369_2373del (p.Met790AsnfsTer23) c.266_270del (p.Met89AsnfsTer23) c.2708_2712del (p.Met903AsnfsTer23) c.1028_1032del (p.Met343AsnfsTer23) | ClinVar |
X | g.108621818_108621828delinsTGGGTATGATG | CA2450696567 | COL4A5 | c.2693_2703delinsTGGGTATGATG (p.Met898=) n.2149_2159delinsTGGGTATGATG c.2369_2379delinsTGGGTATGATG (p.Met790=) c.266_276delinsTGGGTATGATG (p.Met89=) c.2708_2718delinsTGGGTATGATG (p.Met903=) c.1028_1038delinsTGGGTATGATG (p.Met343=) | |
X | g.108621819G>A | CA413851907 | COL4A5 | c.2694G>A (p.Met898Ile) n.2150G>A c.2370G>A (p.Met790Ile) c.267G>A (p.Met89Ile) c.2709G>A (p.Met903Ile) c.1029G>A (p.Met343Ile) | |
X | g.108621819G>C | CA413851910 | COL4A5 | c.2694G>C (p.Met898Ile) n.2150G>C c.2370G>C (p.Met790Ile) c.267G>C (p.Met89Ile) c.2709G>C (p.Met903Ile) c.1029G>C (p.Met343Ile) | |
X | g.108621819G>T | CA413851911 | COL4A5 | c.2694G>T (p.Met898Ile) n.2150G>T c.2370G>T (p.Met790Ile) c.267G>T (p.Met89Ile) c.2709G>T (p.Met903Ile) c.1029G>T (p.Met343Ile) | |
X | g.108621821del | CA2579676557 | COL4A5 | c.2696del (p.Gly899ValfsTer2) n.2152del c.2372del (p.Gly791ValfsTer2) c.269del (p.Gly90ValfsTer2) c.2711del (p.Gly904ValfsTer2) c.1031del (p.Gly344ValfsTer2) | |
X | g.108621821_108621830del | CA261085 | COL4A5 | c.2696_2705del (p.Gly899AspfsTer?) n.2152_2161del c.2372_2381del (p.Gly791AspfsTer?) c.269_278del (p.Gly90AspfsTer?) c.2711_2720del (p.Gly904AspfsTer?) c.1031_1040del (p.Gly344AspfsTer?) | dbSNP |
X | g.108621820G>A | CA413851913 | COL4A5 | c.2695G>A (p.Gly899Ser) n.2151G>A c.2371G>A (p.Gly791Ser) c.268G>A (p.Gly90Ser) c.2710G>A (p.Gly904Ser) c.1030G>A (p.Gly344Ser) | ClinVar dbSNP |
X | g.108621820G>C | CA413851915 | COL4A5 | c.2695G>C (p.Gly899Arg) n.2151G>C c.2371G>C (p.Gly791Arg) c.268G>C (p.Gly90Arg) c.2710G>C (p.Gly904Arg) c.1030G>C (p.Gly344Arg) | |
X | g.108621820G= | CA2450696568 | COL4A5 | c.2695G= (p.Gly899=) n.2151G= c.2371G= (p.Gly791=) c.268G= (p.Gly90=) c.2710G= (p.Gly904=) c.1030G= (p.Gly344=) | |
X | g.108621820G>T | CA413851916 | COL4A5 | c.2695G>T (p.Gly899Cys) n.2151G>T c.2371G>T (p.Gly791Cys) c.268G>T (p.Gly90Cys) c.2710G>T (p.Gly904Cys) c.1030G>T (p.Gly344Cys) | gnomAD v4 |
X | g.108621821G>A | CA413851918 | COL4A5 | c.2696G>A (p.Gly899Asp) n.2152G>A c.2372G>A (p.Gly791Asp) c.269G>A (p.Gly90Asp) c.2711G>A (p.Gly904Asp) c.1031G>A (p.Gly344Asp) | ClinVar dbSNP |
X | g.108621821G>C | CA413851920 | COL4A5 | c.2696G>C (p.Gly899Ala) n.2152G>C c.2372G>C (p.Gly791Ala) c.269G>C (p.Gly90Ala) c.2711G>C (p.Gly904Ala) c.1031G>C (p.Gly344Ala) | |
X | g.108621821G= | CA2450696569 | COL4A5 | c.2696G= (p.Gly899=) n.2152G= c.2372G= (p.Gly791=) c.269G= (p.Gly90=) c.2711G= (p.Gly904=) c.1031G= (p.Gly344=) | |
X | g.108621821G>T | CA261086 | COL4A5 | c.2696G>T (p.Gly899Val) n.2152G>T c.2372G>T (p.Gly791Val) c.269G>T (p.Gly90Val) c.2711G>T (p.Gly904Val) c.1031G>T (p.Gly344Val) | dbSNP |
X | g.108621822T>A | CA517924381 | COL4A5 | c.2697T>A (p.Gly899=) n.2153T>A c.2373T>A (p.Gly791=) c.270T>A (p.Gly90=) c.2712T>A (p.Gly904=) c.1032T>A (p.Gly344=) | |
X | g.108621822T>C | CA517924380 | COL4A5 | c.2697T>C (p.Gly899=) n.2153T>C c.2373T>C (p.Gly791=) c.270T>C (p.Gly90=) c.2712T>C (p.Gly904=) c.1032T>C (p.Gly344=) | |
X | g.108621822T>G | CA517924382 | COL4A5 | c.2697T>G (p.Gly899=) n.2153T>G c.2373T>G (p.Gly791=) c.270T>G (p.Gly90=) c.2712T>G (p.Gly904=) c.1032T>G (p.Gly344=) | |
X | g.108621823A= | CA2450696570 | COL4A5 | c.2698A= (p.Met900=) n.2154A= c.2374A= (p.Met792=) c.271A= (p.Met91=) c.2713A= (p.Met905=) c.1033A= (p.Met345=) | |
X | g.108621823A>C | CA413851926 | COL4A5 | c.2698A>C (p.Met900Leu) n.2154A>C c.2374A>C (p.Met792Leu) c.271A>C (p.Met91Leu) c.2713A>C (p.Met905Leu) c.1033A>C (p.Met345Leu) | |
X | g.108621823A>G | CA413851928 | COL4A5 | c.2698A>G (p.Met900Val) n.2154A>G c.2374A>G (p.Met792Val) c.271A>G (p.Met91Val) c.2713A>G (p.Met905Val) c.1033A>G (p.Met345Val) | |
X | g.108621823A>T | CA413851930 | COL4A5 | c.2698A>T (p.Met900Leu) n.2154A>T c.2374A>T (p.Met792Leu) c.271A>T (p.Met91Leu) c.2713A>T (p.Met905Leu) c.1033A>T (p.Met345Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108621824T>A | CA413851931 | COL4A5 | c.2699T>A (p.Met900Lys) n.2155T>A c.2375T>A (p.Met792Lys) c.272T>A (p.Met91Lys) c.2714T>A (p.Met905Lys) c.1034T>A (p.Met345Lys) | |
X | g.108621824T>C | CA413851935 | COL4A5 | c.2699T>C (p.Met900Thr) n.2155T>C c.2375T>C (p.Met792Thr) c.272T>C (p.Met91Thr) c.2714T>C (p.Met905Thr) c.1034T>C (p.Met345Thr) | |
X | g.108621824T>G | CA413851936 | COL4A5 | c.2699T>G (p.Met900Arg) n.2155T>G c.2375T>G (p.Met792Arg) c.272T>G (p.Met91Arg) c.2714T>G (p.Met905Arg) c.1034T>G (p.Met345Arg) | |
X | g.108621825G>A | CA413851943 | COL4A5 | c.2700G>A (p.Met900Ile) n.2156G>A c.2376G>A (p.Met792Ile) c.273G>A (p.Met91Ile) c.2715G>A (p.Met905Ile) c.1035G>A (p.Met345Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108621825G>C | CA413851940 | COL4A5 | c.2700G>C (p.Met900Ile) n.2156G>C c.2376G>C (p.Met792Ile) c.273G>C (p.Met91Ile) c.2715G>C (p.Met905Ile) c.1035G>C (p.Met345Ile) | |
X | g.108621825G= | CA2450696571 | COL4A5 | c.2700G= (p.Met900=) n.2156G= c.2376G= (p.Met792=) c.273G= (p.Met91=) c.2715G= (p.Met905=) c.1035G= (p.Met345=) | |
X | g.108621825G>T | CA413851942 | COL4A5 | c.2700G>T (p.Met900Ile) n.2156G>T c.2376G>T (p.Met792Ile) c.273G>T (p.Met91Ile) c.2715G>T (p.Met905Ile) c.1035G>T (p.Met345Ile) | |
X | g.108621826A>C | CA413851945 | COL4A5 | c.2701A>C (p.Met901Leu) n.2157A>C c.2377A>C (p.Met793Leu) c.274A>C (p.Met92Leu) c.2716A>C (p.Met906Leu) c.1036A>C (p.Met346Leu) | |
X | g.108621826A>G | CA413851946 | COL4A5 | c.2701A>G (p.Met901Val) n.2157A>G c.2377A>G (p.Met793Val) c.274A>G (p.Met92Val) c.2716A>G (p.Met906Val) c.1036A>G (p.Met346Val) | |
X | g.108621826A>T | CA413851947 | COL4A5 | c.2701A>T (p.Met901Leu) n.2157A>T c.2377A>T (p.Met793Leu) c.274A>T (p.Met92Leu) c.2716A>T (p.Met906Leu) c.1036A>T (p.Met346Leu) | |
X | g.108621827T>A | CA413851948 | COL4A5 | c.2702T>A (p.Met901Lys) n.2158T>A c.2378T>A (p.Met793Lys) c.275T>A (p.Met92Lys) c.2717T>A (p.Met906Lys) c.1037T>A (p.Met346Lys) | |
X | g.108621827T>C | CA413851949 | COL4A5 | c.2702T>C (p.Met901Thr) n.2158T>C c.2378T>C (p.Met793Thr) c.275T>C (p.Met92Thr) c.2717T>C (p.Met906Thr) c.1037T>C (p.Met346Thr) | |
X | g.108621827T>G | CA413851950 | COL4A5 | c.2702T>G (p.Met901Arg) n.2158T>G c.2378T>G (p.Met793Arg) c.275T>G (p.Met92Arg) c.2717T>G (p.Met906Arg) c.1037T>G (p.Met346Arg) | |
X | g.108621828G>A | CA413851952 | COL4A5 | c.2703G>A (p.Met901Ile) n.2159G>A c.2379G>A (p.Met793Ile) c.276G>A (p.Met92Ile) c.2718G>A (p.Met906Ile) c.1038G>A (p.Met346Ile) | |
X | g.108621828G>C | CA413851953 | COL4A5 | c.2703G>C (p.Met901Ile) n.2159G>C c.2379G>C (p.Met793Ile) c.276G>C (p.Met92Ile) c.2718G>C (p.Met906Ile) c.1038G>C (p.Met346Ile) | |
X | g.108621828G>T | CA413851957 | COL4A5 | c.2703G>T (p.Met901Ile) n.2159G>T c.2379G>T (p.Met793Ile) c.276G>T (p.Met92Ile) c.2718G>T (p.Met906Ile) c.1038G>T (p.Met346Ile) | |
X | g.108621829G>A | CA413851960 | COL4A5 | c.2704G>A (p.Gly902Arg) n.2160G>A c.2380G>A (p.Gly794Arg) c.277G>A (p.Gly93Arg) c.2719G>A (p.Gly907Arg) c.1039G>A (p.Gly347Arg) | |
X | g.108621829G>C | CA413851961 | COL4A5 | c.2704G>C (p.Gly902Arg) n.2160G>C c.2380G>C (p.Gly794Arg) c.277G>C (p.Gly93Arg) c.2719G>C (p.Gly907Arg) c.1039G>C (p.Gly347Arg) | |
X | g.108621829G>T | CA413851963 | COL4A5 | c.2704G>T (p.Gly902Ter) n.2160G>T c.2380G>T (p.Gly794Ter) c.277G>T (p.Gly93Ter) c.2719G>T (p.Gly907Ter) c.1039G>T (p.Gly347Ter) | |
X | g.108621830G>A | CA258741 | COL4A5 | c.2705G>A (p.Gly902Glu) n.2161G>A c.2381G>A (p.Gly794Glu) c.278G>A (p.Gly93Glu) c.2720G>A (p.Gly907Glu) c.1040G>A (p.Gly347Glu) | dbSNP |
X | g.108621830G>C | CA413851966 | COL4A5 | c.2705G>C (p.Gly902Ala) n.2161G>C c.2381G>C (p.Gly794Ala) c.278G>C (p.Gly93Ala) c.2720G>C (p.Gly907Ala) c.1040G>C (p.Gly347Ala) | |
X | g.108621830G= | CA2450696572 | COL4A5 | c.2705G= (p.Gly902=) n.2161G= c.2381G= (p.Gly794=) c.278G= (p.Gly93=) c.2720G= (p.Gly907=) c.1040G= (p.Gly347=) | |
X | g.108621830G>T | CA413851964 | COL4A5 | c.2705G>T (p.Gly902Val) n.2161G>T c.2381G>T (p.Gly794Val) c.278G>T (p.Gly93Val) c.2720G>T (p.Gly907Val) c.1040G>T (p.Gly347Val) | |
X | g.108621831A= | CA2450696573 | COL4A5 | c.2706A= (p.Gly902=) n.2162A= c.2382A= (p.Gly794=) c.279A= (p.Gly93=) c.2721A= (p.Gly907=) c.1041A= (p.Gly347=) | |
X | g.108621831A>C | CA517924395 | COL4A5 | c.2706A>C (p.Gly902=) n.2162A>C c.2382A>C (p.Gly794=) c.279A>C (p.Gly93=) c.2721A>C (p.Gly907=) c.1041A>C (p.Gly347=) | |
X | g.108621831A>G | CA517924396 | COL4A5 | c.2706A>G (p.Gly902=) n.2162A>G c.2382A>G (p.Gly794=) c.279A>G (p.Gly93=) c.2721A>G (p.Gly907=) c.1041A>G (p.Gly347=) | |
X | g.108621831A>T | CA517924394 | COL4A5 | c.2706A>T (p.Gly902=) n.2162A>T c.2382A>T (p.Gly794=) c.279A>T (p.Gly93=) c.2721A>T (p.Gly907=) c.1041A>T (p.Gly347=) | |
X | g.108621832C>A | CA413851968 | COL4A5 | c.2707C>A (p.Pro903Thr) n.2163C>A c.2383C>A (p.Pro795Thr) c.280C>A (p.Pro94Thr) c.2722C>A (p.Pro908Thr) c.1042C>A (p.Pro348Thr) | gnomAD v4 |
X | g.108621832C>G | CA413851970 | COL4A5 | c.2707C>G (p.Pro903Ala) n.2163C>G c.2383C>G (p.Pro795Ala) c.280C>G (p.Pro94Ala) c.2722C>G (p.Pro908Ala) c.1042C>G (p.Pro348Ala) | |
X | g.108621832C>T | CA413851972 | COL4A5 | c.2707C>T (p.Pro903Ser) n.2163C>T c.2383C>T (p.Pro795Ser) c.280C>T (p.Pro94Ser) c.2722C>T (p.Pro908Ser) c.1042C>T (p.Pro348Ser) | |
X | g.108621833dup | CA258744 | COL4A5 | c.2708dup (p.Pro904SerfsTer19) n.2164dup c.2384dup (p.Pro796SerfsTer19) c.281dup (p.Pro95SerfsTer19) c.2723dup (p.Pro909SerfsTer19) c.1043dup (p.Pro349SerfsTer19) | dbSNP |
X | g.108621833C>A | CA413851974 | COL4A5 | c.2708C>A (p.Pro903His) n.2164C>A c.2384C>A (p.Pro795His) c.281C>A (p.Pro94His) c.2723C>A (p.Pro908His) c.1043C>A (p.Pro348His) | |
X | g.108621833C>G | CA413851975 | COL4A5 | c.2708C>G (p.Pro903Arg) n.2164C>G c.2384C>G (p.Pro795Arg) c.281C>G (p.Pro94Arg) c.2723C>G (p.Pro908Arg) c.1043C>G (p.Pro348Arg) | |
X | g.108621833C>T | CA413851976 | COL4A5 | c.2708C>T (p.Pro903Leu) n.2164C>T c.2384C>T (p.Pro795Leu) c.281C>T (p.Pro94Leu) c.2723C>T (p.Pro908Leu) c.1043C>T (p.Pro348Leu) | |
X | g.108621834T>A | CA517924402 | COL4A5 | c.2709T>A (p.Pro903=) n.2165T>A c.2385T>A (p.Pro795=) c.282T>A (p.Pro94=) c.2724T>A (p.Pro908=) c.1044T>A (p.Pro348=) | |
X | g.108621834T>C | CA517924403 | COL4A5 | c.2709T>C (p.Pro903=) n.2165T>C c.2385T>C (p.Pro795=) c.282T>C (p.Pro94=) c.2724T>C (p.Pro908=) c.1044T>C (p.Pro348=) | ClinVar |
X | g.108621834T>G | CA517924405 | COL4A5 | c.2709T>G (p.Pro903=) n.2165T>G c.2385T>G (p.Pro795=) c.282T>G (p.Pro94=) c.2724T>G (p.Pro908=) c.1044T>G (p.Pro348=) | |
X | g.108621835C>A | CA413851979 | COL4A5 | c.2710C>A (p.Pro904Thr) n.2166C>A c.2386C>A (p.Pro796Thr) c.283C>A (p.Pro95Thr) c.2725C>A (p.Pro909Thr) c.1045C>A (p.Pro349Thr) | |
X | g.108621835C= | CA2450696574 | COL4A5 | c.2710C= (p.Pro904=) n.2166C= c.2386C= (p.Pro796=) c.283C= (p.Pro95=) c.2725C= (p.Pro909=) c.1045C= (p.Pro349=) | |
X | g.108621835C>G | CA413851981 | COL4A5 | c.2710C>G (p.Pro904Ala) n.2166C>G c.2386C>G (p.Pro796Ala) c.283C>G (p.Pro95Ala) c.2725C>G (p.Pro909Ala) c.1045C>G (p.Pro349Ala) | |
X | g.108621835C>T | CA413851984 | COL4A5 | c.2710C>T (p.Pro904Ser) n.2166C>T c.2386C>T (p.Pro796Ser) c.283C>T (p.Pro95Ser) c.2725C>T (p.Pro909Ser) c.1045C>T (p.Pro349Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108621836C>A | CA413851987 | COL4A5 | c.2711C>A (p.Pro904Gln) n.2167C>A c.2387C>A (p.Pro796Gln) c.284C>A (p.Pro95Gln) c.2726C>A (p.Pro909Gln) c.1046C>A (p.Pro349Gln) | |
X | g.108621836C>G | CA413851992 | COL4A5 | c.2711C>G (p.Pro904Arg) n.2167C>G c.2387C>G (p.Pro796Arg) c.284C>G (p.Pro95Arg) c.2726C>G (p.Pro909Arg) c.1046C>G (p.Pro349Arg) | |
X | g.108621836C>T | CA413852003 | COL4A5 | c.2711C>T (p.Pro904Leu) n.2167C>T c.2387C>T (p.Pro796Leu) c.284C>T (p.Pro95Leu) c.2726C>T (p.Pro909Leu) c.1046C>T (p.Pro349Leu) | COSMIC COSMIC |
X | g.108621837A>C | CA517924408 | COL4A5 | c.2712A>C (p.Pro904=) n.2168A>C c.2388A>C (p.Pro796=) c.285A>C (p.Pro95=) c.2727A>C (p.Pro909=) c.1047A>C (p.Pro349=) | |
X | g.108621837A>G | CA517924409 | COL4A5 | c.2712A>G (p.Pro904=) n.2168A>G c.2388A>G (p.Pro796=) c.285A>G (p.Pro95=) c.2727A>G (p.Pro909=) c.1047A>G (p.Pro349=) | |
X | g.108621837A>T | CA517924411 | COL4A5 | c.2712A>T (p.Pro904=) n.2168A>T c.2388A>T (p.Pro796=) c.285A>T (p.Pro95=) c.2727A>T (p.Pro909=) c.1047A>T (p.Pro349=) | |
X | g.108621838G>A | CA334050070 | COL4A5 | c.2713G>A (p.Gly905Ser) n.2169G>A c.2389G>A (p.Gly797Ser) c.286G>A (p.Gly96Ser) c.2728G>A (p.Gly910Ser) c.1048G>A (p.Gly350Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108621838G>C | CA413852009 | COL4A5 | c.2713G>C (p.Gly905Arg) n.2169G>C c.2389G>C (p.Gly797Arg) c.286G>C (p.Gly96Arg) c.2728G>C (p.Gly910Arg) c.1048G>C (p.Gly350Arg) | ClinVar dbSNP |
X | g.108621838G= | CA2450696575 | COL4A5 | c.2713G= (p.Gly905=) n.2169G= c.2389G= (p.Gly797=) c.286G= (p.Gly96=) c.2728G= (p.Gly910=) c.1048G= (p.Gly350=) | |
X | g.108621838G>T | CA413852007 | COL4A5 | c.2713G>T (p.Gly905Cys) n.2169G>T c.2389G>T (p.Gly797Cys) c.286G>T (p.Gly96Cys) c.2728G>T (p.Gly910Cys) c.1048G>T (p.Gly350Cys) | COSMIC COSMIC |
X | g.108621839G>A | CA413852012 | COL4A5 | c.2714G>A (p.Gly905Asp) n.2170G>A c.2390G>A (p.Gly797Asp) c.287G>A (p.Gly96Asp) c.2729G>A (p.Gly910Asp) c.1049G>A (p.Gly350Asp) | |
X | g.108621839G>C | CA413852014 | COL4A5 | c.2714G>C (p.Gly905Ala) n.2170G>C c.2390G>C (p.Gly797Ala) c.287G>C (p.Gly96Ala) c.2729G>C (p.Gly910Ala) c.1049G>C (p.Gly350Ala) | |
X | g.108621839G= | CA2450696576 | COL4A5 | c.2714G= (p.Gly905=) n.2170G= c.2390G= (p.Gly797=) c.287G= (p.Gly96=) c.2729G= (p.Gly910=) c.1049G= (p.Gly350=) | |
X | g.108621839G>T | CA413852016 | COL4A5 | c.2714G>T (p.Gly905Val) n.2170G>T c.2390G>T (p.Gly797Val) c.287G>T (p.Gly96Val) c.2729G>T (p.Gly910Val) c.1049G>T (p.Gly350Val) | |
X | g.108621840C>A | CA517924412 | COL4A5 | c.2715C>A (p.Gly905=) n.2171C>A c.2391C>A (p.Gly797=) c.288C>A (p.Gly96=) c.2730C>A (p.Gly910=) c.1050C>A (p.Gly350=) | |
X | g.108621840C= | CA2450696577 | COL4A5 | c.2715C= (p.Gly905=) n.2171C= c.2391C= (p.Gly797=) c.288C= (p.Gly96=) c.2730C= (p.Gly910=) c.1050C= (p.Gly350=) | |
X | g.108621840C>G | CA517924413 | COL4A5 | c.2715C>G (p.Gly905=) n.2171C>G c.2391C>G (p.Gly797=) c.288C>G (p.Gly96=) c.2730C>G (p.Gly910=) c.1050C>G (p.Gly350=) | |
X | g.108621840C>T | CA517924414 | COL4A5 | c.2715C>T (p.Gly905=) n.2171C>T c.2391C>T (p.Gly797=) c.288C>T (p.Gly96=) c.2730C>T (p.Gly910=) c.1050C>T (p.Gly350=) | ClinVar dbSNP gnomAD v4 |
X | g.108621841C>A | CA10488967 | COL4A5 | c.2716C>A (p.Pro906Thr) n.2172C>A c.2392C>A (p.Pro798Thr) c.289C>A (p.Pro97Thr) c.2731C>A (p.Pro911Thr) c.1051C>A (p.Pro351Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108621841C= | CA2450696578 | COL4A5 | c.2716C= (p.Pro906=) n.2172C= c.2392C= (p.Pro798=) c.289C= (p.Pro97=) c.2731C= (p.Pro911=) c.1051C= (p.Pro351=) | |
X | g.108621841C>G | CA413852025 | COL4A5 | c.2716C>G (p.Pro906Ala) n.2172C>G c.2392C>G (p.Pro798Ala) c.289C>G (p.Pro97Ala) c.2731C>G (p.Pro911Ala) c.1051C>G (p.Pro351Ala) | |
X | g.108621841C>T | CA413852027 | COL4A5 | c.2716C>T (p.Pro906Ser) n.2172C>T c.2392C>T (p.Pro798Ser) c.289C>T (p.Pro97Ser) c.2731C>T (p.Pro911Ser) c.1051C>T (p.Pro351Ser) | |
X | g.108621842C>A | CA413852033 | COL4A5 | c.2717C>A (p.Pro906Gln) n.2173C>A c.2393C>A (p.Pro798Gln) c.290C>A (p.Pro97Gln) c.2732C>A (p.Pro911Gln) c.1052C>A (p.Pro351Gln) | gnomAD v4 |
X | g.108621842C= | CA2450696579 | COL4A5 | c.2717C= (p.Pro906=) n.2173C= c.2393C= (p.Pro798=) c.290C= (p.Pro97=) c.2732C= (p.Pro911=) c.1052C= (p.Pro351=) | |
X | g.108621842C>G | CA10488968 | COL4A5 | c.2717C>G (p.Pro906Arg) n.2173C>G c.2393C>G (p.Pro798Arg) c.290C>G (p.Pro97Arg) c.2732C>G (p.Pro911Arg) c.1052C>G (p.Pro351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108621842C>T | CA413852044 | COL4A5 | c.2717C>T (p.Pro906Leu) n.2173C>T c.2393C>T (p.Pro798Leu) c.290C>T (p.Pro97Leu) c.2732C>T (p.Pro911Leu) c.1052C>T (p.Pro351Leu) | dbSNP gnomAD v4 |
X | g.108621843A= | CA2450696580 | COL4A5 | c.2718A= (p.Pro906=) n.2174A= c.2394A= (p.Pro798=) c.291A= (p.Pro97=) c.2733A= (p.Pro911=) c.1053A= (p.Pro351=) | |
X | g.108621843A>C | CA517924416 | COL4A5 | c.2718A>C (p.Pro906=) n.2174A>C c.2394A>C (p.Pro798=) c.291A>C (p.Pro97=) c.2733A>C (p.Pro911=) c.1053A>C (p.Pro351=) | |
X | g.108621843A>G | CA10488969 | COL4A5 | c.2718A>G (p.Pro906=) n.2174A>G c.2394A>G (p.Pro798=) c.291A>G (p.Pro97=) c.2733A>G (p.Pro911=) c.1053A>G (p.Pro351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108621843A>T | CA517924417 | COL4A5 | c.2718A>T (p.Pro906=) n.2174A>T c.2394A>T (p.Pro798=) c.291A>T (p.Pro97=) c.2733A>T (p.Pro911=) c.1053A>T (p.Pro351=) | |
X | g.108621844C>A | CA413852046 | COL4A5 | c.2719C>A (p.Pro907Thr) n.2175C>A c.2395C>A (p.Pro799Thr) c.292C>A (p.Pro98Thr) c.2734C>A (p.Pro912Thr) c.1054C>A (p.Pro352Thr) | |
X | g.108621844C>G | CA413852047 | COL4A5 | c.2719C>G (p.Pro907Ala) n.2175C>G c.2395C>G (p.Pro799Ala) c.292C>G (p.Pro98Ala) c.2734C>G (p.Pro912Ala) c.1054C>G (p.Pro352Ala) | |
X | g.108621844C>T | CA413852045 | COL4A5 | c.2719C>T (p.Pro907Ser) n.2175C>T c.2395C>T (p.Pro799Ser) c.292C>T (p.Pro98Ser) c.2734C>T (p.Pro912Ser) c.1054C>T (p.Pro352Ser) | |
X | g.108621845C>A | CA413852062 | COL4A5 | c.2720C>A (p.Pro907Gln) n.2176C>A c.2396C>A (p.Pro799Gln) c.293C>A (p.Pro98Gln) c.2735C>A (p.Pro912Gln) c.1055C>A (p.Pro352Gln) | |
X | g.108621845C= | CA2450696581 | COL4A5 | c.2720C= (p.Pro907=) n.2176C= c.2396C= (p.Pro799=) c.293C= (p.Pro98=) c.2735C= (p.Pro912=) c.1055C= (p.Pro352=) | |
X | g.108621845C>G | CA413852050 | COL4A5 | c.2720C>G (p.Pro907Arg) n.2176C>G c.2396C>G (p.Pro799Arg) c.293C>G (p.Pro98Arg) c.2735C>G (p.Pro912Arg) c.1055C>G (p.Pro352Arg) | |
X | g.108621845C>T | CA413852059 | COL4A5 | c.2720C>T (p.Pro907Leu) n.2176C>T c.2396C>T (p.Pro799Leu) c.293C>T (p.Pro98Leu) c.2735C>T (p.Pro912Leu) c.1055C>T (p.Pro352Leu) | dbSNP |
X | g.108621846A= | CA2450696582 | COL4A5 | c.2721A= (p.Pro907=) n.2177A= c.2397A= (p.Pro799=) c.294A= (p.Pro98=) c.2736A= (p.Pro912=) c.1056A= (p.Pro352=) | |
X | g.108621846A>C | CA517924423 | COL4A5 | c.2721A>C (p.Pro907=) n.2177A>C c.2397A>C (p.Pro799=) c.294A>C (p.Pro98=) c.2736A>C (p.Pro912=) c.1056A>C (p.Pro352=) | |
X | g.108621846A>G | CA517924422 | COL4A5 | c.2721A>G (p.Pro907=) n.2177A>G c.2397A>G (p.Pro799=) c.294A>G (p.Pro98=) c.2736A>G (p.Pro912=) c.1056A>G (p.Pro352=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108621846A>T | CA517924421 | COL4A5 | c.2721A>T (p.Pro907=) n.2177A>T c.2397A>T (p.Pro799=) c.294A>T (p.Pro98=) c.2736A>T (p.Pro912=) c.1056A>T (p.Pro352=) | |
X | g.108621847G>A | CA258745 | COL4A5 | c.2722G>A (p.Gly908Arg) n.2178G>A c.2398G>A (p.Gly800Arg) c.295G>A (p.Gly99Arg) c.2737G>A (p.Gly913Arg) c.1057G>A (p.Gly353Arg) | ClinVar dbSNP COSMIC |
X | g.108621847G>C | CA413852078 | COL4A5 | c.2722G>C (p.Gly908Arg) n.2178G>C c.2398G>C (p.Gly800Arg) c.295G>C (p.Gly99Arg) c.2737G>C (p.Gly913Arg) c.1057G>C (p.Gly353Arg) | |
X | g.108621847G= | CA2450696583 | COL4A5 | c.2722G= (p.Gly908=) n.2178G= c.2398G= (p.Gly800=) c.295G= (p.Gly99=) c.2737G= (p.Gly913=) c.1057G= (p.Gly353=) | |
X | g.108621847G>T | CA10603526 | COL4A5 | c.2722G>T (p.Gly908Ter) n.2178G>T c.2398G>T (p.Gly800Ter) c.295G>T (p.Gly99Ter) c.2737G>T (p.Gly913Ter) c.1057G>T (p.Gly353Ter) | ClinVar dbSNP |
X | g.108621848G>A | CA10581392 | COL4A5 | c.2723G>A (p.Gly908Glu) n.2179G>A c.2399G>A (p.Gly800Glu) c.296G>A (p.Gly99Glu) c.2738G>A (p.Gly913Glu) c.1058G>A (p.Gly353Glu) | ClinVar dbSNP |
X | g.108621848G>C | CA413852082 | COL4A5 | c.2723G>C (p.Gly908Ala) n.2179G>C c.2399G>C (p.Gly800Ala) c.296G>C (p.Gly99Ala) c.2738G>C (p.Gly913Ala) c.1058G>C (p.Gly353Ala) | ClinVar |
X | g.108621848G= | CA2450696584 | COL4A5 | c.2723G= (p.Gly908=) n.2179G= c.2399G= (p.Gly800=) c.296G= (p.Gly99=) c.2738G= (p.Gly913=) c.1058G= (p.Gly353=) | |
X | g.108621848G>T | CA413852085 | COL4A5 | c.2723G>T (p.Gly908Val) n.2179G>T c.2399G>T (p.Gly800Val) c.296G>T (p.Gly99Val) c.2738G>T (p.Gly913Val) c.1058G>T (p.Gly353Val) | |
X | g.108621849A>C | CA517924427 | COL4A5 | c.2724A>C (p.Gly908=) n.2180A>C c.2400A>C (p.Gly800=) c.297A>C (p.Gly99=) c.2739A>C (p.Gly913=) c.1059A>C (p.Gly353=) | |
X | g.108621849A>G | CA517924428 | COL4A5 | c.2724A>G (p.Gly908=) n.2180A>G c.2400A>G (p.Gly800=) c.297A>G (p.Gly99=) c.2739A>G (p.Gly913=) c.1059A>G (p.Gly353=) | |
X | g.108621849A>T | CA517924429 | COL4A5 | c.2724A>T (p.Gly908=) n.2180A>T c.2400A>T (p.Gly800=) c.297A>T (p.Gly99=) c.2739A>T (p.Gly913=) c.1059A>T (p.Gly353=) | |
X | g.108621850C>A | CA413852087 | COL4A5 | c.2725C>A (p.Pro909Thr) n.2181C>A c.2401C>A (p.Pro801Thr) c.298C>A (p.Pro100Thr) c.2740C>A (p.Pro914Thr) c.1060C>A (p.Pro354Thr) | |
X | g.108621850C>G | CA413852090 | COL4A5 | c.2725C>G (p.Pro909Ala) n.2181C>G c.2401C>G (p.Pro801Ala) c.298C>G (p.Pro100Ala) c.2740C>G (p.Pro914Ala) c.1060C>G (p.Pro354Ala) | |
X | g.108621850C>T | CA413852092 | COL4A5 | c.2725C>T (p.Pro909Ser) n.2181C>T c.2401C>T (p.Pro801Ser) c.298C>T (p.Pro100Ser) c.2740C>T (p.Pro914Ser) c.1060C>T (p.Pro354Ser) | |
X | g.108621851C>A | CA413852096 | COL4A5 | c.2726C>A (p.Pro909His) n.2182C>A c.2402C>A (p.Pro801His) c.299C>A (p.Pro100His) c.2741C>A (p.Pro914His) c.1061C>A (p.Pro354His) | |
X | g.108621851C>G | CA413852097 | COL4A5 | c.2726C>G (p.Pro909Arg) n.2182C>G c.2402C>G (p.Pro801Arg) c.299C>G (p.Pro100Arg) c.2741C>G (p.Pro914Arg) c.1061C>G (p.Pro354Arg) | |
X | g.108621851C>T | CA413852098 | COL4A5 | c.2726C>T (p.Pro909Leu) n.2182C>T c.2402C>T (p.Pro801Leu) c.299C>T (p.Pro100Leu) c.2741C>T (p.Pro914Leu) c.1061C>T (p.Pro354Leu) | |
X | g.108621852T>A | CA517924433 | COL4A5 | c.2727T>A (p.Pro909=) n.2183T>A c.2403T>A (p.Pro801=) c.300T>A (p.Pro100=) c.2742T>A (p.Pro914=) c.1062T>A (p.Pro354=) | |
X | g.108621852T>C | CA517924434 | COL4A5 | c.2727T>C (p.Pro909=) n.2183T>C c.2403T>C (p.Pro801=) c.300T>C (p.Pro100=) c.2742T>C (p.Pro914=) c.1062T>C (p.Pro354=) | |
X | g.108621852T>G | CA517924435 | COL4A5 | c.2727T>G (p.Pro909=) n.2183T>G c.2403T>G (p.Pro801=) c.300T>G (p.Pro100=) c.2742T>G (p.Pro914=) c.1062T>G (p.Pro354=) | |
X | g.108621853T>A | CA413852101 | COL4A5 | c.2728T>A (p.Leu910Met) n.2184T>A c.2404T>A (p.Leu802Met) c.301T>A (p.Leu101Met) c.2743T>A (p.Leu915Met) c.1063T>A (p.Leu355Met) | |
X | g.108621853T>C | CA517924436 | COL4A5 | c.2728T>C (p.Leu910=) n.2184T>C c.2404T>C (p.Leu802=) c.301T>C (p.Leu101=) c.2743T>C (p.Leu915=) c.1063T>C (p.Leu355=) | |
X | g.108621853T>G | CA413852107 | COL4A5 | c.2728T>G (p.Leu910Val) n.2184T>G c.2404T>G (p.Leu802Val) c.301T>G (p.Leu101Val) c.2743T>G (p.Leu915Val) c.1063T>G (p.Leu355Val) | |
X | g.108621854T>A | CA413852109 | COL4A5 | c.2729T>A (p.Leu910Ter) n.2185T>A c.2405T>A (p.Leu802Ter) c.302T>A (p.Leu101Ter) c.2744T>A (p.Leu915Ter) c.1064T>A (p.Leu355Ter) | gnomAD v4 |
X | g.108621854T>C | CA413852110 | COL4A5 | c.2729T>C (p.Leu910Ser) n.2185T>C c.2405T>C (p.Leu802Ser) c.302T>C (p.Leu101Ser) c.2744T>C (p.Leu915Ser) c.1064T>C (p.Leu355Ser) | |
X | g.108621854T>G | CA413852111 | COL4A5 | c.2729T>G (p.Leu910Trp) n.2185T>G c.2405T>G (p.Leu802Trp) c.302T>G (p.Leu101Trp) c.2744T>G (p.Leu915Trp) c.1064T>G (p.Leu355Trp) | |
X | g.108621855G>A | CA517924438 | COL4A5 | c.2730G>A (p.Leu910=) n.2186G>A c.2406G>A (p.Leu802=) c.303G>A (p.Leu101=) c.2745G>A (p.Leu915=) c.1065G>A (p.Leu355=) | |
X | g.108621855G>C | CA413852114 | COL4A5 | c.2730G>C (p.Leu910Phe) n.2186G>C c.2406G>C (p.Leu802Phe) c.303G>C (p.Leu101Phe) c.2745G>C (p.Leu915Phe) c.1065G>C (p.Leu355Phe) | |
X | g.108621855G>T | CA413852115 | COL4A5 | c.2730G>T (p.Leu910Phe) n.2186G>T c.2406G>T (p.Leu802Phe) c.303G>T (p.Leu101Phe) c.2745G>T (p.Leu915Phe) c.1065G>T (p.Leu355Phe) | gnomAD v4 |
X | g.108621857del | CA2695235222 | COL4A5 | c.2732del (p.Gly911GlufsTer?) n.2188del c.2408del (p.Gly803GlufsTer?) c.305del (p.Gly102GlufsTer?) c.2747del (p.Gly916GlufsTer?) c.1067del (p.Gly356GlufsTer?) | |
X | g.108621856G>A | CA258748 | COL4A5 | c.2731G>A (p.Gly911Arg) n.2187G>A c.2407G>A (p.Gly803Arg) c.304G>A (p.Gly102Arg) c.2746G>A (p.Gly916Arg) c.1066G>A (p.Gly356Arg) | dbSNP COSMIC COSMIC |
X | g.108621856G>C | CA413852118 | COL4A5 | c.2731G>C (p.Gly911Arg) n.2187G>C c.2407G>C (p.Gly803Arg) c.304G>C (p.Gly102Arg) c.2746G>C (p.Gly916Arg) c.1066G>C (p.Gly356Arg) | |
X | g.108621856G= | CA2450696585 | COL4A5 | c.2731G= (p.Gly911=) n.2187G= c.2407G= (p.Gly803=) c.304G= (p.Gly102=) c.2746G= (p.Gly916=) c.1066G= (p.Gly356=) | |
X | g.108621856G>T | CA413852121 | COL4A5 | c.2731G>T (p.Gly911Ter) n.2187G>T c.2407G>T (p.Gly803Ter) c.304G>T (p.Gly102Ter) c.2746G>T (p.Gly916Ter) c.1066G>T (p.Gly356Ter) | |
X | g.108621857G>A | CA258751 | COL4A5 | c.2732G>A (p.Gly911Glu) n.2188G>A c.2408G>A (p.Gly803Glu) c.305G>A (p.Gly102Glu) c.2747G>A (p.Gly916Glu) c.1067G>A (p.Gly356Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108621857G>C | CA413852125 | COL4A5 | c.2732G>C (p.Gly911Ala) n.2188G>C c.2408G>C (p.Gly803Ala) c.305G>C (p.Gly102Ala) c.2747G>C (p.Gly916Ala) c.1067G>C (p.Gly356Ala) | |
X | g.108621857G= | CA2450696586 | COL4A5 | c.2732G= (p.Gly911=) n.2188G= c.2408G= (p.Gly803=) c.305G= (p.Gly102=) c.2747G= (p.Gly916=) c.1067G= (p.Gly356=) | |
X | g.108621857G>T | CA413852127 | COL4A5 | c.2732G>T (p.Gly911Val) n.2188G>T c.2408G>T (p.Gly803Val) c.305G>T (p.Gly102Val) c.2747G>T (p.Gly916Val) c.1067G>T (p.Gly356Val) | |
X | g.108621858A>C | CA517924441 | COL4A5 | c.2733A>C (p.Gly911=) n.2189A>C c.2409A>C (p.Gly803=) c.306A>C (p.Gly102=) c.2748A>C (p.Gly916=) c.1068A>C (p.Gly356=) | |
X | g.108621858A>G | CA517924443 | COL4A5 | c.2733A>G (p.Gly911=) n.2189A>G c.2409A>G (p.Gly803=) c.306A>G (p.Gly102=) c.2748A>G (p.Gly916=) c.1068A>G (p.Gly356=) | |
X | g.108621858A>T | CA517924445 | COL4A5 | c.2733A>T (p.Gly911=) n.2189A>T c.2409A>T (p.Gly803=) c.306A>T (p.Gly102=) c.2748A>T (p.Gly916=) c.1068A>T (p.Gly356=) | |
X | g.108621859A>C | CA413852132 | COL4A5 | c.2734A>C (p.Ile912Leu) n.2190A>C c.2410A>C (p.Ile804Leu) c.307A>C (p.Ile103Leu) c.2749A>C (p.Ile917Leu) c.1069A>C (p.Ile357Leu) | |
X | g.108621859A>G | CA413852131 | COL4A5 | c.2734A>G (p.Ile912Val) n.2190A>G c.2410A>G (p.Ile804Val) c.307A>G (p.Ile103Val) c.2749A>G (p.Ile917Val) c.1069A>G (p.Ile357Val) | |
X | g.108621859A>T | CA413852130 | COL4A5 | c.2734A>T (p.Ile912Phe) n.2190A>T c.2410A>T (p.Ile804Phe) c.307A>T (p.Ile103Phe) c.2749A>T (p.Ile917Phe) c.1069A>T (p.Ile357Phe) | |
X | g.108621860T>A | CA413852133 | COL4A5 | c.2735T>A (p.Ile912Asn) n.2191T>A c.2411T>A (p.Ile804Asn) c.308T>A (p.Ile103Asn) c.2750T>A (p.Ile917Asn) c.1070T>A (p.Ile357Asn) | |
X | g.108621860T>C | CA413852136 | COL4A5 | c.2735T>C (p.Ile912Thr) n.2191T>C c.2411T>C (p.Ile804Thr) c.308T>C (p.Ile103Thr) c.2750T>C (p.Ile917Thr) c.1070T>C (p.Ile357Thr) | |
X | g.108621860T>G | CA413852138 | COL4A5 | c.2735T>G (p.Ile912Ser) n.2191T>G c.2411T>G (p.Ile804Ser) c.308T>G (p.Ile103Ser) c.2750T>G (p.Ile917Ser) c.1070T>G (p.Ile357Ser) | |
X | g.108621861T>A | CA517924446 | COL4A5 | c.2736T>A (p.Ile912=) n.2192T>A c.2412T>A (p.Ile804=) c.309T>A (p.Ile103=) c.2751T>A (p.Ile917=) c.1071T>A (p.Ile357=) | |
X | g.108621861T>C | CA517924447 | COL4A5 | c.2736T>C (p.Ile912=) n.2192T>C c.2412T>C (p.Ile804=) c.309T>C (p.Ile103=) c.2751T>C (p.Ile917=) c.1071T>C (p.Ile357=) | |
X | g.108621861T>G | CA413852139 | COL4A5 | c.2736T>G (p.Ile912Met) n.2192T>G c.2412T>G (p.Ile804Met) c.309T>G (p.Ile103Met) c.2751T>G (p.Ile917Met) c.1071T>G (p.Ile357Met) | |
X | g.108621862C>A | CA413852143 | COL4A5 | c.2737C>A (p.Pro913Thr) n.2193C>A c.2413C>A (p.Pro805Thr) c.310C>A (p.Pro104Thr) c.2752C>A (p.Pro918Thr) c.1072C>A (p.Pro358Thr) | |
X | g.108621862C>G | CA413852144 | COL4A5 | c.2737C>G (p.Pro913Ala) n.2193C>G c.2413C>G (p.Pro805Ala) c.310C>G (p.Pro104Ala) c.2752C>G (p.Pro918Ala) c.1072C>G (p.Pro358Ala) | |
X | g.108621862C>T | CA413852151 | COL4A5 | c.2737C>T (p.Pro913Ser) n.2193C>T c.2413C>T (p.Pro805Ser) c.310C>T (p.Pro104Ser) c.2752C>T (p.Pro918Ser) c.1072C>T (p.Pro358Ser) | COSMIC COSMIC |
X | g.108621863C>A | CA413852160 | COL4A5 | c.2738C>A (p.Pro913His) n.2194C>A c.2414C>A (p.Pro805His) c.311C>A (p.Pro104His) c.2753C>A (p.Pro918His) c.1073C>A (p.Pro358His) | |
X | g.108621863C= | CA2450696587 | COL4A5 | c.2738C= (p.Pro913=) n.2194C= c.2414C= (p.Pro805=) c.311C= (p.Pro104=) c.2753C= (p.Pro918=) c.1073C= (p.Pro358=) | |
X | g.108621863C>G | CA413852172 | COL4A5 | c.2738C>G (p.Pro913Arg) n.2194C>G c.2414C>G (p.Pro805Arg) c.311C>G (p.Pro104Arg) c.2753C>G (p.Pro918Arg) c.1073C>G (p.Pro358Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108621863C>T | CA413852175 | COL4A5 | c.2738C>T (p.Pro913Leu) n.2194C>T c.2414C>T (p.Pro805Leu) c.311C>T (p.Pro104Leu) c.2753C>T (p.Pro918Leu) c.1073C>T (p.Pro358Leu) | gnomAD v4 |
X | g.108621864T>A | CA517924449 | COL4A5 | c.2739T>A (p.Pro913=) n.2195T>A c.2415T>A (p.Pro805=) c.312T>A (p.Pro104=) c.2754T>A (p.Pro918=) c.1074T>A (p.Pro358=) | |
X | g.108621864T>C | CA517924450 | COL4A5 | c.2739T>C (p.Pro913=) n.2195T>C c.2415T>C (p.Pro805=) c.312T>C (p.Pro104=) c.2754T>C (p.Pro918=) c.1074T>C (p.Pro358=) | |
X | g.108621864T>G | CA517924451 | COL4A5 | c.2739T>G (p.Pro913=) n.2195T>G c.2415T>G (p.Pro805=) c.312T>G (p.Pro104=) c.2754T>G (p.Pro918=) c.1074T>G (p.Pro358=) | ClinVar |
X | g.108621865G>A | CA413852176 | COL4A5 | c.2740G>A (p.Gly914Ser) n.2196G>A c.2416G>A (p.Gly806Ser) c.313G>A (p.Gly105Ser) c.2755G>A (p.Gly919Ser) c.1075G>A (p.Gly359Ser) | ClinVar gnomAD v4 |
X | g.108621865G>C | CA413852177 | COL4A5 | c.2740G>C (p.Gly914Arg) n.2196G>C c.2416G>C (p.Gly806Arg) c.313G>C (p.Gly105Arg) c.2755G>C (p.Gly919Arg) c.1075G>C (p.Gly359Arg) | |
X | g.108621865G>T | CA413852178 | COL4A5 | c.2740G>T (p.Gly914Cys) n.2196G>T c.2416G>T (p.Gly806Cys) c.313G>T (p.Gly105Cys) c.2755G>T (p.Gly919Cys) c.1075G>T (p.Gly359Cys) | |
X | g.108621865_108621870delinsC | CA2695197175 | COL4A5 | c.2740_2745delinsC (p.Gly914GlnfsTer7) n.2196_2201delinsC c.2416_2421delinsC (p.Gly806GlnfsTer7) c.313_318delinsC (p.Gly105GlnfsTer7) c.2755_2760delinsC (p.Gly919GlnfsTer7) c.1075_1080delinsC (p.Gly359GlnfsTer7) | ClinVar |
X | g.108621866G>A | CA351683 | COL4A5 | c.2741G>A (p.Gly914Asp) n.2197G>A c.2417G>A (p.Gly806Asp) c.314G>A (p.Gly105Asp) c.2756G>A (p.Gly919Asp) c.1076G>A (p.Gly359Asp) | ClinVar dbSNP |
X | g.108621866G>C | CA413852180 | COL4A5 | c.2741G>C (p.Gly914Ala) n.2197G>C c.2417G>C (p.Gly806Ala) c.314G>C (p.Gly105Ala) c.2756G>C (p.Gly919Ala) c.1076G>C (p.Gly359Ala) | ClinVar |
X | g.108621866G= | CA2450696588 | COL4A5 | c.2741G= (p.Gly914=) n.2197G= c.2417G= (p.Gly806=) c.314G= (p.Gly105=) c.2756G= (p.Gly919=) c.1076G= (p.Gly359=) | |
X | g.108621866G>T | CA413852182 | COL4A5 | c.2741G>T (p.Gly914Val) n.2197G>T c.2417G>T (p.Gly806Val) c.314G>T (p.Gly105Val) c.2756G>T (p.Gly919Val) c.1076G>T (p.Gly359Val) | |
X | g.108621867C>A | CA517924458 | COL4A5 | c.2742C>A (p.Gly914=) n.2198C>A c.2418C>A (p.Gly806=) c.315C>A (p.Gly105=) c.2757C>A (p.Gly919=) c.1077C>A (p.Gly359=) | gnomAD v4 |
X | g.108621867C>G | CA517924459 | COL4A5 | c.2742C>G (p.Gly914=) n.2198C>G c.2418C>G (p.Gly806=) c.315C>G (p.Gly105=) c.2757C>G (p.Gly919=) c.1077C>G (p.Gly359=) | |
X | g.108621867C>T | CA517924460 | COL4A5 | c.2742C>T (p.Gly914=) n.2198C>T c.2418C>T (p.Gly806=) c.315C>T (p.Gly105=) c.2757C>T (p.Gly919=) c.1077C>T (p.Gly359=) | |
X | g.108621868A>C | CA517924462 | COL4A5 | c.2743A>C (p.Arg915=) n.2199A>C c.2419A>C (p.Arg807=) c.316A>C (p.Arg106=) c.2758A>C (p.Arg920=) c.1078A>C (p.Arg360=) | |
X | g.108621868A>G | CA413852186 | COL4A5 | c.2743A>G (p.Arg915Gly) n.2199A>G c.2419A>G (p.Arg807Gly) c.316A>G (p.Arg106Gly) c.2758A>G (p.Arg920Gly) c.1078A>G (p.Arg360Gly) | |
X | g.108621868A>T | CA413852189 | COL4A5 | c.2743A>T (p.Arg915Trp) n.2199A>T c.2419A>T (p.Arg807Trp) c.316A>T (p.Arg106Trp) c.2758A>T (p.Arg920Trp) c.1078A>T (p.Arg360Trp) | |
X | g.108621869G>A | CA413852192 | COL4A5 | c.2744G>A (p.Arg915Lys) n.2200G>A c.2420G>A (p.Arg807Lys) c.317G>A (p.Arg106Lys) c.2759G>A (p.Arg920Lys) c.1079G>A (p.Arg360Lys) | |
X | g.108621869G>C | CA413852193 | COL4A5 | c.2744G>C (p.Arg915Thr) n.2200G>C c.2420G>C (p.Arg807Thr) c.317G>C (p.Arg106Thr) c.2759G>C (p.Arg920Thr) c.1079G>C (p.Arg360Thr) | |
X | g.108621869G>T | CA413852194 | COL4A5 | c.2744G>T (p.Arg915Met) n.2200G>T c.2420G>T (p.Arg807Met) c.317G>T (p.Arg106Met) c.2759G>T (p.Arg920Met) c.1079G>T (p.Arg360Met) | |
X | g.108621870G>A | CA517924464 | COL4A5 | c.2745G>A (p.Arg915=) n.2201G>A c.2421G>A (p.Arg807=) c.318G>A (p.Arg106=) c.2760G>A (p.Arg920=) c.1080G>A (p.Arg360=) | gnomAD v4 |
X | g.108621870G>C | CA413852195 | COL4A5 | c.2745G>C (p.Arg915Ser) n.2201G>C c.2421G>C (p.Arg807Ser) c.318G>C (p.Arg106Ser) c.2760G>C (p.Arg920Ser) c.1080G>C (p.Arg360Ser) | |
X | g.108621870G>T | CA413852198 | COL4A5 | c.2745G>T (p.Arg915Ser) n.2201G>T c.2421G>T (p.Arg807Ser) c.318G>T (p.Arg106Ser) c.2760G>T (p.Arg920Ser) c.1080G>T (p.Arg360Ser) | |
X | g.108621871A= | CA2450696589 | COL4A5 | c.2746A= (p.Ser916=) n.2202A= c.2422A= (p.Ser808=) c.319A= (p.Ser107=) c.2761A= (p.Ser921=) c.1081A= (p.Ser361=) | |
X | g.108621871A>C | CA413852201 | COL4A5 | c.2746A>C (p.Ser916Arg) n.2202A>C c.2422A>C (p.Ser808Arg) c.319A>C (p.Ser107Arg) c.2761A>C (p.Ser921Arg) c.1081A>C (p.Ser361Arg) | |
X | g.108621871A>G | CA258753 | COL4A5 | c.2746A>G (p.Ser916Gly) n.2202A>G c.2422A>G (p.Ser808Gly) c.319A>G (p.Ser107Gly) c.2761A>G (p.Ser921Gly) c.1081A>G (p.Ser361Gly) | dbSNP |
X | g.108621871A>T | CA413852205 | COL4A5 | c.2746A>T (p.Ser916Cys) n.2202A>T c.2422A>T (p.Ser808Cys) c.319A>T (p.Ser107Cys) c.2761A>T (p.Ser921Cys) c.1081A>T (p.Ser361Cys) | |
X | g.108621871_108621883delinsAGTGGTGTACCTG | CA2450696591 | COL4A5 | c.2746_2758delinsAGTGGTGTACCTG (p.Ser916=) n.2202_2214delinsAGTGGTGTACCTG c.2422_2434delinsAGTGGTGTACCTG (p.Ser808=) c.319_331delinsAGTGGTGTACCTG (p.Ser107=) c.2761_2773delinsAGTGGTGTACCTG (p.Ser921=) c.1081_1093delinsAGTGGTGTACCTG (p.Ser361=) | |
X | g.108621871_108621884delinsAGTGGTGTACCTGG | CA2450696590 | COL4A5 | c.2746_2759delinsAGTGGTGTACCTGG (p.Ser916=) n.2202_2215delinsAGTGGTGTACCTGG c.2422_2435delinsAGTGGTGTACCTGG (p.Ser808=) c.319_332delinsAGTGGTGTACCTGG (p.Ser107=) c.2761_2774delinsAGTGGTGTACCTGG (p.Ser921=) c.1081_1094delinsAGTGGTGTACCTGG (p.Ser361=) | |
X | g.108621872G>A | CA10488970 | COL4A5 | c.2747G>A (p.Ser916Asn) n.2203G>A c.2423G>A (p.Ser808Asn) c.320G>A (p.Ser107Asn) c.2762G>A (p.Ser921Asn) c.1082G>A (p.Ser361Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108621872G>C | CA413852209 | COL4A5 | c.2747G>C (p.Ser916Thr) n.2203G>C c.2423G>C (p.Ser808Thr) c.320G>C (p.Ser107Thr) c.2762G>C (p.Ser921Thr) c.1082G>C (p.Ser361Thr) | |
X | g.108621872G= | CA2450696592 | COL4A5 | c.2747G= (p.Ser916=) n.2203G= c.2423G= (p.Ser808=) c.320G= (p.Ser107=) c.2762G= (p.Ser921=) c.1082G= (p.Ser361=) | |
X | g.108621872G>T | CA413852210 | COL4A5 | c.2747G>T (p.Ser916Ile) n.2203G>T c.2423G>T (p.Ser808Ile) c.320G>T (p.Ser107Ile) c.2762G>T (p.Ser921Ile) c.1082G>T (p.Ser361Ile) | |
X | g.108621872_108621883delinsT | CA891843944 | COL4A5 | c.2747_2758delinsT (p.Ser916MetfsTer3) n.2203_2214delinsT c.2423_2434delinsT (p.Ser808MetfsTer3) c.320_331delinsT (p.Ser107MetfsTer3) c.2762_2773delinsT (p.Ser921MetfsTer3) c.1082_1093delinsT (p.Ser361MetfsTer3) | |
X | g.108621872_108621884delinsAT | CA334050113 | COL4A5 | c.2747_2759delinsAT (p.Ser916AsnfsTer3) n.2203_2215delinsAT c.2423_2435delinsAT (p.Ser808AsnfsTer3) c.320_332delinsAT (p.Ser107AsnfsTer3) c.2762_2774delinsAT (p.Ser921AsnfsTer3) c.1082_1094delinsAT (p.Ser361AsnfsTer3) | dbSNP |
X | g.108621873T>A | CA413852216 | COL4A5 | c.2748T>A (p.Ser916Arg) n.2204T>A c.2424T>A (p.Ser808Arg) c.321T>A (p.Ser107Arg) c.2763T>A (p.Ser921Arg) c.1083T>A (p.Ser361Arg) | |
X | g.108621873T>C | CA517924469 | COL4A5 | c.2748T>C (p.Ser916=) n.2204T>C c.2424T>C (p.Ser808=) c.321T>C (p.Ser107=) c.2763T>C (p.Ser921=) c.1083T>C (p.Ser361=) | |
X | g.108621873T>G | CA413852211 | COL4A5 | c.2748T>G (p.Ser916Arg) n.2204T>G c.2424T>G (p.Ser808Arg) c.321T>G (p.Ser107Arg) c.2763T>G (p.Ser921Arg) c.1083T>G (p.Ser361Arg) | |
X | g.108621874G>A | CA413852219 | COL4A5 | c.2749G>A (p.Gly917Ser) n.2205G>A c.2425G>A (p.Gly809Ser) c.322G>A (p.Gly108Ser) c.2764G>A (p.Gly922Ser) c.1084G>A (p.Gly362Ser) | ClinVar |
X | g.108621874G>C | CA413852226 | COL4A5 | c.2749G>C (p.Gly917Arg) n.2205G>C c.2425G>C (p.Gly809Arg) c.322G>C (p.Gly108Arg) c.2764G>C (p.Gly922Arg) c.1084G>C (p.Gly362Arg) | |
X | g.108621874G>T | CA413852223 | COL4A5 | c.2749G>T (p.Gly917Cys) n.2205G>T c.2425G>T (p.Gly809Cys) c.322G>T (p.Gly108Cys) c.2764G>T (p.Gly922Cys) c.1084G>T (p.Gly362Cys) | |
X | g.108621875G>A | CA413852235 | COL4A5 | c.2750G>A (p.Gly917Asp) n.2206G>A c.2426G>A (p.Gly809Asp) c.323G>A (p.Gly108Asp) c.2765G>A (p.Gly922Asp) c.1085G>A (p.Gly362Asp) | ClinVar gnomAD v4 |
X | g.108621875G>C | CA413852246 | COL4A5 | c.2750G>C (p.Gly917Ala) n.2206G>C c.2426G>C (p.Gly809Ala) c.323G>C (p.Gly108Ala) c.2765G>C (p.Gly922Ala) c.1085G>C (p.Gly362Ala) | |
X | g.108621875G>T | CA413852237 | COL4A5 | c.2750G>T (p.Gly917Val) n.2206G>T c.2426G>T (p.Gly809Val) c.323G>T (p.Gly108Val) c.2765G>T (p.Gly922Val) c.1085G>T (p.Gly362Val) | COSMIC COSMIC |
X | g.108621876T>A | CA517924473 | COL4A5 | c.2751T>A (p.Gly917=) n.2207T>A c.2427T>A (p.Gly809=) c.324T>A (p.Gly108=) c.2766T>A (p.Gly922=) c.1086T>A (p.Gly362=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108621876T>C | CA10488971 | COL4A5 | c.2751T>C (p.Gly917=) n.2207T>C c.2427T>C (p.Gly809=) c.324T>C (p.Gly108=) c.2766T>C (p.Gly922=) c.1086T>C (p.Gly362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108621876T>G | CA517924475 | COL4A5 | c.2751T>G (p.Gly917=) n.2207T>G c.2427T>G (p.Gly809=) c.324T>G (p.Gly108=) c.2766T>G (p.Gly922=) c.1086T>G (p.Gly362=) | |
X | g.108621876T= | CA2450696593 | COL4A5 | c.2751T= (p.Gly917=) n.2207T= c.2427T= (p.Gly809=) c.324T= (p.Gly108=) c.2766T= (p.Gly922=) c.1086T= (p.Gly362=) | |
X | g.108621877G>A | CA10488972 | COL4A5 | c.2752G>A (p.Val918Ile) n.2208G>A c.2428G>A (p.Val810Ile) c.325G>A (p.Val109Ile) c.2767G>A (p.Val923Ile) c.1087G>A (p.Val363Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108621877G>C | CA413852257 | COL4A5 | c.2752G>C (p.Val918Leu) n.2208G>C c.2428G>C (p.Val810Leu) c.325G>C (p.Val109Leu) c.2767G>C (p.Val923Leu) c.1087G>C (p.Val363Leu) | |
X | g.108621877G= | CA2450696594 | COL4A5 | c.2752G= (p.Val918=) n.2208G= c.2428G= (p.Val810=) c.325G= (p.Val109=) c.2767G= (p.Val923=) c.1087G= (p.Val363=) | |
X | g.108621877G>T | CA413852259 | COL4A5 | c.2752G>T (p.Val918Leu) n.2208G>T c.2428G>T (p.Val810Leu) c.325G>T (p.Val109Leu) c.2767G>T (p.Val923Leu) c.1087G>T (p.Val363Leu) | |
X | g.108621878T>A | CA413852261 | COL4A5 | c.2753T>A (p.Val918Glu) n.2209T>A c.2429T>A (p.Val810Glu) c.326T>A (p.Val109Glu) c.2768T>A (p.Val923Glu) c.1088T>A (p.Val363Glu) | |
X | g.108621878T>C | CA413852263 | COL4A5 | c.2753T>C (p.Val918Ala) n.2209T>C c.2429T>C (p.Val810Ala) c.326T>C (p.Val109Ala) c.2768T>C (p.Val923Ala) c.1088T>C (p.Val363Ala) | gnomAD v4 |
X | g.108621878T>G | CA413852264 | COL4A5 | c.2753T>G (p.Val918Gly) n.2209T>G c.2429T>G (p.Val810Gly) c.326T>G (p.Val109Gly) c.2768T>G (p.Val923Gly) c.1088T>G (p.Val363Gly) | |
X | g.108621879A= | CA2450696595 | COL4A5 | c.2754A= (p.Val918=) n.2210A= c.2430A= (p.Val810=) c.327A= (p.Val109=) c.2769A= (p.Val923=) c.1089A= (p.Val363=) | |
X | g.108621879A>C | CA517924481 | COL4A5 | c.2754A>C (p.Val918=) n.2210A>C c.2430A>C (p.Val810=) c.327A>C (p.Val109=) c.2769A>C (p.Val923=) c.1089A>C (p.Val363=) | |
X | g.108621879A>G | CA517924482 | COL4A5 | c.2754A>G (p.Val918=) n.2210A>G c.2430A>G (p.Val810=) c.327A>G (p.Val109=) c.2769A>G (p.Val923=) c.1089A>G (p.Val363=) | ClinVar dbSNP gnomAD v4 |
X | g.108621879A>T | CA517924483 | COL4A5 | c.2754A>T (p.Val918=) n.2210A>T c.2430A>T (p.Val810=) c.327A>T (p.Val109=) c.2769A>T (p.Val923=) c.1089A>T (p.Val363=) | |
X | g.108621880C>A | CA413852267 | COL4A5 | c.2755C>A (p.Pro919Thr) n.2211C>A c.2431C>A (p.Pro811Thr) c.328C>A (p.Pro110Thr) c.2770C>A (p.Pro924Thr) c.1090C>A (p.Pro364Thr) | |
X | g.108621880C>G | CA413852269 | COL4A5 | c.2755C>G (p.Pro919Ala) n.2211C>G c.2431C>G (p.Pro811Ala) c.328C>G (p.Pro110Ala) c.2770C>G (p.Pro924Ala) c.1090C>G (p.Pro364Ala) | |
X | g.108621880C>T | CA413852271 | COL4A5 | c.2755C>T (p.Pro919Ser) n.2211C>T c.2431C>T (p.Pro811Ser) c.328C>T (p.Pro110Ser) c.2770C>T (p.Pro924Ser) c.1090C>T (p.Pro364Ser) | |
X | g.108621881C>A | CA413852282 | COL4A5 | c.2756C>A (p.Pro919His) n.2212C>A c.2432C>A (p.Pro811His) c.329C>A (p.Pro110His) c.2771C>A (p.Pro924His) c.1091C>A (p.Pro364His) | |
X | g.108621881C>G | CA413852285 | COL4A5 | c.2756C>G (p.Pro919Arg) n.2212C>G c.2432C>G (p.Pro811Arg) c.329C>G (p.Pro110Arg) c.2771C>G (p.Pro924Arg) c.1091C>G (p.Pro364Arg) | |
X | g.108621881C>T | CA413852286 | COL4A5 | c.2756C>T (p.Pro919Leu) n.2212C>T c.2432C>T (p.Pro811Leu) c.329C>T (p.Pro110Leu) c.2771C>T (p.Pro924Leu) c.1091C>T (p.Pro364Leu) | |
X | g.108621882T>A | CA517924489 | COL4A5 | c.2757T>A (p.Pro919=) n.2213T>A c.2433T>A (p.Pro811=) c.330T>A (p.Pro110=) c.2772T>A (p.Pro924=) c.1092T>A (p.Pro364=) | |
X | g.108621882T>C | CA517924490 | COL4A5 | c.2757T>C (p.Pro919=) n.2213T>C c.2433T>C (p.Pro811=) c.330T>C (p.Pro110=) c.2772T>C (p.Pro924=) c.1092T>C (p.Pro364=) | ClinVar dbSNP |
X | g.108621882T>G | CA517924491 | COL4A5 | c.2757T>G (p.Pro919=) n.2213T>G c.2433T>G (p.Pro811=) c.330T>G (p.Pro110=) c.2772T>G (p.Pro924=) c.1092T>G (p.Pro364=) | |
X | g.108621883G>A | CA413852287 | COL4A5 | c.2758G>A (p.Gly920Ser) n.2214G>A c.2434G>A (p.Gly812Ser) c.331G>A (p.Gly111Ser) c.2773G>A (p.Gly925Ser) c.1093G>A (p.Gly365Ser) | |
X | g.108621883G>C | CA413852289 | COL4A5 | c.2758G>C (p.Gly920Arg) n.2214G>C c.2434G>C (p.Gly812Arg) c.331G>C (p.Gly111Arg) c.2773G>C (p.Gly925Arg) c.1093G>C (p.Gly365Arg) | |
X | g.108621883G>T | CA413852288 | COL4A5 | c.2758G>T (p.Gly920Cys) n.2214G>T c.2434G>T (p.Gly812Cys) c.331G>T (p.Gly111Cys) c.2773G>T (p.Gly925Cys) c.1093G>T (p.Gly365Cys) | |
X | g.108621884G>A | CA413852292 | COL4A5 | c.2759G>A (p.Gly920Asp) n.2215G>A c.2435G>A (p.Gly812Asp) c.332G>A (p.Gly111Asp) c.2774G>A (p.Gly925Asp) c.1094G>A (p.Gly365Asp) | |
X | g.108621884G>C | CA413852294 | COL4A5 | c.2759G>C (p.Gly920Ala) n.2215G>C c.2435G>C (p.Gly812Ala) c.332G>C (p.Gly111Ala) c.2774G>C (p.Gly925Ala) c.1094G>C (p.Gly365Ala) | |
X | g.108621884G>T | CA413852296 | COL4A5 | c.2759G>T (p.Gly920Val) n.2215G>T c.2435G>T (p.Gly812Val) c.332G>T (p.Gly111Val) c.2774G>T (p.Gly925Val) c.1094G>T (p.Gly365Val) | ClinVar |
X | g.108621885T>A | CA517924498 | COL4A5 | c.2760T>A (p.Gly920=) n.2216T>A c.2436T>A (p.Gly812=) c.333T>A (p.Gly111=) c.2775T>A (p.Gly925=) c.1095T>A (p.Gly365=) | |
X | g.108621885T>C | CA517924499 | COL4A5 | c.2760T>C (p.Gly920=) n.2216T>C c.2436T>C (p.Gly812=) c.333T>C (p.Gly111=) c.2775T>C (p.Gly925=) c.1095T>C (p.Gly365=) | ClinVar |
X | g.108621885T>G | CA517924500 | COL4A5 | c.2760T>G (p.Gly920=) n.2216T>G c.2436T>G (p.Gly812=) c.333T>G (p.Gly111=) c.2775T>G (p.Gly925=) c.1095T>G (p.Gly365=) | dbSNP gnomAD v2 |
X | g.108621885T= | CA2450696596 | COL4A5 | c.2760T= (p.Gly920=) n.2216T= c.2436T= (p.Gly812=) c.333T= (p.Gly111=) c.2775T= (p.Gly925=) c.1095T= (p.Gly365=) | |
X | g.108621886C>A | CA10488973 | COL4A5 | c.2761C>A (p.Leu921Ile) n.2217C>A c.2437C>A (p.Leu813Ile) c.334C>A (p.Leu112Ile) c.2776C>A (p.Leu926Ile) c.1096C>A (p.Leu366Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108621886C= | CA2450696597 | COL4A5 | c.2761C= (p.Leu921=) n.2217C= c.2437C= (p.Leu813=) c.334C= (p.Leu112=) c.2776C= (p.Leu926=) c.1096C= (p.Leu366=) | |
X | g.108621886C>G | CA10488974 | COL4A5 | c.2761C>G (p.Leu921Val) n.2217C>G c.2437C>G (p.Leu813Val) c.334C>G (p.Leu112Val) c.2776C>G (p.Leu926Val) c.1096C>G (p.Leu366Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108621886C>T | CA413852302 | COL4A5 | c.2761C>T (p.Leu921Phe) n.2217C>T c.2437C>T (p.Leu813Phe) c.334C>T (p.Leu112Phe) c.2776C>T (p.Leu926Phe) c.1096C>T (p.Leu366Phe) | |
X | g.108621887T>A | CA413852305 | COL4A5 | c.2762T>A (p.Leu921His) n.2218T>A c.2438T>A (p.Leu813His) c.335T>A (p.Leu112His) c.2777T>A (p.Leu926His) c.1097T>A (p.Leu366His) | gnomAD v4 |
X | g.108621887T>C | CA413852307 | COL4A5 | c.2762T>C (p.Leu921Pro) n.2218T>C c.2438T>C (p.Leu813Pro) c.335T>C (p.Leu112Pro) c.2777T>C (p.Leu926Pro) c.1097T>C (p.Leu366Pro) | |
X | g.108621887T>G | CA413852308 | COL4A5 | c.2762T>G (p.Leu921Arg) n.2218T>G c.2438T>G (p.Leu813Arg) c.335T>G (p.Leu112Arg) c.2777T>G (p.Leu926Arg) c.1097T>G (p.Leu366Arg) | |
X | g.108621888T>A | CA517924509 | COL4A5 | c.2763T>A (p.Leu921=) n.2219T>A c.2439T>A (p.Leu813=) c.336T>A (p.Leu112=) c.2778T>A (p.Leu926=) c.1098T>A (p.Leu366=) | gnomAD v4 |
X | g.108621888T>C | CA517924507 | COL4A5 | c.2763T>C (p.Leu921=) n.2219T>C c.2439T>C (p.Leu813=) c.336T>C (p.Leu112=) c.2778T>C (p.Leu926=) c.1098T>C (p.Leu366=) | |
X | g.108621888T>G | CA517924506 | COL4A5 | c.2763T>G (p.Leu921=) n.2219T>G c.2439T>G (p.Leu813=) c.336T>G (p.Leu112=) c.2778T>G (p.Leu926=) c.1098T>G (p.Leu366=) | |
X | g.108621888_108621889delinsTA | CA2450696598 | COL4A5 | c.2763_2764delinsTA (p.Leu921=) n.2219_2220delinsTA c.2439_2440delinsTA (p.Leu813=) c.336_337delinsTA (p.Leu112=) c.2778_2779delinsTA (p.Leu926=) c.1098_1099delinsTA (p.Leu366=) | |
X | g.108621889A= | CA2450696599 | COL4A5 | c.2764A= (p.Lys922=) n.2220A= c.2440A= (p.Lys814=) c.337A= (p.Lys113=) c.2779A= (p.Lys927=) c.1099A= (p.Lys367=) | |
X | g.108621889A>C | CA413852311 | COL4A5 | c.2764A>C (p.Lys922Gln) n.2220A>C c.2440A>C (p.Lys814Gln) c.337A>C (p.Lys113Gln) c.2779A>C (p.Lys927Gln) c.1099A>C (p.Lys367Gln) | |
X | g.108621889A>G | CA413852309 | COL4A5 | c.2764A>G (p.Lys922Glu) n.2220A>G c.2440A>G (p.Lys814Glu) c.337A>G (p.Lys113Glu) c.2779A>G (p.Lys927Glu) c.1099A>G (p.Lys367Glu) | |
X | g.108621889A>T | CA413852314 | COL4A5 | c.2764A>T (p.Lys922Ter) n.2220A>T c.2440A>T (p.Lys814Ter) c.337A>T (p.Lys113Ter) c.2779A>T (p.Lys927Ter) c.1099A>T (p.Lys367Ter) | ClinVar dbSNP |
X | g.108621891del | CA10588940 | COL4A5 | c.2766del (p.Gly923ValfsTer?) n.2222del c.2442del (p.Gly815ValfsTer?) c.339del (p.Gly114ValfsTer?) c.2781del (p.Gly928ValfsTer?) c.1101del (p.Gly368ValfsTer?) | ClinVar dbSNP |
X | g.108621890A>C | CA413852324 | COL4A5 | c.2765A>C (p.Lys922Thr) n.2221A>C c.2441A>C (p.Lys814Thr) c.338A>C (p.Lys113Thr) c.2780A>C (p.Lys927Thr) c.1100A>C (p.Lys367Thr) | |
X | g.108621890A>G | CA413852326 | COL4A5 | c.2765A>G (p.Lys922Arg) n.2221A>G c.2441A>G (p.Lys814Arg) c.338A>G (p.Lys113Arg) c.2780A>G (p.Lys927Arg) c.1100A>G (p.Lys367Arg) | |
X | g.108621890A>T | CA413852328 | COL4A5 | c.2765A>T (p.Lys922Ile) n.2221A>T c.2441A>T (p.Lys814Ile) c.338A>T (p.Lys113Ile) c.2780A>T (p.Lys927Ile) c.1100A>T (p.Lys367Ile) | COSMIC COSMIC |
X | g.108621890_108621891delinsTT | CA891843945 | COL4A5 | c.2765_2766delinsTT (p.Lys922Ile) n.2221_2222delinsTT c.2441_2442delinsTT (p.Lys814Ile) c.338_339delinsTT (p.Lys113Ile) c.2780_2781delinsTT (p.Lys927Ile) c.1100_1101delinsTT (p.Lys367Ile) | |
X | g.108621895_108621906del | CA2697544685 | COL4A5 | c.2767+3_2767+14del n.2223+3_2223+14del c.2443+3_2443+14del c.340+3_340+14del c.2782+3_2782+14del c.1102+3_1102+14del | ClinVar |
X | g.108621891A>C | CA413852330 | COL4A5 | c.2766A>C (p.Lys922Asn) n.2222A>C c.2442A>C (p.Lys814Asn) c.339A>C (p.Lys113Asn) c.2781A>C (p.Lys927Asn) c.1101A>C (p.Lys367Asn) | |
X | g.108621891A>G | CA517924514 | COL4A5 | c.2766A>G (p.Lys922=) n.2222A>G c.2442A>G (p.Lys814=) c.339A>G (p.Lys113=) c.2781A>G (p.Lys927=) c.1101A>G (p.Lys367=) | |
X | g.108621891A>T | CA413852331 | COL4A5 | c.2766A>T (p.Lys922Asn) n.2222A>T c.2442A>T (p.Lys814Asn) c.339A>T (p.Lys113Asn) c.2781A>T (p.Lys927Asn) c.1101A>T (p.Lys367Asn) | |
X | g.108621892G>A | CA413852333 | COL4A5 | c.2767G>A (p.Gly923Ser) n.2223G>A c.2443G>A (p.Gly815Ser) c.340G>A (p.Gly114Ser) c.2782G>A (p.Gly928Ser) c.1102G>A (p.Gly368Ser) | |
X | g.108621892G>C | CA413852339 | COL4A5 | c.2767G>C (p.Gly923Arg) n.2223G>C c.2443G>C (p.Gly815Arg) c.340G>C (p.Gly114Arg) c.2782G>C (p.Gly928Arg) c.1102G>C (p.Gly368Arg) | |
X | g.108621892G= | CA2450696600 | COL4A5 | c.2767G= (p.Gly923=) n.2223G= c.2443G= (p.Gly815=) c.340G= (p.Gly114=) c.2782G= (p.Gly928=) c.1102G= (p.Gly368=) | |
X | g.108621892G>T | CA413852350 | COL4A5 | c.2767G>T (p.Gly923Cys) n.2223G>T c.2443G>T (p.Gly815Cys) c.340G>T (p.Gly114Cys) c.2782G>T (p.Gly928Cys) c.1102G>T (p.Gly368Cys) | |
X | g.108621893G>A | CA413852353 | COL4A5 | c.2767+1G>A (n.2767+1G>A) n.2223+1G>A c.2443+1G>A (n.2443+1G>A) c.340+1G>A (n.340+1G>A) c.2782+1G>A (n.2782+1G>A) c.1102+1G>A (n.1102+1G>A) | |
X | g.108621893G>C | CA413852358 | COL4A5 | c.2767+1G>C (n.2767+1G>C) n.2223+1G>C c.2443+1G>C (n.2443+1G>C) c.340+1G>C (n.340+1G>C) c.2782+1G>C (n.2782+1G>C) c.1102+1G>C (n.1102+1G>C) | ClinVar dbSNP |
X | g.108621893G= | CA2450696602 | COL4A5 | c.2767+1G= (n.2767+1G=) n.2223+1G= c.2443+1G= (n.2443+1G=) c.340+1G= (n.340+1G=) c.2782+1G= (n.2782+1G=) c.1102+1G= (n.1102+1G=) | |
X | g.108621893G>T | CA413852363 | COL4A5 | c.2767+1G>T (n.2767+1G>T) n.2223+1G>T c.2443+1G>T (n.2443+1G>T) c.340+1G>T (n.340+1G>T) c.2782+1G>T (n.2782+1G>T) c.1102+1G>T (n.1102+1G>T) | |
X | g.108621893_108621894delinsGT | CA2450696601 | COL4A5 | c.2767+1_2767+2delinsGT (n.2767+1_2767+2delinsGT) n.2223+1_2223+2delinsGT c.2443+1_2443+2delinsGT (n.2443+1_2443+2delinsGT) c.340+1_340+2delinsGT (n.340+1_340+2delinsGT) c.2782+1_2782+2delinsGT (n.2782+1_2782+2delinsGT) c.1102+1_1102+2delinsGT (n.1102+1_1102+2delinsGT) | |
X | g.108621894del | CA258756 | COL4A5 | c.2767+2del (n.2767+2del) n.2223+2del c.2443+2del (n.2443+2del) c.340+2del (n.340+2del) c.2782+2del (n.2782+2del) c.1102+2del (n.1102+2del) | dbSNP |
X | g.108621894T>A | CA413852376 | COL4A5 | c.2767+2T>A (n.2767+2T>A) n.2223+2T>A c.2443+2T>A (n.2443+2T>A) c.340+2T>A (n.340+2T>A) c.2782+2T>A (n.2782+2T>A) c.1102+2T>A (n.1102+2T>A) | |
X | g.108621894T>C | CA413852375 | COL4A5 | c.2767+2T>C (n.2767+2T>C) n.2223+2T>C c.2443+2T>C (n.2443+2T>C) c.340+2T>C (n.340+2T>C) c.2782+2T>C (n.2782+2T>C) c.1102+2T>C (n.1102+2T>C) | |
X | g.108621894T>G | CA413852367 | COL4A5 | c.2767+2T>G (n.2767+2T>G) n.2223+2T>G c.2443+2T>G (n.2443+2T>G) c.340+2T>G (n.340+2T>G) c.2782+2T>G (n.2782+2T>G) c.1102+2T>G (n.1102+2T>G) | |
X | g.108621896A>G | CA2580100196 | COL4A5 | c.2767+4A>G (n.2767+4A>G) n.2223+4A>G c.2443+4A>G (n.2443+4A>G) c.340+4A>G (n.340+4A>G) c.2782+4A>G (n.2782+4A>G) c.1102+4A>G (n.1102+4A>G) | ClinVar |
X | g.108621897del | CA2543116764 | COL4A5 | c.2767+5del (n.2767+5del) n.2223+5del c.2443+5del (n.2443+5del) c.340+5del (n.340+5del) c.2782+5del (n.2782+5del) c.1102+5del (n.1102+5del) | |
X | g.108621897T>A | CA2579676558 | COL4A5 | c.2767+5T>A (n.2767+5T>A) n.2223+5T>A c.2443+5T>A (n.2443+5T>A) c.340+5T>A (n.340+5T>A) c.2782+5T>A (n.2782+5T>A) c.1102+5T>A (n.1102+5T>A) | |
X | g.108621899del | CA2694440151 | COL4A5 | c.2767+7del (n.2767+7del) n.2223+7del c.2443+7del (n.2443+7del) c.340+7del (n.340+7del) c.2782+7del (n.2782+7del) c.1102+7del (n.1102+7del) | gnomAD v4 |
X | g.108621899A= | CA2450696603 | COL4A5 | c.2767+7A= (n.2767+7A=) n.2223+7A= c.2443+7A= (n.2443+7A=) c.340+7A= (n.340+7A=) c.2782+7A= (n.2782+7A=) c.1102+7A= (n.1102+7A=) | |
X | g.108621899A>G | CA10488975 | COL4A5 | c.2767+7A>G (n.2767+7A>G) n.2223+7A>G c.2443+7A>G (n.2443+7A>G) c.340+7A>G (n.340+7A>G) c.2782+7A>G (n.2782+7A>G) c.1102+7A>G (n.1102+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |