Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.227055933del | CA647524483 | COL4A4 | c.2716+16del (n.2716+16del) c.2161+16del (n.2161+16del) c.2608+16del (n.2608+16del) c.1042+16del (n.1042+16del) n.3026+16del n.3042+16del | gnomAD v4 COSMIC |
2 | g.227055932A= | CA1332746311 | COL4A4 | c.2716+13T= (n.2716+13T=) c.2161+13T= (n.2161+13T=) c.2608+13T= (n.2608+13T=) c.1042+13T= (n.1042+13T=) n.3026+13T= n.3042+13T= | |
2 | g.227055932A>G | CA765669473 | COL4A4 | c.2716+13T>C (n.2716+13T>C) c.2161+13T>C (n.2161+13T>C) c.2608+13T>C (n.2608+13T>C) c.1042+13T>C (n.1042+13T>C) n.3026+13T>C n.3042+13T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055933A= | CA1332746312 | COL4A4 | c.2716+12T= (n.2716+12T=) c.2161+12T= (n.2161+12T=) c.2608+12T= (n.2608+12T=) c.1042+12T= (n.1042+12T=) n.3026+12T= n.3042+12T= | |
2 | g.227055933A>T | CA66585009 | COL4A4 | c.2716+12T>A (n.2716+12T>A) c.2161+12T>A (n.2161+12T>A) c.2608+12T>A (n.2608+12T>A) c.1042+12T>A (n.1042+12T>A) n.3026+12T>A n.3042+12T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055934G>T | CA2663408039 | COL4A4 | c.2716+11C>A (n.2716+11C>A) c.2161+11C>A (n.2161+11C>A) c.2608+11C>A (n.2608+11C>A) c.1042+11C>A (n.1042+11C>A) n.3026+11C>A n.3042+11C>A | ClinVar gnomAD v4 |
2 | g.227055935C= | CA1332746313 | COL4A4 | c.2716+10G= (n.2716+10G=) c.2161+10G= (n.2161+10G=) c.2608+10G= (n.2608+10G=) c.1042+10G= (n.1042+10G=) n.3026+10G= n.3042+10G= | |
2 | g.227055935C>T | CA765669475 | COL4A4 | c.2716+10G>A (n.2716+10G>A) c.2161+10G>A (n.2161+10G>A) c.2608+10G>A (n.2608+10G>A) c.1042+10G>A (n.1042+10G>A) n.3026+10G>A n.3042+10G>A | ClinVar dbSNP gnomAD v4 |
2 | g.227055936A= | CA1332746314 | COL4A4 | c.2716+9T= (n.2716+9T=) c.2161+9T= (n.2161+9T=) c.2608+9T= (n.2608+9T=) c.1042+9T= (n.1042+9T=) n.3026+9T= n.3042+9T= | |
2 | g.227055936A>C | CA539875195 | COL4A4 | c.2716+9T>G (n.2716+9T>G) c.2161+9T>G (n.2161+9T>G) c.2608+9T>G (n.2608+9T>G) c.1042+9T>G (n.1042+9T>G) n.3026+9T>G n.3042+9T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227055937C>T | CA2663408040 | COL4A4 | c.2716+8G>A (n.2716+8G>A) c.2161+8G>A (n.2161+8G>A) c.2608+8G>A (n.2608+8G>A) c.1042+8G>A (n.1042+8G>A) n.3026+8G>A n.3042+8G>A | gnomAD v4 |
2 | g.227055938T>A | CA2663408041 | COL4A4 | c.2716+7A>T (n.2716+7A>T) c.2161+7A>T (n.2161+7A>T) c.2608+7A>T (n.2608+7A>T) c.1042+7A>T (n.1042+7A>T) n.3026+7A>T n.3042+7A>T | gnomAD v4 |
2 | g.227055938T>C | CA1043062238 | COL4A4 | c.2716+7A>G (n.2716+7A>G) c.2161+7A>G (n.2161+7A>G) c.2608+7A>G (n.2608+7A>G) c.1042+7A>G (n.1042+7A>G) n.3026+7A>G n.3042+7A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055938T= | CA1332746315 | COL4A4 | c.2716+7A= (n.2716+7A=) c.2161+7A= (n.2161+7A=) c.2608+7A= (n.2608+7A=) c.1042+7A= (n.1042+7A=) n.3026+7A= n.3042+7A= | |
2 | g.227055939A= | CA1332746316 | COL4A4 | c.2716+6T= (n.2716+6T=) c.2161+6T= (n.2161+6T=) c.2608+6T= (n.2608+6T=) c.1042+6T= (n.1042+6T=) n.3026+6T= n.3042+6T= | |
2 | g.227055939A>G | CA539875197 | COL4A4 | c.2716+6T>C (n.2716+6T>C) c.2161+6T>C (n.2161+6T>C) c.2608+6T>C (n.2608+6T>C) c.1042+6T>C (n.1042+6T>C) n.3026+6T>C n.3042+6T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227055940C= | CA1332746317 | COL4A4 | c.2716+5G= (n.2716+5G=) c.2161+5G= (n.2161+5G=) c.2608+5G= (n.2608+5G=) c.1042+5G= (n.1042+5G=) n.3026+5G= n.3042+5G= | |
2 | g.227055940C>T | CA539875199 | COL4A4 | c.2716+5G>A (n.2716+5G>A) c.2161+5G>A (n.2161+5G>A) c.2608+5G>A (n.2608+5G>A) c.1042+5G>A (n.1042+5G>A) n.3026+5G>A n.3042+5G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227055941C>A | CA2577263537 | COL4A4 | c.2716+4G>T (n.2716+4G>T) c.2161+4G>T (n.2161+4G>T) c.2608+4G>T (n.2608+4G>T) c.1042+4G>T (n.1042+4G>T) n.3026+4G>T n.3042+4G>T | gnomAD v4 |
2 | g.227055941C>G | CA2663408042 | COL4A4 | c.2716+4G>C (n.2716+4G>C) c.2161+4G>C (n.2161+4G>C) c.2608+4G>C (n.2608+4G>C) c.1042+4G>C (n.1042+4G>C) n.3026+4G>C n.3042+4G>C | gnomAD v4 |
2 | g.227055942T>C | CA2663408043 | COL4A4 | c.2716+3A>G (n.2716+3A>G) c.2161+3A>G (n.2161+3A>G) c.2608+3A>G (n.2608+3A>G) c.1042+3A>G (n.1042+3A>G) n.3026+3A>G n.3042+3A>G | gnomAD v4 |
2 | g.227055943A>C | CA350840734 | COL4A4 | c.2716+2T>G (n.2716+2T>G) c.2161+2T>G (n.2161+2T>G) c.2608+2T>G (n.2608+2T>G) c.1042+2T>G (n.1042+2T>G) n.3026+2T>G n.3042+2T>G | |
2 | g.227055943A>G | CA350840738 | COL4A4 | c.2716+2T>C (n.2716+2T>C) c.2161+2T>C (n.2161+2T>C) c.2608+2T>C (n.2608+2T>C) c.1042+2T>C (n.1042+2T>C) n.3026+2T>C n.3042+2T>C | |
2 | g.227055943A>T | CA350840736 | COL4A4 | c.2716+2T>A (n.2716+2T>A) c.2161+2T>A (n.2161+2T>A) c.2608+2T>A (n.2608+2T>A) c.1042+2T>A (n.1042+2T>A) n.3026+2T>A n.3042+2T>A | ClinVar |
2 | g.227055944C>A | CA350840740 | COL4A4 | c.2716+1G>T (n.2716+1G>T) c.2161+1G>T (n.2161+1G>T) c.2608+1G>T (n.2608+1G>T) c.1042+1G>T (n.1042+1G>T) n.3026+1G>T n.3042+1G>T | |
2 | g.227055944C>G | CA350840742 | COL4A4 | c.2716+1G>C (n.2716+1G>C) c.2161+1G>C (n.2161+1G>C) c.2608+1G>C (n.2608+1G>C) c.1042+1G>C (n.1042+1G>C) n.3026+1G>C n.3042+1G>C | |
2 | g.227055944C>T | CA350840744 | COL4A4 | c.2716+1G>A (n.2716+1G>A) c.2161+1G>A (n.2161+1G>A) c.2608+1G>A (n.2608+1G>A) c.1042+1G>A (n.1042+1G>A) n.3026+1G>A n.3042+1G>A | gnomAD v4 COSMIC |
2 | g.227055946dup | CA2840395804 | COL4A4 | c.2716+1dup c.2161+1dup c.2608+1dup c.1042+1dup n.3026+1dup n.3042+1dup | |
2 | g.227055944_227055946dup | CA2663408044 | COL4A4 | c.2715_2716+1dup c.2160_2161+1dup c.2607_2608+1dup c.1041_1042+1dup n.3025_3026+1dup n.3041_3042+1dup | gnomAD v4 |
2 | g.227055945C>A | CA350840746 | COL4A4 | c.2716G>T (p.Gly906Ter) c.2161G>T (p.Gly721Ter) c.2608G>T (p.Gly870Ter) c.1042G>T (p.Gly348Ter) n.3026G>T n.3042G>T | |
2 | g.227055945C= | CA1332746318 | COL4A4 | c.2716G= (p.Gly906=) c.2161G= (p.Gly721=) c.2608G= (p.Gly870=) c.1042G= (p.Gly348=) n.3026G= n.3042G= | |
2 | g.227055945C>G | CA350840747 | COL4A4 | c.2716G>C (p.Gly906Arg) c.2161G>C (p.Gly721Arg) c.2608G>C (p.Gly870Arg) c.1042G>C (p.Gly348Arg) n.3026G>C n.3042G>C | |
2 | g.227055945C>T | CA350840749 | COL4A4 | c.2716G>A (p.Gly906Arg) c.2161G>A (p.Gly721Arg) c.2608G>A (p.Gly870Arg) c.1042G>A (p.Gly348Arg) n.3026G>A n.3042G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.227055946C>A | CA350840750 | COL4A4 | c.2715G>T (p.Lys905Asn) c.2160G>T (p.Lys720Asn) c.2607G>T (p.Lys869Asn) c.1041G>T (p.Lys347Asn) n.3025G>T n.3041G>T | |
2 | g.227055946C>G | CA350840752 | COL4A4 | c.2715G>C (p.Lys905Asn) c.2160G>C (p.Lys720Asn) c.2607G>C (p.Lys869Asn) c.1041G>C (p.Lys347Asn) n.3025G>C n.3041G>C | |
2 | g.227055946C>T | CA431499345 | COL4A4 | c.2715G>A (p.Lys905=) c.2160G>A (p.Lys720=) c.2607G>A (p.Lys869=) c.1041G>A (p.Lys347=) n.3025G>A n.3041G>A | |
2 | g.227055946_227055947dup | CA2586971462 | COL4A4 | c.2714_2715dup (p.Gly906ArgfsTer?) c.2159_2160dup (p.Gly721ArgfsTer?) c.2606_2607dup (p.Gly870ArgfsTer?) c.1040_1041dup (p.Gly348ArgfsTer?) n.3024_3025dup n.3040_3041dup | |
2 | g.227055947T>A | CA350840753 | COL4A4 | c.2714A>T (p.Lys905Met) c.2159A>T (p.Lys720Met) c.2606A>T (p.Lys869Met) c.1040A>T (p.Lys347Met) n.3024A>T n.3040A>T | |
2 | g.227055947T>C | CA350840755 | COL4A4 | c.2714A>G (p.Lys905Arg) c.2159A>G (p.Lys720Arg) c.2606A>G (p.Lys869Arg) c.1040A>G (p.Lys347Arg) n.3024A>G n.3040A>G | |
2 | g.227055947T>G | CA350840756 | COL4A4 | c.2714A>C (p.Lys905Thr) c.2159A>C (p.Lys720Thr) c.2606A>C (p.Lys869Thr) c.1040A>C (p.Lys347Thr) n.3024A>C n.3040A>C | |
2 | g.227055948T>A | CA350840758 | COL4A4 | c.2713A>T (p.Lys905Ter) c.2158A>T (p.Lys720Ter) c.2605A>T (p.Lys869Ter) c.1039A>T (p.Lys347Ter) n.3023A>T n.3039A>T | |
2 | g.227055948T>C | CA350840761 | COL4A4 | c.2713A>G (p.Lys905Glu) c.2158A>G (p.Lys720Glu) c.2605A>G (p.Lys869Glu) c.1039A>G (p.Lys347Glu) n.3023A>G n.3039A>G | |
2 | g.227055948T>G | CA350840760 | COL4A4 | c.2713A>C (p.Lys905Gln) c.2158A>C (p.Lys720Gln) c.2605A>C (p.Lys869Gln) c.1039A>C (p.Lys347Gln) n.3023A>C n.3039A>C | |
2 | g.227055949T>A | CA431499346 | COL4A4 | c.2712A>T (p.Pro904=) c.2157A>T (p.Pro719=) c.2604A>T (p.Pro868=) c.1038A>T (p.Pro346=) n.3022A>T n.3038A>T | |
2 | g.227055949T>C | CA431499347 | COL4A4 | c.2712A>G (p.Pro904=) c.2157A>G (p.Pro719=) c.2604A>G (p.Pro868=) c.1038A>G (p.Pro346=) n.3022A>G n.3038A>G | ClinVar dbSNP |
2 | g.227055949T>G | CA431499348 | COL4A4 | c.2712A>C (p.Pro904=) c.2157A>C (p.Pro719=) c.2604A>C (p.Pro868=) c.1038A>C (p.Pro346=) n.3022A>C n.3038A>C | dbSNP |
2 | g.227055949T= | CA1332746319 | COL4A4 | c.2712A= (p.Pro904=) c.2157A= (p.Pro719=) c.2604A= (p.Pro868=) c.1038A= (p.Pro346=) n.3022A= n.3038A= | |
2 | g.227055950G>A | CA350840763 | COL4A4 | c.2711C>T (p.Pro904Leu) c.2156C>T (p.Pro719Leu) c.2603C>T (p.Pro868Leu) c.1037C>T (p.Pro346Leu) n.3021C>T n.3037C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055950G>C | CA350840765 | COL4A4 | c.2711C>G (p.Pro904Arg) c.2156C>G (p.Pro719Arg) c.2603C>G (p.Pro868Arg) c.1037C>G (p.Pro346Arg) n.3021C>G n.3037C>G | |
2 | g.227055950G= | CA1332746320 | COL4A4 | c.2711C= (p.Pro904=) c.2156C= (p.Pro719=) c.2603C= (p.Pro868=) c.1037C= (p.Pro346=) n.3021C= n.3037C= | |
2 | g.227055950G>T | CA350840766 | COL4A4 | c.2711C>A (p.Pro904Gln) c.2156C>A (p.Pro719Gln) c.2603C>A (p.Pro868Gln) c.1037C>A (p.Pro346Gln) n.3021C>A n.3037C>A | |
2 | g.227055951G>A | CA350840768 | COL4A4 | c.2710C>T (p.Pro904Ser) c.2155C>T (p.Pro719Ser) c.2602C>T (p.Pro868Ser) c.1036C>T (p.Pro346Ser) n.3020C>T n.3036C>T | |
2 | g.227055951G>C | CA2144742 | COL4A4 | c.2710C>G (p.Pro904Ala) c.2155C>G (p.Pro719Ala) c.2602C>G (p.Pro868Ala) c.1036C>G (p.Pro346Ala) n.3020C>G n.3036C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227055951G= | CA1332746321 | COL4A4 | c.2710C= (p.Pro904=) c.2155C= (p.Pro719=) c.2602C= (p.Pro868=) c.1036C= (p.Pro346=) n.3020C= n.3036C= | |
2 | g.227055951G>T | CA350840770 | COL4A4 | c.2710C>A (p.Pro904Thr) c.2155C>A (p.Pro719Thr) c.2602C>A (p.Pro868Thr) c.1036C>A (p.Pro346Thr) n.3020C>A n.3036C>A | |
2 | g.227055952A>C | CA431499349 | COL4A4 | c.2709T>G (p.Gly903=) c.2154T>G (p.Gly718=) c.2601T>G (p.Gly867=) c.1035T>G (p.Gly345=) n.3019T>G n.3035T>G | |
2 | g.227055952A>G | CA431499350 | COL4A4 | c.2709T>C (p.Gly903=) c.2154T>C (p.Gly718=) c.2601T>C (p.Gly867=) c.1035T>C (p.Gly345=) n.3019T>C n.3035T>C | |
2 | g.227055952A>T | CA431499351 | COL4A4 | c.2709T>A (p.Gly903=) c.2154T>A (p.Gly718=) c.2601T>A (p.Gly867=) c.1035T>A (p.Gly345=) n.3019T>A n.3035T>A | ClinVar dbSNP gnomAD v4 |
2 | g.227055953C>A | CA350840775 | COL4A4 | c.2708G>T (p.Gly903Val) c.2153G>T (p.Gly718Val) c.2600G>T (p.Gly867Val) c.1034G>T (p.Gly345Val) n.3018G>T n.3034G>T | gnomAD v4 |
2 | g.227055953C>G | CA350840773 | COL4A4 | c.2708G>C (p.Gly903Ala) c.2153G>C (p.Gly718Ala) c.2600G>C (p.Gly867Ala) c.1034G>C (p.Gly345Ala) n.3018G>C n.3034G>C | |
2 | g.227055953C>T | CA350840772 | COL4A4 | c.2708G>A (p.Gly903Asp) c.2153G>A (p.Gly718Asp) c.2600G>A (p.Gly867Asp) c.1034G>A (p.Gly345Asp) n.3018G>A n.3034G>A | |
2 | g.227055954C>A | CA350840777 | COL4A4 | c.2707G>T (p.Gly903Cys) c.2152G>T (p.Gly718Cys) c.2599G>T (p.Gly867Cys) c.1033G>T (p.Gly345Cys) n.3017G>T n.3033G>T | |
2 | g.227055954C>G | CA350840778 | COL4A4 | c.2707G>C (p.Gly903Arg) c.2152G>C (p.Gly718Arg) c.2599G>C (p.Gly867Arg) c.1033G>C (p.Gly345Arg) n.3017G>C n.3033G>C | |
2 | g.227055954C>T | CA350840779 | COL4A4 | c.2707G>A (p.Gly903Ser) c.2152G>A (p.Gly718Ser) c.2599G>A (p.Gly867Ser) c.1033G>A (p.Gly345Ser) n.3017G>A n.3033G>A | |
2 | g.227055955T>A | CA431499352 | COL4A4 | c.2706A>T (p.Pro902=) c.2151A>T (p.Pro717=) c.2598A>T (p.Pro866=) c.1032A>T (p.Pro344=) n.3016A>T n.3032A>T | |
2 | g.227055955T>C | CA431499353 | COL4A4 | c.2706A>G (p.Pro902=) c.2151A>G (p.Pro717=) c.2598A>G (p.Pro866=) c.1032A>G (p.Pro344=) n.3016A>G n.3032A>G | |
2 | g.227055955T>G | CA431499354 | COL4A4 | c.2706A>C (p.Pro902=) c.2151A>C (p.Pro717=) c.2598A>C (p.Pro866=) c.1032A>C (p.Pro344=) n.3016A>C n.3032A>C | |
2 | g.227055956G>A | CA350840782 | COL4A4 | c.2705C>T (p.Pro902Leu) c.2150C>T (p.Pro717Leu) c.2597C>T (p.Pro866Leu) c.1031C>T (p.Pro344Leu) n.3015C>T n.3031C>T | |
2 | g.227055956G>C | CA350840783 | COL4A4 | c.2705C>G (p.Pro902Arg) c.2150C>G (p.Pro717Arg) c.2597C>G (p.Pro866Arg) c.1031C>G (p.Pro344Arg) n.3015C>G n.3031C>G | |
2 | g.227055956G>T | CA350840784 | COL4A4 | c.2705C>A (p.Pro902Gln) c.2150C>A (p.Pro717Gln) c.2597C>A (p.Pro866Gln) c.1031C>A (p.Pro344Gln) n.3015C>A n.3031C>A | |
2 | g.227055957G>A | CA350840785 | COL4A4 | c.2704C>T (p.Pro902Ser) c.2149C>T (p.Pro717Ser) c.2596C>T (p.Pro866Ser) c.1030C>T (p.Pro344Ser) n.3014C>T n.3030C>T | |
2 | g.227055957G>C | CA350840787 | COL4A4 | c.2704C>G (p.Pro902Ala) c.2149C>G (p.Pro717Ala) c.2596C>G (p.Pro866Ala) c.1030C>G (p.Pro344Ala) n.3014C>G n.3030C>G | |
2 | g.227055957G>T | CA350840786 | COL4A4 | c.2704C>A (p.Pro902Thr) c.2149C>A (p.Pro717Thr) c.2596C>A (p.Pro866Thr) c.1030C>A (p.Pro344Thr) n.3014C>A n.3030C>A | |
2 | g.227055958A>C | CA431499355 | COL4A4 | c.2703T>G (p.Pro901=) c.2148T>G (p.Pro716=) c.2595T>G (p.Pro865=) c.1029T>G (p.Pro343=) n.3013T>G n.3029T>G | |
2 | g.227055958A>G | CA431499356 | COL4A4 | c.2703T>C (p.Pro901=) c.2148T>C (p.Pro716=) c.2595T>C (p.Pro865=) c.1029T>C (p.Pro343=) n.3013T>C n.3029T>C | |
2 | g.227055958A>T | CA431499357 | COL4A4 | c.2703T>A (p.Pro901=) c.2148T>A (p.Pro716=) c.2595T>A (p.Pro865=) c.1029T>A (p.Pro343=) n.3013T>A n.3029T>A | |
2 | g.227055959G>A | CA350840788 | COL4A4 | c.2702C>T (p.Pro901Leu) c.2147C>T (p.Pro716Leu) c.2594C>T (p.Pro865Leu) c.1028C>T (p.Pro343Leu) n.3012C>T n.3028C>T | |
2 | g.227055959G>C | CA350840789 | COL4A4 | c.2702C>G (p.Pro901Arg) c.2147C>G (p.Pro716Arg) c.2594C>G (p.Pro865Arg) c.1028C>G (p.Pro343Arg) n.3012C>G n.3028C>G | |
2 | g.227055959G>T | CA350840791 | COL4A4 | c.2702C>A (p.Pro901His) c.2147C>A (p.Pro716His) c.2594C>A (p.Pro865His) c.1028C>A (p.Pro343His) n.3012C>A n.3028C>A | |
2 | g.227055960G>A | CA66585022 | COL4A4 | c.2701C>T (p.Pro901Ser) c.2146C>T (p.Pro716Ser) c.2593C>T (p.Pro865Ser) c.1027C>T (p.Pro343Ser) n.3011C>T n.3027C>T | dbSNP gnomAD v4 |
2 | g.227055960G>C | CA66585029 | COL4A4 | c.2701C>G (p.Pro901Ala) c.2146C>G (p.Pro716Ala) c.2593C>G (p.Pro865Ala) c.1027C>G (p.Pro343Ala) n.3011C>G n.3027C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055960G= | CA1332746322 | COL4A4 | c.2701C= (p.Pro901=) c.2146C= (p.Pro716=) c.2593C= (p.Pro865=) c.1027C= (p.Pro343=) n.3011C= n.3027C= | |
2 | g.227055960G>T | CA350840793 | COL4A4 | c.2701C>A (p.Pro901Thr) c.2146C>A (p.Pro716Thr) c.2593C>A (p.Pro865Thr) c.1027C>A (p.Pro343Thr) n.3011C>A n.3027C>A | |
2 | g.227055961A>C | CA431499358 | COL4A4 | c.2700T>G (p.Gly900=) c.2145T>G (p.Gly715=) c.2592T>G (p.Gly864=) c.1026T>G (p.Gly342=) n.3010T>G n.3026T>G | |
2 | g.227055961A>G | CA431499359 | COL4A4 | c.2700T>C (p.Gly900=) c.2145T>C (p.Gly715=) c.2592T>C (p.Gly864=) c.1026T>C (p.Gly342=) n.3010T>C n.3026T>C | gnomAD v4 |
2 | g.227055961A>T | CA431499360 | COL4A4 | c.2700T>A (p.Gly900=) c.2145T>A (p.Gly715=) c.2592T>A (p.Gly864=) c.1026T>A (p.Gly342=) n.3010T>A n.3026T>A | |
2 | g.227055962C>A | CA350840796 | COL4A4 | c.2699G>T (p.Gly900Val) c.2144G>T (p.Gly715Val) c.2591G>T (p.Gly864Val) c.1025G>T (p.Gly342Val) n.3009G>T n.3025G>T | |
2 | g.227055962C= | CA1332746323 | COL4A4 | c.2699G= (p.Gly900=) c.2144G= (p.Gly715=) c.2591G= (p.Gly864=) c.1025G= (p.Gly342=) n.3009G= n.3025G= | |
2 | g.227055962C>G | CA350840797 | COL4A4 | c.2699G>C (p.Gly900Ala) c.2144G>C (p.Gly715Ala) c.2591G>C (p.Gly864Ala) c.1025G>C (p.Gly342Ala) n.3009G>C n.3025G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055962C>T | CA350840798 | COL4A4 | c.2699G>A (p.Gly900Asp) c.2144G>A (p.Gly715Asp) c.2591G>A (p.Gly864Asp) c.1025G>A (p.Gly342Asp) n.3009G>A n.3025G>A | |
2 | g.227055963del | CA2580065876 | COL4A4 | c.2699del (p.Gly900ValfsTer?) c.2144del (p.Gly715ValfsTer?) c.2591del (p.Gly864ValfsTer?) c.1025del (p.Gly342ValfsTer?) n.3009del n.3025del | ClinVar |
2 | g.227055963C>A | CA350840800 | COL4A4 | c.2698G>T (p.Gly900Cys) c.2143G>T (p.Gly715Cys) c.2590G>T (p.Gly864Cys) c.1024G>T (p.Gly342Cys) n.3008G>T n.3024G>T | ClinVar gnomAD v4 |
2 | g.227055963C>G | CA350840801 | COL4A4 | c.2698G>C (p.Gly900Arg) c.2143G>C (p.Gly715Arg) c.2590G>C (p.Gly864Arg) c.1024G>C (p.Gly342Arg) n.3008G>C n.3024G>C | |
2 | g.227055963C>T | CA350840803 | COL4A4 | c.2698G>A (p.Gly900Ser) c.2143G>A (p.Gly715Ser) c.2590G>A (p.Gly864Ser) c.1024G>A (p.Gly342Ser) n.3008G>A n.3024G>A | |
2 | g.227055964A>C | CA431499361 | COL4A4 | c.2697T>G (p.Pro899=) c.2142T>G (p.Pro714=) c.2589T>G (p.Pro863=) c.1023T>G (p.Pro341=) n.3007T>G n.3023T>G | |
2 | g.227055964A>G | CA431499362 | COL4A4 | c.2697T>C (p.Pro899=) c.2142T>C (p.Pro714=) c.2589T>C (p.Pro863=) c.1023T>C (p.Pro341=) n.3007T>C n.3023T>C | |
2 | g.227055964A>T | CA431499363 | COL4A4 | c.2697T>A (p.Pro899=) c.2142T>A (p.Pro714=) c.2589T>A (p.Pro863=) c.1023T>A (p.Pro341=) n.3007T>A n.3023T>A | gnomAD v4 |
2 | g.227055965G>A | CA350840807 | COL4A4 | c.2696C>T (p.Pro899Leu) c.2141C>T (p.Pro714Leu) c.2588C>T (p.Pro863Leu) c.1022C>T (p.Pro341Leu) n.3006C>T n.3022C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227055965G>C | CA66585030 | COL4A4 | c.2696C>G (p.Pro899Arg) c.2141C>G (p.Pro714Arg) c.2588C>G (p.Pro863Arg) c.1022C>G (p.Pro341Arg) n.3006C>G n.3022C>G | dbSNP |
2 | g.227055965G= | CA1332746324 | COL4A4 | c.2696C= (p.Pro899=) c.2141C= (p.Pro714=) c.2588C= (p.Pro863=) c.1022C= (p.Pro341=) n.3006C= n.3022C= | |
2 | g.227055965G>T | CA350840805 | COL4A4 | c.2696C>A (p.Pro899His) c.2141C>A (p.Pro714His) c.2588C>A (p.Pro863His) c.1022C>A (p.Pro341His) n.3006C>A n.3022C>A | |
2 | g.227055966G>A | CA66585031 | COL4A4 | c.2695C>T (p.Pro899Ser) c.2140C>T (p.Pro714Ser) c.2587C>T (p.Pro863Ser) c.1021C>T (p.Pro341Ser) n.3005C>T n.3021C>T | dbSNP |
2 | g.227055966G>C | CA350840809 | COL4A4 | c.2695C>G (p.Pro899Ala) c.2140C>G (p.Pro714Ala) c.2587C>G (p.Pro863Ala) c.1021C>G (p.Pro341Ala) n.3005C>G n.3021C>G | |
2 | g.227055966G= | CA1332746325 | COL4A4 | c.2695C= (p.Pro899=) c.2140C= (p.Pro714=) c.2587C= (p.Pro863=) c.1021C= (p.Pro341=) n.3005C= n.3021C= | |
2 | g.227055966G>T | CA350840811 | COL4A4 | c.2695C>A (p.Pro899Thr) c.2140C>A (p.Pro714Thr) c.2587C>A (p.Pro863Thr) c.1021C>A (p.Pro341Thr) n.3005C>A n.3021C>A | |
2 | g.227055967T>A | CA2144743 | COL4A4 | c.2694A>T (p.Leu898=) c.2139A>T (p.Leu713=) c.2586A>T (p.Leu862=) c.1020A>T (p.Leu340=) n.3004A>T n.3020A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227055967T>C | CA431499364 | COL4A4 | c.2694A>G (p.Leu898=) c.2139A>G (p.Leu713=) c.2586A>G (p.Leu862=) c.1020A>G (p.Leu340=) n.3004A>G n.3020A>G | gnomAD v4 |
2 | g.227055967T>G | CA431499365 | COL4A4 | c.2694A>C (p.Leu898=) c.2139A>C (p.Leu713=) c.2586A>C (p.Leu862=) c.1020A>C (p.Leu340=) n.3004A>C n.3020A>C | |
2 | g.227055967T= | CA1332746326 | COL4A4 | c.2694A= (p.Leu898=) c.2139A= (p.Leu713=) c.2586A= (p.Leu862=) c.1020A= (p.Leu340=) n.3004A= n.3020A= | |
2 | g.227055968A>C | CA350840816 | COL4A4 | c.2693T>G (p.Leu898Arg) c.2138T>G (p.Leu713Arg) c.2585T>G (p.Leu862Arg) c.1019T>G (p.Leu340Arg) n.3003T>G n.3019T>G | |
2 | g.227055968A>G | CA350840818 | COL4A4 | c.2693T>C (p.Leu898Pro) c.2138T>C (p.Leu713Pro) c.2585T>C (p.Leu862Pro) c.1019T>C (p.Leu340Pro) n.3003T>C n.3019T>C | |
2 | g.227055968A>T | CA350840820 | COL4A4 | c.2693T>A (p.Leu898Gln) c.2138T>A (p.Leu713Gln) c.2585T>A (p.Leu862Gln) c.1019T>A (p.Leu340Gln) n.3003T>A n.3019T>A | |
2 | g.227055969G>A | CA431499366 | COL4A4 | c.2692C>T (p.Leu898=) c.2137C>T (p.Leu713=) c.2584C>T (p.Leu862=) c.1018C>T (p.Leu340=) n.3002C>T n.3018C>T | dbSNP |
2 | g.227055969G>C | CA350840822 | COL4A4 | c.2692C>G (p.Leu898Val) c.2137C>G (p.Leu713Val) c.2584C>G (p.Leu862Val) c.1018C>G (p.Leu340Val) n.3002C>G n.3018C>G | |
2 | g.227055969G= | CA1332746327 | COL4A4 | c.2692C= (p.Leu898=) c.2137C= (p.Leu713=) c.2584C= (p.Leu862=) c.1018C= (p.Leu340=) n.3002C= n.3018C= | |
2 | g.227055969G>T | CA350840823 | COL4A4 | c.2692C>A (p.Leu898Ile) c.2137C>A (p.Leu713Ile) c.2584C>A (p.Leu862Ile) c.1018C>A (p.Leu340Ile) n.3002C>A n.3018C>A | COSMIC |
2 | g.227055970C>A | CA431499367 | COL4A4 | c.2691G>T (p.Gly897=) c.2136G>T (p.Gly712=) c.2583G>T (p.Gly861=) c.1017G>T (p.Gly339=) n.3001G>T n.3017G>T | |
2 | g.227055970C>G | CA431499368 | COL4A4 | c.2691G>C (p.Gly897=) c.2136G>C (p.Gly712=) c.2583G>C (p.Gly861=) c.1017G>C (p.Gly339=) n.3001G>C n.3017G>C | |
2 | g.227055970C>T | CA431499369 | COL4A4 | c.2691G>A (p.Gly897=) c.2136G>A (p.Gly712=) c.2583G>A (p.Gly861=) c.1017G>A (p.Gly339=) n.3001G>A n.3017G>A | ClinVar |
2 | g.227055971C>A | CA350840825 | COL4A4 | c.2690G>T (p.Gly897Val) c.2135G>T (p.Gly712Val) c.2582G>T (p.Gly861Val) c.1016G>T (p.Gly339Val) n.3000G>T n.3016G>T | |
2 | g.227055971C= | CA1332746328 | COL4A4 | c.2690G= (p.Gly897=) c.2135G= (p.Gly712=) c.2582G= (p.Gly861=) c.1016G= (p.Gly339=) n.3000G= n.3016G= | |
2 | g.227055971C>G | CA350840827 | COL4A4 | c.2690G>C (p.Gly897Ala) c.2135G>C (p.Gly712Ala) c.2582G>C (p.Gly861Ala) c.1016G>C (p.Gly339Ala) n.3000G>C n.3016G>C | |
2 | g.227055971C>T | CA127186 | COL4A4 | c.2690G>A (p.Gly897Glu) c.2135G>A (p.Gly712Glu) c.2582G>A (p.Gly861Glu) c.1016G>A (p.Gly339Glu) n.3000G>A n.3016G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227055972C>A | CA350840832 | COL4A4 | c.2689G>T (p.Gly897Trp) c.2134G>T (p.Gly712Trp) c.2581G>T (p.Gly861Trp) c.1015G>T (p.Gly339Trp) n.2999G>T n.3015G>T | |
2 | g.227055972C>G | CA350840830 | COL4A4 | c.2689G>C (p.Gly897Arg) c.2134G>C (p.Gly712Arg) c.2581G>C (p.Gly861Arg) c.1015G>C (p.Gly339Arg) n.2999G>C n.3015G>C | |
2 | g.227055972C>T | CA350840829 | COL4A4 | c.2689G>A (p.Gly897Arg) c.2134G>A (p.Gly712Arg) c.2581G>A (p.Gly861Arg) c.1015G>A (p.Gly339Arg) n.2999G>A n.3015G>A | |
2 | g.227055973A>C | CA350840833 | COL4A4 | c.2688T>G (p.Asp896Glu) c.2133T>G (p.Asp711Glu) c.2580T>G (p.Asp860Glu) c.1014T>G (p.Asp338Glu) n.2998T>G n.3014T>G | |
2 | g.227055973A>G | CA431499370 | COL4A4 | c.2688T>C (p.Asp896=) c.2133T>C (p.Asp711=) c.2580T>C (p.Asp860=) c.1014T>C (p.Asp338=) n.2998T>C n.3014T>C | |
2 | g.227055973A>T | CA350840834 | COL4A4 | c.2688T>A (p.Asp896Glu) c.2133T>A (p.Asp711Glu) c.2580T>A (p.Asp860Glu) c.1014T>A (p.Asp338Glu) n.2998T>A n.3014T>A | |
2 | g.227055974_227055984del | CA2586971463 | COL4A4 | c.2678_2688del (p.Phe893TrpfsTer?) c.2123_2133del (p.Phe708TrpfsTer?) c.2570_2580del (p.Phe857TrpfsTer?) c.1004_1014del (p.Phe335TrpfsTer?) n.2988_2998del n.3004_3014del | |
2 | g.227055974T>A | CA350840836 | COL4A4 | c.2687A>T (p.Asp896Val) c.2132A>T (p.Asp711Val) c.2579A>T (p.Asp860Val) c.1013A>T (p.Asp338Val) n.2997A>T n.3013A>T | |
2 | g.227055974T>C | CA350840838 | COL4A4 | c.2687A>G (p.Asp896Gly) c.2132A>G (p.Asp711Gly) c.2579A>G (p.Asp860Gly) c.1013A>G (p.Asp338Gly) n.2997A>G n.3013A>G | |
2 | g.227055974T>G | CA350840840 | COL4A4 | c.2687A>C (p.Asp896Ala) c.2132A>C (p.Asp711Ala) c.2579A>C (p.Asp860Ala) c.1013A>C (p.Asp338Ala) n.2997A>C n.3013A>C | |
2 | g.227055975C>A | CA350840842 | COL4A4 | c.2686G>T (p.Asp896Tyr) c.2131G>T (p.Asp711Tyr) c.2578G>T (p.Asp860Tyr) c.1012G>T (p.Asp338Tyr) n.2996G>T n.3012G>T | |
2 | g.227055975C>G | CA350840844 | COL4A4 | c.2686G>C (p.Asp896His) c.2131G>C (p.Asp711His) c.2578G>C (p.Asp860His) c.1012G>C (p.Asp338His) n.2996G>C n.3012G>C | |
2 | g.227055975C>T | CA350840845 | COL4A4 | c.2686G>A (p.Asp896Asn) c.2131G>A (p.Asp711Asn) c.2578G>A (p.Asp860Asn) c.1012G>A (p.Asp338Asn) n.2996G>A n.3012G>A | gnomAD v4 |
2 | g.227055976A>C | CA350840847 | COL4A4 | c.2685T>G (p.Asp895Glu) c.2130T>G (p.Asp710Glu) c.2577T>G (p.Asp859Glu) c.1011T>G (p.Asp337Glu) n.2995T>G n.3011T>G | |
2 | g.227055976A>G | CA431499371 | COL4A4 | c.2685T>C (p.Asp895=) c.2130T>C (p.Asp710=) c.2577T>C (p.Asp859=) c.1011T>C (p.Asp337=) n.2995T>C n.3011T>C | ClinVar |
2 | g.227055976A>T | CA350840849 | COL4A4 | c.2685T>A (p.Asp895Glu) c.2130T>A (p.Asp710Glu) c.2577T>A (p.Asp859Glu) c.1011T>A (p.Asp337Glu) n.2995T>A n.3011T>A | gnomAD v4 COSMIC |
2 | g.227055977T>A | CA350840851 | COL4A4 | c.2684A>T (p.Asp895Val) c.2129A>T (p.Asp710Val) c.2576A>T (p.Asp859Val) c.1010A>T (p.Asp337Val) n.2994A>T n.3010A>T | |
2 | g.227055977T>C | CA350840853 | COL4A4 | c.2684A>G (p.Asp895Gly) c.2129A>G (p.Asp710Gly) c.2576A>G (p.Asp859Gly) c.1010A>G (p.Asp337Gly) n.2994A>G n.3010A>G | |
2 | g.227055977T>G | CA350840854 | COL4A4 | c.2684A>C (p.Asp895Ala) c.2129A>C (p.Asp710Ala) c.2576A>C (p.Asp859Ala) c.1010A>C (p.Asp337Ala) n.2994A>C n.3010A>C | |
2 | g.227055978C>A | CA350840858 | COL4A4 | c.2683G>T (p.Asp895Tyr) c.2128G>T (p.Asp710Tyr) c.2575G>T (p.Asp859Tyr) c.1009G>T (p.Asp337Tyr) n.2993G>T n.3009G>T | |
2 | g.227055978C>G | CA350840860 | COL4A4 | c.2683G>C (p.Asp895His) c.2128G>C (p.Asp710His) c.2575G>C (p.Asp859His) c.1009G>C (p.Asp337His) n.2993G>C n.3009G>C | |
2 | g.227055978C>T | CA350840856 | COL4A4 | c.2683G>A (p.Asp895Asn) c.2128G>A (p.Asp710Asn) c.2575G>A (p.Asp859Asn) c.1009G>A (p.Asp337Asn) n.2993G>A n.3009G>A | |
2 | g.227055979T>A | CA431499372 | COL4A4 | c.2682A>T (p.Gly894=) c.2127A>T (p.Gly709=) c.2574A>T (p.Gly858=) c.1008A>T (p.Gly336=) n.2992A>T n.3008A>T | |
2 | g.227055979T>C | CA431499373 | COL4A4 | c.2682A>G (p.Gly894=) c.2127A>G (p.Gly709=) c.2574A>G (p.Gly858=) c.1008A>G (p.Gly336=) n.2992A>G n.3008A>G | |
2 | g.227055979T>G | CA431499374 | COL4A4 | c.2682A>C (p.Gly894=) c.2127A>C (p.Gly709=) c.2574A>C (p.Gly858=) c.1008A>C (p.Gly336=) n.2992A>C n.3008A>C | ClinVar dbSNP gnomAD v4 |
2 | g.227055979T= | CA1332746329 | COL4A4 | c.2682A= (p.Gly894=) c.2127A= (p.Gly709=) c.2574A= (p.Gly858=) c.1008A= (p.Gly336=) n.2992A= n.3008A= | |
2 | g.227055980C>A | CA350840861 | COL4A4 | c.2681G>T (p.Gly894Val) c.2126G>T (p.Gly709Val) c.2573G>T (p.Gly858Val) c.1007G>T (p.Gly336Val) n.2991G>T n.3007G>T | |
2 | g.227055980C>G | CA350840862 | COL4A4 | c.2681G>C (p.Gly894Ala) c.2126G>C (p.Gly709Ala) c.2573G>C (p.Gly858Ala) c.1007G>C (p.Gly336Ala) n.2991G>C n.3007G>C | |
2 | g.227055980C>T | CA350840864 | COL4A4 | c.2681G>A (p.Gly894Glu) c.2126G>A (p.Gly709Glu) c.2573G>A (p.Gly858Glu) c.1007G>A (p.Gly336Glu) n.2991G>A n.3007G>A | COSMIC |
2 | g.227055981C>A | CA350840866 | COL4A4 | c.2680G>T (p.Gly894Ter) c.2125G>T (p.Gly709Ter) c.2572G>T (p.Gly858Ter) c.1006G>T (p.Gly336Ter) n.2990G>T n.3006G>T | |
2 | g.227055981C>G | CA350840868 | COL4A4 | c.2680G>C (p.Gly894Arg) c.2125G>C (p.Gly709Arg) c.2572G>C (p.Gly858Arg) c.1006G>C (p.Gly336Arg) n.2990G>C n.3006G>C | |
2 | g.227055981C>T | CA350840870 | COL4A4 | c.2680G>A (p.Gly894Arg) c.2125G>A (p.Gly709Arg) c.2572G>A (p.Gly858Arg) c.1006G>A (p.Gly336Arg) n.2990G>A n.3006G>A | |
2 | g.227055981_227055989delinsA | CA2580065879 | COL4A4 | c.2672_2680delinsT (p.Gly891ValfsTer3) c.2117_2125delinsT (p.Gly706ValfsTer3) c.2564_2572delinsT (p.Gly855ValfsTer3) c.998_1006delinsT (p.Gly333ValfsTer3) n.2982_2990delinsT n.2998_3006delinsT | ClinVar |
2 | g.227055982A>C | CA350840873 | COL4A4 | c.2679T>G (p.Phe893Leu) c.2124T>G (p.Phe708Leu) c.2571T>G (p.Phe857Leu) c.1005T>G (p.Phe335Leu) n.2989T>G n.3005T>G | |
2 | g.227055982A>G | CA431499375 | COL4A4 | c.2679T>C (p.Phe893=) c.2124T>C (p.Phe708=) c.2571T>C (p.Phe857=) c.1005T>C (p.Phe335=) n.2989T>C n.3005T>C | |
2 | g.227055982A>T | CA350840871 | COL4A4 | c.2679T>A (p.Phe893Leu) c.2124T>A (p.Phe708Leu) c.2571T>A (p.Phe857Leu) c.1005T>A (p.Phe335Leu) n.2989T>A n.3005T>A | |
2 | g.227055983A>C | CA350840875 | COL4A4 | c.2678T>G (p.Phe893Cys) c.2123T>G (p.Phe708Cys) c.2570T>G (p.Phe857Cys) c.1004T>G (p.Phe335Cys) n.2988T>G n.3004T>G | |
2 | g.227055983A>G | CA350840876 | COL4A4 | c.2678T>C (p.Phe893Ser) c.2123T>C (p.Phe708Ser) c.2570T>C (p.Phe857Ser) c.1004T>C (p.Phe335Ser) n.2988T>C n.3004T>C | |
2 | g.227055983A>T | CA350840878 | COL4A4 | c.2678T>A (p.Phe893Tyr) c.2123T>A (p.Phe708Tyr) c.2570T>A (p.Phe857Tyr) c.1004T>A (p.Phe335Tyr) n.2988T>A n.3004T>A | |
2 | g.227055984A>C | CA350840879 | COL4A4 | c.2677T>G (p.Phe893Val) c.2122T>G (p.Phe708Val) c.2569T>G (p.Phe857Val) c.1003T>G (p.Phe335Val) n.2987T>G n.3003T>G | |
2 | g.227055984A>G | CA350840881 | COL4A4 | c.2677T>C (p.Phe893Leu) c.2122T>C (p.Phe708Leu) c.2569T>C (p.Phe857Leu) c.1003T>C (p.Phe335Leu) n.2987T>C n.3003T>C | |
2 | g.227055984A>T | CA350840882 | COL4A4 | c.2677T>A (p.Phe893Ile) c.2122T>A (p.Phe708Ile) c.2569T>A (p.Phe857Ile) c.1003T>A (p.Phe335Ile) n.2987T>A n.3003T>A | |
2 | g.227055985G>A | CA431499376 | COL4A4 | c.2676C>T (p.Pro892=) c.2121C>T (p.Pro707=) c.2568C>T (p.Pro856=) c.1002C>T (p.Pro334=) n.2986C>T n.3002C>T | |
2 | g.227055985G>C | CA431499378 | COL4A4 | c.2676C>G (p.Pro892=) c.2121C>G (p.Pro707=) c.2568C>G (p.Pro856=) c.1002C>G (p.Pro334=) n.2986C>G n.3002C>G | |
2 | g.227055985G>T | CA431499377 | COL4A4 | c.2676C>A (p.Pro892=) c.2121C>A (p.Pro707=) c.2568C>A (p.Pro856=) c.1002C>A (p.Pro334=) n.2986C>A n.3002C>A | |
2 | g.227055986G>A | CA350840885 | COL4A4 | c.2675C>T (p.Pro892Leu) c.2120C>T (p.Pro707Leu) c.2567C>T (p.Pro856Leu) c.1001C>T (p.Pro334Leu) n.2985C>T n.3001C>T | COSMIC |
2 | g.227055986G>C | CA350840884 | COL4A4 | c.2675C>G (p.Pro892Arg) c.2120C>G (p.Pro707Arg) c.2567C>G (p.Pro856Arg) c.1001C>G (p.Pro334Arg) n.2985C>G n.3001C>G | |
2 | g.227055986G= | CA1332746330 | COL4A4 | c.2675C= (p.Pro892=) c.2120C= (p.Pro707=) c.2567C= (p.Pro856=) c.1001C= (p.Pro334=) n.2985C= n.3001C= | |
2 | g.227055986G>T | CA2144744 | COL4A4 | c.2675C>A (p.Pro892His) c.2120C>A (p.Pro707His) c.2567C>A (p.Pro856His) c.1001C>A (p.Pro334His) n.2985C>A n.3001C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227055987G>A | CA350840886 | COL4A4 | c.2674C>T (p.Pro892Ser) c.2119C>T (p.Pro707Ser) c.2566C>T (p.Pro856Ser) c.1000C>T (p.Pro334Ser) n.2984C>T n.3000C>T | COSMIC |
2 | g.227055987G>C | CA350840888 | COL4A4 | c.2674C>G (p.Pro892Ala) c.2119C>G (p.Pro707Ala) c.2566C>G (p.Pro856Ala) c.1000C>G (p.Pro334Ala) n.2984C>G n.3000C>G | |
2 | g.227055987G>T | CA350840889 | COL4A4 | c.2674C>A (p.Pro892Thr) c.2119C>A (p.Pro707Thr) c.2566C>A (p.Pro856Thr) c.1000C>A (p.Pro334Thr) n.2984C>A n.3000C>A | |
2 | g.227055988A>C | CA431499379 | COL4A4 | c.2673T>G (p.Gly891=) c.2118T>G (p.Gly706=) c.2565T>G (p.Gly855=) c.999T>G (p.Gly333=) n.2983T>G n.2999T>G | |
2 | g.227055988A>G | CA431499380 | COL4A4 | c.2673T>C (p.Gly891=) c.2118T>C (p.Gly706=) c.2565T>C (p.Gly855=) c.999T>C (p.Gly333=) n.2983T>C n.2999T>C | |
2 | g.227055988A>T | CA431499381 | COL4A4 | c.2673T>A (p.Gly891=) c.2118T>A (p.Gly706=) c.2565T>A (p.Gly855=) c.999T>A (p.Gly333=) n.2983T>A n.2999T>A | |
2 | g.227055988_227055989insGATGATG | CA2580065881 | COL4A4 | c.2672_2673insCATCATC (p.Pro892IlefsTer7) c.2117_2118insCATCATC (p.Pro707IlefsTer7) c.2564_2565insCATCATC (p.Pro856IlefsTer7) c.998_999insCATCATC (p.Pro334IlefsTer7) n.2982_2983insCATCATC n.2998_2999insCATCATC | ClinVar |
2 | g.227055989C>A | CA350840891 | COL4A4 | c.2672G>T (p.Gly891Val) c.2117G>T (p.Gly706Val) c.2564G>T (p.Gly855Val) c.998G>T (p.Gly333Val) n.2982G>T n.2998G>T | |
2 | g.227055989C>G | CA350840893 | COL4A4 | c.2672G>C (p.Gly891Ala) c.2117G>C (p.Gly706Ala) c.2564G>C (p.Gly855Ala) c.998G>C (p.Gly333Ala) n.2982G>C n.2998G>C | |
2 | g.227055989C>T | CA350840894 | COL4A4 | c.2672G>A (p.Gly891Asp) c.2117G>A (p.Gly706Asp) c.2564G>A (p.Gly855Asp) c.998G>A (p.Gly333Asp) n.2982G>A n.2998G>A | |
2 | g.227055990C>A | CA350840896 | COL4A4 | c.2671G>T (p.Gly891Cys) c.2116G>T (p.Gly706Cys) c.2563G>T (p.Gly855Cys) c.997G>T (p.Gly333Cys) n.2981G>T n.2997G>T | |
2 | g.227055990C>G | CA350840898 | COL4A4 | c.2671G>C (p.Gly891Arg) c.2116G>C (p.Gly706Arg) c.2563G>C (p.Gly855Arg) c.997G>C (p.Gly333Arg) n.2981G>C n.2997G>C | |
2 | g.227055990C>T | CA350840900 | COL4A4 | c.2671G>A (p.Gly891Ser) c.2116G>A (p.Gly706Ser) c.2563G>A (p.Gly855Ser) c.997G>A (p.Gly333Ser) n.2981G>A n.2997G>A | |
2 | g.227055991T>A | CA431499382 | COL4A4 | c.2670A>T (p.Pro890=) c.2115A>T (p.Pro705=) c.2562A>T (p.Pro854=) c.996A>T (p.Pro332=) n.2980A>T n.2996A>T | |
2 | g.227055991T>C | CA431499383 | COL4A4 | c.2670A>G (p.Pro890=) c.2115A>G (p.Pro705=) c.2562A>G (p.Pro854=) c.996A>G (p.Pro332=) n.2980A>G n.2996A>G | |
2 | g.227055991T>G | CA431499384 | COL4A4 | c.2670A>C (p.Pro890=) c.2115A>C (p.Pro705=) c.2562A>C (p.Pro854=) c.996A>C (p.Pro332=) n.2980A>C n.2996A>C | |
2 | g.227055992G>A | CA350840901 | COL4A4 | c.2669C>T (p.Pro890Leu) c.2114C>T (p.Pro705Leu) c.2561C>T (p.Pro854Leu) c.995C>T (p.Pro332Leu) n.2979C>T n.2995C>T | |
2 | g.227055992G>C | CA350840902 | COL4A4 | c.2669C>G (p.Pro890Arg) c.2114C>G (p.Pro705Arg) c.2561C>G (p.Pro854Arg) c.995C>G (p.Pro332Arg) n.2979C>G n.2995C>G | |
2 | g.227055992G>T | CA350840904 | COL4A4 | c.2669C>A (p.Pro890Gln) c.2114C>A (p.Pro705Gln) c.2561C>A (p.Pro854Gln) c.995C>A (p.Pro332Gln) n.2979C>A n.2995C>A | |
2 | g.227055993G>A | CA2144745 | COL4A4 | c.2668C>T (p.Pro890Ser) c.2113C>T (p.Pro705Ser) c.2560C>T (p.Pro854Ser) c.994C>T (p.Pro332Ser) n.2978C>T n.2994C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227055993G>C | CA2144746 | COL4A4 | c.2668C>G (p.Pro890Ala) c.2113C>G (p.Pro705Ala) c.2560C>G (p.Pro854Ala) c.994C>G (p.Pro332Ala) n.2978C>G n.2994C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227055993G= | CA1332746331 | COL4A4 | c.2668C= (p.Pro890=) c.2113C= (p.Pro705=) c.2560C= (p.Pro854=) c.994C= (p.Pro332=) n.2978C= n.2994C= | |
2 | g.227055993G>T | CA350840907 | COL4A4 | c.2668C>A (p.Pro890Thr) c.2113C>A (p.Pro705Thr) c.2560C>A (p.Pro854Thr) c.994C>A (p.Pro332Thr) n.2978C>A n.2994C>A | |
2 | g.227055994G>A | CA431499386 | COL4A4 | c.2667C>T (p.Ile889=) c.2112C>T (p.Ile704=) c.2559C>T (p.Ile853=) c.993C>T (p.Ile331=) n.2977C>T n.2993C>T | |
2 | g.227055994G>C | CA350840908 | COL4A4 | c.2667C>G (p.Ile889Met) c.2112C>G (p.Ile704Met) c.2559C>G (p.Ile853Met) c.993C>G (p.Ile331Met) n.2977C>G n.2993C>G | |
2 | g.227055994G>T | CA431499385 | COL4A4 | c.2667C>A (p.Ile889=) c.2112C>A (p.Ile704=) c.2559C>A (p.Ile853=) c.993C>A (p.Ile331=) n.2977C>A n.2993C>A | |
2 | g.227055995A>C | CA350840909 | COL4A4 | c.2666T>G (p.Ile889Ser) c.2111T>G (p.Ile704Ser) c.2558T>G (p.Ile853Ser) c.992T>G (p.Ile331Ser) n.2976T>G n.2992T>G | |
2 | g.227055995A>G | CA350840910 | COL4A4 | c.2666T>C (p.Ile889Thr) c.2111T>C (p.Ile704Thr) c.2558T>C (p.Ile853Thr) c.992T>C (p.Ile331Thr) n.2976T>C n.2992T>C | |
2 | g.227055995A>T | CA350840911 | COL4A4 | c.2666T>A (p.Ile889Asn) c.2111T>A (p.Ile704Asn) c.2558T>A (p.Ile853Asn) c.992T>A (p.Ile331Asn) n.2976T>A n.2992T>A | |
2 | g.227055996T>A | CA350840912 | COL4A4 | c.2665A>T (p.Ile889Phe) c.2110A>T (p.Ile704Phe) c.2557A>T (p.Ile853Phe) c.991A>T (p.Ile331Phe) n.2975A>T n.2991A>T | |
2 | g.227055996T>C | CA350840913 | COL4A4 | c.2665A>G (p.Ile889Val) c.2110A>G (p.Ile704Val) c.2557A>G (p.Ile853Val) c.991A>G (p.Ile331Val) n.2975A>G n.2991A>G | |
2 | g.227055996T>G | CA350840914 | COL4A4 | c.2665A>C (p.Ile889Leu) c.2110A>C (p.Ile704Leu) c.2557A>C (p.Ile853Leu) c.991A>C (p.Ile331Leu) n.2975A>C n.2991A>C | |
2 | g.227055997dup | CA645520943 | COL4A4 | c.2665dup (p.Ile889AsnfsTer8) c.2110dup (p.Ile704AsnfsTer8) c.2557dup (p.Ile853AsnfsTer8) c.991dup (p.Ile331AsnfsTer8) n.2975dup n.2991dup | COSMIC |
2 | g.227055997T>A | CA431499387 | COL4A4 | c.2664A>T (p.Gly888=) c.2109A>T (p.Gly703=) c.2556A>T (p.Gly852=) c.990A>T (p.Gly330=) n.2974A>T n.2990A>T | |
2 | g.227055997T>C | CA431499388 | COL4A4 | c.2664A>G (p.Gly888=) c.2109A>G (p.Gly703=) c.2556A>G (p.Gly852=) c.990A>G (p.Gly330=) n.2974A>G n.2990A>G | dbSNP gnomAD v4 |
2 | g.227055997T>G | CA431499389 | COL4A4 | c.2664A>C (p.Gly888=) c.2109A>C (p.Gly703=) c.2556A>C (p.Gly852=) c.990A>C (p.Gly330=) n.2974A>C n.2990A>C | |
2 | g.227055997T= | CA1332746332 | COL4A4 | c.2664A= (p.Gly888=) c.2109A= (p.Gly703=) c.2556A= (p.Gly852=) c.990A= (p.Gly330=) n.2974A= n.2990A= | |
2 | g.227056006_227056041dup | CA2739278761 | COL4A4 | c.2629_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly) c.2074_2109dup (p.Gly703_Ile704insArgProGlyAlaHisGlyProProGlyLeuProGly) c.2521_2556dup (p.Gly852_Ile853insArgProGlyAlaHisGlyProProGlyLeuProGly) c.955_990dup (p.Gly330_Ile331insArgProGlyAlaHisGlyProProGlyLeuProGly) n.2939_2974dup n.2955_2990dup | ClinVar |
2 | g.227056006_227056041del | CA915940414 | COL4A4 | c.2629_2664del (p.Arg877_Gly888del) c.2074_2109del (p.Arg692_Gly703del) c.2521_2556del (p.Arg841_Gly852del) c.955_990del (p.Arg319_Gly330del) n.2939_2974del n.2955_2990del | ClinVar dbSNP |
2 | g.227055998C>A | CA350840915 | COL4A4 | c.2663G>T (p.Gly888Val) c.2108G>T (p.Gly703Val) c.2555G>T (p.Gly852Val) c.989G>T (p.Gly330Val) n.2973G>T n.2989G>T | dbSNP |
2 | g.227055998C= | CA1332746333 | COL4A4 | c.2663G= (p.Gly888=) c.2108G= (p.Gly703=) c.2555G= (p.Gly852=) c.989G= (p.Gly330=) n.2973G= n.2989G= | |
2 | g.227055998C>G | CA350840916 | COL4A4 | c.2663G>C (p.Gly888Ala) c.2108G>C (p.Gly703Ala) c.2555G>C (p.Gly852Ala) c.989G>C (p.Gly330Ala) n.2973G>C n.2989G>C | |
2 | g.227055998C>T | CA350840917 | COL4A4 | c.2663G>A (p.Gly888Glu) c.2108G>A (p.Gly703Glu) c.2555G>A (p.Gly852Glu) c.989G>A (p.Gly330Glu) n.2973G>A n.2989G>A | |
2 | g.227056004_227056012del | CA2663408045 | COL4A4 | c.2655_2663del (p.Leu886_Gly888del) c.2100_2108del (p.Leu701_Gly703del) c.2547_2555del (p.Leu850_Gly852del) c.981_989del (p.Leu328_Gly330del) n.2965_2973del n.2981_2989del | gnomAD v4 |
2 | g.227055999C>A | CA350840918 | COL4A4 | c.2662G>T (p.Gly888Ter) c.2107G>T (p.Gly703Ter) c.2554G>T (p.Gly852Ter) c.988G>T (p.Gly330Ter) n.2972G>T n.2988G>T | |
2 | g.227055999C= | CA1332746334 | COL4A4 | c.2662G= (p.Gly888=) c.2107G= (p.Gly703=) c.2554G= (p.Gly852=) c.988G= (p.Gly330=) n.2972G= n.2988G= | |
2 | g.227055999C>G | CA350840919 | COL4A4 | c.2662G>C (p.Gly888Arg) c.2107G>C (p.Gly703Arg) c.2554G>C (p.Gly852Arg) c.988G>C (p.Gly330Arg) n.2972G>C n.2988G>C | |
2 | g.227055999C>T | CA350840920 | COL4A4 | c.2662G>A (p.Gly888Arg) c.2107G>A (p.Gly703Arg) c.2554G>A (p.Gly852Arg) c.988G>A (p.Gly330Arg) n.2972G>A n.2988G>A | ClinVar dbSNP COSMIC |
2 | g.227056000T>A | CA431499390 | COL4A4 | c.2661A>T (p.Pro887=) c.2106A>T (p.Pro702=) c.2553A>T (p.Pro851=) c.987A>T (p.Pro329=) n.2971A>T n.2987A>T | gnomAD v4 |
2 | g.227056000T>C | CA431499391 | COL4A4 | c.2661A>G (p.Pro887=) c.2106A>G (p.Pro702=) c.2553A>G (p.Pro851=) c.987A>G (p.Pro329=) n.2971A>G n.2987A>G | |
2 | g.227056000T>G | CA431499392 | COL4A4 | c.2661A>C (p.Pro887=) c.2106A>C (p.Pro702=) c.2553A>C (p.Pro851=) c.987A>C (p.Pro329=) n.2971A>C n.2987A>C | |
2 | g.227056001G>A | CA350840921 | COL4A4 | c.2660C>T (p.Pro887Leu) c.2105C>T (p.Pro702Leu) c.2552C>T (p.Pro851Leu) c.986C>T (p.Pro329Leu) n.2970C>T n.2986C>T | dbSNP gnomAD v4 |
2 | g.227056001G>C | CA350840923 | COL4A4 | c.2660C>G (p.Pro887Arg) c.2105C>G (p.Pro702Arg) c.2552C>G (p.Pro851Arg) c.986C>G (p.Pro329Arg) n.2970C>G n.2986C>G | |
2 | g.227056001G= | CA1332746335 | COL4A4 | c.2660C= (p.Pro887=) c.2105C= (p.Pro702=) c.2552C= (p.Pro851=) c.986C= (p.Pro329=) n.2970C= n.2986C= | |
2 | g.227056001G>T | CA350840922 | COL4A4 | c.2660C>A (p.Pro887Gln) c.2105C>A (p.Pro702Gln) c.2552C>A (p.Pro851Gln) c.986C>A (p.Pro329Gln) n.2970C>A n.2986C>A | |
2 | g.227056003_227056029del | CA2740096481 | COL4A4 | c.2634_2660del (p.Gly879_Pro887del) c.2079_2105del (p.Gly694_Pro702del) c.2526_2552del (p.Gly843_Pro851del) c.960_986del (p.Gly321_Pro329del) n.2944_2970del n.2960_2986del | ClinVar |
2 | g.227056002G>A | CA350840924 | COL4A4 | c.2659C>T (p.Pro887Ser) c.2104C>T (p.Pro702Ser) c.2551C>T (p.Pro851Ser) c.985C>T (p.Pro329Ser) n.2969C>T n.2985C>T | |
2 | g.227056002G>C | CA350840925 | COL4A4 | c.2659C>G (p.Pro887Ala) c.2104C>G (p.Pro702Ala) c.2551C>G (p.Pro851Ala) c.985C>G (p.Pro329Ala) n.2969C>G n.2985C>G | |
2 | g.227056002G>T | CA350840926 | COL4A4 | c.2659C>A (p.Pro887Thr) c.2104C>A (p.Pro702Thr) c.2551C>A (p.Pro851Thr) c.985C>A (p.Pro329Thr) n.2969C>A n.2985C>A | |
2 | g.227056003G>A | CA431499393 | COL4A4 | c.2658C>T (p.Leu886=) c.2103C>T (p.Leu701=) c.2550C>T (p.Leu850=) c.984C>T (p.Leu328=) n.2968C>T n.2984C>T | |
2 | g.227056003G>C | CA431499394 | COL4A4 | c.2658C>G (p.Leu886=) c.2103C>G (p.Leu701=) c.2550C>G (p.Leu850=) c.984C>G (p.Leu328=) n.2968C>G n.2984C>G | |
2 | g.227056003G= | CA1332746336 | COL4A4 | c.2658C= (p.Leu886=) c.2103C= (p.Leu701=) c.2550C= (p.Leu850=) c.984C= (p.Leu328=) n.2968C= n.2984C= | |
2 | g.227056003G>T | CA2144747 | COL4A4 | c.2658C>A (p.Leu886=) c.2103C>A (p.Leu701=) c.2550C>A (p.Leu850=) c.984C>A (p.Leu328=) n.2968C>A n.2984C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056004A= | CA1332746337 | COL4A4 | c.2657T= (p.Leu886=) c.2102T= (p.Leu701=) c.2549T= (p.Leu850=) c.983T= (p.Leu328=) n.2967T= n.2983T= | |
2 | g.227056004A>C | CA350840927 | COL4A4 | c.2657T>G (p.Leu886Arg) c.2102T>G (p.Leu701Arg) c.2549T>G (p.Leu850Arg) c.983T>G (p.Leu328Arg) n.2967T>G n.2983T>G | dbSNP |
2 | g.227056004A>G | CA350840928 | COL4A4 | c.2657T>C (p.Leu886Pro) c.2102T>C (p.Leu701Pro) c.2549T>C (p.Leu850Pro) c.983T>C (p.Leu328Pro) n.2967T>C n.2983T>C | |
2 | g.227056004A>T | CA350840929 | COL4A4 | c.2657T>A (p.Leu886His) c.2102T>A (p.Leu701His) c.2549T>A (p.Leu850His) c.983T>A (p.Leu328His) n.2967T>A n.2983T>A | |
2 | g.227056005G>A | CA66585076 | COL4A4 | c.2656C>T (p.Leu886Phe) c.2101C>T (p.Leu701Phe) c.2548C>T (p.Leu850Phe) c.982C>T (p.Leu328Phe) n.2966C>T n.2982C>T | dbSNP gnomAD v4 |
2 | g.227056005G>C | CA350840930 | COL4A4 | c.2656C>G (p.Leu886Val) c.2101C>G (p.Leu701Val) c.2548C>G (p.Leu850Val) c.982C>G (p.Leu328Val) n.2966C>G n.2982C>G | |
2 | g.227056005G= | CA1332746338 | COL4A4 | c.2656C= (p.Leu886=) c.2101C= (p.Leu701=) c.2548C= (p.Leu850=) c.982C= (p.Leu328=) n.2966C= n.2982C= | |
2 | g.227056005G>T | CA350840931 | COL4A4 | c.2656C>A (p.Leu886Ile) c.2101C>A (p.Leu701Ile) c.2548C>A (p.Leu850Ile) c.982C>A (p.Leu328Ile) n.2966C>A n.2982C>A | |
2 | g.227056006dup | CA765669586 | COL4A4 | c.2656dup (p.Leu886ProfsTer11) c.2101dup (p.Leu701ProfsTer11) c.2548dup (p.Leu850ProfsTer11) c.982dup (p.Leu328ProfsTer11) n.2966dup n.2982dup | ClinVar dbSNP |
2 | g.227056006G>A | CA431499395 | COL4A4 | c.2655C>T (p.Gly885=) c.2100C>T (p.Gly700=) c.2547C>T (p.Gly849=) c.981C>T (p.Gly327=) n.2965C>T n.2981C>T | |
2 | g.227056006G>C | CA431499396 | COL4A4 | c.2655C>G (p.Gly885=) c.2100C>G (p.Gly700=) c.2547C>G (p.Gly849=) c.981C>G (p.Gly327=) n.2965C>G n.2981C>G | |
2 | g.227056006G= | CA1332746339 | COL4A4 | c.2655C= (p.Gly885=) c.2100C= (p.Gly700=) c.2547C= (p.Gly849=) c.981C= (p.Gly327=) n.2965C= n.2981C= | |
2 | g.227056006G>T | CA2144748 | COL4A4 | c.2655C>A (p.Gly885=) c.2100C>A (p.Gly700=) c.2547C>A (p.Gly849=) c.981C>A (p.Gly327=) n.2965C>A n.2981C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056007C>A | CA350840933 | COL4A4 | c.2654G>T (p.Gly885Val) c.2099G>T (p.Gly700Val) c.2546G>T (p.Gly849Val) c.980G>T (p.Gly327Val) n.2964G>T n.2980G>T | |
2 | g.227056007C= | CA1332746340 | COL4A4 | c.2654G= (p.Gly885=) c.2099G= (p.Gly700=) c.2546G= (p.Gly849=) c.980G= (p.Gly327=) n.2964G= n.2980G= | |
2 | g.227056007C>G | CA350840934 | COL4A4 | c.2654G>C (p.Gly885Ala) c.2099G>C (p.Gly700Ala) c.2546G>C (p.Gly849Ala) c.980G>C (p.Gly327Ala) n.2964G>C n.2980G>C | |
2 | g.227056007C>T | CA350840932 | COL4A4 | c.2654G>A (p.Gly885Asp) c.2099G>A (p.Gly700Asp) c.2546G>A (p.Gly849Asp) c.980G>A (p.Gly327Asp) n.2964G>A n.2980G>A | ClinVar dbSNP gnomAD v4 |
2 | g.227056013_227056039dup | CA16617486 | COL4A4 | c.2628_2654dup (p.Gly885_Leu886insArgProGlyAlaHisGlyProProGly) c.2073_2099dup (p.Gly700_Leu701insArgProGlyAlaHisGlyProProGly) c.2520_2546dup (p.Gly849_Leu850insArgProGlyAlaHisGlyProProGly) c.954_980dup (p.Gly327_Leu328insArgProGlyAlaHisGlyProProGly) n.2938_2964dup n.2954_2980dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056008C>A | CA350840936 | COL4A4 | c.2653G>T (p.Gly885Cys) c.2098G>T (p.Gly700Cys) c.2545G>T (p.Gly849Cys) c.979G>T (p.Gly327Cys) n.2963G>T n.2979G>T | |
2 | g.227056008C>G | CA350840935 | COL4A4 | c.2653G>C (p.Gly885Arg) c.2098G>C (p.Gly700Arg) c.2545G>C (p.Gly849Arg) c.979G>C (p.Gly327Arg) n.2963G>C n.2979G>C | |
2 | g.227056008C>T | CA350840937 | COL4A4 | c.2653G>A (p.Gly885Ser) c.2098G>A (p.Gly700Ser) c.2545G>A (p.Gly849Ser) c.979G>A (p.Gly327Ser) n.2963G>A n.2979G>A | |
2 | g.227056009T>A | CA431499399 | COL4A4 | c.2652A>T (p.Pro884=) c.2097A>T (p.Pro699=) c.2544A>T (p.Pro848=) c.978A>T (p.Pro326=) n.2962A>T n.2978A>T | |
2 | g.227056009T>C | CA431499397 | COL4A4 | c.2652A>G (p.Pro884=) c.2097A>G (p.Pro699=) c.2544A>G (p.Pro848=) c.978A>G (p.Pro326=) n.2962A>G n.2978A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056009T>G | CA431499398 | COL4A4 | c.2652A>C (p.Pro884=) c.2097A>C (p.Pro699=) c.2544A>C (p.Pro848=) c.978A>C (p.Pro326=) n.2962A>C n.2978A>C | |
2 | g.227056009T= | CA1332746341 | COL4A4 | c.2652A= (p.Pro884=) c.2097A= (p.Pro699=) c.2544A= (p.Pro848=) c.978A= (p.Pro326=) n.2962A= n.2978A= | |
2 | g.227056010G>A | CA350840938 | COL4A4 | c.2651C>T (p.Pro884Leu) c.2096C>T (p.Pro699Leu) c.2543C>T (p.Pro848Leu) c.977C>T (p.Pro326Leu) n.2961C>T n.2977C>T | ClinVar |
2 | g.227056010G>C | CA350840939 | COL4A4 | c.2651C>G (p.Pro884Arg) c.2096C>G (p.Pro699Arg) c.2543C>G (p.Pro848Arg) c.977C>G (p.Pro326Arg) n.2961C>G n.2977C>G | |
2 | g.227056010G>T | CA350840940 | COL4A4 | c.2651C>A (p.Pro884Gln) c.2096C>A (p.Pro699Gln) c.2543C>A (p.Pro848Gln) c.977C>A (p.Pro326Gln) n.2961C>A n.2977C>A | |
2 | g.227056011G>A | CA350840941 | COL4A4 | c.2650C>T (p.Pro884Ser) c.2095C>T (p.Pro699Ser) c.2542C>T (p.Pro848Ser) c.976C>T (p.Pro326Ser) n.2960C>T n.2976C>T | gnomAD v4 |
2 | g.227056011G>C | CA350840942 | COL4A4 | c.2650C>G (p.Pro884Ala) c.2095C>G (p.Pro699Ala) c.2542C>G (p.Pro848Ala) c.976C>G (p.Pro326Ala) n.2960C>G n.2976C>G | |
2 | g.227056011G>T | CA350840943 | COL4A4 | c.2650C>A (p.Pro884Thr) c.2095C>A (p.Pro699Thr) c.2542C>A (p.Pro848Thr) c.976C>A (p.Pro326Thr) n.2960C>A n.2976C>A | gnomAD v4 |
2 | g.227056012G>A | CA431499400 | COL4A4 | c.2649C>T (p.Pro883=) c.2094C>T (p.Pro698=) c.2541C>T (p.Pro847=) c.975C>T (p.Pro325=) n.2959C>T n.2975C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227056012G>C | CA431499401 | COL4A4 | c.2649C>G (p.Pro883=) c.2094C>G (p.Pro698=) c.2541C>G (p.Pro847=) c.975C>G (p.Pro325=) n.2959C>G n.2975C>G | |
2 | g.227056012G= | CA1332746342 | COL4A4 | c.2649C= (p.Pro883=) c.2094C= (p.Pro698=) c.2541C= (p.Pro847=) c.975C= (p.Pro325=) n.2959C= n.2975C= | |
2 | g.227056012G>T | CA431499402 | COL4A4 | c.2649C>A (p.Pro883=) c.2094C>A (p.Pro698=) c.2541C>A (p.Pro847=) c.975C>A (p.Pro325=) n.2959C>A n.2975C>A | gnomAD v4 |
2 | g.227056013G>A | CA66585083 | COL4A4 | c.2648C>T (p.Pro883Leu) c.2093C>T (p.Pro698Leu) c.2540C>T (p.Pro847Leu) c.974C>T (p.Pro325Leu) n.2958C>T n.2974C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056013G>C | CA350840944 | COL4A4 | c.2648C>G (p.Pro883Arg) c.2093C>G (p.Pro698Arg) c.2540C>G (p.Pro847Arg) c.974C>G (p.Pro325Arg) n.2958C>G n.2974C>G | |
2 | g.227056013G= | CA1332746343 | COL4A4 | c.2648C= (p.Pro883=) c.2093C= (p.Pro698=) c.2540C= (p.Pro847=) c.974C= (p.Pro325=) n.2958C= n.2974C= | |
2 | g.227056013G>T | CA350840945 | COL4A4 | c.2648C>A (p.Pro883His) c.2093C>A (p.Pro698His) c.2540C>A (p.Pro847His) c.974C>A (p.Pro325His) n.2958C>A n.2974C>A | |
2 | g.227056013_227056014insA | CA2663408046 | COL4A4 | c.2647_2648insT (p.Pro883LeufsTer14) c.2092_2093insT (p.Pro698LeufsTer14) c.2539_2540insT (p.Pro847LeufsTer14) c.973_974insT (p.Pro325LeufsTer14) n.2957_2958insT n.2973_2974insT | gnomAD v4 |
2 | g.227056014G>A | CA2144751 | COL4A4 | c.2647C>T (p.Pro883Ser) c.2092C>T (p.Pro698Ser) c.2539C>T (p.Pro847Ser) c.973C>T (p.Pro325Ser) n.2957C>T n.2973C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056014G>C | CA350840946 | COL4A4 | c.2647C>G (p.Pro883Ala) c.2092C>G (p.Pro698Ala) c.2539C>G (p.Pro847Ala) c.973C>G (p.Pro325Ala) n.2957C>G n.2973C>G | ClinVar |
2 | g.227056014G= | CA1332746344 | COL4A4 | c.2647C= (p.Pro883=) c.2092C= (p.Pro698=) c.2539C= (p.Pro847=) c.973C= (p.Pro325=) n.2957C= n.2973C= | |
2 | g.227056014G>T | CA2144750 | COL4A4 | c.2647C>A (p.Pro883Thr) c.2092C>A (p.Pro698Thr) c.2539C>A (p.Pro847Thr) c.973C>A (p.Pro325Thr) n.2957C>A n.2973C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056015_227056041dup | CA2144749 | COL4A4 | c.2621_2647dup (p.Gly882_Pro883insLeuProGlyArgProGlyAlaHisGly) c.2066_2092dup (p.Gly697_Pro698insLeuProGlyArgProGlyAlaHisGly) c.2513_2539dup (p.Gly846_Pro847insLeuProGlyArgProGlyAlaHisGly) c.947_973dup (p.Gly324_Pro325insLeuProGlyArgProGlyAlaHisGly) n.2931_2957dup n.2947_2973dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056015A>C | CA431499403 | COL4A4 | c.2646T>G (p.Gly882=) c.2091T>G (p.Gly697=) c.2538T>G (p.Gly846=) c.972T>G (p.Gly324=) n.2956T>G n.2972T>G | gnomAD v4 |
2 | g.227056015A>G | CA431499404 | COL4A4 | c.2646T>C (p.Gly882=) c.2091T>C (p.Gly697=) c.2538T>C (p.Gly846=) c.972T>C (p.Gly324=) n.2956T>C n.2972T>C | gnomAD v4 |
2 | g.227056015A>T | CA431499405 | COL4A4 | c.2646T>A (p.Gly882=) c.2091T>A (p.Gly697=) c.2538T>A (p.Gly846=) c.972T>A (p.Gly324=) n.2956T>A n.2972T>A | |
2 | g.227056016C>A | CA350840947 | COL4A4 | c.2645G>T (p.Gly882Val) c.2090G>T (p.Gly697Val) c.2537G>T (p.Gly846Val) c.971G>T (p.Gly324Val) n.2955G>T n.2971G>T | |
2 | g.227056016C>G | CA350840949 | COL4A4 | c.2645G>C (p.Gly882Ala) c.2090G>C (p.Gly697Ala) c.2537G>C (p.Gly846Ala) c.971G>C (p.Gly324Ala) n.2955G>C n.2971G>C | |
2 | g.227056016C>T | CA350840948 | COL4A4 | c.2645G>A (p.Gly882Asp) c.2090G>A (p.Gly697Asp) c.2537G>A (p.Gly846Asp) c.971G>A (p.Gly324Asp) n.2955G>A n.2971G>A | COSMIC |
2 | g.227056017del | CA2565681532 | COL4A4 | c.2645del (p.Gly882ValfsTer?) c.2090del (p.Gly697ValfsTer?) c.2537del (p.Gly846ValfsTer?) c.971del (p.Gly324ValfsTer?) n.2955del n.2971del | |
2 | g.227056017C>A | CA350840950 | COL4A4 | c.2644G>T (p.Gly882Cys) c.2089G>T (p.Gly697Cys) c.2536G>T (p.Gly846Cys) c.970G>T (p.Gly324Cys) n.2954G>T n.2970G>T | |
2 | g.227056017C>G | CA350840951 | COL4A4 | c.2644G>C (p.Gly882Arg) c.2089G>C (p.Gly697Arg) c.2536G>C (p.Gly846Arg) c.970G>C (p.Gly324Arg) n.2954G>C n.2970G>C | |
2 | g.227056017C>T | CA350840952 | COL4A4 | c.2644G>A (p.Gly882Ser) c.2089G>A (p.Gly697Ser) c.2536G>A (p.Gly846Ser) c.970G>A (p.Gly324Ser) n.2954G>A n.2970G>A | |
2 | g.227056017_227056018insTCCTGGA | CA2573135644 | COL4A4 | c.2643_2644insTCCAGGA (p.Gly882SerfsTer17) c.2088_2089insTCCAGGA (p.Gly697SerfsTer17) c.2535_2536insTCCAGGA (p.Gly846SerfsTer17) c.969_970insTCCAGGA (p.Gly324SerfsTer17) n.2953_2954insTCCAGGA n.2969_2970insTCCAGGA | dbSNP gnomAD v4 |
2 | g.227056018A>C | CA350840953 | COL4A4 | c.2643T>G (p.His881Gln) c.2088T>G (p.His696Gln) c.2535T>G (p.His845Gln) c.969T>G (p.His323Gln) n.2953T>G n.2969T>G | |
2 | g.227056018A>G | CA431499406 | COL4A4 | c.2643T>C (p.His881=) c.2088T>C (p.His696=) c.2535T>C (p.His845=) c.969T>C (p.His323=) n.2953T>C n.2969T>C | |
2 | g.227056018A>T | CA350840954 | COL4A4 | c.2643T>A (p.His881Gln) c.2088T>A (p.His696Gln) c.2535T>A (p.His845Gln) c.969T>A (p.His323Gln) n.2953T>A n.2969T>A | |
2 | g.227056019T>A | CA350840955 | COL4A4 | c.2642A>T (p.His881Leu) c.2087A>T (p.His696Leu) c.2534A>T (p.His845Leu) c.968A>T (p.His323Leu) n.2952A>T n.2968A>T | |
2 | g.227056019T>C | CA350840956 | COL4A4 | c.2642A>G (p.His881Arg) c.2087A>G (p.His696Arg) c.2534A>G (p.His845Arg) c.968A>G (p.His323Arg) n.2952A>G n.2968A>G | gnomAD v4 |
2 | g.227056019T>G | CA350840957 | COL4A4 | c.2642A>C (p.His881Pro) c.2087A>C (p.His696Pro) c.2534A>C (p.His845Pro) c.968A>C (p.His323Pro) n.2952A>C n.2968A>C | |
2 | g.227056020del | CA2586971464 | COL4A4 | c.2641del (p.His881MetfsTer?) c.2086del (p.His696MetfsTer?) c.2533del (p.His845MetfsTer?) c.967del (p.His323MetfsTer?) n.2951del n.2967del | |
2 | g.227056020G>A | CA350840958 | COL4A4 | c.2641C>T (p.His881Tyr) c.2086C>T (p.His696Tyr) c.2533C>T (p.His845Tyr) c.967C>T (p.His323Tyr) n.2951C>T n.2967C>T | gnomAD v4 |
2 | g.227056020G>C | CA350840959 | COL4A4 | c.2641C>G (p.His881Asp) c.2086C>G (p.His696Asp) c.2533C>G (p.His845Asp) c.967C>G (p.His323Asp) n.2951C>G n.2967C>G | |
2 | g.227056020G>T | CA350840960 | COL4A4 | c.2641C>A (p.His881Asn) c.2086C>A (p.His696Asn) c.2533C>A (p.His845Asn) c.967C>A (p.His323Asn) n.2951C>A n.2967C>A | |
2 | g.227056021T>A | CA431499407 | COL4A4 | c.2640A>T (p.Ala880=) c.2085A>T (p.Ala695=) c.2532A>T (p.Ala844=) c.966A>T (p.Ala322=) n.2950A>T n.2966A>T | |
2 | g.227056021T>C | CA431499408 | COL4A4 | c.2640A>G (p.Ala880=) c.2085A>G (p.Ala695=) c.2532A>G (p.Ala844=) c.966A>G (p.Ala322=) n.2950A>G n.2966A>G | |
2 | g.227056021T>G | CA431499409 | COL4A4 | c.2640A>C (p.Ala880=) c.2085A>C (p.Ala695=) c.2532A>C (p.Ala844=) c.966A>C (p.Ala322=) n.2950A>C n.2966A>C | |
2 | g.227056021_227056023delinsTGC | CA1332746345 | COL4A4 | c.2638_2640delinsGCA (p.Ala880=) c.2083_2085delinsGCA (p.Ala695=) c.2530_2532delinsGCA (p.Ala844=) c.964_966delinsGCA (p.Ala322=) n.2948_2950delinsGCA n.2964_2966delinsGCA | |
2 | g.227056022G>A | CA350840962 | COL4A4 | c.2639C>T (p.Ala880Val) c.2084C>T (p.Ala695Val) c.2531C>T (p.Ala844Val) c.965C>T (p.Ala322Val) n.2949C>T n.2965C>T | gnomAD v4 |
2 | g.227056022G>C | CA350840961 | COL4A4 | c.2639C>G (p.Ala880Gly) c.2084C>G (p.Ala695Gly) c.2531C>G (p.Ala844Gly) c.965C>G (p.Ala322Gly) n.2949C>G n.2965C>G | ClinVar |
2 | g.227056022G= | CA1332746346 | COL4A4 | c.2639C= (p.Ala880=) c.2084C= (p.Ala695=) c.2531C= (p.Ala844=) c.965C= (p.Ala322=) n.2949C= n.2965C= | |
2 | g.227056022G>T | CA2144753 | COL4A4 | c.2639C>A (p.Ala880Glu) c.2084C>A (p.Ala695Glu) c.2531C>A (p.Ala844Glu) c.965C>A (p.Ala322Glu) n.2949C>A n.2965C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227056022_227056023del | CA658653763 | COL4A4 | c.2638_2639del (p.Ala880ThrfsTer16) c.2083_2084del (p.Ala695ThrfsTer16) c.2530_2531del (p.Ala844ThrfsTer16) c.964_965del (p.Ala322ThrfsTer16) n.2948_2949del n.2964_2965del | ClinVar dbSNP |
2 | g.227056022_227056023delinsGC | CA1332746347 | COL4A4 | c.2638_2639delinsGC (p.Ala880=) c.2083_2084delinsGC (p.Ala695=) c.2530_2531delinsGC (p.Ala844=) c.964_965delinsGC (p.Ala322=) n.2948_2949delinsGC n.2964_2965delinsGC | |
2 | g.227056023C>A | CA350840964 | COL4A4 | c.2638G>T (p.Ala880Ser) c.2083G>T (p.Ala695Ser) c.2530G>T (p.Ala844Ser) c.964G>T (p.Ala322Ser) n.2948G>T n.2964G>T | |
2 | g.227056023C= | CA1332746348 | COL4A4 | c.2638G= (p.Ala880=) c.2083G= (p.Ala695=) c.2530G= (p.Ala844=) c.964G= (p.Ala322=) n.2948G= n.2964G= | |
2 | g.227056023C>G | CA350840963 | COL4A4 | c.2638G>C (p.Ala880Pro) c.2083G>C (p.Ala695Pro) c.2530G>C (p.Ala844Pro) c.964G>C (p.Ala322Pro) n.2948G>C n.2964G>C | |
2 | g.227056023C>T | CA66585125 | COL4A4 | c.2638G>A (p.Ala880Thr) c.2083G>A (p.Ala695Thr) c.2530G>A (p.Ala844Thr) c.964G>A (p.Ala322Thr) n.2948G>A n.2964G>A | dbSNP gnomAD v4 |
2 | g.227056026del | CA2144752 | COL4A4 | c.2638del (p.Ala880HisfsTer?) c.2083del (p.Ala695HisfsTer?) c.2530del (p.Ala844HisfsTer?) c.964del (p.Ala322HisfsTer?) n.2948del n.2964del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056024C>A | CA431499410 | COL4A4 | c.2637G>T (p.Gly879=) c.2082G>T (p.Gly694=) c.2529G>T (p.Gly843=) c.963G>T (p.Gly321=) n.2947G>T n.2963G>T | |
2 | g.227056024C= | CA1332746349 | COL4A4 | c.2637G= (p.Gly879=) c.2082G= (p.Gly694=) c.2529G= (p.Gly843=) c.963G= (p.Gly321=) n.2947G= n.2963G= | |
2 | g.227056024C>G | CA431499412 | COL4A4 | c.2637G>C (p.Gly879=) c.2082G>C (p.Gly694=) c.2529G>C (p.Gly843=) c.963G>C (p.Gly321=) n.2947G>C n.2963G>C | |
2 | g.227056024C>T | CA431499411 | COL4A4 | c.2637G>A (p.Gly879=) c.2082G>A (p.Gly694=) c.2529G>A (p.Gly843=) c.963G>A (p.Gly321=) n.2947G>A n.2963G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227056025C>A | CA350840965 | COL4A4 | c.2636G>T (p.Gly879Val) c.2081G>T (p.Gly694Val) c.2528G>T (p.Gly843Val) c.962G>T (p.Gly321Val) n.2946G>T n.2962G>T | |
2 | g.227056025C>G | CA350840966 | COL4A4 | c.2636G>C (p.Gly879Ala) c.2081G>C (p.Gly694Ala) c.2528G>C (p.Gly843Ala) c.962G>C (p.Gly321Ala) n.2946G>C n.2962G>C | |
2 | g.227056025C>T | CA350840967 | COL4A4 | c.2636G>A (p.Gly879Glu) c.2081G>A (p.Gly694Glu) c.2528G>A (p.Gly843Glu) c.962G>A (p.Gly321Glu) n.2946G>A n.2962G>A | |
2 | g.227056026C>A | CA350840968 | COL4A4 | c.2635G>T (p.Gly879Trp) c.2080G>T (p.Gly694Trp) c.2527G>T (p.Gly843Trp) c.961G>T (p.Gly321Trp) n.2945G>T n.2961G>T | |
2 | g.227056026C>G | CA350840969 | COL4A4 | c.2635G>C (p.Gly879Arg) c.2080G>C (p.Gly694Arg) c.2527G>C (p.Gly843Arg) c.961G>C (p.Gly321Arg) n.2945G>C n.2961G>C | |
2 | g.227056026C>T | CA350840970 | COL4A4 | c.2635G>A (p.Gly879Arg) c.2080G>A (p.Gly694Arg) c.2527G>A (p.Gly843Arg) c.961G>A (p.Gly321Arg) n.2945G>A n.2961G>A | ClinVar |
2 | g.227056027del | CA2586971465 | COL4A4 | c.2634del (p.Ala880HisfsTer?) c.2079del (p.Ala695HisfsTer?) c.2526del (p.Ala844HisfsTer?) c.960del (p.Ala322HisfsTer?) n.2944del n.2960del | |
2 | g.227056027A= | CA1332746350 | COL4A4 | c.2634T= (p.Pro878=) c.2079T= (p.Pro693=) c.2526T= (p.Pro842=) c.960T= (p.Pro320=) n.2944T= n.2960T= | |
2 | g.227056027A>C | CA431499413 | COL4A4 | c.2634T>G (p.Pro878=) c.2079T>G (p.Pro693=) c.2526T>G (p.Pro842=) c.960T>G (p.Pro320=) n.2944T>G n.2960T>G | ClinVar dbSNP |
2 | g.227056027A>G | CA2144754 | COL4A4 | c.2634T>C (p.Pro878=) c.2079T>C (p.Pro693=) c.2526T>C (p.Pro842=) c.960T>C (p.Pro320=) n.2944T>C n.2960T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227056027A>T | CA431499414 | COL4A4 | c.2634T>A (p.Pro878=) c.2079T>A (p.Pro693=) c.2526T>A (p.Pro842=) c.960T>A (p.Pro320=) n.2944T>A n.2960T>A | |
2 | g.227056028G>A | CA350840971 | COL4A4 | c.2633C>T (p.Pro878Leu) c.2078C>T (p.Pro693Leu) c.2525C>T (p.Pro842Leu) c.959C>T (p.Pro320Leu) n.2943C>T n.2959C>T | gnomAD v4 |
2 | g.227056028G>C | CA350840972 | COL4A4 | c.2633C>G (p.Pro878Arg) c.2078C>G (p.Pro693Arg) c.2525C>G (p.Pro842Arg) c.959C>G (p.Pro320Arg) n.2943C>G n.2959C>G | |
2 | g.227056028G>T | CA350840973 | COL4A4 | c.2633C>A (p.Pro878His) c.2078C>A (p.Pro693His) c.2525C>A (p.Pro842His) c.959C>A (p.Pro320His) n.2943C>A n.2959C>A | |
2 | g.227056029G>A | CA350840976 | COL4A4 | c.2632C>T (p.Pro878Ser) c.2077C>T (p.Pro693Ser) c.2524C>T (p.Pro842Ser) c.958C>T (p.Pro320Ser) n.2942C>T n.2958C>T | |
2 | g.227056029G>C | CA350840974 | COL4A4 | c.2632C>G (p.Pro878Ala) c.2077C>G (p.Pro693Ala) c.2524C>G (p.Pro842Ala) c.958C>G (p.Pro320Ala) n.2942C>G n.2958C>G | dbSNP |
2 | g.227056029G>T | CA350840975 | COL4A4 | c.2632C>A (p.Pro878Thr) c.2077C>A (p.Pro693Thr) c.2524C>A (p.Pro842Thr) c.958C>A (p.Pro320Thr) n.2942C>A n.2958C>A | |
2 | g.227056030C>A | CA431499415 | COL4A4 | c.2631G>T (p.Arg877=) c.2076G>T (p.Arg692=) c.2523G>T (p.Arg841=) c.957G>T (p.Arg319=) n.2941G>T n.2957G>T | ClinVar |
2 | g.227056030C>G | CA431499416 | COL4A4 | c.2631G>C (p.Arg877=) c.2076G>C (p.Arg692=) c.2523G>C (p.Arg841=) c.957G>C (p.Arg319=) n.2941G>C n.2957G>C | gnomAD v4 |
2 | g.227056030C>T | CA431499417 | COL4A4 | c.2631G>A (p.Arg877=) c.2076G>A (p.Arg692=) c.2523G>A (p.Arg841=) c.957G>A (p.Arg319=) n.2941G>A n.2957G>A | COSMIC |
2 | g.227056031C>A | CA350840977 | COL4A4 | c.2630G>T (p.Arg877Leu) c.2075G>T (p.Arg692Leu) c.2522G>T (p.Arg841Leu) c.956G>T (p.Arg319Leu) n.2940G>T n.2956G>T | |
2 | g.227056031C= | CA1332746351 | COL4A4 | c.2630G= (p.Arg877=) c.2075G= (p.Arg692=) c.2522G= (p.Arg841=) c.956G= (p.Arg319=) n.2940G= n.2956G= | |
2 | g.227056031C>G | CA350840978 | COL4A4 | c.2630G>C (p.Arg877Pro) c.2075G>C (p.Arg692Pro) c.2522G>C (p.Arg841Pro) c.956G>C (p.Arg319Pro) n.2940G>C n.2956G>C | |
2 | g.227056031C>T | CA2144755 | COL4A4 | c.2630G>A (p.Arg877Gln) c.2075G>A (p.Arg692Gln) c.2522G>A (p.Arg841Gln) c.956G>A (p.Arg319Gln) n.2940G>A n.2956G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |