Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.227054591T>C | CA2577263501 | COL4A4 | c.2860+3A>G (n.2860+3A>G) c.2305+3A>G (n.2305+3A>G) c.2752+3A>G (n.2752+3A>G) c.1186+3A>G (n.1186+3A>G) n.3170+3A>G n.3186+3A>G | |
2 | g.227054591T>G | CA539874944 | COL4A4 | c.2860+3A>C (n.2860+3A>C) c.2305+3A>C (n.2305+3A>C) c.2752+3A>C (n.2752+3A>C) c.1186+3A>C (n.1186+3A>C) n.3170+3A>C n.3186+3A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054591T= | CA1332745677 | COL4A4 | c.2860+3A= (n.2860+3A=) c.2305+3A= (n.2305+3A=) c.2752+3A= (n.2752+3A=) c.1186+3A= (n.1186+3A=) n.3170+3A= n.3186+3A= | |
2 | g.227054592A>C | CA350839913 | COL4A4 | c.2860+2T>G (n.2860+2T>G) c.2305+2T>G (n.2305+2T>G) c.2752+2T>G (n.2752+2T>G) c.1186+2T>G (n.1186+2T>G) n.3170+2T>G n.3186+2T>G | ClinVar dbSNP |
2 | g.227054592A>G | CA350839914 | COL4A4 | c.2860+2T>C (n.2860+2T>C) c.2305+2T>C (n.2305+2T>C) c.2752+2T>C (n.2752+2T>C) c.1186+2T>C (n.1186+2T>C) n.3170+2T>C n.3186+2T>C | |
2 | g.227054592A>T | CA350839915 | COL4A4 | c.2860+2T>A (n.2860+2T>A) c.2305+2T>A (n.2305+2T>A) c.2752+2T>A (n.2752+2T>A) c.1186+2T>A (n.1186+2T>A) n.3170+2T>A n.3186+2T>A | |
2 | g.227054593C>A | CA350839917 | COL4A4 | c.2860+1G>T (n.2860+1G>T) c.2305+1G>T (n.2305+1G>T) c.2752+1G>T (n.2752+1G>T) c.1186+1G>T (n.1186+1G>T) n.3170+1G>T n.3186+1G>T | |
2 | g.227054593C= | CA1332745678 | COL4A4 | c.2860+1G= (n.2860+1G=) c.2305+1G= (n.2305+1G=) c.2752+1G= (n.2752+1G=) c.1186+1G= (n.1186+1G=) n.3170+1G= n.3186+1G= | |
2 | g.227054593C>G | CA350839918 | COL4A4 | c.2860+1G>C (n.2860+1G>C) c.2305+1G>C (n.2305+1G>C) c.2752+1G>C (n.2752+1G>C) c.1186+1G>C (n.1186+1G>C) n.3170+1G>C n.3186+1G>C | |
2 | g.227054593C>T | CA350839919 | COL4A4 | c.2860+1G>A (n.2860+1G>A) c.2305+1G>A (n.2305+1G>A) c.2752+1G>A (n.2752+1G>A) c.1186+1G>A (n.1186+1G>A) n.3170+1G>A n.3186+1G>A | dbSNP |
2 | g.227054594C>A | CA350839921 | COL4A4 | c.2860G>T (p.Gly954Ter) c.2305G>T (p.Gly769Ter) c.2752G>T (p.Gly918Ter) c.1186G>T (p.Gly396Ter) n.3170G>T n.3186G>T | COSMIC |
2 | g.227054594C>G | CA350839922 | COL4A4 | c.2860G>C (p.Gly954Arg) c.2305G>C (p.Gly769Arg) c.2752G>C (p.Gly918Arg) c.1186G>C (p.Gly396Arg) n.3170G>C n.3186G>C | |
2 | g.227054594C>T | CA350839923 | COL4A4 | c.2860G>A (p.Gly954Arg) c.2305G>A (p.Gly769Arg) c.2752G>A (p.Gly918Arg) c.1186G>A (p.Gly396Arg) n.3170G>A n.3186G>A | ClinVar dbSNP |
2 | g.227054595T>A | CA350839924 | COL4A4 | c.2859A>T (p.Lys953Asn) c.2304A>T (p.Lys768Asn) c.2751A>T (p.Lys917Asn) c.1185A>T (p.Lys395Asn) n.3169A>T n.3185A>T | |
2 | g.227054595T>C | CA66583802 | COL4A4 | c.2859A>G (p.Lys953=) c.2304A>G (p.Lys768=) c.2751A>G (p.Lys917=) c.1185A>G (p.Lys395=) n.3169A>G n.3185A>G | dbSNP |
2 | g.227054595T>G | CA350839926 | COL4A4 | c.2859A>C (p.Lys953Asn) c.2304A>C (p.Lys768Asn) c.2751A>C (p.Lys917Asn) c.1185A>C (p.Lys395Asn) n.3169A>C n.3185A>C | |
2 | g.227054595T= | CA1332745679 | COL4A4 | c.2859A= (p.Lys953=) c.2304A= (p.Lys768=) c.2751A= (p.Lys917=) c.1185A= (p.Lys395=) n.3169A= n.3185A= | |
2 | g.227054596T>A | CA350839928 | COL4A4 | c.2858A>T (p.Lys953Ile) c.2303A>T (p.Lys768Ile) c.2750A>T (p.Lys917Ile) c.1184A>T (p.Lys395Ile) n.3168A>T n.3184A>T | |
2 | g.227054596T>C | CA350839931 | COL4A4 | c.2858A>G (p.Lys953Arg) c.2303A>G (p.Lys768Arg) c.2750A>G (p.Lys917Arg) c.1184A>G (p.Lys395Arg) n.3168A>G n.3184A>G | |
2 | g.227054596T>G | CA350839929 | COL4A4 | c.2858A>C (p.Lys953Thr) c.2303A>C (p.Lys768Thr) c.2750A>C (p.Lys917Thr) c.1184A>C (p.Lys395Thr) n.3168A>C n.3184A>C | |
2 | g.227054597T>A | CA350839932 | COL4A4 | c.2857A>T (p.Lys953Ter) c.2302A>T (p.Lys768Ter) c.2749A>T (p.Lys917Ter) c.1183A>T (p.Lys395Ter) n.3167A>T n.3183A>T | |
2 | g.227054597T>C | CA350839933 | COL4A4 | c.2857A>G (p.Lys953Glu) c.2302A>G (p.Lys768Glu) c.2749A>G (p.Lys917Glu) c.1183A>G (p.Lys395Glu) n.3167A>G n.3183A>G | |
2 | g.227054597T>G | CA350839935 | COL4A4 | c.2857A>C (p.Lys953Gln) c.2302A>C (p.Lys768Gln) c.2749A>C (p.Lys917Gln) c.1183A>C (p.Lys395Gln) n.3167A>C n.3183A>C | |
2 | g.227054598G>A | CA431499237 | COL4A4 | c.2856C>T (p.Ala952=) c.2301C>T (p.Ala767=) c.2748C>T (p.Ala916=) c.1182C>T (p.Ala394=) n.3166C>T n.3182C>T | |
2 | g.227054598G>C | CA431499239 | COL4A4 | c.2856C>G (p.Ala952=) c.2301C>G (p.Ala767=) c.2748C>G (p.Ala916=) c.1182C>G (p.Ala394=) n.3166C>G n.3182C>G | ClinVar |
2 | g.227054598G>T | CA431499238 | COL4A4 | c.2856C>A (p.Ala952=) c.2301C>A (p.Ala767=) c.2748C>A (p.Ala916=) c.1182C>A (p.Ala394=) n.3166C>A n.3182C>A | |
2 | g.227054599G>A | CA2144702 | COL4A4 | c.2855C>T (p.Ala952Val) c.2300C>T (p.Ala767Val) c.2747C>T (p.Ala916Val) c.1181C>T (p.Ala394Val) n.3165C>T n.3181C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054599G>C | CA350839938 | COL4A4 | c.2855C>G (p.Ala952Gly) c.2300C>G (p.Ala767Gly) c.2747C>G (p.Ala916Gly) c.1181C>G (p.Ala394Gly) n.3165C>G n.3181C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054599G= | CA1332745680 | COL4A4 | c.2855C= (p.Ala952=) c.2300C= (p.Ala767=) c.2747C= (p.Ala916=) c.1181C= (p.Ala394=) n.3165C= n.3181C= | |
2 | g.227054599G>T | CA350839939 | COL4A4 | c.2855C>A (p.Ala952Asp) c.2300C>A (p.Ala767Asp) c.2747C>A (p.Ala916Asp) c.1181C>A (p.Ala394Asp) n.3165C>A n.3181C>A | |
2 | g.227054600C>A | CA66583805 | COL4A4 | c.2854G>T (p.Ala952Ser) c.2299G>T (p.Ala767Ser) c.2746G>T (p.Ala916Ser) c.1180G>T (p.Ala394Ser) n.3164G>T n.3180G>T | dbSNP |
2 | g.227054600C= | CA1332745681 | COL4A4 | c.2854G= (p.Ala952=) c.2299G= (p.Ala767=) c.2746G= (p.Ala916=) c.1180G= (p.Ala394=) n.3164G= n.3180G= | |
2 | g.227054600C>G | CA350839941 | COL4A4 | c.2854G>C (p.Ala952Pro) c.2299G>C (p.Ala767Pro) c.2746G>C (p.Ala916Pro) c.1180G>C (p.Ala394Pro) n.3164G>C n.3180G>C | |
2 | g.227054600C>T | CA350839943 | COL4A4 | c.2854G>A (p.Ala952Thr) c.2299G>A (p.Ala767Thr) c.2746G>A (p.Ala916Thr) c.1180G>A (p.Ala394Thr) n.3164G>A n.3180G>A | dbSNP |
2 | g.227054601C>A | CA2144704 | COL4A4 | c.2853G>T (p.Gly951=) c.2298G>T (p.Gly766=) c.2745G>T (p.Gly915=) c.1179G>T (p.Gly393=) n.3163G>T n.3179G>T | dbSNP ExAC gnomAD v2 |
2 | g.227054601C= | CA1332745682 | COL4A4 | c.2853G= (p.Gly951=) c.2298G= (p.Gly766=) c.2745G= (p.Gly915=) c.1179G= (p.Gly393=) n.3163G= n.3179G= | |
2 | g.227054601C>G | CA2144703 | COL4A4 | c.2853G>C (p.Gly951=) c.2298G>C (p.Gly766=) c.2745G>C (p.Gly915=) c.1179G>C (p.Gly393=) n.3163G>C n.3179G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227054601C>T | CA431499240 | COL4A4 | c.2853G>A (p.Gly951=) c.2298G>A (p.Gly766=) c.2745G>A (p.Gly915=) c.1179G>A (p.Gly393=) n.3163G>A n.3179G>A | |
2 | g.227054602C>A | CA350839949 | COL4A4 | c.2852G>T (p.Gly951Val) c.2297G>T (p.Gly766Val) c.2744G>T (p.Gly915Val) c.1178G>T (p.Gly393Val) n.3162G>T n.3178G>T | |
2 | g.227054602C>G | CA350839948 | COL4A4 | c.2852G>C (p.Gly951Ala) c.2297G>C (p.Gly766Ala) c.2744G>C (p.Gly915Ala) c.1178G>C (p.Gly393Ala) n.3162G>C n.3178G>C | |
2 | g.227054602C>T | CA350839946 | COL4A4 | c.2852G>A (p.Gly951Glu) c.2297G>A (p.Gly766Glu) c.2744G>A (p.Gly915Glu) c.1178G>A (p.Gly393Glu) n.3162G>A n.3178G>A | |
2 | g.227054603C>A | CA350839950 | COL4A4 | c.2851G>T (p.Gly951Trp) c.2296G>T (p.Gly766Trp) c.2743G>T (p.Gly915Trp) c.1177G>T (p.Gly393Trp) n.3161G>T n.3177G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054603C= | CA1332745683 | COL4A4 | c.2851G= (p.Gly951=) c.2296G= (p.Gly766=) c.2743G= (p.Gly915=) c.1177G= (p.Gly393=) n.3161G= n.3177G= | |
2 | g.227054603C>G | CA350839952 | COL4A4 | c.2851G>C (p.Gly951Arg) c.2296G>C (p.Gly766Arg) c.2743G>C (p.Gly915Arg) c.1177G>C (p.Gly393Arg) n.3161G>C n.3177G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227054603C>T | CA350839954 | COL4A4 | c.2851G>A (p.Gly951Arg) c.2296G>A (p.Gly766Arg) c.2743G>A (p.Gly915Arg) c.1177G>A (p.Gly393Arg) n.3161G>A n.3177G>A | ClinVar dbSNP |
2 | g.227054604T>A | CA350839956 | COL4A4 | c.2850A>T (p.Arg950Ser) c.2295A>T (p.Arg765Ser) c.2742A>T (p.Arg914Ser) c.1176A>T (p.Arg392Ser) n.3160A>T n.3176A>T | |
2 | g.227054604T>C | CA431499241 | COL4A4 | c.2850A>G (p.Arg950=) c.2295A>G (p.Arg765=) c.2742A>G (p.Arg914=) c.1176A>G (p.Arg392=) n.3160A>G n.3176A>G | |
2 | g.227054604T>G | CA350839957 | COL4A4 | c.2850A>C (p.Arg950Ser) c.2295A>C (p.Arg765Ser) c.2742A>C (p.Arg914Ser) c.1176A>C (p.Arg392Ser) n.3160A>C n.3176A>C | dbSNP |
2 | g.227054604T= | CA1332745684 | COL4A4 | c.2850A= (p.Arg950=) c.2295A= (p.Arg765=) c.2742A= (p.Arg914=) c.1176A= (p.Arg392=) n.3160A= n.3176A= | |
2 | g.227054605C>A | CA350839959 | COL4A4 | c.2849G>T (p.Arg950Ile) c.2294G>T (p.Arg765Ile) c.2741G>T (p.Arg914Ile) c.1175G>T (p.Arg392Ile) n.3159G>T n.3175G>T | gnomAD v4 |
2 | g.227054605C= | CA1332745685 | COL4A4 | c.2849G= (p.Arg950=) c.2294G= (p.Arg765=) c.2741G= (p.Arg914=) c.1175G= (p.Arg392=) n.3159G= n.3175G= | |
2 | g.227054605C>G | CA350839961 | COL4A4 | c.2849G>C (p.Arg950Thr) c.2294G>C (p.Arg765Thr) c.2741G>C (p.Arg914Thr) c.1175G>C (p.Arg392Thr) n.3159G>C n.3175G>C | dbSNP gnomAD v4 |
2 | g.227054605C>T | CA350839962 | COL4A4 | c.2849G>A (p.Arg950Lys) c.2294G>A (p.Arg765Lys) c.2741G>A (p.Arg914Lys) c.1175G>A (p.Arg392Lys) n.3159G>A n.3175G>A | |
2 | g.227054606T>A | CA350839964 | COL4A4 | c.2848A>T (p.Arg950Ter) c.2293A>T (p.Arg765Ter) c.2740A>T (p.Arg914Ter) c.1174A>T (p.Arg392Ter) n.3158A>T n.3174A>T | |
2 | g.227054606T>C | CA350839966 | COL4A4 | c.2848A>G (p.Arg950Gly) c.2293A>G (p.Arg765Gly) c.2740A>G (p.Arg914Gly) c.1174A>G (p.Arg392Gly) n.3158A>G n.3174A>G | |
2 | g.227054606T>G | CA431499242 | COL4A4 | c.2848A>C (p.Arg950=) c.2293A>C (p.Arg765=) c.2740A>C (p.Arg914=) c.1174A>C (p.Arg392=) n.3158A>C n.3174A>C | ClinVar |
2 | g.227054607C>A | CA431499245 | COL4A4 | c.2847G>T (p.Leu949=) c.2292G>T (p.Leu764=) c.2739G>T (p.Leu913=) c.1173G>T (p.Leu391=) n.3157G>T n.3173G>T | dbSNP gnomAD v4 COSMIC |
2 | g.227054607C= | CA1332745686 | COL4A4 | c.2847G= (p.Leu949=) c.2292G= (p.Leu764=) c.2739G= (p.Leu913=) c.1173G= (p.Leu391=) n.3157G= n.3173G= | |
2 | g.227054607C>G | CA431499243 | COL4A4 | c.2847G>C (p.Leu949=) c.2292G>C (p.Leu764=) c.2739G>C (p.Leu913=) c.1173G>C (p.Leu391=) n.3157G>C n.3173G>C | |
2 | g.227054607C>T | CA431499244 | COL4A4 | c.2847G>A (p.Leu949=) c.2292G>A (p.Leu764=) c.2739G>A (p.Leu913=) c.1173G>A (p.Leu391=) n.3157G>A n.3173G>A | |
2 | g.227054608A= | CA1332745687 | COL4A4 | c.2846T= (p.Leu949=) c.2291T= (p.Leu764=) c.2738T= (p.Leu913=) c.1172T= (p.Leu391=) n.3156T= n.3172T= | |
2 | g.227054608A>C | CA66583822 | COL4A4 | c.2846T>G (p.Leu949Arg) c.2291T>G (p.Leu764Arg) c.2738T>G (p.Leu913Arg) c.1172T>G (p.Leu391Arg) n.3156T>G n.3172T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054608A>G | CA2144705 | COL4A4 | c.2846T>C (p.Leu949Pro) c.2291T>C (p.Leu764Pro) c.2738T>C (p.Leu913Pro) c.1172T>C (p.Leu391Pro) n.3156T>C n.3172T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227054608A>T | CA350839968 | COL4A4 | c.2846T>A (p.Leu949Gln) c.2291T>A (p.Leu764Gln) c.2738T>A (p.Leu913Gln) c.1172T>A (p.Leu391Gln) n.3156T>A n.3172T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054609G>A | CA431499246 | COL4A4 | c.2845C>T (p.Leu949=) c.2290C>T (p.Leu764=) c.2737C>T (p.Leu913=) c.1171C>T (p.Leu391=) n.3155C>T n.3171C>T | ClinVar dbSNP |
2 | g.227054609G>C | CA350839970 | COL4A4 | c.2845C>G (p.Leu949Val) c.2290C>G (p.Leu764Val) c.2737C>G (p.Leu913Val) c.1171C>G (p.Leu391Val) n.3155C>G n.3171C>G | |
2 | g.227054609G>T | CA350839972 | COL4A4 | c.2845C>A (p.Leu949Met) c.2290C>A (p.Leu764Met) c.2737C>A (p.Leu913Met) c.1171C>A (p.Leu391Met) n.3155C>A n.3171C>A | |
2 | g.227054610T>A | CA431499247 | COL4A4 | c.2844A>T (p.Gly948=) c.2289A>T (p.Gly763=) c.2736A>T (p.Gly912=) c.1170A>T (p.Gly390=) n.3154A>T n.3170A>T | |
2 | g.227054610T>C | CA431499248 | COL4A4 | c.2844A>G (p.Gly948=) c.2289A>G (p.Gly763=) c.2736A>G (p.Gly912=) c.1170A>G (p.Gly390=) n.3154A>G n.3170A>G | gnomAD v4 |
2 | g.227054610T>G | CA431499249 | COL4A4 | c.2844A>C (p.Gly948=) c.2289A>C (p.Gly763=) c.2736A>C (p.Gly912=) c.1170A>C (p.Gly390=) n.3154A>C n.3170A>C | |
2 | g.227054611C>A | CA2144706 | COL4A4 | c.2843G>T (p.Gly948Val) c.2288G>T (p.Gly763Val) c.2735G>T (p.Gly912Val) c.1169G>T (p.Gly390Val) n.3153G>T n.3169G>T | dbSNP ExAC gnomAD v2 |
2 | g.227054611C= | CA1332745688 | COL4A4 | c.2843G= (p.Gly948=) c.2288G= (p.Gly763=) c.2735G= (p.Gly912=) c.1169G= (p.Gly390=) n.3153G= n.3169G= | |
2 | g.227054611C>G | CA350839976 | COL4A4 | c.2843G>C (p.Gly948Ala) c.2288G>C (p.Gly763Ala) c.2735G>C (p.Gly912Ala) c.1169G>C (p.Gly390Ala) n.3153G>C n.3169G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054611C>T | CA350839974 | COL4A4 | c.2843G>A (p.Gly948Glu) c.2288G>A (p.Gly763Glu) c.2735G>A (p.Gly912Glu) c.1169G>A (p.Gly390Glu) n.3153G>A n.3169G>A | dbSNP |
2 | g.227054614del | CA2586971579 | COL4A4 | c.2843del (p.Gly948AspfsTer2) c.2288del (p.Gly763AspfsTer2) c.2735del (p.Gly912AspfsTer2) c.1169del (p.Gly390AspfsTer2) n.3153del n.3169del | |
2 | g.227054612C>A | CA350839977 | COL4A4 | c.2842G>T (p.Gly948Ter) c.2287G>T (p.Gly763Ter) c.2734G>T (p.Gly912Ter) c.1168G>T (p.Gly390Ter) n.3152G>T n.3168G>T | ClinVar dbSNP |
2 | g.227054612C>G | CA350839980 | COL4A4 | c.2842G>C (p.Gly948Arg) c.2287G>C (p.Gly763Arg) c.2734G>C (p.Gly912Arg) c.1168G>C (p.Gly390Arg) n.3152G>C n.3168G>C | |
2 | g.227054612C>T | CA350839978 | COL4A4 | c.2842G>A (p.Gly948Arg) c.2287G>A (p.Gly763Arg) c.2734G>A (p.Gly912Arg) c.1168G>A (p.Gly390Arg) n.3152G>A n.3168G>A | ClinVar |
2 | g.227054613C>A | CA431499252 | COL4A4 | c.2841G>T (p.Arg947=) c.2286G>T (p.Arg762=) c.2733G>T (p.Arg911=) c.1167G>T (p.Arg389=) n.3151G>T n.3167G>T | |
2 | g.227054613C>G | CA431499250 | COL4A4 | c.2841G>C (p.Arg947=) c.2286G>C (p.Arg762=) c.2733G>C (p.Arg911=) c.1167G>C (p.Arg389=) n.3151G>C n.3167G>C | |
2 | g.227054613C>T | CA431499251 | COL4A4 | c.2841G>A (p.Arg947=) c.2286G>A (p.Arg762=) c.2733G>A (p.Arg911=) c.1167G>A (p.Arg389=) n.3151G>A n.3167G>A | ClinVar |
2 | g.227054615_227054621del | CA2577263502 | COL4A4 | c.2835_2841del (p.Arg947Ter) c.2280_2286del (p.Arg762Ter) c.2727_2733del (p.Arg911Ter) c.1161_1167del (p.Arg389Ter) n.3145_3151del n.3161_3167del | |
2 | g.227054614C>A | CA350839982 | COL4A4 | c.2840G>T (p.Arg947Leu) c.2285G>T (p.Arg762Leu) c.2732G>T (p.Arg911Leu) c.1166G>T (p.Arg389Leu) n.3150G>T n.3166G>T | |
2 | g.227054614C= | CA1332745689 | COL4A4 | c.2840G= (p.Arg947=) c.2285G= (p.Arg762=) c.2732G= (p.Arg911=) c.1166G= (p.Arg389=) n.3150G= n.3166G= | |
2 | g.227054614C>G | CA350839984 | COL4A4 | c.2840G>C (p.Arg947Pro) c.2285G>C (p.Arg762Pro) c.2732G>C (p.Arg911Pro) c.1166G>C (p.Arg389Pro) n.3150G>C n.3166G>C | gnomAD v4 |
2 | g.227054614C>T | CA2144707 | COL4A4 | c.2840G>A (p.Arg947Gln) c.2285G>A (p.Arg762Gln) c.2732G>A (p.Arg911Gln) c.1166G>A (p.Arg389Gln) n.3150G>A n.3166G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054615G>A | CA2144708 | COL4A4 | c.2839C>T (p.Arg947Trp) c.2284C>T (p.Arg762Trp) c.2731C>T (p.Arg911Trp) c.1165C>T (p.Arg389Trp) n.3149C>T n.3165C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054615G>C | CA350839986 | COL4A4 | c.2839C>G (p.Arg947Gly) c.2284C>G (p.Arg762Gly) c.2731C>G (p.Arg911Gly) c.1165C>G (p.Arg389Gly) n.3149C>G n.3165C>G | gnomAD v4 |
2 | g.227054615G= | CA1332745690 | COL4A4 | c.2839C= (p.Arg947=) c.2284C= (p.Arg762=) c.2731C= (p.Arg911=) c.1165C= (p.Arg389=) n.3149C= n.3165C= | |
2 | g.227054615G>T | CA431499253 | COL4A4 | c.2839C>A (p.Arg947=) c.2284C>A (p.Arg762=) c.2731C>A (p.Arg911=) c.1165C>A (p.Arg389=) n.3149C>A n.3165C>A | |
2 | g.227054616G>A | CA431499254 | COL4A4 | c.2838C>T (p.Asp946=) c.2283C>T (p.Asp761=) c.2730C>T (p.Asp910=) c.1164C>T (p.Asp388=) n.3148C>T n.3164C>T | |
2 | g.227054616G>C | CA350839988 | COL4A4 | c.2838C>G (p.Asp946Glu) c.2283C>G (p.Asp761Glu) c.2730C>G (p.Asp910Glu) c.1164C>G (p.Asp388Glu) n.3148C>G n.3164C>G | |
2 | g.227054616G>T | CA350839990 | COL4A4 | c.2838C>A (p.Asp946Glu) c.2283C>A (p.Asp761Glu) c.2730C>A (p.Asp910Glu) c.1164C>A (p.Asp388Glu) n.3148C>A n.3164C>A | |
2 | g.227054617T>A | CA350839991 | COL4A4 | c.2837A>T (p.Asp946Val) c.2282A>T (p.Asp761Val) c.2729A>T (p.Asp910Val) c.1163A>T (p.Asp388Val) n.3147A>T n.3163A>T | |
2 | g.227054617T>C | CA350839992 | COL4A4 | c.2837A>G (p.Asp946Gly) c.2282A>G (p.Asp761Gly) c.2729A>G (p.Asp910Gly) c.1163A>G (p.Asp388Gly) n.3147A>G n.3163A>G | |
2 | g.227054617T>G | CA350839994 | COL4A4 | c.2837A>C (p.Asp946Ala) c.2282A>C (p.Asp761Ala) c.2729A>C (p.Asp910Ala) c.1163A>C (p.Asp388Ala) n.3147A>C n.3163A>C | |
2 | g.227054618C>A | CA350839996 | COL4A4 | c.2836G>T (p.Asp946Tyr) c.2281G>T (p.Asp761Tyr) c.2728G>T (p.Asp910Tyr) c.1162G>T (p.Asp388Tyr) n.3146G>T n.3162G>T | |
2 | g.227054618C>G | CA350839997 | COL4A4 | c.2836G>C (p.Asp946His) c.2281G>C (p.Asp761His) c.2728G>C (p.Asp910His) c.1162G>C (p.Asp388His) n.3146G>C n.3162G>C | |
2 | g.227054618C>T | CA350839999 | COL4A4 | c.2836G>A (p.Asp946Asn) c.2281G>A (p.Asp761Asn) c.2728G>A (p.Asp910Asn) c.1162G>A (p.Asp388Asn) n.3146G>A n.3162G>A | COSMIC |
2 | g.227054619T>A | CA431499255 | COL4A4 | c.2835A>T (p.Gly945=) c.2280A>T (p.Gly760=) c.2727A>T (p.Gly909=) c.1161A>T (p.Gly387=) n.3145A>T n.3161A>T | |
2 | g.227054619T>C | CA431499256 | COL4A4 | c.2835A>G (p.Gly945=) c.2280A>G (p.Gly760=) c.2727A>G (p.Gly909=) c.1161A>G (p.Gly387=) n.3145A>G n.3161A>G | |
2 | g.227054619T>G | CA431499257 | COL4A4 | c.2835A>C (p.Gly945=) c.2280A>C (p.Gly760=) c.2727A>C (p.Gly909=) c.1161A>C (p.Gly387=) n.3145A>C n.3161A>C | |
2 | g.227054620C>A | CA350840000 | COL4A4 | c.2834G>T (p.Gly945Val) c.2279G>T (p.Gly760Val) c.2726G>T (p.Gly909Val) c.1160G>T (p.Gly387Val) n.3144G>T n.3160G>T | |
2 | g.227054620C>G | CA350840002 | COL4A4 | c.2834G>C (p.Gly945Ala) c.2279G>C (p.Gly760Ala) c.2726G>C (p.Gly909Ala) c.1160G>C (p.Gly387Ala) n.3144G>C n.3160G>C | |
2 | g.227054620C>T | CA350840004 | COL4A4 | c.2834G>A (p.Gly945Glu) c.2279G>A (p.Gly760Glu) c.2726G>A (p.Gly909Glu) c.1160G>A (p.Gly387Glu) n.3144G>A n.3160G>A | |
2 | g.227054621C>A | CA350840005 | COL4A4 | c.2833G>T (p.Gly945Ter) c.2278G>T (p.Gly760Ter) c.2725G>T (p.Gly909Ter) c.1159G>T (p.Gly387Ter) n.3143G>T n.3159G>T | ClinVar dbSNP |
2 | g.227054621C= | CA1332745691 | COL4A4 | c.2833G= (p.Gly945=) c.2278G= (p.Gly760=) c.2725G= (p.Gly909=) c.1159G= (p.Gly387=) n.3143G= n.3159G= | |
2 | g.227054621C>G | CA350840008 | COL4A4 | c.2833G>C (p.Gly945Arg) c.2278G>C (p.Gly760Arg) c.2725G>C (p.Gly909Arg) c.1159G>C (p.Gly387Arg) n.3143G>C n.3159G>C | |
2 | g.227054621C>T | CA350840007 | COL4A4 | c.2833G>A (p.Gly945Arg) c.2278G>A (p.Gly760Arg) c.2725G>A (p.Gly909Arg) c.1159G>A (p.Gly387Arg) n.3143G>A n.3159G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054622A>C | CA431499259 | COL4A4 | c.2832T>G (p.Pro944=) c.2277T>G (p.Pro759=) c.2724T>G (p.Pro908=) c.1158T>G (p.Pro386=) n.3142T>G n.3158T>G | |
2 | g.227054622A>G | CA431499260 | COL4A4 | c.2832T>C (p.Pro944=) c.2277T>C (p.Pro759=) c.2724T>C (p.Pro908=) c.1158T>C (p.Pro386=) n.3142T>C n.3158T>C | dbSNP |
2 | g.227054622A>T | CA431499258 | COL4A4 | c.2832T>A (p.Pro944=) c.2277T>A (p.Pro759=) c.2724T>A (p.Pro908=) c.1158T>A (p.Pro386=) n.3142T>A n.3158T>A | |
2 | g.227054623G>A | CA350840010 | COL4A4 | c.2831C>T (p.Pro944Leu) c.2276C>T (p.Pro759Leu) c.2723C>T (p.Pro908Leu) c.1157C>T (p.Pro386Leu) n.3141C>T n.3157C>T | dbSNP gnomAD v4 |
2 | g.227054623G>C | CA350840012 | COL4A4 | c.2831C>G (p.Pro944Arg) c.2276C>G (p.Pro759Arg) c.2723C>G (p.Pro908Arg) c.1157C>G (p.Pro386Arg) n.3141C>G n.3157C>G | |
2 | g.227054623G>T | CA350840013 | COL4A4 | c.2831C>A (p.Pro944His) c.2276C>A (p.Pro759His) c.2723C>A (p.Pro908His) c.1157C>A (p.Pro386His) n.3141C>A n.3157C>A | |
2 | g.227054624G>A | CA350840015 | COL4A4 | c.2830C>T (p.Pro944Ser) c.2275C>T (p.Pro759Ser) c.2722C>T (p.Pro908Ser) c.1156C>T (p.Pro386Ser) n.3140C>T n.3156C>T | COSMIC |
2 | g.227054624G>C | CA350840017 | COL4A4 | c.2830C>G (p.Pro944Ala) c.2275C>G (p.Pro759Ala) c.2722C>G (p.Pro908Ala) c.1156C>G (p.Pro386Ala) n.3140C>G n.3156C>G | |
2 | g.227054624G>T | CA350840018 | COL4A4 | c.2830C>A (p.Pro944Thr) c.2275C>A (p.Pro759Thr) c.2722C>A (p.Pro908Thr) c.1156C>A (p.Pro386Thr) n.3140C>A n.3156C>A | COSMIC |
2 | g.227054625A>C | CA431499261 | COL4A4 | c.2829T>G (p.Leu943=) c.2274T>G (p.Leu758=) c.2721T>G (p.Leu907=) c.1155T>G (p.Leu385=) n.3139T>G n.3155T>G | |
2 | g.227054625A>G | CA431499262 | COL4A4 | c.2829T>C (p.Leu943=) c.2274T>C (p.Leu758=) c.2721T>C (p.Leu907=) c.1155T>C (p.Leu385=) n.3139T>C n.3155T>C | |
2 | g.227054625A>T | CA431499263 | COL4A4 | c.2829T>A (p.Leu943=) c.2274T>A (p.Leu758=) c.2721T>A (p.Leu907=) c.1155T>A (p.Leu385=) n.3139T>A n.3155T>A | |
2 | g.227054626A>C | CA350840019 | COL4A4 | c.2828T>G (p.Leu943Arg) c.2273T>G (p.Leu758Arg) c.2720T>G (p.Leu907Arg) c.1154T>G (p.Leu385Arg) n.3138T>G n.3154T>G | |
2 | g.227054626A>G | CA350840021 | COL4A4 | c.2828T>C (p.Leu943Pro) c.2273T>C (p.Leu758Pro) c.2720T>C (p.Leu907Pro) c.1154T>C (p.Leu385Pro) n.3138T>C n.3154T>C | |
2 | g.227054626A>T | CA350840022 | COL4A4 | c.2828T>A (p.Leu943His) c.2273T>A (p.Leu758His) c.2720T>A (p.Leu907His) c.1154T>A (p.Leu385His) n.3138T>A n.3154T>A | |
2 | g.227054627G>A | CA350840027 | COL4A4 | c.2827C>T (p.Leu943Phe) c.2272C>T (p.Leu758Phe) c.2719C>T (p.Leu907Phe) c.1153C>T (p.Leu385Phe) n.3137C>T n.3153C>T | |
2 | g.227054627G>C | CA350840026 | COL4A4 | c.2827C>G (p.Leu943Val) c.2272C>G (p.Leu758Val) c.2719C>G (p.Leu907Val) c.1153C>G (p.Leu385Val) n.3137C>G n.3153C>G | |
2 | g.227054627G= | CA1332745692 | COL4A4 | c.2827C= (p.Leu943=) c.2272C= (p.Leu758=) c.2719C= (p.Leu907=) c.1153C= (p.Leu385=) n.3137C= n.3153C= | |
2 | g.227054627G>T | CA350840024 | COL4A4 | c.2827C>A (p.Leu943Ile) c.2272C>A (p.Leu758Ile) c.2719C>A (p.Leu907Ile) c.1153C>A (p.Leu385Ile) n.3137C>A n.3153C>A | dbSNP gnomAD v4 |
2 | g.227054628G>A | CA431499264 | COL4A4 | c.2826C>T (p.Gly942=) c.2271C>T (p.Gly757=) c.2718C>T (p.Gly906=) c.1152C>T (p.Gly384=) n.3136C>T n.3152C>T | |
2 | g.227054628G>C | CA431499265 | COL4A4 | c.2826C>G (p.Gly942=) c.2271C>G (p.Gly757=) c.2718C>G (p.Gly906=) c.1152C>G (p.Gly384=) n.3136C>G n.3152C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227054628G= | CA1332745693 | COL4A4 | c.2826C= (p.Gly942=) c.2271C= (p.Gly757=) c.2718C= (p.Gly906=) c.1152C= (p.Gly384=) n.3136C= n.3152C= | |
2 | g.227054628G>T | CA431499266 | COL4A4 | c.2826C>A (p.Gly942=) c.2271C>A (p.Gly757=) c.2718C>A (p.Gly906=) c.1152C>A (p.Gly384=) n.3136C>A n.3152C>A | ClinVar |
2 | g.227054628_227054629insTG | CA658821237 | COL4A4 | c.2826_2827insAC (p.Leu943ThrfsTer8) c.2271_2272insAC (p.Leu758ThrfsTer8) c.2718_2719insAC (p.Leu907ThrfsTer8) c.1152_1153insAC (p.Leu385ThrfsTer8) n.3136_3137insAC n.3152_3153insAC | ClinVar dbSNP |
2 | g.227054629C>A | CA350840029 | COL4A4 | c.2825G>T (p.Gly942Val) c.2270G>T (p.Gly757Val) c.2717G>T (p.Gly906Val) c.1151G>T (p.Gly384Val) n.3135G>T n.3151G>T | |
2 | g.227054629C>G | CA350840031 | COL4A4 | c.2825G>C (p.Gly942Ala) c.2270G>C (p.Gly757Ala) c.2717G>C (p.Gly906Ala) c.1151G>C (p.Gly384Ala) n.3135G>C n.3151G>C | |
2 | g.227054629C>T | CA350840032 | COL4A4 | c.2825G>A (p.Gly942Asp) c.2270G>A (p.Gly757Asp) c.2717G>A (p.Gly906Asp) c.1151G>A (p.Gly384Asp) n.3135G>A n.3151G>A | |
2 | g.227054630C>A | CA350840034 | COL4A4 | c.2824G>T (p.Gly942Cys) c.2269G>T (p.Gly757Cys) c.2716G>T (p.Gly906Cys) c.1150G>T (p.Gly384Cys) n.3134G>T n.3150G>T | |
2 | g.227054630C>G | CA350840035 | COL4A4 | c.2824G>C (p.Gly942Arg) c.2269G>C (p.Gly757Arg) c.2716G>C (p.Gly906Arg) c.1150G>C (p.Gly384Arg) n.3134G>C n.3150G>C | |
2 | g.227054630C>T | CA350840036 | COL4A4 | c.2824G>A (p.Gly942Ser) c.2269G>A (p.Gly757Ser) c.2716G>A (p.Gly906Ser) c.1150G>A (p.Gly384Ser) n.3134G>A n.3150G>A | gnomAD v4 |
2 | g.227054631A>C | CA431499267 | COL4A4 | c.2823T>G (p.Ser941=) c.2268T>G (p.Ser756=) c.2715T>G (p.Ser905=) c.1149T>G (p.Ser383=) n.3133T>G n.3149T>G | |
2 | g.227054631A>G | CA431499268 | COL4A4 | c.2823T>C (p.Ser941=) c.2268T>C (p.Ser756=) c.2715T>C (p.Ser905=) c.1149T>C (p.Ser383=) n.3133T>C n.3149T>C | |
2 | g.227054631A>T | CA431499269 | COL4A4 | c.2823T>A (p.Ser941=) c.2268T>A (p.Ser756=) c.2715T>A (p.Ser905=) c.1149T>A (p.Ser383=) n.3133T>A n.3149T>A | |
2 | g.227054632G>A | CA350840038 | COL4A4 | c.2822C>T (p.Ser941Phe) c.2267C>T (p.Ser756Phe) c.2714C>T (p.Ser905Phe) c.1148C>T (p.Ser383Phe) n.3132C>T n.3148C>T | |
2 | g.227054632G>C | CA350840039 | COL4A4 | c.2822C>G (p.Ser941Cys) c.2267C>G (p.Ser756Cys) c.2714C>G (p.Ser905Cys) c.1148C>G (p.Ser383Cys) n.3132C>G n.3148C>G | |
2 | g.227054632G>T | CA350840040 | COL4A4 | c.2822C>A (p.Ser941Tyr) c.2267C>A (p.Ser756Tyr) c.2714C>A (p.Ser905Tyr) c.1148C>A (p.Ser383Tyr) n.3132C>A n.3148C>A | gnomAD v4 |
2 | g.227054633A>C | CA350840042 | COL4A4 | c.2821T>G (p.Ser941Ala) c.2266T>G (p.Ser756Ala) c.2713T>G (p.Ser905Ala) c.1147T>G (p.Ser383Ala) n.3131T>G n.3147T>G | |
2 | g.227054633A>G | CA350840044 | COL4A4 | c.2821T>C (p.Ser941Pro) c.2266T>C (p.Ser756Pro) c.2713T>C (p.Ser905Pro) c.1147T>C (p.Ser383Pro) n.3131T>C n.3147T>C | |
2 | g.227054633A>T | CA350840046 | COL4A4 | c.2821T>A (p.Ser941Thr) c.2266T>A (p.Ser756Thr) c.2713T>A (p.Ser905Thr) c.1147T>A (p.Ser383Thr) n.3131T>A n.3147T>A | |
2 | g.227054634C>A | CA350840050 | COL4A4 | c.2820G>T (p.Met940Ile) c.2265G>T (p.Met755Ile) c.2712G>T (p.Met904Ile) c.1146G>T (p.Met382Ile) n.3130G>T n.3146G>T | |
2 | g.227054634C= | CA1332745694 | COL4A4 | c.2820G= (p.Met940=) c.2265G= (p.Met755=) c.2712G= (p.Met904=) c.1146G= (p.Met382=) n.3130G= n.3146G= | |
2 | g.227054634C>G | CA350840047 | COL4A4 | c.2820G>C (p.Met940Ile) c.2265G>C (p.Met755Ile) c.2712G>C (p.Met904Ile) c.1146G>C (p.Met382Ile) n.3130G>C n.3146G>C | |
2 | g.227054634C>T | CA350840048 | COL4A4 | c.2820G>A (p.Met940Ile) c.2265G>A (p.Met755Ile) c.2712G>A (p.Met904Ile) c.1146G>A (p.Met382Ile) n.3130G>A n.3146G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054635A= | CA1332745695 | COL4A4 | c.2819T= (p.Met940=) c.2264T= (p.Met755=) c.2711T= (p.Met904=) c.1145T= (p.Met382=) n.3129T= n.3145T= | |
2 | g.227054635A>C | CA350840052 | COL4A4 | c.2819T>G (p.Met940Arg) c.2264T>G (p.Met755Arg) c.2711T>G (p.Met904Arg) c.1145T>G (p.Met382Arg) n.3129T>G n.3145T>G | |
2 | g.227054635A>G | CA2144709 | COL4A4 | c.2819T>C (p.Met940Thr) c.2264T>C (p.Met755Thr) c.2711T>C (p.Met904Thr) c.1145T>C (p.Met382Thr) n.3129T>C n.3145T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054635A>T | CA350840054 | COL4A4 | c.2819T>A (p.Met940Lys) c.2264T>A (p.Met755Lys) c.2711T>A (p.Met904Lys) c.1145T>A (p.Met382Lys) n.3129T>A n.3145T>A | |
2 | g.227054635_227054637delinsTGTCTCTTATA | CA2580065865 | COL4A4 | c.2817_2819delinsTATAAGAGACA (p.Met940IlefsTer13) c.2262_2264delinsTATAAGAGACA (p.Met755IlefsTer13) c.2709_2711delinsTATAAGAGACA (p.Met904IlefsTer13) c.1143_1145delinsTATAAGAGACA (p.Met382IlefsTer13) n.3127_3129delinsTATAAGAGACA n.3143_3145delinsTATAAGAGACA | ClinVar |
2 | g.227054636T>A | CA350840055 | COL4A4 | c.2818A>T (p.Met940Leu) c.2263A>T (p.Met755Leu) c.2710A>T (p.Met904Leu) c.1144A>T (p.Met382Leu) n.3128A>T n.3144A>T | |
2 | g.227054636T>C | CA350840056 | COL4A4 | c.2818A>G (p.Met940Val) c.2263A>G (p.Met755Val) c.2710A>G (p.Met904Val) c.1144A>G (p.Met382Val) n.3128A>G n.3144A>G | |
2 | g.227054636T>G | CA350840058 | COL4A4 | c.2818A>C (p.Met940Leu) c.2263A>C (p.Met755Leu) c.2710A>C (p.Met904Leu) c.1144A>C (p.Met382Leu) n.3128A>C n.3144A>C | |
2 | g.227054637G>A | CA431499270 | COL4A4 | c.2817C>T (p.Gly939=) c.2262C>T (p.Gly754=) c.2709C>T (p.Gly903=) c.1143C>T (p.Gly381=) n.3127C>T n.3143C>T | gnomAD v4 |
2 | g.227054637G>C | CA431499271 | COL4A4 | c.2817C>G (p.Gly939=) c.2262C>G (p.Gly754=) c.2709C>G (p.Gly903=) c.1143C>G (p.Gly381=) n.3127C>G n.3143C>G | |
2 | g.227054637G>T | CA431499272 | COL4A4 | c.2817C>A (p.Gly939=) c.2262C>A (p.Gly754=) c.2709C>A (p.Gly903=) c.1143C>A (p.Gly381=) n.3127C>A n.3143C>A | |
2 | g.227054638C>A | CA350840060 | COL4A4 | c.2816G>T (p.Gly939Val) c.2261G>T (p.Gly754Val) c.2708G>T (p.Gly903Val) c.1142G>T (p.Gly381Val) n.3126G>T n.3142G>T | dbSNP gnomAD v4 |
2 | g.227054638C= | CA1332745696 | COL4A4 | c.2816G= (p.Gly939=) c.2261G= (p.Gly754=) c.2708G= (p.Gly903=) c.1142G= (p.Gly381=) n.3126G= n.3142G= | |
2 | g.227054638C>G | CA350840062 | COL4A4 | c.2816G>C (p.Gly939Ala) c.2261G>C (p.Gly754Ala) c.2708G>C (p.Gly903Ala) c.1142G>C (p.Gly381Ala) n.3126G>C n.3142G>C | |
2 | g.227054638C>T | CA350840063 | COL4A4 | c.2816G>A (p.Gly939Asp) c.2261G>A (p.Gly754Asp) c.2708G>A (p.Gly903Asp) c.1142G>A (p.Gly381Asp) n.3126G>A n.3142G>A | |
2 | g.227054639C>A | CA350840064 | COL4A4 | c.2815G>T (p.Gly939Cys) c.2260G>T (p.Gly754Cys) c.2707G>T (p.Gly903Cys) c.1141G>T (p.Gly381Cys) n.3125G>T n.3141G>T | |
2 | g.227054639C>G | CA350840066 | COL4A4 | c.2815G>C (p.Gly939Arg) c.2260G>C (p.Gly754Arg) c.2707G>C (p.Gly903Arg) c.1141G>C (p.Gly381Arg) n.3125G>C n.3141G>C | |
2 | g.227054639C>T | CA350840067 | COL4A4 | c.2815G>A (p.Gly939Ser) c.2260G>A (p.Gly754Ser) c.2707G>A (p.Gly903Ser) c.1141G>A (p.Gly381Ser) n.3125G>A n.3141G>A | |
2 | g.227054640C>A | CA350840069 | COL4A4 | c.2814G>T (p.Lys938Asn) c.2259G>T (p.Lys753Asn) c.2706G>T (p.Lys902Asn) c.1140G>T (p.Lys380Asn) n.3124G>T n.3140G>T | |
2 | g.227054640C>G | CA350840070 | COL4A4 | c.2814G>C (p.Lys938Asn) c.2259G>C (p.Lys753Asn) c.2706G>C (p.Lys902Asn) c.1140G>C (p.Lys380Asn) n.3124G>C n.3140G>C | |
2 | g.227054640C>T | CA431499273 | COL4A4 | c.2814G>A (p.Lys938=) c.2259G>A (p.Lys753=) c.2706G>A (p.Lys902=) c.1140G>A (p.Lys380=) n.3124G>A n.3140G>A | |
2 | g.227054641T>A | CA350840072 | COL4A4 | c.2813A>T (p.Lys938Met) c.2258A>T (p.Lys753Met) c.2705A>T (p.Lys902Met) c.1139A>T (p.Lys380Met) n.3123A>T n.3139A>T | |
2 | g.227054641T>C | CA350840073 | COL4A4 | c.2813A>G (p.Lys938Arg) c.2258A>G (p.Lys753Arg) c.2705A>G (p.Lys902Arg) c.1139A>G (p.Lys380Arg) n.3123A>G n.3139A>G | gnomAD v4 |
2 | g.227054641T>G | CA350840074 | COL4A4 | c.2813A>C (p.Lys938Thr) c.2258A>C (p.Lys753Thr) c.2705A>C (p.Lys902Thr) c.1139A>C (p.Lys380Thr) n.3123A>C n.3139A>C | |
2 | g.227054642T>A | CA350840076 | COL4A4 | c.2812A>T (p.Lys938Ter) c.2257A>T (p.Lys753Ter) c.2704A>T (p.Lys902Ter) c.1138A>T (p.Lys380Ter) n.3122A>T n.3138A>T | |
2 | g.227054642T>C | CA350840078 | COL4A4 | c.2812A>G (p.Lys938Glu) c.2257A>G (p.Lys753Glu) c.2704A>G (p.Lys902Glu) c.1138A>G (p.Lys380Glu) n.3122A>G n.3138A>G | |
2 | g.227054642T>G | CA350840080 | COL4A4 | c.2812A>C (p.Lys938Gln) c.2257A>C (p.Lys753Gln) c.2704A>C (p.Lys902Gln) c.1138A>C (p.Lys380Gln) n.3122A>C n.3138A>C | |
2 | g.227054643C>A | CA350840082 | COL4A4 | c.2811G>T (p.Glu937Asp) c.2256G>T (p.Glu752Asp) c.2703G>T (p.Glu901Asp) c.1137G>T (p.Glu379Asp) n.3121G>T n.3137G>T | dbSNP |
2 | g.227054643C= | CA1332745697 | COL4A4 | c.2811G= (p.Glu937=) c.2256G= (p.Glu752=) c.2703G= (p.Glu901=) c.1137G= (p.Glu379=) n.3121G= n.3137G= | |
2 | g.227054643C>G | CA350840081 | COL4A4 | c.2811G>C (p.Glu937Asp) c.2256G>C (p.Glu752Asp) c.2703G>C (p.Glu901Asp) c.1137G>C (p.Glu379Asp) n.3121G>C n.3137G>C | gnomAD v4 |
2 | g.227054643C>T | CA2144710 | COL4A4 | c.2811G>A (p.Glu937=) c.2256G>A (p.Glu752=) c.2703G>A (p.Glu901=) c.1137G>A (p.Glu379=) n.3121G>A n.3137G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227054644T>A | CA350840084 | COL4A4 | c.2810A>T (p.Glu937Val) c.2255A>T (p.Glu752Val) c.2702A>T (p.Glu901Val) c.1136A>T (p.Glu379Val) n.3120A>T n.3136A>T | |
2 | g.227054644T>C | CA350840085 | COL4A4 | c.2810A>G (p.Glu937Gly) c.2255A>G (p.Glu752Gly) c.2702A>G (p.Glu901Gly) c.1136A>G (p.Glu379Gly) n.3120A>G n.3136A>G | |
2 | g.227054644T>G | CA350840088 | COL4A4 | c.2810A>C (p.Glu937Ala) c.2255A>C (p.Glu752Ala) c.2702A>C (p.Glu901Ala) c.1136A>C (p.Glu379Ala) n.3120A>C n.3136A>C | |
2 | g.227054645C>A | CA350840089 | COL4A4 | c.2809G>T (p.Glu937Ter) c.2254G>T (p.Glu752Ter) c.2701G>T (p.Glu901Ter) c.1135G>T (p.Glu379Ter) n.3119G>T n.3135G>T | |
2 | g.227054645C>G | CA350840090 | COL4A4 | c.2809G>C (p.Glu937Gln) c.2254G>C (p.Glu752Gln) c.2701G>C (p.Glu901Gln) c.1135G>C (p.Glu379Gln) n.3119G>C n.3135G>C | |
2 | g.227054645C>T | CA350840091 | COL4A4 | c.2809G>A (p.Glu937Lys) c.2254G>A (p.Glu752Lys) c.2701G>A (p.Glu901Lys) c.1135G>A (p.Glu379Lys) n.3119G>A n.3135G>A | COSMIC |
2 | g.227054646T>A | CA431499274 | COL4A4 | c.2808A>T (p.Gly936=) c.2253A>T (p.Gly751=) c.2700A>T (p.Gly900=) c.1134A>T (p.Gly378=) n.3118A>T n.3134A>T | |
2 | g.227054646T>C | CA431499275 | COL4A4 | c.2808A>G (p.Gly936=) c.2253A>G (p.Gly751=) c.2700A>G (p.Gly900=) c.1134A>G (p.Gly378=) n.3118A>G n.3134A>G | |
2 | g.227054646T>G | CA431499276 | COL4A4 | c.2808A>C (p.Gly936=) c.2253A>C (p.Gly751=) c.2700A>C (p.Gly900=) c.1134A>C (p.Gly378=) n.3118A>C n.3134A>C | |
2 | g.227054647C>A | CA350840092 | COL4A4 | c.2807G>T (p.Gly936Val) c.2252G>T (p.Gly751Val) c.2699G>T (p.Gly900Val) c.1133G>T (p.Gly378Val) n.3117G>T n.3133G>T | gnomAD v4 |
2 | g.227054647C>G | CA350840094 | COL4A4 | c.2807G>C (p.Gly936Ala) c.2252G>C (p.Gly751Ala) c.2699G>C (p.Gly900Ala) c.1133G>C (p.Gly378Ala) n.3117G>C n.3133G>C | gnomAD v4 |
2 | g.227054647C>T | CA350840093 | COL4A4 | c.2807G>A (p.Gly936Glu) c.2252G>A (p.Gly751Glu) c.2699G>A (p.Gly900Glu) c.1133G>A (p.Gly378Glu) n.3117G>A n.3133G>A | |
2 | g.227054648C>A | CA350840096 | COL4A4 | c.2806G>T (p.Gly936Ter) c.2251G>T (p.Gly751Ter) c.2698G>T (p.Gly900Ter) c.1132G>T (p.Gly378Ter) n.3116G>T n.3132G>T | |
2 | g.227054648C>G | CA350840098 | COL4A4 | c.2806G>C (p.Gly936Arg) c.2251G>C (p.Gly751Arg) c.2698G>C (p.Gly900Arg) c.1132G>C (p.Gly378Arg) n.3116G>C n.3132G>C | |
2 | g.227054648C>T | CA350840099 | COL4A4 | c.2806G>A (p.Gly936Arg) c.2251G>A (p.Gly751Arg) c.2698G>A (p.Gly900Arg) c.1132G>A (p.Gly378Arg) n.3116G>A n.3132G>A | |
2 | g.227054649A>C | CA431499279 | COL4A4 | c.2805T>G (p.Pro935=) c.2250T>G (p.Pro750=) c.2697T>G (p.Pro899=) c.1131T>G (p.Pro377=) n.3115T>G n.3131T>G | |
2 | g.227054649A>G | CA431499277 | COL4A4 | c.2805T>C (p.Pro935=) c.2250T>C (p.Pro750=) c.2697T>C (p.Pro899=) c.1131T>C (p.Pro377=) n.3115T>C n.3131T>C | gnomAD v4 |
2 | g.227054649A>T | CA431499278 | COL4A4 | c.2805T>A (p.Pro935=) c.2250T>A (p.Pro750=) c.2697T>A (p.Pro899=) c.1131T>A (p.Pro377=) n.3115T>A n.3131T>A | |
2 | g.227054650G>A | CA2144711 | COL4A4 | c.2804C>T (p.Pro935Leu) c.2249C>T (p.Pro750Leu) c.2696C>T (p.Pro899Leu) c.1130C>T (p.Pro377Leu) n.3114C>T n.3130C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054650G>C | CA350840101 | COL4A4 | c.2804C>G (p.Pro935Arg) c.2249C>G (p.Pro750Arg) c.2696C>G (p.Pro899Arg) c.1130C>G (p.Pro377Arg) n.3114C>G n.3130C>G | dbSNP |
2 | g.227054650G= | CA1332745698 | COL4A4 | c.2804C= (p.Pro935=) c.2249C= (p.Pro750=) c.2696C= (p.Pro899=) c.1130C= (p.Pro377=) n.3114C= n.3130C= | |
2 | g.227054650G>T | CA350840103 | COL4A4 | c.2804C>A (p.Pro935His) c.2249C>A (p.Pro750His) c.2696C>A (p.Pro899His) c.1130C>A (p.Pro377His) n.3114C>A n.3130C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054651G>A | CA350840105 | COL4A4 | c.2803C>T (p.Pro935Ser) c.2248C>T (p.Pro750Ser) c.2695C>T (p.Pro899Ser) c.1129C>T (p.Pro377Ser) n.3113C>T n.3129C>T | |
2 | g.227054651G>C | CA350840107 | COL4A4 | c.2803C>G (p.Pro935Ala) c.2248C>G (p.Pro750Ala) c.2695C>G (p.Pro899Ala) c.1129C>G (p.Pro377Ala) n.3113C>G n.3129C>G | |
2 | g.227054651G>T | CA350840109 | COL4A4 | c.2803C>A (p.Pro935Thr) c.2248C>A (p.Pro750Thr) c.2695C>A (p.Pro899Thr) c.1129C>A (p.Pro377Thr) n.3113C>A n.3129C>A | ClinVar gnomAD v4 |
2 | g.227054652T>A | CA350840110 | COL4A4 | c.2802A>T (p.Glu934Asp) c.2247A>T (p.Glu749Asp) c.2694A>T (p.Glu898Asp) c.1128A>T (p.Glu376Asp) n.3112A>T n.3128A>T | |
2 | g.227054652T>C | CA431499280 | COL4A4 | c.2802A>G (p.Glu934=) c.2247A>G (p.Glu749=) c.2694A>G (p.Glu898=) c.1128A>G (p.Glu376=) n.3112A>G n.3128A>G | ClinVar |
2 | g.227054652T>G | CA350840112 | COL4A4 | c.2802A>C (p.Glu934Asp) c.2247A>C (p.Glu749Asp) c.2694A>C (p.Glu898Asp) c.1128A>C (p.Glu376Asp) n.3112A>C n.3128A>C | |
2 | g.227054653T>A | CA350840113 | COL4A4 | c.2801A>T (p.Glu934Val) c.2246A>T (p.Glu749Val) c.2693A>T (p.Glu898Val) c.1127A>T (p.Glu376Val) n.3111A>T n.3127A>T | |
2 | g.227054653T>C | CA350840116 | COL4A4 | c.2801A>G (p.Glu934Gly) c.2246A>G (p.Glu749Gly) c.2693A>G (p.Glu898Gly) c.1127A>G (p.Glu376Gly) n.3111A>G n.3127A>G | |
2 | g.227054653T>G | CA350840115 | COL4A4 | c.2801A>C (p.Glu934Ala) c.2246A>C (p.Glu749Ala) c.2693A>C (p.Glu898Ala) c.1127A>C (p.Glu376Ala) n.3111A>C n.3127A>C | |
2 | g.227054654C>A | CA350840118 | COL4A4 | c.2800G>T (p.Glu934Ter) c.2245G>T (p.Glu749Ter) c.2692G>T (p.Glu898Ter) c.1126G>T (p.Glu376Ter) n.3110G>T n.3126G>T | |
2 | g.227054654C>G | CA350840120 | COL4A4 | c.2800G>C (p.Glu934Gln) c.2245G>C (p.Glu749Gln) c.2692G>C (p.Glu898Gln) c.1126G>C (p.Glu376Gln) n.3110G>C n.3126G>C | |
2 | g.227054654C>T | CA350840121 | COL4A4 | c.2800G>A (p.Glu934Lys) c.2245G>A (p.Glu749Lys) c.2692G>A (p.Glu898Lys) c.1126G>A (p.Glu376Lys) n.3110G>A n.3126G>A | |
2 | g.227054655T>A | CA431499282 | COL4A4 | c.2799A>T (p.Gly933=) c.2244A>T (p.Gly748=) c.2691A>T (p.Gly897=) c.1125A>T (p.Gly375=) n.3109A>T n.3125A>T | |
2 | g.227054655T>C | CA431499281 | COL4A4 | c.2799A>G (p.Gly933=) c.2244A>G (p.Gly748=) c.2691A>G (p.Gly897=) c.1125A>G (p.Gly375=) n.3109A>G n.3125A>G | |
2 | g.227054655T>G | CA431499283 | COL4A4 | c.2799A>C (p.Gly933=) c.2244A>C (p.Gly748=) c.2691A>C (p.Gly897=) c.1125A>C (p.Gly375=) n.3109A>C n.3125A>C | |
2 | g.227054660_227054677del | CA2580065867 | COL4A4 | c.2782_2799del (p.Cys928_Gly933del) c.2227_2244del (p.Cys743_Gly748del) c.2674_2691del (p.Cys892_Gly897del) c.1108_1125del (p.Cys370_Gly375del) n.3092_3109del n.3108_3125del | ClinVar |
2 | g.227054656C>A | CA350840123 | COL4A4 | c.2798G>T (p.Gly933Val) c.2243G>T (p.Gly748Val) c.2690G>T (p.Gly897Val) c.1124G>T (p.Gly375Val) n.3108G>T n.3124G>T | |
2 | g.227054656C= | CA1332745699 | COL4A4 | c.2798G= (p.Gly933=) c.2243G= (p.Gly748=) c.2690G= (p.Gly897=) c.1124G= (p.Gly375=) n.3108G= n.3124G= | |
2 | g.227054656C>G | CA350840125 | COL4A4 | c.2798G>C (p.Gly933Ala) c.2243G>C (p.Gly748Ala) c.2690G>C (p.Gly897Ala) c.1124G>C (p.Gly375Ala) n.3108G>C n.3124G>C | |
2 | g.227054656C>T | CA350840127 | COL4A4 | c.2798G>A (p.Gly933Glu) c.2243G>A (p.Gly748Glu) c.2690G>A (p.Gly897Glu) c.1124G>A (p.Gly375Glu) n.3108G>A n.3124G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227054657C>A | CA350840128 | COL4A4 | c.2797G>T (p.Gly933Ter) c.2242G>T (p.Gly748Ter) c.2689G>T (p.Gly897Ter) c.1123G>T (p.Gly375Ter) n.3107G>T n.3123G>T | |
2 | g.227054657C= | CA1332745700 | COL4A4 | c.2797G= (p.Gly933=) c.2242G= (p.Gly748=) c.2689G= (p.Gly897=) c.1123G= (p.Gly375=) n.3107G= n.3123G= | |
2 | g.227054657C>G | CA2144712 | COL4A4 | c.2797G>C (p.Gly933Arg) c.2242G>C (p.Gly748Arg) c.2689G>C (p.Gly897Arg) c.1123G>C (p.Gly375Arg) n.3107G>C n.3123G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227054657C>T | CA350840130 | COL4A4 | c.2797G>A (p.Gly933Arg) c.2242G>A (p.Gly748Arg) c.2689G>A (p.Gly897Arg) c.1123G>A (p.Gly375Arg) n.3107G>A n.3123G>A | COSMIC |
2 | g.227054658C>A | CA350840132 | COL4A4 | c.2796G>T (p.Lys932Asn) c.2241G>T (p.Lys747Asn) c.2688G>T (p.Lys896Asn) c.1122G>T (p.Lys374Asn) n.3106G>T n.3122G>T | |
2 | g.227054658C= | CA1332745701 | COL4A4 | c.2796G= (p.Lys932=) c.2241G= (p.Lys747=) c.2688G= (p.Lys896=) c.1122G= (p.Lys374=) n.3106G= n.3122G= | |
2 | g.227054658C>G | CA350840133 | COL4A4 | c.2796G>C (p.Lys932Asn) c.2241G>C (p.Lys747Asn) c.2688G>C (p.Lys896Asn) c.1122G>C (p.Lys374Asn) n.3106G>C n.3122G>C | |
2 | g.227054658C>T | CA2144713 | COL4A4 | c.2796G>A (p.Lys932=) c.2241G>A (p.Lys747=) c.2688G>A (p.Lys896=) c.1122G>A (p.Lys374=) n.3106G>A n.3122G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054658_227054659delinsCT | CA1332745702 | COL4A4 | c.2795_2796delinsAG (p.Lys932=) c.2240_2241delinsAG (p.Lys747=) c.2687_2688delinsAG (p.Lys896=) c.1121_1122delinsAG (p.Lys374=) n.3105_3106delinsAG n.3121_3122delinsAG | |
2 | g.227054659T>A | CA350840139 | COL4A4 | c.2795A>T (p.Lys932Met) c.2240A>T (p.Lys747Met) c.2687A>T (p.Lys896Met) c.1121A>T (p.Lys374Met) n.3105A>T n.3121A>T | |
2 | g.227054659T>C | CA350840134 | COL4A4 | c.2795A>G (p.Lys932Arg) c.2240A>G (p.Lys747Arg) c.2687A>G (p.Lys896Arg) c.1121A>G (p.Lys374Arg) n.3105A>G n.3121A>G | |
2 | g.227054659T>G | CA350840136 | COL4A4 | c.2795A>C (p.Lys932Thr) c.2240A>C (p.Lys747Thr) c.2687A>C (p.Lys896Thr) c.1121A>C (p.Lys374Thr) n.3105A>C n.3121A>C | |
2 | g.227054661del | CA1332745703 | COL4A4 | c.2795del (p.Lys932ArgfsTer18) c.2240del (p.Lys747ArgfsTer18) c.2687del (p.Lys896ArgfsTer18) c.1121del (p.Lys374ArgfsTer18) n.3105del n.3121del | dbSNP |
2 | g.227054660T>A | CA350840140 | COL4A4 | c.2794A>T (p.Lys932Ter) c.2239A>T (p.Lys747Ter) c.2686A>T (p.Lys896Ter) c.1120A>T (p.Lys374Ter) n.3104A>T n.3120A>T | ClinVar |
2 | g.227054660T>C | CA350840142 | COL4A4 | c.2794A>G (p.Lys932Glu) c.2239A>G (p.Lys747Glu) c.2686A>G (p.Lys896Glu) c.1120A>G (p.Lys374Glu) n.3104A>G n.3120A>G | |
2 | g.227054660T>G | CA350840144 | COL4A4 | c.2794A>C (p.Lys932Gln) c.2239A>C (p.Lys747Gln) c.2686A>C (p.Lys896Gln) c.1120A>C (p.Lys374Gln) n.3104A>C n.3120A>C | |
2 | g.227054660T= | CA1332745704 | COL4A4 | c.2794A= (p.Lys932=) c.2239A= (p.Lys747=) c.2686A= (p.Lys896=) c.1120A= (p.Lys374=) n.3104A= n.3120A= | |
2 | g.227054661T>A | CA431499284 | COL4A4 | c.2793A>T (p.Ala931=) c.2238A>T (p.Ala746=) c.2685A>T (p.Ala895=) c.1119A>T (p.Ala373=) n.3103A>T n.3119A>T | |
2 | g.227054661T>C | CA431499285 | COL4A4 | c.2793A>G (p.Ala931=) c.2238A>G (p.Ala746=) c.2685A>G (p.Ala895=) c.1119A>G (p.Ala373=) n.3103A>G n.3119A>G | |
2 | g.227054661T>G | CA431499286 | COL4A4 | c.2793A>C (p.Ala931=) c.2238A>C (p.Ala746=) c.2685A>C (p.Ala895=) c.1119A>C (p.Ala373=) n.3103A>C n.3119A>C | |
2 | g.227054664_227054681dup | CA539874945 | COL4A4 | c.2776_2793dup (p.Ala931_Lys932insGluGlyCysProGlyAla) c.2221_2238dup (p.Ala746_Lys747insGluGlyCysProGlyAla) c.2668_2685dup (p.Ala895_Lys896insGluGlyCysProGlyAla) c.1102_1119dup (p.Ala373_Lys374insGluGlyCysProGlyAla) n.3086_3103dup n.3102_3119dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054662G>A | CA66583872 | COL4A4 | c.2792C>T (p.Ala931Val) c.2237C>T (p.Ala746Val) c.2684C>T (p.Ala895Val) c.1118C>T (p.Ala373Val) n.3102C>T n.3118C>T | dbSNP |
2 | g.227054662G>C | CA350840147 | COL4A4 | c.2792C>G (p.Ala931Gly) c.2237C>G (p.Ala746Gly) c.2684C>G (p.Ala895Gly) c.1118C>G (p.Ala373Gly) n.3102C>G n.3118C>G | |
2 | g.227054662G= | CA1332745705 | COL4A4 | c.2792C= (p.Ala931=) c.2237C= (p.Ala746=) c.2684C= (p.Ala895=) c.1118C= (p.Ala373=) n.3102C= n.3118C= | |
2 | g.227054662G>T | CA350840148 | COL4A4 | c.2792C>A (p.Ala931Glu) c.2237C>A (p.Ala746Glu) c.2684C>A (p.Ala895Glu) c.1118C>A (p.Ala373Glu) n.3102C>A n.3118C>A | |
2 | g.227054663C>A | CA2144715 | COL4A4 | c.2791G>T (p.Ala931Ser) c.2236G>T (p.Ala746Ser) c.2683G>T (p.Ala895Ser) c.1117G>T (p.Ala373Ser) n.3101G>T n.3117G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227054663C= | CA1332745706 | COL4A4 | c.2791G= (p.Ala931=) c.2236G= (p.Ala746=) c.2683G= (p.Ala895=) c.1117G= (p.Ala373=) n.3101G= n.3117G= | |
2 | g.227054663C>G | CA350840153 | COL4A4 | c.2791G>C (p.Ala931Pro) c.2236G>C (p.Ala746Pro) c.2683G>C (p.Ala895Pro) c.1117G>C (p.Ala373Pro) n.3101G>C n.3117G>C | |
2 | g.227054663C>T | CA2144714 | COL4A4 | c.2791G>A (p.Ala931Thr) c.2236G>A (p.Ala746Thr) c.2683G>A (p.Ala895Thr) c.1117G>A (p.Ala373Thr) n.3101G>A n.3117G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054664G>A | CA2144716 | COL4A4 | c.2790C>T (p.Gly930=) c.2235C>T (p.Gly745=) c.2682C>T (p.Gly894=) c.1116C>T (p.Gly372=) n.3100C>T n.3116C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054664G>C | CA431499287 | COL4A4 | c.2790C>G (p.Gly930=) c.2235C>G (p.Gly745=) c.2682C>G (p.Gly894=) c.1116C>G (p.Gly372=) n.3100C>G n.3116C>G | |
2 | g.227054664G= | CA1332745707 | COL4A4 | c.2790C= (p.Gly930=) c.2235C= (p.Gly745=) c.2682C= (p.Gly894=) c.1116C= (p.Gly372=) n.3100C= n.3116C= | |
2 | g.227054664G>T | CA2144717 | COL4A4 | c.2790C>A (p.Gly930=) c.2235C>A (p.Gly745=) c.2682C>A (p.Gly894=) c.1116C>A (p.Gly372=) n.3100C>A n.3116C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054665C>A | CA350840160 | COL4A4 | c.2789G>T (p.Gly930Val) c.2234G>T (p.Gly745Val) c.2681G>T (p.Gly894Val) c.1115G>T (p.Gly372Val) n.3099G>T n.3115G>T | |
2 | g.227054665C>G | CA350840158 | COL4A4 | c.2789G>C (p.Gly930Ala) c.2234G>C (p.Gly745Ala) c.2681G>C (p.Gly894Ala) c.1115G>C (p.Gly372Ala) n.3099G>C n.3115G>C | |
2 | g.227054665C>T | CA350840157 | COL4A4 | c.2789G>A (p.Gly930Asp) c.2234G>A (p.Gly745Asp) c.2681G>A (p.Gly894Asp) c.1115G>A (p.Gly372Asp) n.3099G>A n.3115G>A | COSMIC |
2 | g.227054666C>A | CA350840161 | COL4A4 | c.2788G>T (p.Gly930Cys) c.2233G>T (p.Gly745Cys) c.2680G>T (p.Gly894Cys) c.1114G>T (p.Gly372Cys) n.3098G>T n.3114G>T | |
2 | g.227054666C= | CA1332745708 | COL4A4 | c.2788G= (p.Gly930=) c.2233G= (p.Gly745=) c.2680G= (p.Gly894=) c.1114G= (p.Gly372=) n.3098G= n.3114G= | |
2 | g.227054666C>G | CA350840164 | COL4A4 | c.2788G>C (p.Gly930Arg) c.2233G>C (p.Gly745Arg) c.2680G>C (p.Gly894Arg) c.1114G>C (p.Gly372Arg) n.3098G>C n.3114G>C | |
2 | g.227054666C>T | CA2144718 | COL4A4 | c.2788G>A (p.Gly930Ser) c.2233G>A (p.Gly745Ser) c.2680G>A (p.Gly894Ser) c.1114G>A (p.Gly372Ser) n.3098G>A n.3114G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054667A>C | CA431499288 | COL4A4 | c.2787T>G (p.Pro929=) c.2232T>G (p.Pro744=) c.2679T>G (p.Pro893=) c.1113T>G (p.Pro371=) n.3097T>G n.3113T>G | |
2 | g.227054667A>G | CA431499289 | COL4A4 | c.2787T>C (p.Pro929=) c.2232T>C (p.Pro744=) c.2679T>C (p.Pro893=) c.1113T>C (p.Pro371=) n.3097T>C n.3113T>C | ClinVar gnomAD v4 |
2 | g.227054667A>T | CA431499290 | COL4A4 | c.2787T>A (p.Pro929=) c.2232T>A (p.Pro744=) c.2679T>A (p.Pro893=) c.1113T>A (p.Pro371=) n.3097T>A n.3113T>A | |
2 | g.227054668G>A | CA350840166 | COL4A4 | c.2786C>T (p.Pro929Leu) c.2231C>T (p.Pro744Leu) c.2678C>T (p.Pro893Leu) c.1112C>T (p.Pro371Leu) n.3096C>T n.3112C>T | gnomAD v4 |
2 | g.227054668G>C | CA350840170 | COL4A4 | c.2786C>G (p.Pro929Arg) c.2231C>G (p.Pro744Arg) c.2678C>G (p.Pro893Arg) c.1112C>G (p.Pro371Arg) n.3096C>G n.3112C>G | |
2 | g.227054668G>T | CA350840167 | COL4A4 | c.2786C>A (p.Pro929His) c.2231C>A (p.Pro744His) c.2678C>A (p.Pro893His) c.1112C>A (p.Pro371His) n.3096C>A n.3112C>A | |
2 | g.227054669G>A | CA350840171 | COL4A4 | c.2785C>T (p.Pro929Ser) c.2230C>T (p.Pro744Ser) c.2677C>T (p.Pro893Ser) c.1111C>T (p.Pro371Ser) n.3095C>T n.3111C>T | COSMIC |
2 | g.227054669G>C | CA350840173 | COL4A4 | c.2785C>G (p.Pro929Ala) c.2230C>G (p.Pro744Ala) c.2677C>G (p.Pro893Ala) c.1111C>G (p.Pro371Ala) n.3095C>G n.3111C>G | gnomAD v4 |
2 | g.227054669G>T | CA350840174 | COL4A4 | c.2785C>A (p.Pro929Thr) c.2230C>A (p.Pro744Thr) c.2677C>A (p.Pro893Thr) c.1111C>A (p.Pro371Thr) n.3095C>A n.3111C>A | |
2 | g.227054670A>C | CA350840176 | COL4A4 | c.2784T>G (p.Cys928Trp) c.2229T>G (p.Cys743Trp) c.2676T>G (p.Cys892Trp) c.1110T>G (p.Cys370Trp) n.3094T>G n.3110T>G | |
2 | g.227054670A>G | CA431499291 | COL4A4 | c.2784T>C (p.Cys928=) c.2229T>C (p.Cys743=) c.2676T>C (p.Cys892=) c.1110T>C (p.Cys370=) n.3094T>C n.3110T>C | ClinVar |
2 | g.227054670A>T | CA350840178 | COL4A4 | c.2784T>A (p.Cys928Ter) c.2229T>A (p.Cys743Ter) c.2676T>A (p.Cys892Ter) c.1110T>A (p.Cys370Ter) n.3094T>A n.3110T>A | |
2 | g.227054671C>A | CA350840179 | COL4A4 | c.2783G>T (p.Cys928Phe) c.2228G>T (p.Cys743Phe) c.2675G>T (p.Cys892Phe) c.1109G>T (p.Cys370Phe) n.3093G>T n.3109G>T | COSMIC |
2 | g.227054671C>G | CA350840181 | COL4A4 | c.2783G>C (p.Cys928Ser) c.2228G>C (p.Cys743Ser) c.2675G>C (p.Cys892Ser) c.1109G>C (p.Cys370Ser) n.3093G>C n.3109G>C | |
2 | g.227054671C>T | CA350840182 | COL4A4 | c.2783G>A (p.Cys928Tyr) c.2228G>A (p.Cys743Tyr) c.2675G>A (p.Cys892Tyr) c.1109G>A (p.Cys370Tyr) n.3093G>A n.3109G>A | gnomAD v4 |
2 | g.227054672A= | CA1332745709 | COL4A4 | c.2782T= (p.Cys928=) c.2227T= (p.Cys743=) c.2674T= (p.Cys892=) c.1108T= (p.Cys370=) n.3092T= n.3108T= | |
2 | g.227054672A>C | CA350840184 | COL4A4 | c.2782T>G (p.Cys928Gly) c.2227T>G (p.Cys743Gly) c.2674T>G (p.Cys892Gly) c.1108T>G (p.Cys370Gly) n.3092T>G n.3108T>G | |
2 | g.227054672A>G | CA350840185 | COL4A4 | c.2782T>C (p.Cys928Arg) c.2227T>C (p.Cys743Arg) c.2674T>C (p.Cys892Arg) c.1108T>C (p.Cys370Arg) n.3092T>C n.3108T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227054672A>T | CA350840187 | COL4A4 | c.2782T>A (p.Cys928Ser) c.2227T>A (p.Cys743Ser) c.2674T>A (p.Cys892Ser) c.1108T>A (p.Cys370Ser) n.3092T>A n.3108T>A | |
2 | g.227054673T>A | CA431499292 | COL4A4 | c.2781A>T (p.Gly927=) c.2226A>T (p.Gly742=) c.2673A>T (p.Gly891=) c.1107A>T (p.Gly369=) n.3091A>T n.3107A>T | ClinVar dbSNP gnomAD v4 |
2 | g.227054673T>C | CA431499293 | COL4A4 | c.2781A>G (p.Gly927=) c.2226A>G (p.Gly742=) c.2673A>G (p.Gly891=) c.1107A>G (p.Gly369=) n.3091A>G n.3107A>G | ClinVar dbSNP gnomAD v4 |
2 | g.227054673T>G | CA431499294 | COL4A4 | c.2781A>C (p.Gly927=) c.2226A>C (p.Gly742=) c.2673A>C (p.Gly891=) c.1107A>C (p.Gly369=) n.3091A>C n.3107A>C | |
2 | g.227054673T= | CA1332745710 | COL4A4 | c.2781A= (p.Gly927=) c.2226A= (p.Gly742=) c.2673A= (p.Gly891=) c.1107A= (p.Gly369=) n.3091A= n.3107A= | |
2 | g.227054674C>A | CA350840195 | COL4A4 | c.2780G>T (p.Gly927Val) c.2225G>T (p.Gly742Val) c.2672G>T (p.Gly891Val) c.1106G>T (p.Gly369Val) n.3090G>T n.3106G>T | |
2 | g.227054674C>G | CA350840191 | COL4A4 | c.2780G>C (p.Gly927Ala) c.2225G>C (p.Gly742Ala) c.2672G>C (p.Gly891Ala) c.1106G>C (p.Gly369Ala) n.3090G>C n.3106G>C | |
2 | g.227054674C>T | CA350840189 | COL4A4 | c.2780G>A (p.Gly927Glu) c.2225G>A (p.Gly742Glu) c.2672G>A (p.Gly891Glu) c.1106G>A (p.Gly369Glu) n.3090G>A n.3106G>A | gnomAD v4 COSMIC |
2 | g.227054675C>A | CA350840197 | COL4A4 | c.2779G>T (p.Gly927Ter) c.2224G>T (p.Gly742Ter) c.2671G>T (p.Gly891Ter) c.1105G>T (p.Gly369Ter) n.3089G>T n.3105G>T | dbSNP COSMIC |
2 | g.227054675C= | CA1332745711 | COL4A4 | c.2779G= (p.Gly927=) c.2224G= (p.Gly742=) c.2671G= (p.Gly891=) c.1105G= (p.Gly369=) n.3089G= n.3105G= | |
2 | g.227054675C>G | CA350840198 | COL4A4 | c.2779G>C (p.Gly927Arg) c.2224G>C (p.Gly742Arg) c.2671G>C (p.Gly891Arg) c.1105G>C (p.Gly369Arg) n.3089G>C n.3105G>C | |
2 | g.227054675C>T | CA350840200 | COL4A4 | c.2779G>A (p.Gly927Arg) c.2224G>A (p.Gly742Arg) c.2671G>A (p.Gly891Arg) c.1105G>A (p.Gly369Arg) n.3089G>A n.3105G>A | dbSNP |
2 | g.227054676C>A | CA350840202 | COL4A4 | c.2778G>T (p.Glu926Asp) c.2223G>T (p.Glu741Asp) c.2670G>T (p.Glu890Asp) c.1104G>T (p.Glu368Asp) n.3088G>T n.3104G>T | |
2 | g.227054676C>G | CA350840204 | COL4A4 | c.2778G>C (p.Glu926Asp) c.2223G>C (p.Glu741Asp) c.2670G>C (p.Glu890Asp) c.1104G>C (p.Glu368Asp) n.3088G>C n.3104G>C | gnomAD v4 |
2 | g.227054676C>T | CA431499295 | COL4A4 | c.2778G>A (p.Glu926=) c.2223G>A (p.Glu741=) c.2670G>A (p.Glu890=) c.1104G>A (p.Glu368=) n.3088G>A n.3104G>A | |
2 | g.227054677T>A | CA350840205 | COL4A4 | c.2777A>T (p.Glu926Val) c.2222A>T (p.Glu741Val) c.2669A>T (p.Glu890Val) c.1103A>T (p.Glu368Val) n.3087A>T n.3103A>T | |
2 | g.227054677T>C | CA350840207 | COL4A4 | c.2777A>G (p.Glu926Gly) c.2222A>G (p.Glu741Gly) c.2669A>G (p.Glu890Gly) c.1103A>G (p.Glu368Gly) n.3087A>G n.3103A>G | ClinVar dbSNP gnomAD v4 |
2 | g.227054677T>G | CA350840208 | COL4A4 | c.2777A>C (p.Glu926Ala) c.2222A>C (p.Glu741Ala) c.2669A>C (p.Glu890Ala) c.1103A>C (p.Glu368Ala) n.3087A>C n.3103A>C | |
2 | g.227054677T= | CA1332745712 | COL4A4 | c.2777A= (p.Glu926=) c.2222A= (p.Glu741=) c.2669A= (p.Glu890=) c.1103A= (p.Glu368=) n.3087A= n.3103A= | |
2 | g.227054678C>A | CA350840210 | COL4A4 | c.2776G>T (p.Glu926Ter) c.2221G>T (p.Glu741Ter) c.2668G>T (p.Glu890Ter) c.1102G>T (p.Glu368Ter) n.3086G>T n.3102G>T | |
2 | g.227054678C= | CA1332745713 | COL4A4 | c.2776G= (p.Glu926=) c.2221G= (p.Glu741=) c.2668G= (p.Glu890=) c.1102G= (p.Glu368=) n.3086G= n.3102G= | |
2 | g.227054678C>G | CA350840212 | COL4A4 | c.2776G>C (p.Glu926Gln) c.2221G>C (p.Glu741Gln) c.2668G>C (p.Glu890Gln) c.1102G>C (p.Glu368Gln) n.3086G>C n.3102G>C | |
2 | g.227054678C>T | CA2144719 | COL4A4 | c.2776G>A (p.Glu926Lys) c.2221G>A (p.Glu741Lys) c.2668G>A (p.Glu890Lys) c.1102G>A (p.Glu368Lys) n.3086G>A n.3102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227054679T>A | CA431499296 | COL4A4 | c.2775A>T (p.Ala925=) c.2220A>T (p.Ala740=) c.2667A>T (p.Ala889=) c.1101A>T (p.Ala367=) n.3085A>T n.3101A>T | |
2 | g.227054679T>C | CA431499297 | COL4A4 | c.2775A>G (p.Ala925=) c.2220A>G (p.Ala740=) c.2667A>G (p.Ala889=) c.1101A>G (p.Ala367=) n.3085A>G n.3101A>G | gnomAD v4 |
2 | g.227054679T>G | CA431499298 | COL4A4 | c.2775A>C (p.Ala925=) c.2220A>C (p.Ala740=) c.2667A>C (p.Ala889=) c.1101A>C (p.Ala367=) n.3085A>C n.3101A>C | |
2 | g.227054680G>A | CA350840217 | COL4A4 | c.2774C>T (p.Ala925Val) c.2219C>T (p.Ala740Val) c.2666C>T (p.Ala889Val) c.1100C>T (p.Ala367Val) n.3084C>T n.3100C>T | |
2 | g.227054680G>C | CA350840215 | COL4A4 | c.2774C>G (p.Ala925Gly) c.2219C>G (p.Ala740Gly) c.2666C>G (p.Ala889Gly) c.1100C>G (p.Ala367Gly) n.3084C>G n.3100C>G | |
2 | g.227054680G>T | CA350840214 | COL4A4 | c.2774C>A (p.Ala925Glu) c.2219C>A (p.Ala740Glu) c.2666C>A (p.Ala889Glu) c.1100C>A (p.Ala367Glu) n.3084C>A n.3100C>A | |
2 | g.227054681C>A | CA350840219 | COL4A4 | c.2773G>T (p.Ala925Ser) c.2218G>T (p.Ala740Ser) c.2665G>T (p.Ala889Ser) c.1099G>T (p.Ala367Ser) n.3083G>T n.3099G>T | |
2 | g.227054681C>G | CA350840221 | COL4A4 | c.2773G>C (p.Ala925Pro) c.2218G>C (p.Ala740Pro) c.2665G>C (p.Ala889Pro) c.1099G>C (p.Ala367Pro) n.3083G>C n.3099G>C | |
2 | g.227054681C>T | CA350840223 | COL4A4 | c.2773G>A (p.Ala925Thr) c.2218G>A (p.Ala740Thr) c.2665G>A (p.Ala889Thr) c.1099G>A (p.Ala367Thr) n.3083G>A n.3099G>A | |
2 | g.227054682A>C | CA431499299 | COL4A4 | c.2772T>G (p.Gly924=) c.2217T>G (p.Gly739=) c.2664T>G (p.Gly888=) c.1098T>G (p.Gly366=) n.3082T>G n.3098T>G | |
2 | g.227054682A>G | CA431499300 | COL4A4 | c.2772T>C (p.Gly924=) c.2217T>C (p.Gly739=) c.2664T>C (p.Gly888=) c.1098T>C (p.Gly366=) n.3082T>C n.3098T>C | gnomAD v4 |
2 | g.227054682A>T | CA431499301 | COL4A4 | c.2772T>A (p.Gly924=) c.2217T>A (p.Gly739=) c.2664T>A (p.Gly888=) c.1098T>A (p.Gly366=) n.3082T>A n.3098T>A | |
2 | g.227054683C>A | CA350840224 | COL4A4 | c.2771G>T (p.Gly924Val) c.2216G>T (p.Gly739Val) c.2663G>T (p.Gly888Val) c.1097G>T (p.Gly366Val) n.3081G>T n.3097G>T | |
2 | g.227054683C= | CA1332745714 | COL4A4 | c.2771G= (p.Gly924=) c.2216G= (p.Gly739=) c.2663G= (p.Gly888=) c.1097G= (p.Gly366=) n.3081G= n.3097G= | |
2 | g.227054683C>G | CA350840225 | COL4A4 | c.2771G>C (p.Gly924Ala) c.2216G>C (p.Gly739Ala) c.2663G>C (p.Gly888Ala) c.1097G>C (p.Gly366Ala) n.3081G>C n.3097G>C | |
2 | g.227054683C>T | CA350840226 | COL4A4 | c.2771G>A (p.Gly924Asp) c.2216G>A (p.Gly739Asp) c.2663G>A (p.Gly888Asp) c.1097G>A (p.Gly366Asp) n.3081G>A n.3097G>A | dbSNP gnomAD v4 |
2 | g.227054684dup | CA2663407866 | COL4A4 | c.2771dup (p.Ala925CysfsTer?) c.2216dup (p.Ala740CysfsTer?) c.2663dup (p.Ala889CysfsTer?) c.1097dup (p.Ala367CysfsTer?) n.3081dup n.3097dup | gnomAD v4 |
2 | g.227054684C>A | CA350840228 | COL4A4 | c.2770G>T (p.Gly924Cys) c.2215G>T (p.Gly739Cys) c.2662G>T (p.Gly888Cys) c.1096G>T (p.Gly366Cys) n.3080G>T n.3096G>T | |
2 | g.227054684C>G | CA350840230 | COL4A4 | c.2770G>C (p.Gly924Arg) c.2215G>C (p.Gly739Arg) c.2662G>C (p.Gly888Arg) c.1096G>C (p.Gly366Arg) n.3080G>C n.3096G>C | |
2 | g.227054684C>T | CA350840231 | COL4A4 | c.2770G>A (p.Gly924Ser) c.2215G>A (p.Gly739Ser) c.2662G>A (p.Gly888Ser) c.1096G>A (p.Gly366Ser) n.3080G>A n.3096G>A | |
2 | g.227054685A>C | CA431499302 | COL4A4 | c.2769T>G (p.Pro923=) c.2214T>G (p.Pro738=) c.2661T>G (p.Pro887=) c.1095T>G (p.Pro365=) n.3079T>G n.3095T>G | |
2 | g.227054685A>G | CA431499303 | COL4A4 | c.2769T>C (p.Pro923=) c.2214T>C (p.Pro738=) c.2661T>C (p.Pro887=) c.1095T>C (p.Pro365=) n.3079T>C n.3095T>C | |
2 | g.227054685A>T | CA431499304 | COL4A4 | c.2769T>A (p.Pro923=) c.2214T>A (p.Pro738=) c.2661T>A (p.Pro887=) c.1095T>A (p.Pro365=) n.3079T>A n.3095T>A | |
2 | g.227054686G>A | CA350840233 | COL4A4 | c.2768C>T (p.Pro923Leu) c.2213C>T (p.Pro738Leu) c.2660C>T (p.Pro887Leu) c.1094C>T (p.Pro365Leu) n.3078C>T n.3094C>T | dbSNP |
2 | g.227054686G>C | CA350840235 | COL4A4 | c.2768C>G (p.Pro923Arg) c.2213C>G (p.Pro738Arg) c.2660C>G (p.Pro887Arg) c.1094C>G (p.Pro365Arg) n.3078C>G n.3094C>G | |
2 | g.227054686G= | CA1332745715 | COL4A4 | c.2768C= (p.Pro923=) c.2213C= (p.Pro738=) c.2660C= (p.Pro887=) c.1094C= (p.Pro365=) n.3078C= n.3094C= | |
2 | g.227054686G>T | CA350840236 | COL4A4 | c.2768C>A (p.Pro923His) c.2213C>A (p.Pro738His) c.2660C>A (p.Pro887His) c.1094C>A (p.Pro365His) n.3078C>A n.3094C>A | |
2 | g.227054687G>A | CA350840241 | COL4A4 | c.2767C>T (p.Pro923Ser) c.2212C>T (p.Pro738Ser) c.2659C>T (p.Pro887Ser) c.1093C>T (p.Pro365Ser) n.3077C>T n.3093C>T | gnomAD v4 |
2 | g.227054687G>C | CA350840239 | COL4A4 | c.2767C>G (p.Pro923Ala) c.2212C>G (p.Pro738Ala) c.2659C>G (p.Pro887Ala) c.1093C>G (p.Pro365Ala) n.3077C>G n.3093C>G | |
2 | g.227054687G>T | CA350840238 | COL4A4 | c.2767C>A (p.Pro923Thr) c.2212C>A (p.Pro738Thr) c.2659C>A (p.Pro887Thr) c.1093C>A (p.Pro365Thr) n.3077C>A n.3093C>A | |
2 | g.227054688C>A | CA350840242 | COL4A4 | c.2766G>T (p.Lys922Asn) c.2211G>T (p.Lys737Asn) c.2658G>T (p.Lys886Asn) c.1092G>T (p.Lys364Asn) n.3076G>T n.3092G>T | |
2 | g.227054688C= | CA1332745716 | COL4A4 | c.2766G= (p.Lys922=) c.2211G= (p.Lys737=) c.2658G= (p.Lys886=) c.1092G= (p.Lys364=) n.3076G= n.3092G= | |
2 | g.227054688C>G | CA350840243 | COL4A4 | c.2766G>C (p.Lys922Asn) c.2211G>C (p.Lys737Asn) c.2658G>C (p.Lys886Asn) c.1092G>C (p.Lys364Asn) n.3076G>C n.3092G>C | ClinVar dbSNP |
2 | g.227054688C>T | CA2144720 | COL4A4 | c.2766G>A (p.Lys922=) c.2211G>A (p.Lys737=) c.2658G>A (p.Lys886=) c.1092G>A (p.Lys364=) n.3076G>A n.3092G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227054688_227054689delinsCT | CA1332745717 | COL4A4 | c.2765_2766delinsAG (p.Lys922=) c.2210_2211delinsAG (p.Lys737=) c.2657_2658delinsAG (p.Lys886=) c.1091_1092delinsAG (p.Lys364=) n.3075_3076delinsAG n.3091_3092delinsAG | |
2 | g.227054689T>A | CA350840245 | COL4A4 | c.2765A>T (p.Lys922Met) c.2210A>T (p.Lys737Met) c.2657A>T (p.Lys886Met) c.1091A>T (p.Lys364Met) n.3075A>T n.3091A>T | |
2 | g.227054689T>C | CA350840247 | COL4A4 | c.2765A>G (p.Lys922Arg) c.2210A>G (p.Lys737Arg) c.2657A>G (p.Lys886Arg) c.1091A>G (p.Lys364Arg) n.3075A>G n.3091A>G | gnomAD v4 |
2 | g.227054689T>G | CA350840248 | COL4A4 | c.2765A>C (p.Lys922Thr) c.2210A>C (p.Lys737Thr) c.2657A>C (p.Lys886Thr) c.1091A>C (p.Lys364Thr) n.3075A>C n.3091A>C | |
2 | g.227054691del | CA765667281 | COL4A4 | c.2765del (p.Lys922SerfsTer28) c.2210del (p.Lys737SerfsTer28) c.2657del (p.Lys886SerfsTer28) c.1091del (p.Lys364SerfsTer28) n.3075del n.3091del | dbSNP |