Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.45504419dup | CA10067439 | COL18A1,SLC19A1 | c.3271dup c.2731dup c.772dup c.3976dup c.498-5803dup c.1294-5803dup (n.1294-5803dup) c.1585-1446dup (n.1585-1446dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504419del | CA645607891 | COL18A1,SLC19A1 | c.3271del c.2731del c.772del c.3976del c.498-5803del c.1294-5803del (n.1294-5803del) c.1585-1446del (n.1585-1446del) | gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.45504416G>A | CA10067440 | COL18A1,SLC19A1 | c.3268G>A (p.Gly1090Arg) c.2728G>A (p.Gly910Arg) c.769G>A (p.Gly257Arg) c.3973G>A (p.Gly1325Arg) c.498-5804C>T c.1294-5804C>T (n.1294-5804C>T) c.1585-1447C>T (n.1585-1447C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504416G>C | CA10067441 | COL18A1,SLC19A1 | c.3268G>C (p.Gly1090Arg) c.2728G>C (p.Gly910Arg) c.769G>C (p.Gly257Arg) c.3973G>C (p.Gly1325Arg) c.498-5804C>G c.1294-5804C>G (n.1294-5804C>G) c.1585-1447C>G (n.1585-1447C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504416G= | CA2392190659 | COL18A1,SLC19A1 | c.3268G= (p.Gly1090=) c.2728G= (p.Gly910=) c.769G= (p.Gly257=) c.3973G= (p.Gly1325=) c.498-5804C= c.1294-5804C= (n.1294-5804C=) c.1585-1447C= (n.1585-1447C=) | |
21 | g.45504416G>T | CA410499093 | COL18A1,SLC19A1 | c.3268G>T (p.Gly1090Trp) c.2728G>T (p.Gly910Trp) c.769G>T (p.Gly257Trp) c.3973G>T (p.Gly1325Trp) c.498-5804C>A c.1294-5804C>A (n.1294-5804C>A) c.1585-1447C>A (n.1585-1447C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504417G>A | CA10067442 | COL18A1,SLC19A1 | c.3269G>A (p.Gly1090Glu) c.2729G>A (p.Gly910Glu) c.770G>A (p.Gly257Glu) c.3974G>A (p.Gly1325Glu) c.498-5805C>T c.1294-5805C>T (n.1294-5805C>T) c.1585-1448C>T (n.1585-1448C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504417G>C | CA410499094 | COL18A1,SLC19A1 | c.3269G>C (p.Gly1090Ala) c.2729G>C (p.Gly910Ala) c.770G>C (p.Gly257Ala) c.3974G>C (p.Gly1325Ala) c.498-5805C>G c.1294-5805C>G (n.1294-5805C>G) c.1585-1448C>G (n.1585-1448C>G) | |
21 | g.45504417G= | CA2392190660 | COL18A1,SLC19A1 | c.3269G= (p.Gly1090=) c.2729G= (p.Gly910=) c.770G= (p.Gly257=) c.3974G= (p.Gly1325=) c.498-5805C= c.1294-5805C= (n.1294-5805C=) c.1585-1448C= (n.1585-1448C=) | |
21 | g.45504417G>T | CA410499095 | COL18A1,SLC19A1 | c.3269G>T (p.Gly1090Val) c.2729G>T (p.Gly910Val) c.770G>T (p.Gly257Val) c.3974G>T (p.Gly1325Val) c.498-5805C>A c.1294-5805C>A (n.1294-5805C>A) c.1585-1448C>A (n.1585-1448C>A) | |
21 | g.45504418G>A | CA512687110 | COL18A1,SLC19A1 | c.3270G>A (p.Gly1090=) c.2730G>A (p.Gly910=) c.771G>A (p.Gly257=) c.3975G>A (p.Gly1325=) c.498-5806C>T c.1294-5806C>T (n.1294-5806C>T) c.1585-1449C>T (n.1585-1449C>T) | gnomAD v4 |
21 | g.45504418G>C | CA512687111 | COL18A1,SLC19A1 | c.3270G>C (p.Gly1090=) c.2730G>C (p.Gly910=) c.771G>C (p.Gly257=) c.3975G>C (p.Gly1325=) c.498-5806C>G c.1294-5806C>G (n.1294-5806C>G) c.1585-1449C>G (n.1585-1449C>G) | |
21 | g.45504418G>T | CA512687112 | COL18A1,SLC19A1 | c.3270G>T (p.Gly1090=) c.2730G>T (p.Gly910=) c.771G>T (p.Gly257=) c.3975G>T (p.Gly1325=) c.498-5806C>A c.1294-5806C>A (n.1294-5806C>A) c.1585-1449C>A (n.1585-1449C>A) | |
21 | g.45504419_45504421del | CA2654917809 | COL18A1,SLC19A1 | c.3271_3273del (p.Glu1091del) c.2731_2733del (p.Glu911del) c.772_774del (p.Glu258del) c.3976_3978del (p.Glu1326del) c.498-5808_498-5806del c.1294-5808_1294-5806del (n.1294-5808_1294-5806del) c.1585-1451_1585-1449del (n.1585-1451_1585-1449del) | gnomAD v4 |
21 | g.45504419G>A | CA321921208 | COL18A1,SLC19A1 | c.3271G>A (p.Glu1091Lys) c.2731G>A (p.Glu911Lys) c.772G>A (p.Glu258Lys) c.3976G>A (p.Glu1326Lys) c.498-5807C>T c.1294-5807C>T (n.1294-5807C>T) c.1585-1450C>T (n.1585-1450C>T) | dbSNP |
21 | g.45504419G>C | CA410499096 | COL18A1,SLC19A1 | c.3271G>C (p.Glu1091Gln) c.2731G>C (p.Glu911Gln) c.772G>C (p.Glu258Gln) c.3976G>C (p.Glu1326Gln) c.498-5807C>G c.1294-5807C>G (n.1294-5807C>G) c.1585-1450C>G (n.1585-1450C>G) | gnomAD v4 |
21 | g.45504419G= | CA2392190661 | COL18A1,SLC19A1 | c.3271G= (p.Glu1091=) c.2731G= (p.Glu911=) c.772G= (p.Glu258=) c.3976G= (p.Glu1326=) c.498-5807C= c.1294-5807C= (n.1294-5807C=) c.1585-1450C= (n.1585-1450C=) | |
21 | g.45504419G>T | CA410499097 | COL18A1,SLC19A1 | c.3271G>T (p.Glu1091Ter) c.2731G>T (p.Glu911Ter) c.772G>T (p.Glu258Ter) c.3976G>T (p.Glu1326Ter) c.498-5807C>A c.1294-5807C>A (n.1294-5807C>A) c.1585-1450C>A (n.1585-1450C>A) | |
21 | g.45504420A>C | CA410499098 | COL18A1,SLC19A1 | c.3272A>C (p.Glu1091Ala) c.2732A>C (p.Glu911Ala) c.773A>C (p.Glu258Ala) c.3977A>C (p.Glu1326Ala) c.498-5808T>G c.1294-5808T>G (n.1294-5808T>G) c.1585-1451T>G (n.1585-1451T>G) | |
21 | g.45504420A>G | CA410499099 | COL18A1,SLC19A1 | c.3272A>G (p.Glu1091Gly) c.2732A>G (p.Glu911Gly) c.773A>G (p.Glu258Gly) c.3977A>G (p.Glu1326Gly) c.498-5808T>C c.1294-5808T>C (n.1294-5808T>C) c.1585-1451T>C (n.1585-1451T>C) | |
21 | g.45504420A>T | CA410499100 | COL18A1,SLC19A1 | c.3272A>T (p.Glu1091Val) c.2732A>T (p.Glu911Val) c.773A>T (p.Glu258Val) c.3977A>T (p.Glu1326Val) c.498-5808T>A c.1294-5808T>A (n.1294-5808T>A) c.1585-1451T>A (n.1585-1451T>A) | |
21 | g.45504421del | CA2818083963 | COL18A1,SLC19A1 | c.3273del (p.Lys1092ArgfsTer?) c.2733del (p.Lys912ArgfsTer?) c.774del (p.Lys259ArgfsTer?) c.3978del (p.Lys1327ArgfsTer?) c.498-5809del c.1294-5809del (n.1294-5809del) c.1585-1452del (n.1585-1452del) | |
21 | g.45504421G>A | CA512687113 | COL18A1,SLC19A1 | c.3273G>A (p.Glu1091=) c.2733G>A (p.Glu911=) c.774G>A (p.Glu258=) c.3978G>A (p.Glu1326=) c.498-5809C>T c.1294-5809C>T (n.1294-5809C>T) c.1585-1452C>T (n.1585-1452C>T) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504421G>C | CA410499101 | COL18A1,SLC19A1 | c.3273G>C (p.Glu1091Asp) c.2733G>C (p.Glu911Asp) c.774G>C (p.Glu258Asp) c.3978G>C (p.Glu1326Asp) c.498-5809C>G c.1294-5809C>G (n.1294-5809C>G) c.1585-1452C>G (n.1585-1452C>G) | |
21 | g.45504421G= | CA2392190662 | COL18A1,SLC19A1 | c.3273G= (p.Glu1091=) c.2733G= (p.Glu911=) c.774G= (p.Glu258=) c.3978G= (p.Glu1326=) c.498-5809C= c.1294-5809C= (n.1294-5809C=) c.1585-1452C= (n.1585-1452C=) | |
21 | g.45504421G>T | CA410499102 | COL18A1,SLC19A1 | c.3273G>T (p.Glu1091Asp) c.2733G>T (p.Glu911Asp) c.774G>T (p.Glu258Asp) c.3978G>T (p.Glu1326Asp) c.498-5809C>A c.1294-5809C>A (n.1294-5809C>A) c.1585-1452C>A (n.1585-1452C>A) | gnomAD v4 |
21 | g.45504422A>C | CA410499103 | COL18A1,SLC19A1 | c.3274A>C (p.Lys1092Gln) c.2734A>C (p.Lys912Gln) c.775A>C (p.Lys259Gln) c.3979A>C (p.Lys1327Gln) c.498-5810T>G c.1294-5810T>G (n.1294-5810T>G) c.1585-1453T>G (n.1585-1453T>G) | |
21 | g.45504422A>G | CA410499105 | COL18A1,SLC19A1 | c.3274A>G (p.Lys1092Glu) c.2734A>G (p.Lys912Glu) c.775A>G (p.Lys259Glu) c.3979A>G (p.Lys1327Glu) c.498-5810T>C c.1294-5810T>C (n.1294-5810T>C) c.1585-1453T>C (n.1585-1453T>C) | |
21 | g.45504422A>T | CA410499104 | COL18A1,SLC19A1 | c.3274A>T (p.Lys1092Ter) c.2734A>T (p.Lys912Ter) c.775A>T (p.Lys259Ter) c.3979A>T (p.Lys1327Ter) c.498-5810T>A c.1294-5810T>A (n.1294-5810T>A) c.1585-1453T>A (n.1585-1453T>A) | |
21 | g.45504423A= | CA2392190663 | COL18A1,SLC19A1 | c.3275A= (p.Lys1092=) c.2735A= (p.Lys912=) c.776A= (p.Lys259=) c.3980A= (p.Lys1327=) c.498-5811T= c.1294-5811T= (n.1294-5811T=) c.1585-1454T= (n.1585-1454T=) | |
21 | g.45504423A>C | CA410499106 | COL18A1,SLC19A1 | c.3275A>C (p.Lys1092Thr) c.2735A>C (p.Lys912Thr) c.776A>C (p.Lys259Thr) c.3980A>C (p.Lys1327Thr) c.498-5811T>G c.1294-5811T>G (n.1294-5811T>G) c.1585-1454T>G (n.1585-1454T>G) | |
21 | g.45504423A>G | CA321921209 | COL18A1,SLC19A1 | c.3275A>G (p.Lys1092Arg) c.2735A>G (p.Lys912Arg) c.776A>G (p.Lys259Arg) c.3980A>G (p.Lys1327Arg) c.498-5811T>C c.1294-5811T>C (n.1294-5811T>C) c.1585-1454T>C (n.1585-1454T>C) | dbSNP gnomAD v4 |
21 | g.45504423A>T | CA410499107 | COL18A1,SLC19A1 | c.3275A>T (p.Lys1092Met) c.2735A>T (p.Lys912Met) c.776A>T (p.Lys259Met) c.3980A>T (p.Lys1327Met) c.498-5811T>A c.1294-5811T>A (n.1294-5811T>A) c.1585-1454T>A (n.1585-1454T>A) | |
21 | g.45504424G>A | CA512687114 | COL18A1,SLC19A1 | c.3276G>A (p.Lys1092=) c.2736G>A (p.Lys912=) c.777G>A (p.Lys259=) c.3981G>A (p.Lys1327=) c.498-5812C>T c.1294-5812C>T (n.1294-5812C>T) c.1585-1455C>T (n.1585-1455C>T) | |
21 | g.45504424G>C | CA10067443 | COL18A1,SLC19A1 | c.3276G>C (p.Lys1092Asn) c.2736G>C (p.Lys912Asn) c.777G>C (p.Lys259Asn) c.3981G>C (p.Lys1327Asn) c.498-5812C>G c.1294-5812C>G (n.1294-5812C>G) c.1585-1455C>G (n.1585-1455C>G) | dbSNP ExAC |
21 | g.45504424G= | CA2392190664 | COL18A1,SLC19A1 | c.3276G= (p.Lys1092=) c.2736G= (p.Lys912=) c.777G= (p.Lys259=) c.3981G= (p.Lys1327=) c.498-5812C= c.1294-5812C= (n.1294-5812C=) c.1585-1455C= (n.1585-1455C=) | |
21 | g.45504424G>T | CA410499108 | COL18A1,SLC19A1 | c.3276G>T (p.Lys1092Asn) c.2736G>T (p.Lys912Asn) c.777G>T (p.Lys259Asn) c.3981G>T (p.Lys1327Asn) c.498-5812C>A c.1294-5812C>A (n.1294-5812C>A) c.1585-1455C>A (n.1585-1455C>A) | |
21 | g.45504425G>A | CA410499109 | COL18A1,SLC19A1 | c.3277G>A (p.Gly1093Arg) c.2737G>A (p.Gly913Arg) c.778G>A (p.Gly260Arg) c.3982G>A (p.Gly1328Arg) c.498-5813C>T c.1294-5813C>T (n.1294-5813C>T) c.1585-1456C>T (n.1585-1456C>T) | |
21 | g.45504425G>C | CA410499110 | COL18A1,SLC19A1 | c.3277G>C (p.Gly1093Arg) c.2737G>C (p.Gly913Arg) c.778G>C (p.Gly260Arg) c.3982G>C (p.Gly1328Arg) c.498-5813C>G c.1294-5813C>G (n.1294-5813C>G) c.1585-1456C>G (n.1585-1456C>G) | |
21 | g.45504425G>T | CA410499111 | COL18A1,SLC19A1 | c.3277G>T (p.Gly1093Ter) c.2737G>T (p.Gly913Ter) c.778G>T (p.Gly260Ter) c.3982G>T (p.Gly1328Ter) c.498-5813C>A c.1294-5813C>A (n.1294-5813C>A) c.1585-1456C>A (n.1585-1456C>A) | |
21 | g.45504426G>A | CA410499112 | COL18A1,SLC19A1 | c.3278G>A (p.Gly1093Glu) c.2738G>A (p.Gly913Glu) c.779G>A (p.Gly260Glu) c.3983G>A (p.Gly1328Glu) c.498-5814C>T c.1294-5814C>T (n.1294-5814C>T) c.1585-1457C>T (n.1585-1457C>T) | gnomAD v4 |
21 | g.45504426G>C | CA410499113 | COL18A1,SLC19A1 | c.3278G>C (p.Gly1093Ala) c.2738G>C (p.Gly913Ala) c.779G>C (p.Gly260Ala) c.3983G>C (p.Gly1328Ala) c.498-5814C>G c.1294-5814C>G (n.1294-5814C>G) c.1585-1457C>G (n.1585-1457C>G) | |
21 | g.45504426G>T | CA410499114 | COL18A1,SLC19A1 | c.3278G>T (p.Gly1093Val) c.2738G>T (p.Gly913Val) c.779G>T (p.Gly260Val) c.3983G>T (p.Gly1328Val) c.498-5814C>A c.1294-5814C>A (n.1294-5814C>A) c.1585-1457C>A (n.1585-1457C>A) | |
21 | g.45504427A>C | CA512687117 | COL18A1,SLC19A1 | c.3279A>C (p.Gly1093=) c.2739A>C (p.Gly913=) c.780A>C (p.Gly260=) c.3984A>C (p.Gly1328=) c.498-5815T>G c.1294-5815T>G (n.1294-5815T>G) c.1585-1458T>G (n.1585-1458T>G) | |
21 | g.45504427A>G | CA512687115 | COL18A1,SLC19A1 | c.3279A>G (p.Gly1093=) c.2739A>G (p.Gly913=) c.780A>G (p.Gly260=) c.3984A>G (p.Gly1328=) c.498-5815T>C c.1294-5815T>C (n.1294-5815T>C) c.1585-1458T>C (n.1585-1458T>C) | |
21 | g.45504427A>T | CA512687116 | COL18A1,SLC19A1 | c.3279A>T (p.Gly1093=) c.2739A>T (p.Gly913=) c.780A>T (p.Gly260=) c.3984A>T (p.Gly1328=) c.498-5815T>A c.1294-5815T>A (n.1294-5815T>A) c.1585-1458T>A (n.1585-1458T>A) | |
21 | g.45504428G>A | CA321921210 | COL18A1,SLC19A1 | c.3280G>A (p.Asp1094Asn) c.2740G>A (p.Asp914Asn) c.781G>A (p.Asp261Asn) c.3985G>A (p.Asp1329Asn) c.498-5816C>T c.1294-5816C>T (n.1294-5816C>T) c.1585-1459C>T (n.1585-1459C>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504428G>C | CA410499116 | COL18A1,SLC19A1 | c.3280G>C (p.Asp1094His) c.2740G>C (p.Asp914His) c.781G>C (p.Asp261His) c.3985G>C (p.Asp1329His) c.498-5816C>G c.1294-5816C>G (n.1294-5816C>G) c.1585-1459C>G (n.1585-1459C>G) | |
21 | g.45504428G= | CA2392190665 | COL18A1,SLC19A1 | c.3280G= (p.Asp1094=) c.2740G= (p.Asp914=) c.781G= (p.Asp261=) c.3985G= (p.Asp1329=) c.498-5816C= c.1294-5816C= (n.1294-5816C=) c.1585-1459C= (n.1585-1459C=) | |
21 | g.45504428G>T | CA410499115 | COL18A1,SLC19A1 | c.3280G>T (p.Asp1094Tyr) c.2740G>T (p.Asp914Tyr) c.781G>T (p.Asp261Tyr) c.3985G>T (p.Asp1329Tyr) c.498-5816C>A c.1294-5816C>A (n.1294-5816C>A) c.1585-1459C>A (n.1585-1459C>A) | COSMIC COSMIC |
21 | g.45504429A>C | CA410499117 | COL18A1,SLC19A1 | c.3281A>C (p.Asp1094Ala) c.2741A>C (p.Asp914Ala) c.782A>C (p.Asp261Ala) c.3986A>C (p.Asp1329Ala) c.498-5817T>G c.1294-5817T>G (n.1294-5817T>G) c.1585-1460T>G (n.1585-1460T>G) | dbSNP |
21 | g.45504429A>G | CA410499119 | COL18A1,SLC19A1 | c.3281A>G (p.Asp1094Gly) c.2741A>G (p.Asp914Gly) c.782A>G (p.Asp261Gly) c.3986A>G (p.Asp1329Gly) c.498-5817T>C c.1294-5817T>C (n.1294-5817T>C) c.1585-1460T>C (n.1585-1460T>C) | gnomAD v4 |
21 | g.45504429A>T | CA410499118 | COL18A1,SLC19A1 | c.3281A>T (p.Asp1094Val) c.2741A>T (p.Asp914Val) c.782A>T (p.Asp261Val) c.3986A>T (p.Asp1329Val) c.498-5817T>A c.1294-5817T>A (n.1294-5817T>A) c.1585-1460T>A (n.1585-1460T>A) | |
21 | g.45504430C>A | CA410499120 | COL18A1,SLC19A1 | c.3282C>A (p.Asp1094Glu) c.2742C>A (p.Asp914Glu) c.783C>A (p.Asp261Glu) c.3987C>A (p.Asp1329Glu) c.498-5818G>T c.1294-5818G>T (n.1294-5818G>T) c.1585-1461G>T (n.1585-1461G>T) | gnomAD v4 |
21 | g.45504430C>G | CA410499121 | COL18A1,SLC19A1 | c.3282C>G (p.Asp1094Glu) c.2742C>G (p.Asp914Glu) c.783C>G (p.Asp261Glu) c.3987C>G (p.Asp1329Glu) c.498-5818G>C c.1294-5818G>C (n.1294-5818G>C) c.1585-1461G>C (n.1585-1461G>C) | |
21 | g.45504430C>T | CA512687118 | COL18A1,SLC19A1 | c.3282C>T (p.Asp1094=) c.2742C>T (p.Asp914=) c.783C>T (p.Asp261=) c.3987C>T (p.Asp1329=) c.498-5818G>A c.1294-5818G>A (n.1294-5818G>A) c.1585-1461G>A (n.1585-1461G>A) | |
21 | g.45504431C>A | CA512687119 | COL18A1,SLC19A1 | c.3283C>A (p.Arg1095=) c.2743C>A (p.Arg915=) c.784C>A (p.Arg262=) c.3988C>A (p.Arg1330=) c.498-5819G>T c.1294-5819G>T (n.1294-5819G>T) c.1585-1462G>T (n.1585-1462G>T) | |
21 | g.45504431C= | CA2392190666 | COL18A1,SLC19A1 | c.3283C= (p.Arg1095=) c.2743C= (p.Arg915=) c.784C= (p.Arg262=) c.3988C= (p.Arg1330=) c.498-5819G= c.1294-5819G= (n.1294-5819G=) c.1585-1462G= (n.1585-1462G=) | |
21 | g.45504431C>G | CA410499122 | COL18A1,SLC19A1 | c.3283C>G (p.Arg1095Gly) c.2743C>G (p.Arg915Gly) c.784C>G (p.Arg262Gly) c.3988C>G (p.Arg1330Gly) c.498-5819G>C c.1294-5819G>C (n.1294-5819G>C) c.1585-1462G>C (n.1585-1462G>C) | |
21 | g.45504431C>T | CA236429 | COL18A1,SLC19A1 | c.3283C>T (p.Arg1095Ter) c.2743C>T (p.Arg915Ter) c.784C>T (p.Arg262Ter) c.3988C>T (p.Arg1330Ter) c.498-5819G>A c.1294-5819G>A (n.1294-5819G>A) c.1585-1462G>A (n.1585-1462G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504432G>A | CA10067444 | COL18A1,SLC19A1 | c.3284G>A (p.Arg1095Gln) c.2744G>A (p.Arg915Gln) c.785G>A (p.Arg262Gln) c.3989G>A (p.Arg1330Gln) c.498-5820C>T c.1294-5820C>T (n.1294-5820C>T) c.1585-1463C>T (n.1585-1463C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504432G>C | CA410499123 | COL18A1,SLC19A1 | c.3284G>C (p.Arg1095Pro) c.2744G>C (p.Arg915Pro) c.785G>C (p.Arg262Pro) c.3989G>C (p.Arg1330Pro) c.498-5820C>G c.1294-5820C>G (n.1294-5820C>G) c.1585-1463C>G (n.1585-1463C>G) | gnomAD v4 |
21 | g.45504432G= | CA2392190667 | COL18A1,SLC19A1 | c.3284G= (p.Arg1095=) c.2744G= (p.Arg915=) c.785G= (p.Arg262=) c.3989G= (p.Arg1330=) c.498-5820C= c.1294-5820C= (n.1294-5820C=) c.1585-1463C= (n.1585-1463C=) | |
21 | g.45504432G>T | CA410499124 | COL18A1,SLC19A1 | c.3284G>T (p.Arg1095Leu) c.2744G>T (p.Arg915Leu) c.785G>T (p.Arg262Leu) c.3989G>T (p.Arg1330Leu) c.498-5820C>A c.1294-5820C>A (n.1294-5820C>A) c.1585-1463C>A (n.1585-1463C>A) | |
21 | g.45504433A>C | CA512687120 | COL18A1,SLC19A1 | c.3285A>C (p.Arg1095=) c.2745A>C (p.Arg915=) c.786A>C (p.Arg262=) c.3990A>C (p.Arg1330=) c.498-5821T>G c.1294-5821T>G (n.1294-5821T>G) c.1585-1464T>G (n.1585-1464T>G) | |
21 | g.45504433A>G | CA512687121 | COL18A1,SLC19A1 | c.3285A>G (p.Arg1095=) c.2745A>G (p.Arg915=) c.786A>G (p.Arg262=) c.3990A>G (p.Arg1330=) c.498-5821T>C c.1294-5821T>C (n.1294-5821T>C) c.1585-1464T>C (n.1585-1464T>C) | |
21 | g.45504433A>T | CA512687122 | COL18A1,SLC19A1 | c.3285A>T (p.Arg1095=) c.2745A>T (p.Arg915=) c.786A>T (p.Arg262=) c.3990A>T (p.Arg1330=) c.498-5821T>A c.1294-5821T>A (n.1294-5821T>A) c.1585-1464T>A (n.1585-1464T>A) | |
21 | g.45504434G>A | CA410499125 | COL18A1,SLC19A1 | c.3286G>A (p.Gly1096Ser) c.2746G>A (p.Gly916Ser) c.787G>A (p.Gly263Ser) c.3991G>A (p.Gly1331Ser) c.498-5822C>T c.1294-5822C>T (n.1294-5822C>T) c.1585-1465C>T (n.1585-1465C>T) | |
21 | g.45504434G>C | CA410499126 | COL18A1,SLC19A1 | c.3286G>C (p.Gly1096Arg) c.2746G>C (p.Gly916Arg) c.787G>C (p.Gly263Arg) c.3991G>C (p.Gly1331Arg) c.498-5822C>G c.1294-5822C>G (n.1294-5822C>G) c.1585-1465C>G (n.1585-1465C>G) | |
21 | g.45504434G>T | CA410499127 | COL18A1,SLC19A1 | c.3286G>T (p.Gly1096Cys) c.2746G>T (p.Gly916Cys) c.787G>T (p.Gly263Cys) c.3991G>T (p.Gly1331Cys) c.498-5822C>A c.1294-5822C>A (n.1294-5822C>A) c.1585-1465C>A (n.1585-1465C>A) | |
21 | g.45504435G>A | CA410499128 | COL18A1,SLC19A1 | c.3287G>A (p.Gly1096Asp) c.2747G>A (p.Gly916Asp) c.788G>A (p.Gly263Asp) c.3992G>A (p.Gly1331Asp) c.498-5823C>T c.1294-5823C>T (n.1294-5823C>T) c.1585-1466C>T (n.1585-1466C>T) | ClinVar dbSNP |
21 | g.45504435G>C | CA410499129 | COL18A1,SLC19A1 | c.3287G>C (p.Gly1096Ala) c.2747G>C (p.Gly916Ala) c.788G>C (p.Gly263Ala) c.3992G>C (p.Gly1331Ala) c.498-5823C>G c.1294-5823C>G (n.1294-5823C>G) c.1585-1466C>G (n.1585-1466C>G) | |
21 | g.45504435G= | CA2392190668 | COL18A1,SLC19A1 | c.3287G= (p.Gly1096=) c.2747G= (p.Gly916=) c.788G= (p.Gly263=) c.3992G= (p.Gly1331=) c.498-5823C= c.1294-5823C= (n.1294-5823C=) c.1585-1466C= (n.1585-1466C=) | |
21 | g.45504435G>T | CA410499130 | COL18A1,SLC19A1 | c.3287G>T (p.Gly1096Val) c.2747G>T (p.Gly916Val) c.788G>T (p.Gly263Val) c.3992G>T (p.Gly1331Val) c.498-5823C>A c.1294-5823C>A (n.1294-5823C>A) c.1585-1466C>A (n.1585-1466C>A) | |
21 | g.45504436T>A | CA512687124 | COL18A1,SLC19A1 | c.3288T>A (p.Gly1096=) c.2748T>A (p.Gly916=) c.789T>A (p.Gly263=) c.3993T>A (p.Gly1331=) c.498-5824A>T c.1294-5824A>T (n.1294-5824A>T) c.1585-1467A>T (n.1585-1467A>T) | |
21 | g.45504436T>C | CA10067445 | COL18A1,SLC19A1 | c.3288T>C (p.Gly1096=) c.2748T>C (p.Gly916=) c.789T>C (p.Gly263=) c.3993T>C (p.Gly1331=) c.498-5824A>G c.1294-5824A>G (n.1294-5824A>G) c.1585-1467A>G (n.1585-1467A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504436T>G | CA512687123 | COL18A1,SLC19A1 | c.3288T>G (p.Gly1096=) c.2748T>G (p.Gly916=) c.789T>G (p.Gly263=) c.3993T>G (p.Gly1331=) c.498-5824A>C c.1294-5824A>C (n.1294-5824A>C) c.1585-1467A>C (n.1585-1467A>C) | |
21 | g.45504436T= | CA2392190669 | COL18A1,SLC19A1 | c.3288T= (p.Gly1096=) c.2748T= (p.Gly916=) c.789T= (p.Gly263=) c.3993T= (p.Gly1331=) c.498-5824A= c.1294-5824A= (n.1294-5824A=) c.1585-1467A= (n.1585-1467A=) | |
21 | g.45504437G>A | CA410499131 | COL18A1,SLC19A1 | c.3289G>A (p.Asp1097Asn) c.2749G>A (p.Asp917Asn) c.790G>A (p.Asp264Asn) c.3994G>A (p.Asp1332Asn) c.498-5825C>T c.1294-5825C>T (n.1294-5825C>T) c.1585-1468C>T (n.1585-1468C>T) | ClinVar gnomAD v4 |
21 | g.45504437G>C | CA410499132 | COL18A1,SLC19A1 | c.3289G>C (p.Asp1097His) c.2749G>C (p.Asp917His) c.790G>C (p.Asp264His) c.3994G>C (p.Asp1332His) c.498-5825C>G c.1294-5825C>G (n.1294-5825C>G) c.1585-1468C>G (n.1585-1468C>G) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504437G= | CA2392190670 | COL18A1,SLC19A1 | c.3289G= (p.Asp1097=) c.2749G= (p.Asp917=) c.790G= (p.Asp264=) c.3994G= (p.Asp1332=) c.498-5825C= c.1294-5825C= (n.1294-5825C=) c.1585-1468C= (n.1585-1468C=) | |
21 | g.45504437G>T | CA410499133 | COL18A1,SLC19A1 | c.3289G>T (p.Asp1097Tyr) c.2749G>T (p.Asp917Tyr) c.790G>T (p.Asp264Tyr) c.3994G>T (p.Asp1332Tyr) c.498-5825C>A c.1294-5825C>A (n.1294-5825C>A) c.1585-1468C>A (n.1585-1468C>A) | |
21 | g.45504438A>C | CA410499134 | COL18A1,SLC19A1 | c.3290A>C (p.Asp1097Ala) c.2750A>C (p.Asp917Ala) c.791A>C (p.Asp264Ala) c.3995A>C (p.Asp1332Ala) c.498-5826T>G c.1294-5826T>G (n.1294-5826T>G) c.1585-1469T>G (n.1585-1469T>G) | |
21 | g.45504438A>G | CA410499135 | COL18A1,SLC19A1 | c.3290A>G (p.Asp1097Gly) c.2750A>G (p.Asp917Gly) c.791A>G (p.Asp264Gly) c.3995A>G (p.Asp1332Gly) c.498-5826T>C c.1294-5826T>C (n.1294-5826T>C) c.1585-1469T>C (n.1585-1469T>C) | |
21 | g.45504438A>T | CA410499136 | COL18A1,SLC19A1 | c.3290A>T (p.Asp1097Val) c.2750A>T (p.Asp917Val) c.791A>T (p.Asp264Val) c.3995A>T (p.Asp1332Val) c.498-5826T>A c.1294-5826T>A (n.1294-5826T>A) c.1585-1469T>A (n.1585-1469T>A) | |
21 | g.45504439T>A | CA410499137 | COL18A1,SLC19A1 | c.3291T>A (p.Asp1097Glu) c.2751T>A (p.Asp917Glu) c.792T>A (p.Asp264Glu) c.3996T>A (p.Asp1332Glu) c.498-5827A>T c.1294-5827A>T (n.1294-5827A>T) c.1585-1470A>T (n.1585-1470A>T) | |
21 | g.45504439T>C | CA512687125 | COL18A1,SLC19A1 | c.3291T>C (p.Asp1097=) c.2751T>C (p.Asp917=) c.792T>C (p.Asp264=) c.3996T>C (p.Asp1332=) c.498-5827A>G c.1294-5827A>G (n.1294-5827A>G) c.1585-1470A>G (n.1585-1470A>G) | |
21 | g.45504439T>G | CA410499138 | COL18A1,SLC19A1 | c.3291T>G (p.Asp1097Glu) c.2751T>G (p.Asp917Glu) c.792T>G (p.Asp264Glu) c.3996T>G (p.Asp1332Glu) c.498-5827A>C c.1294-5827A>C (n.1294-5827A>C) c.1585-1470A>C (n.1585-1470A>C) | |
21 | g.45504440G>A | CA10067446 | COL18A1,SLC19A1 | c.3292G>A (p.Ala1098Thr) c.2752G>A (p.Ala918Thr) c.793G>A (p.Ala265Thr) c.3997G>A (p.Ala1333Thr) c.498-5828C>T c.1294-5828C>T (n.1294-5828C>T) c.1585-1471C>T (n.1585-1471C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504440G>C | CA410499139 | COL18A1,SLC19A1 | c.3292G>C (p.Ala1098Pro) c.2752G>C (p.Ala918Pro) c.793G>C (p.Ala265Pro) c.3997G>C (p.Ala1333Pro) c.498-5828C>G c.1294-5828C>G (n.1294-5828C>G) c.1585-1471C>G (n.1585-1471C>G) | |
21 | g.45504440G= | CA2392190671 | COL18A1,SLC19A1 | c.3292G= (p.Ala1098=) c.2752G= (p.Ala918=) c.793G= (p.Ala265=) c.3997G= (p.Ala1333=) c.498-5828C= c.1294-5828C= (n.1294-5828C=) c.1585-1471C= (n.1585-1471C=) | |
21 | g.45504440G>T | CA10067447 | COL18A1,SLC19A1 | c.3292G>T (p.Ala1098Ser) c.2752G>T (p.Ala918Ser) c.793G>T (p.Ala265Ser) c.3997G>T (p.Ala1333Ser) c.498-5828C>A c.1294-5828C>A (n.1294-5828C>A) c.1585-1471C>A (n.1585-1471C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504441C>A | CA410499142 | COL18A1,SLC19A1 | c.3293C>A (p.Ala1098Glu) c.2753C>A (p.Ala918Glu) c.794C>A (p.Ala265Glu) c.3998C>A (p.Ala1333Glu) c.498-5829G>T c.1294-5829G>T (n.1294-5829G>T) c.1585-1472G>T (n.1585-1472G>T) | |
21 | g.45504441C= | CA2392190672 | COL18A1,SLC19A1 | c.3293C= (p.Ala1098=) c.2753C= (p.Ala918=) c.794C= (p.Ala265=) c.3998C= (p.Ala1333=) c.498-5829G= c.1294-5829G= (n.1294-5829G=) c.1585-1472G= (n.1585-1472G=) | |
21 | g.45504441C>G | CA410499141 | COL18A1,SLC19A1 | c.3293C>G (p.Ala1098Gly) c.2753C>G (p.Ala918Gly) c.794C>G (p.Ala265Gly) c.3998C>G (p.Ala1333Gly) c.498-5829G>C c.1294-5829G>C (n.1294-5829G>C) c.1585-1472G>C (n.1585-1472G>C) | |
21 | g.45504441C>T | CA410499140 | COL18A1,SLC19A1 | c.3293C>T (p.Ala1098Val) c.2753C>T (p.Ala918Val) c.794C>T (p.Ala265Val) c.3998C>T (p.Ala1333Val) c.498-5829G>A c.1294-5829G>A (n.1294-5829G>A) c.1585-1472G>A (n.1585-1472G>A) | ClinVar dbSNP gnomAD v4 |
21 | g.45504442A>C | CA512687128 | COL18A1,SLC19A1 | c.3294A>C (p.Ala1098=) c.2754A>C (p.Ala918=) c.795A>C (p.Ala265=) c.3999A>C (p.Ala1333=) c.498-5830T>G c.1294-5830T>G (n.1294-5830T>G) c.1585-1473T>G (n.1585-1473T>G) | ClinVar dbSNP |
21 | g.45504442A>G | CA512687127 | COL18A1,SLC19A1 | c.3294A>G (p.Ala1098=) c.2754A>G (p.Ala918=) c.795A>G (p.Ala265=) c.3999A>G (p.Ala1333=) c.498-5830T>C c.1294-5830T>C (n.1294-5830T>C) c.1585-1473T>C (n.1585-1473T>C) | gnomAD v4 |
21 | g.45504442A>T | CA512687126 | COL18A1,SLC19A1 | c.3294A>T (p.Ala1098=) c.2754A>T (p.Ala918=) c.795A>T (p.Ala265=) c.3999A>T (p.Ala1333=) c.498-5830T>A c.1294-5830T>A (n.1294-5830T>A) c.1585-1473T>A (n.1585-1473T>A) | |
21 | g.45504443G>A | CA410499143 | COL18A1,SLC19A1 | c.3295G>A (p.Gly1099Arg) c.2755G>A (p.Gly919Arg) c.796G>A (p.Gly266Arg) c.4000G>A (p.Gly1334Arg) c.498-5831C>T c.1294-5831C>T (n.1294-5831C>T) c.1585-1474C>T (n.1585-1474C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504443G>C | CA410499144 | COL18A1,SLC19A1 | c.3295G>C (p.Gly1099Arg) c.2755G>C (p.Gly919Arg) c.796G>C (p.Gly266Arg) c.4000G>C (p.Gly1334Arg) c.498-5831C>G c.1294-5831C>G (n.1294-5831C>G) c.1585-1474C>G (n.1585-1474C>G) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504443G= | CA2392190673 | COL18A1,SLC19A1 | c.3295G= (p.Gly1099=) c.2755G= (p.Gly919=) c.796G= (p.Gly266=) c.4000G= (p.Gly1334=) c.498-5831C= c.1294-5831C= (n.1294-5831C=) c.1585-1474C= (n.1585-1474C=) | |
21 | g.45504443G>T | CA410499145 | COL18A1,SLC19A1 | c.3295G>T (p.Gly1099Ter) c.2755G>T (p.Gly919Ter) c.796G>T (p.Gly266Ter) c.4000G>T (p.Gly1334Ter) c.498-5831C>A c.1294-5831C>A (n.1294-5831C>A) c.1585-1474C>A (n.1585-1474C>A) | dbSNP |
21 | g.45504444G>A | CA410499146 | COL18A1,SLC19A1 | c.3296G>A (p.Gly1099Glu) c.2756G>A (p.Gly919Glu) c.797G>A (p.Gly266Glu) c.4001G>A (p.Gly1334Glu) c.498-5832C>T c.1294-5832C>T (n.1294-5832C>T) c.1585-1475C>T (n.1585-1475C>T) | |
21 | g.45504444G>C | CA410499147 | COL18A1,SLC19A1 | c.3296G>C (p.Gly1099Ala) c.2756G>C (p.Gly919Ala) c.797G>C (p.Gly266Ala) c.4001G>C (p.Gly1334Ala) c.498-5832C>G c.1294-5832C>G (n.1294-5832C>G) c.1585-1475C>G (n.1585-1475C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504444G= | CA2392190674 | COL18A1,SLC19A1 | c.3296G= (p.Gly1099=) c.2756G= (p.Gly919=) c.797G= (p.Gly266=) c.4001G= (p.Gly1334=) c.498-5832C= c.1294-5832C= (n.1294-5832C=) c.1585-1475C= (n.1585-1475C=) | |
21 | g.45504444G>T | CA410499148 | COL18A1,SLC19A1 | c.3296G>T (p.Gly1099Val) c.2756G>T (p.Gly919Val) c.797G>T (p.Gly266Val) c.4001G>T (p.Gly1334Val) c.498-5832C>A c.1294-5832C>A (n.1294-5832C>A) c.1585-1475C>A (n.1585-1475C>A) | |
21 | g.45504445A= | CA2392190675 | COL18A1,SLC19A1 | c.3297A= (p.Gly1099=) c.2757A= (p.Gly919=) c.798A= (p.Gly266=) c.4002A= (p.Gly1334=) c.498-5833T= c.1294-5833T= (n.1294-5833T=) c.1585-1476T= (n.1585-1476T=) | |
21 | g.45504445A>C | CA512687129 | COL18A1,SLC19A1 | c.3297A>C (p.Gly1099=) c.2757A>C (p.Gly919=) c.798A>C (p.Gly266=) c.4002A>C (p.Gly1334=) c.498-5833T>G c.1294-5833T>G (n.1294-5833T>G) c.1585-1476T>G (n.1585-1476T>G) | ClinVar dbSNP |
21 | g.45504445A>G | CA512687130 | COL18A1,SLC19A1 | c.3297A>G (p.Gly1099=) c.2757A>G (p.Gly919=) c.798A>G (p.Gly266=) c.4002A>G (p.Gly1334=) c.498-5833T>C c.1294-5833T>C (n.1294-5833T>C) c.1585-1476T>C (n.1585-1476T>C) | ClinVar |
21 | g.45504445A>T | CA512687131 | COL18A1,SLC19A1 | c.3297A>T (p.Gly1099=) c.2757A>T (p.Gly919=) c.798A>T (p.Gly266=) c.4002A>T (p.Gly1334=) c.498-5833T>A c.1294-5833T>A (n.1294-5833T>A) c.1585-1476T>A (n.1585-1476T>A) | |
21 | g.45504446C>A | CA410499151 | COL18A1,SLC19A1 | c.3298C>A (p.Gln1100Lys) c.2758C>A (p.Gln920Lys) c.799C>A (p.Gln267Lys) c.4003C>A (p.Gln1335Lys) c.498-5834G>T c.1294-5834G>T (n.1294-5834G>T) c.1585-1477G>T (n.1585-1477G>T) | gnomAD v4 |
21 | g.45504446C= | CA2392190676 | COL18A1,SLC19A1 | c.3298C= (p.Gln1100=) c.2758C= (p.Gln920=) c.799C= (p.Gln267=) c.4003C= (p.Gln1335=) c.498-5834G= c.1294-5834G= (n.1294-5834G=) c.1585-1477G= (n.1585-1477G=) | |
21 | g.45504446C>G | CA410499149 | COL18A1,SLC19A1 | c.3298C>G (p.Gln1100Glu) c.2758C>G (p.Gln920Glu) c.799C>G (p.Gln267Glu) c.4003C>G (p.Gln1335Glu) c.498-5834G>C c.1294-5834G>C (n.1294-5834G>C) c.1585-1477G>C (n.1585-1477G>C) | |
21 | g.45504446C>T | CA410499150 | COL18A1,SLC19A1 | c.3298C>T (p.Gln1100Ter) c.2758C>T (p.Gln920Ter) c.799C>T (p.Gln267Ter) c.4003C>T (p.Gln1335Ter) c.498-5834G>A c.1294-5834G>A (n.1294-5834G>A) c.1585-1477G>A (n.1585-1477G>A) | dbSNP gnomAD v4 |
21 | g.45504447A>C | CA410499152 | COL18A1,SLC19A1 | c.3299A>C (p.Gln1100Pro) c.2759A>C (p.Gln920Pro) c.800A>C (p.Gln267Pro) c.4004A>C (p.Gln1335Pro) c.498-5835T>G c.1294-5835T>G (n.1294-5835T>G) c.1585-1478T>G (n.1585-1478T>G) | |
21 | g.45504447A>G | CA410499153 | COL18A1,SLC19A1 | c.3299A>G (p.Gln1100Arg) c.2759A>G (p.Gln920Arg) c.800A>G (p.Gln267Arg) c.4004A>G (p.Gln1335Arg) c.498-5835T>C c.1294-5835T>C (n.1294-5835T>C) c.1585-1478T>C (n.1585-1478T>C) | |
21 | g.45504447A>T | CA410499154 | COL18A1,SLC19A1 | c.3299A>T (p.Gln1100Leu) c.2759A>T (p.Gln920Leu) c.800A>T (p.Gln267Leu) c.4004A>T (p.Gln1335Leu) c.498-5835T>A c.1294-5835T>A (n.1294-5835T>A) c.1585-1478T>A (n.1585-1478T>A) | |
21 | g.45504448_45504449del | CA2654917900 | COL18A1,SLC19A1 | c.3300_3301del (p.Lys1101ArgfsTer?) c.2760_2761del (p.Lys921ArgfsTer?) c.801_802del (p.Lys268ArgfsTer?) c.4005_4006del (p.Lys1336ArgfsTer?) c.498-5836_498-5835del c.1294-5836_1294-5835del (n.1294-5836_1294-5835del) c.1585-1479_1585-1478del (n.1585-1479_1585-1478del) | gnomAD v4 |
21 | g.45504448G>A | CA512687132 | COL18A1,SLC19A1 | c.3300G>A (p.Gln1100=) c.2760G>A (p.Gln920=) c.801G>A (p.Gln267=) c.4005G>A (p.Gln1335=) c.498-5836C>T c.1294-5836C>T (n.1294-5836C>T) c.1585-1479C>T (n.1585-1479C>T) | |
21 | g.45504448G>C | CA410499155 | COL18A1,SLC19A1 | c.3300G>C (p.Gln1100His) c.2760G>C (p.Gln920His) c.801G>C (p.Gln267His) c.4005G>C (p.Gln1335His) c.498-5836C>G c.1294-5836C>G (n.1294-5836C>G) c.1585-1479C>G (n.1585-1479C>G) | |
21 | g.45504448G>T | CA410499156 | COL18A1,SLC19A1 | c.3300G>T (p.Gln1100His) c.2760G>T (p.Gln920His) c.801G>T (p.Gln267His) c.4005G>T (p.Gln1335His) c.498-5836C>A c.1294-5836C>A (n.1294-5836C>A) c.1585-1479C>A (n.1585-1479C>A) | |
21 | g.45504449A>C | CA410499157 | COL18A1,SLC19A1 | c.3301A>C (p.Lys1101Gln) c.2761A>C (p.Lys921Gln) c.802A>C (p.Lys268Gln) c.4006A>C (p.Lys1336Gln) c.498-5837T>G c.1294-5837T>G (n.1294-5837T>G) c.1585-1480T>G (n.1585-1480T>G) | |
21 | g.45504449A>G | CA410499159 | COL18A1,SLC19A1 | c.3301A>G (p.Lys1101Glu) c.2761A>G (p.Lys921Glu) c.802A>G (p.Lys268Glu) c.4006A>G (p.Lys1336Glu) c.498-5837T>C c.1294-5837T>C (n.1294-5837T>C) c.1585-1480T>C (n.1585-1480T>C) | |
21 | g.45504449A>T | CA410499158 | COL18A1,SLC19A1 | c.3301A>T (p.Lys1101Ter) c.2761A>T (p.Lys921Ter) c.802A>T (p.Lys268Ter) c.4006A>T (p.Lys1336Ter) c.498-5837T>A c.1294-5837T>A (n.1294-5837T>A) c.1585-1480T>A (n.1585-1480T>A) | gnomAD v4 |
21 | g.45504450A>C | CA410499160 | COL18A1,SLC19A1 | c.3302A>C (p.Lys1101Thr) c.2762A>C (p.Lys921Thr) c.803A>C (p.Lys268Thr) c.4007A>C (p.Lys1336Thr) c.498-5838T>G c.1294-5838T>G (n.1294-5838T>G) c.1585-1481T>G (n.1585-1481T>G) | |
21 | g.45504450A>G | CA410499161 | COL18A1,SLC19A1 | c.3302A>G (p.Lys1101Arg) c.2762A>G (p.Lys921Arg) c.803A>G (p.Lys268Arg) c.4007A>G (p.Lys1336Arg) c.498-5838T>C c.1294-5838T>C (n.1294-5838T>C) c.1585-1481T>C (n.1585-1481T>C) | gnomAD v4 |
21 | g.45504450A>T | CA410499162 | COL18A1,SLC19A1 | c.3302A>T (p.Lys1101Ile) c.2762A>T (p.Lys921Ile) c.803A>T (p.Lys268Ile) c.4007A>T (p.Lys1336Ile) c.498-5838T>A c.1294-5838T>A (n.1294-5838T>A) c.1585-1481T>A (n.1585-1481T>A) | |
21 | g.45504450_45504451insT | CA2654917905 | COL18A1,SLC19A1 | c.3302_3303insT (p.Lys1101AsnfsTer?) c.2762_2763insT (p.Lys921AsnfsTer?) c.803_804insT (p.Lys268AsnfsTer?) c.4007_4008insT (p.Lys1336AsnfsTer?) c.498-5839_498-5838insA c.1294-5839_1294-5838insA (n.1294-5839_1294-5838insA) c.1585-1482_1585-1481insA (n.1585-1482_1585-1481insA) | gnomAD v4 |
21 | g.45504451A>C | CA410499163 | COL18A1,SLC19A1 | c.3303A>C (p.Lys1101Asn) c.2763A>C (p.Lys921Asn) c.804A>C (p.Lys268Asn) c.4008A>C (p.Lys1336Asn) c.498-5839T>G c.1294-5839T>G (n.1294-5839T>G) c.1585-1482T>G (n.1585-1482T>G) | gnomAD v4 |
21 | g.45504451A>G | CA512687133 | COL18A1,SLC19A1 | c.3303A>G (p.Lys1101=) c.2763A>G (p.Lys921=) c.804A>G (p.Lys268=) c.4008A>G (p.Lys1336=) c.498-5839T>C c.1294-5839T>C (n.1294-5839T>C) c.1585-1482T>C (n.1585-1482T>C) | |
21 | g.45504451A>T | CA410499164 | COL18A1,SLC19A1 | c.3303A>T (p.Lys1101Asn) c.2763A>T (p.Lys921Asn) c.804A>T (p.Lys268Asn) c.4008A>T (p.Lys1336Asn) c.498-5839T>A c.1294-5839T>A (n.1294-5839T>A) c.1585-1482T>A (n.1585-1482T>A) | |
21 | g.45504452G>A | CA410499165 | COL18A1,SLC19A1 | c.3304G>A (p.Gly1102Ser) c.2764G>A (p.Gly922Ser) c.805G>A (p.Gly269Ser) c.4009G>A (p.Gly1337Ser) c.498-5840C>T c.1294-5840C>T (n.1294-5840C>T) c.1585-1483C>T (n.1585-1483C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504452G>C | CA410499166 | COL18A1,SLC19A1 | c.3304G>C (p.Gly1102Arg) c.2764G>C (p.Gly922Arg) c.805G>C (p.Gly269Arg) c.4009G>C (p.Gly1337Arg) c.498-5840C>G c.1294-5840C>G (n.1294-5840C>G) c.1585-1483C>G (n.1585-1483C>G) | |
21 | g.45504452G= | CA2392190677 | COL18A1,SLC19A1 | c.3304G= (p.Gly1102=) c.2764G= (p.Gly922=) c.805G= (p.Gly269=) c.4009G= (p.Gly1337=) c.498-5840C= c.1294-5840C= (n.1294-5840C=) c.1585-1483C= (n.1585-1483C=) | |
21 | g.45504452G>T | CA410499167 | COL18A1,SLC19A1 | c.3304G>T (p.Gly1102Cys) c.2764G>T (p.Gly922Cys) c.805G>T (p.Gly269Cys) c.4009G>T (p.Gly1337Cys) c.498-5840C>A c.1294-5840C>A (n.1294-5840C>A) c.1585-1483C>A (n.1585-1483C>A) | |
21 | g.45504453del | CA2654917907 | COL18A1,SLC19A1 | c.3305del (p.Gly1102AlafsTer?) c.2765del (p.Gly922AlafsTer?) c.806del (p.Gly269AlafsTer?) c.4010del (p.Gly1337AlafsTer?) c.498-5840del c.1294-5840del (n.1294-5840del) c.1585-1483del (n.1585-1483del) | gnomAD v4 |
21 | g.45504453G>A | CA410499168 | COL18A1,SLC19A1 | c.3305G>A (p.Gly1102Asp) c.2765G>A (p.Gly922Asp) c.806G>A (p.Gly269Asp) c.4010G>A (p.Gly1337Asp) c.498-5841C>T c.1294-5841C>T (n.1294-5841C>T) c.1585-1484C>T (n.1585-1484C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504453G>C | CA410499169 | COL18A1,SLC19A1 | c.3305G>C (p.Gly1102Ala) c.2765G>C (p.Gly922Ala) c.806G>C (p.Gly269Ala) c.4010G>C (p.Gly1337Ala) c.498-5841C>G c.1294-5841C>G (n.1294-5841C>G) c.1585-1484C>G (n.1585-1484C>G) | |
21 | g.45504453G= | CA2392190678 | COL18A1,SLC19A1 | c.3305G= (p.Gly1102=) c.2765G= (p.Gly922=) c.806G= (p.Gly269=) c.4010G= (p.Gly1337=) c.498-5841C= c.1294-5841C= (n.1294-5841C=) c.1585-1484C= (n.1585-1484C=) | |
21 | g.45504453G>T | CA410499170 | COL18A1,SLC19A1 | c.3305G>T (p.Gly1102Val) c.2765G>T (p.Gly922Val) c.806G>T (p.Gly269Val) c.4010G>T (p.Gly1337Val) c.498-5841C>A c.1294-5841C>A (n.1294-5841C>A) c.1585-1484C>A (n.1585-1484C>A) | |
21 | g.45504454C>A | CA512687134 | COL18A1,SLC19A1 | c.3306C>A (p.Gly1102=) c.2766C>A (p.Gly922=) c.807C>A (p.Gly269=) c.4011C>A (p.Gly1337=) c.498-5842G>T c.1294-5842G>T (n.1294-5842G>T) c.1585-1485G>T (n.1585-1485G>T) | gnomAD v4 |
21 | g.45504454C= | CA2392190679 | COL18A1,SLC19A1 | c.3306C= (p.Gly1102=) c.2766C= (p.Gly922=) c.807C= (p.Gly269=) c.4011C= (p.Gly1337=) c.498-5842G= c.1294-5842G= (n.1294-5842G=) c.1585-1485G= (n.1585-1485G=) | |
21 | g.45504454C>G | CA512687135 | COL18A1,SLC19A1 | c.3306C>G (p.Gly1102=) c.2766C>G (p.Gly922=) c.807C>G (p.Gly269=) c.4011C>G (p.Gly1337=) c.498-5842G>C c.1294-5842G>C (n.1294-5842G>C) c.1585-1485G>C (n.1585-1485G>C) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504454C>T | CA10067448 | COL18A1,SLC19A1 | c.3306C>T (p.Gly1102=) c.2766C>T (p.Gly922=) c.807C>T (p.Gly269=) c.4011C>T (p.Gly1337=) c.498-5842G>A c.1294-5842G>A (n.1294-5842G>A) c.1585-1485G>A (n.1585-1485G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504455G>A | CA10067449 | COL18A1,SLC19A1 | c.3307G>A (p.Glu1103Lys) c.2767G>A (p.Glu923Lys) c.808G>A (p.Glu270Lys) c.4012G>A (p.Glu1338Lys) c.498-5843C>T c.1294-5843C>T (n.1294-5843C>T) c.1585-1486C>T (n.1585-1486C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504455G>C | CA410499171 | COL18A1,SLC19A1 | c.3307G>C (p.Glu1103Gln) c.2767G>C (p.Glu923Gln) c.808G>C (p.Glu270Gln) c.4012G>C (p.Glu1338Gln) c.498-5843C>G c.1294-5843C>G (n.1294-5843C>G) c.1585-1486C>G (n.1585-1486C>G) | |
21 | g.45504455G= | CA2392190680 | COL18A1,SLC19A1 | c.3307G= (p.Glu1103=) c.2767G= (p.Glu923=) c.808G= (p.Glu270=) c.4012G= (p.Glu1338=) c.498-5843C= c.1294-5843C= (n.1294-5843C=) c.1585-1486C= (n.1585-1486C=) | |
21 | g.45504455G>T | CA410499172 | COL18A1,SLC19A1 | c.3307G>T (p.Glu1103Ter) c.2767G>T (p.Glu923Ter) c.808G>T (p.Glu270Ter) c.4012G>T (p.Glu1338Ter) c.498-5843C>A c.1294-5843C>A (n.1294-5843C>A) c.1585-1486C>A (n.1585-1486C>A) | gnomAD v4 |
21 | g.45504456A= | CA2392190681 | COL18A1,SLC19A1 | c.3308A= (p.Glu1103=) c.2768A= (p.Glu923=) c.809A= (p.Glu270=) c.4013A= (p.Glu1338=) c.498-5844T= c.1294-5844T= (n.1294-5844T=) c.1585-1487T= (n.1585-1487T=) | |
21 | g.45504456A>C | CA410499173 | COL18A1,SLC19A1 | c.3308A>C (p.Glu1103Ala) c.2768A>C (p.Glu923Ala) c.809A>C (p.Glu270Ala) c.4013A>C (p.Glu1338Ala) c.498-5844T>G c.1294-5844T>G (n.1294-5844T>G) c.1585-1487T>G (n.1585-1487T>G) | |
21 | g.45504456A>G | CA321921211 | COL18A1,SLC19A1 | c.3308A>G (p.Glu1103Gly) c.2768A>G (p.Glu923Gly) c.809A>G (p.Glu270Gly) c.4013A>G (p.Glu1338Gly) c.498-5844T>C c.1294-5844T>C (n.1294-5844T>C) c.1585-1487T>C (n.1585-1487T>C) | ClinVar dbSNP gnomAD v4 |
21 | g.45504456A>T | CA410499174 | COL18A1,SLC19A1 | c.3308A>T (p.Glu1103Val) c.2768A>T (p.Glu923Val) c.809A>T (p.Glu270Val) c.4013A>T (p.Glu1338Val) c.498-5844T>A c.1294-5844T>A (n.1294-5844T>A) c.1585-1487T>A (n.1585-1487T>A) | |
21 | g.45504456_45504457insT | CA2654917924 | COL18A1,SLC19A1 | c.3308_3309insT (p.Glu1103AspfsTer?) c.2768_2769insT (p.Glu923AspfsTer?) c.809_810insT (p.Glu270AspfsTer?) c.4013_4014insT (p.Glu1338AspfsTer?) c.498-5845_498-5844insA c.1294-5845_1294-5844insA (n.1294-5845_1294-5844insA) c.1585-1488_1585-1487insA (n.1585-1488_1585-1487insA) | gnomAD v4 |
21 | g.45504457A>C | CA410499175 | COL18A1,SLC19A1 | c.3309A>C (p.Glu1103Asp) c.2769A>C (p.Glu923Asp) c.810A>C (p.Glu270Asp) c.4014A>C (p.Glu1338Asp) c.498-5845T>G c.1294-5845T>G (n.1294-5845T>G) c.1585-1488T>G (n.1585-1488T>G) | gnomAD v4 |
21 | g.45504457A>G | CA512687136 | COL18A1,SLC19A1 | c.3309A>G (p.Glu1103=) c.2769A>G (p.Glu923=) c.810A>G (p.Glu270=) c.4014A>G (p.Glu1338=) c.498-5845T>C c.1294-5845T>C (n.1294-5845T>C) c.1585-1488T>C (n.1585-1488T>C) | |
21 | g.45504457A>T | CA410499176 | COL18A1,SLC19A1 | c.3309A>T (p.Glu1103Asp) c.2769A>T (p.Glu923Asp) c.810A>T (p.Glu270Asp) c.4014A>T (p.Glu1338Asp) c.498-5845T>A c.1294-5845T>A (n.1294-5845T>A) c.1585-1488T>A (n.1585-1488T>A) | |
21 | g.45504458A>C | CA512687137 | COL18A1,SLC19A1 | c.3310A>C (p.Arg1104=) c.2770A>C (p.Arg924=) c.811A>C (p.Arg271=) c.4015A>C (p.Arg1339=) c.498-5846T>G c.1294-5846T>G (n.1294-5846T>G) c.1585-1489T>G (n.1585-1489T>G) | |
21 | g.45504458A>G | CA410499177 | COL18A1,SLC19A1 | c.3310A>G (p.Arg1104Gly) c.2770A>G (p.Arg924Gly) c.811A>G (p.Arg271Gly) c.4015A>G (p.Arg1339Gly) c.498-5846T>C c.1294-5846T>C (n.1294-5846T>C) c.1585-1489T>C (n.1585-1489T>C) | gnomAD v4 |
21 | g.45504458A>T | CA410499178 | COL18A1,SLC19A1 | c.3310A>T (p.Arg1104Trp) c.2770A>T (p.Arg924Trp) c.811A>T (p.Arg271Trp) c.4015A>T (p.Arg1339Trp) c.498-5846T>A c.1294-5846T>A (n.1294-5846T>A) c.1585-1489T>A (n.1585-1489T>A) | |
21 | g.45504458_45504459delinsAG | CA2392190682 | COL18A1,SLC19A1 | c.3310_3311delinsAG (p.Arg1104=) c.2770_2771delinsAG (p.Arg924=) c.811_812delinsAG (p.Arg271=) c.4015_4016delinsAG (p.Arg1339=) c.498-5847_498-5846delinsCT c.1294-5847_1294-5846delinsCT (n.1294-5847_1294-5846delinsCT) c.1585-1490_1585-1489delinsCT (n.1585-1490_1585-1489delinsCT) | |
21 | g.45504459G>A | CA410499181 | COL18A1,SLC19A1 | c.3311G>A (p.Arg1104Lys) c.2771G>A (p.Arg924Lys) c.812G>A (p.Arg271Lys) c.4016G>A (p.Arg1339Lys) c.498-5847C>T c.1294-5847C>T (n.1294-5847C>T) c.1585-1490C>T (n.1585-1490C>T) | ClinVar dbSNP |
21 | g.45504459G>C | CA410499180 | COL18A1,SLC19A1 | c.3311G>C (p.Arg1104Thr) c.2771G>C (p.Arg924Thr) c.812G>C (p.Arg271Thr) c.4016G>C (p.Arg1339Thr) c.498-5847C>G c.1294-5847C>G (n.1294-5847C>G) c.1585-1490C>G (n.1585-1490C>G) | dbSNP gnomAD v4 |
21 | g.45504459G= | CA2392190683 | COL18A1,SLC19A1 | c.3311G= (p.Arg1104=) c.2771G= (p.Arg924=) c.812G= (p.Arg271=) c.4016G= (p.Arg1339=) c.498-5847C= c.1294-5847C= (n.1294-5847C=) c.1585-1490C= (n.1585-1490C=) | |
21 | g.45504459G>T | CA410499179 | COL18A1,SLC19A1 | c.3311G>T (p.Arg1104Met) c.2771G>T (p.Arg924Met) c.812G>T (p.Arg271Met) c.4016G>T (p.Arg1339Met) c.498-5847C>A c.1294-5847C>A (n.1294-5847C>A) c.1585-1490C>A (n.1585-1490C>A) | |
21 | g.45504464dup | CA10067451 | COL18A1,SLC19A1 | c.3316dup (p.Glu1106GlyfsTer?) c.2776dup (p.Glu926GlyfsTer?) c.817dup (p.Glu273GlyfsTer?) c.4021dup (p.Glu1341GlyfsTer?) c.498-5847dup c.1294-5847dup (n.1294-5847dup) c.1585-1490dup (n.1585-1490dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504464del | CA10067450 | COL18A1,SLC19A1 | c.3316del (p.Glu1106SerfsTer?) c.2776del (p.Glu926SerfsTer?) c.817del (p.Glu273SerfsTer?) c.4021del (p.Glu1341SerfsTer?) c.498-5847del c.1294-5847del (n.1294-5847del) c.1585-1490del (n.1585-1490del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504460G>A | CA10067452 | COL18A1,SLC19A1 | c.3312G>A (p.Arg1104=) c.2772G>A (p.Arg924=) c.813G>A (p.Arg271=) c.4017G>A (p.Arg1339=) c.498-5848C>T c.1294-5848C>T (n.1294-5848C>T) c.1585-1491C>T (n.1585-1491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504460G>C | CA10067453 | COL18A1,SLC19A1 | c.3312G>C (p.Arg1104Ser) c.2772G>C (p.Arg924Ser) c.813G>C (p.Arg271Ser) c.4017G>C (p.Arg1339Ser) c.498-5848C>G c.1294-5848C>G (n.1294-5848C>G) c.1585-1491C>G (n.1585-1491C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504460G= | CA2392190684 | COL18A1,SLC19A1 | c.3312G= (p.Arg1104=) c.2772G= (p.Arg924=) c.813G= (p.Arg271=) c.4017G= (p.Arg1339=) c.498-5848C= c.1294-5848C= (n.1294-5848C=) c.1585-1491C= (n.1585-1491C=) | |
21 | g.45504460G>T | CA10067454 | COL18A1,SLC19A1 | c.3312G>T (p.Arg1104Ser) c.2772G>T (p.Arg924Ser) c.813G>T (p.Arg271Ser) c.4017G>T (p.Arg1339Ser) c.498-5848C>A c.1294-5848C>A (n.1294-5848C>A) c.1585-1491C>A (n.1585-1491C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504461G>A | CA410499182 | COL18A1,SLC19A1 | c.3313G>A (p.Gly1105Arg) c.2773G>A (p.Gly925Arg) c.814G>A (p.Gly272Arg) c.4018G>A (p.Gly1340Arg) c.498-5849C>T c.1294-5849C>T (n.1294-5849C>T) c.1585-1492C>T (n.1585-1492C>T) | |
21 | g.45504461G>C | CA410499183 | COL18A1,SLC19A1 | c.3313G>C (p.Gly1105Arg) c.2773G>C (p.Gly925Arg) c.814G>C (p.Gly272Arg) c.4018G>C (p.Gly1340Arg) c.498-5849C>G c.1294-5849C>G (n.1294-5849C>G) c.1585-1492C>G (n.1585-1492C>G) | |
21 | g.45504461G>T | CA410499184 | COL18A1,SLC19A1 | c.3313G>T (p.Gly1105Trp) c.2773G>T (p.Gly925Trp) c.814G>T (p.Gly272Trp) c.4018G>T (p.Gly1340Trp) c.498-5849C>A c.1294-5849C>A (n.1294-5849C>A) c.1585-1492C>A (n.1585-1492C>A) | |
21 | g.45504462G>A | CA10067455 | COL18A1,SLC19A1 | c.3314G>A (p.Gly1105Glu) c.2774G>A (p.Gly925Glu) c.815G>A (p.Gly272Glu) c.4019G>A (p.Gly1340Glu) c.498-5850C>T c.1294-5850C>T (n.1294-5850C>T) c.1585-1493C>T (n.1585-1493C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504462G>C | CA410499186 | COL18A1,SLC19A1 | c.3314G>C (p.Gly1105Ala) c.2774G>C (p.Gly925Ala) c.815G>C (p.Gly272Ala) c.4019G>C (p.Gly1340Ala) c.498-5850C>G c.1294-5850C>G (n.1294-5850C>G) c.1585-1493C>G (n.1585-1493C>G) | |
21 | g.45504462G= | CA2392190685 | COL18A1,SLC19A1 | c.3314G= (p.Gly1105=) c.2774G= (p.Gly925=) c.815G= (p.Gly272=) c.4019G= (p.Gly1340=) c.498-5850C= c.1294-5850C= (n.1294-5850C=) c.1585-1493C= (n.1585-1493C=) | |
21 | g.45504462G>T | CA410499185 | COL18A1,SLC19A1 | c.3314G>T (p.Gly1105Val) c.2774G>T (p.Gly925Val) c.815G>T (p.Gly272Val) c.4019G>T (p.Gly1340Val) c.498-5850C>A c.1294-5850C>A (n.1294-5850C>A) c.1585-1493C>A (n.1585-1493C>A) | |
21 | g.45504462_45504463insA | CA2654917961 | COL18A1,SLC19A1 | c.3314_3315insA (p.Glu1106GlyfsTer?) c.2774_2775insA (p.Glu926GlyfsTer?) c.815_816insA (p.Glu273GlyfsTer?) c.4019_4020insA (p.Glu1341GlyfsTer?) c.498-5851_498-5850insT c.1294-5851_1294-5850insT (n.1294-5851_1294-5850insT) c.1585-1494_1585-1493insT (n.1585-1494_1585-1493insT) | gnomAD v4 |
21 | g.45504463G>A | CA512687138 | COL18A1,SLC19A1 | c.3315G>A (p.Gly1105=) c.2775G>A (p.Gly925=) c.816G>A (p.Gly272=) c.4020G>A (p.Gly1340=) c.498-5851C>T c.1294-5851C>T (n.1294-5851C>T) c.1585-1494C>T (n.1585-1494C>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504463G>C | CA10067456 | COL18A1,SLC19A1 | c.3315G>C (p.Gly1105=) c.2775G>C (p.Gly925=) c.816G>C (p.Gly272=) c.4020G>C (p.Gly1340=) c.498-5851C>G c.1294-5851C>G (n.1294-5851C>G) c.1585-1494C>G (n.1585-1494C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504463G= | CA2392190686 | COL18A1,SLC19A1 | c.3315G= (p.Gly1105=) c.2775G= (p.Gly925=) c.816G= (p.Gly272=) c.4020G= (p.Gly1340=) c.498-5851C= c.1294-5851C= (n.1294-5851C=) c.1585-1494C= (n.1585-1494C=) | |
21 | g.45504463G>T | CA10067457 | COL18A1,SLC19A1 | c.3315G>T (p.Gly1105=) c.2775G>T (p.Gly925=) c.816G>T (p.Gly272=) c.4020G>T (p.Gly1340=) c.498-5851C>A c.1294-5851C>A (n.1294-5851C>A) c.1585-1494C>A (n.1585-1494C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504464G>A | CA410499187 | COL18A1,SLC19A1 | c.3316G>A (p.Glu1106Lys) c.2776G>A (p.Glu926Lys) c.817G>A (p.Glu273Lys) c.4021G>A (p.Glu1341Lys) c.498-5852C>T c.1294-5852C>T (n.1294-5852C>T) c.1585-1495C>T (n.1585-1495C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504464G>C | CA410499188 | COL18A1,SLC19A1 | c.3316G>C (p.Glu1106Gln) c.2776G>C (p.Glu926Gln) c.817G>C (p.Glu273Gln) c.4021G>C (p.Glu1341Gln) c.498-5852C>G c.1294-5852C>G (n.1294-5852C>G) c.1585-1495C>G (n.1585-1495C>G) | |
21 | g.45504464G= | CA2392190687 | COL18A1,SLC19A1 | c.3316G= (p.Glu1106=) c.2776G= (p.Glu926=) c.817G= (p.Glu273=) c.4021G= (p.Glu1341=) c.498-5852C= c.1294-5852C= (n.1294-5852C=) c.1585-1495C= (n.1585-1495C=) | |
21 | g.45504464G>T | CA410499189 | COL18A1,SLC19A1 | c.3316G>T (p.Glu1106Ter) c.2776G>T (p.Glu926Ter) c.817G>T (p.Glu273Ter) c.4021G>T (p.Glu1341Ter) c.498-5852C>A c.1294-5852C>A (n.1294-5852C>A) c.1585-1495C>A (n.1585-1495C>A) | |
21 | g.45504465A= | CA2392190688 | COL18A1,SLC19A1 | c.3317A= (p.Glu1106=) c.2777A= (p.Glu926=) c.818A= (p.Glu273=) c.4022A= (p.Glu1341=) c.498-5853T= c.1294-5853T= (n.1294-5853T=) c.1585-1496T= (n.1585-1496T=) | |
21 | g.45504465A>C | CA410499190 | COL18A1,SLC19A1 | c.3317A>C (p.Glu1106Ala) c.2777A>C (p.Glu926Ala) c.818A>C (p.Glu273Ala) c.4022A>C (p.Glu1341Ala) c.498-5853T>G c.1294-5853T>G (n.1294-5853T>G) c.1585-1496T>G (n.1585-1496T>G) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504465A>G | CA410499191 | COL18A1,SLC19A1 | c.3317A>G (p.Glu1106Gly) c.2777A>G (p.Glu926Gly) c.818A>G (p.Glu273Gly) c.4022A>G (p.Glu1341Gly) c.498-5853T>C c.1294-5853T>C (n.1294-5853T>C) c.1585-1496T>C (n.1585-1496T>C) | |
21 | g.45504465A>T | CA410499192 | COL18A1,SLC19A1 | c.3317A>T (p.Glu1106Val) c.2777A>T (p.Glu926Val) c.818A>T (p.Glu273Val) c.4022A>T (p.Glu1341Val) c.498-5853T>A c.1294-5853T>A (n.1294-5853T>A) c.1585-1496T>A (n.1585-1496T>A) | |
21 | g.45504466G>A | CA10067458 | COL18A1,SLC19A1 | c.3318G>A (p.Glu1106=) c.2778G>A (p.Glu926=) c.819G>A (p.Glu273=) c.4023G>A (p.Glu1341=) c.498-5854C>T c.1294-5854C>T (n.1294-5854C>T) c.1585-1497C>T (n.1585-1497C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504466G>C | CA410499193 | COL18A1,SLC19A1 | c.3318G>C (p.Glu1106Asp) c.2778G>C (p.Glu926Asp) c.819G>C (p.Glu273Asp) c.4023G>C (p.Glu1341Asp) c.498-5854C>G c.1294-5854C>G (n.1294-5854C>G) c.1585-1497C>G (n.1585-1497C>G) | |
21 | g.45504466G= | CA2392190689 | COL18A1,SLC19A1 | c.3318G= (p.Glu1106=) c.2778G= (p.Glu926=) c.819G= (p.Glu273=) c.4023G= (p.Glu1341=) c.498-5854C= c.1294-5854C= (n.1294-5854C=) c.1585-1497C= (n.1585-1497C=) | |
21 | g.45504466G>T | CA410499194 | COL18A1,SLC19A1 | c.3318G>T (p.Glu1106Asp) c.2778G>T (p.Glu926Asp) c.819G>T (p.Glu273Asp) c.4023G>T (p.Glu1341Asp) c.498-5854C>A c.1294-5854C>A (n.1294-5854C>A) c.1585-1497C>A (n.1585-1497C>A) | gnomAD v4 |
21 | g.45504467_45504470del | CA2577627016 | COL18A1,SLC19A1 | c.3319_3322del (p.Pro1107GlyfsTer?) c.2779_2782del (p.Pro927GlyfsTer?) c.820_823del (p.Pro274GlyfsTer?) c.4024_4027del (p.Pro1342GlyfsTer?) c.498-5857_498-5854del c.1294-5857_1294-5854del (n.1294-5857_1294-5854del) c.1585-1500_1585-1497del (n.1585-1500_1585-1497del) | gnomAD v4 |
21 | g.45504467C>A | CA410499195 | COL18A1,SLC19A1 | c.3319C>A (p.Pro1107Thr) c.2779C>A (p.Pro927Thr) c.820C>A (p.Pro274Thr) c.4024C>A (p.Pro1342Thr) c.498-5855G>T c.1294-5855G>T (n.1294-5855G>T) c.1585-1498G>T (n.1585-1498G>T) | |
21 | g.45504467C= | CA2392190690 | COL18A1,SLC19A1 | c.3319C= (p.Pro1107=) c.2779C= (p.Pro927=) c.820C= (p.Pro274=) c.4024C= (p.Pro1342=) c.498-5855G= c.1294-5855G= (n.1294-5855G=) c.1585-1498G= (n.1585-1498G=) | |
21 | g.45504467C>G | CA10067459 | COL18A1,SLC19A1 | c.3319C>G (p.Pro1107Ala) c.2779C>G (p.Pro927Ala) c.820C>G (p.Pro274Ala) c.4024C>G (p.Pro1342Ala) c.498-5855G>C c.1294-5855G>C (n.1294-5855G>C) c.1585-1498G>C (n.1585-1498G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504467C>T | CA410499196 | COL18A1,SLC19A1 | c.3319C>T (p.Pro1107Ser) c.2779C>T (p.Pro927Ser) c.820C>T (p.Pro274Ser) c.4024C>T (p.Pro1342Ser) c.498-5855G>A c.1294-5855G>A (n.1294-5855G>A) c.1585-1498G>A (n.1585-1498G>A) | gnomAD v4 |
21 | g.45504469dup | CA749787590 | COL18A1,SLC19A1 | c.3321dup (p.Gly1108ArgfsTer?) c.2781dup (p.Gly928ArgfsTer?) c.822dup (p.Gly275ArgfsTer?) c.4026dup (p.Gly1343ArgfsTer?) c.498-5855dup c.1294-5855dup (n.1294-5855dup) c.1585-1498dup (n.1585-1498dup) | ClinVar dbSNP |
21 | g.45504468C>A | CA410499197 | COL18A1,SLC19A1 | c.3320C>A (p.Pro1107His) c.2780C>A (p.Pro927His) c.821C>A (p.Pro274His) c.4025C>A (p.Pro1342His) c.498-5856G>T c.1294-5856G>T (n.1294-5856G>T) c.1585-1499G>T (n.1585-1499G>T) | |
21 | g.45504468C= | CA2392190691 | COL18A1,SLC19A1 | c.3320C= (p.Pro1107=) c.2780C= (p.Pro927=) c.821C= (p.Pro274=) c.4025C= (p.Pro1342=) c.498-5856G= c.1294-5856G= (n.1294-5856G=) c.1585-1499G= (n.1585-1499G=) | |
21 | g.45504468C>G | CA410499198 | COL18A1,SLC19A1 | c.3320C>G (p.Pro1107Arg) c.2780C>G (p.Pro927Arg) c.821C>G (p.Pro274Arg) c.4025C>G (p.Pro1342Arg) c.498-5856G>C c.1294-5856G>C (n.1294-5856G>C) c.1585-1499G>C (n.1585-1499G>C) | gnomAD v4 |
21 | g.45504468C>T | CA10067461 | COL18A1,SLC19A1 | c.3320C>T (p.Pro1107Leu) c.2780C>T (p.Pro927Leu) c.821C>T (p.Pro274Leu) c.4025C>T (p.Pro1342Leu) c.498-5856G>A c.1294-5856G>A (n.1294-5856G>A) c.1585-1499G>A (n.1585-1499G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504468_45504469insT | CA10067460 | COL18A1,SLC19A1 | c.3320_3321insT (p.Gly1108ArgfsTer?) c.2780_2781insT (p.Gly928ArgfsTer?) c.821_822insT (p.Gly275ArgfsTer?) c.4025_4026insT (p.Gly1343ArgfsTer?) c.498-5857_498-5856insA c.1294-5857_1294-5856insA (n.1294-5857_1294-5856insA) c.1585-1500_1585-1499insA (n.1585-1500_1585-1499insA) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504469C>A | CA512687139 | COL18A1,SLC19A1 | c.3321C>A (p.Pro1107=) c.2781C>A (p.Pro927=) c.822C>A (p.Pro274=) c.4026C>A (p.Pro1342=) c.498-5857G>T c.1294-5857G>T (n.1294-5857G>T) c.1585-1500G>T (n.1585-1500G>T) | gnomAD v4 |
21 | g.45504469C= | CA2392190692 | COL18A1,SLC19A1 | c.3321C= (p.Pro1107=) c.2781C= (p.Pro927=) c.822C= (p.Pro274=) c.4026C= (p.Pro1342=) c.498-5857G= c.1294-5857G= (n.1294-5857G=) c.1585-1500G= (n.1585-1500G=) | |
21 | g.45504469C>G | CA10067463 | COL18A1,SLC19A1 | c.3321C>G (p.Pro1107=) c.2781C>G (p.Pro927=) c.822C>G (p.Pro274=) c.4026C>G (p.Pro1342=) c.498-5857G>C c.1294-5857G>C (n.1294-5857G>C) c.1585-1500G>C (n.1585-1500G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504469C>T | CA10067462 | COL18A1,SLC19A1 | c.3321C>T (p.Pro1107=) c.2781C>T (p.Pro927=) c.822C>T (p.Pro274=) c.4026C>T (p.Pro1342=) c.498-5857G>A c.1294-5857G>A (n.1294-5857G>A) c.1585-1500G>A (n.1585-1500G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504469_45504470delinsCG | CA2392190693 | COL18A1,SLC19A1 | c.3321_3322delinsCG (p.Pro1107=) c.2781_2782delinsCG (p.Pro927=) c.822_823delinsCG (p.Pro274=) c.4026_4027delinsCG (p.Pro1342=) c.498-5858_498-5857delinsCG c.1294-5858_1294-5857delinsCG (n.1294-5858_1294-5857delinsCG) c.1585-1501_1585-1500delinsCG (n.1585-1501_1585-1500delinsCG) | |
21 | g.45504470G>A | CA10067465 | COL18A1,SLC19A1 | c.3322G>A (p.Gly1108Arg) c.2782G>A (p.Gly928Arg) c.823G>A (p.Gly275Arg) c.4027G>A (p.Gly1343Arg) c.498-5858C>T c.1294-5858C>T (n.1294-5858C>T) c.1585-1501C>T (n.1585-1501C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504470G>C | CA10067464 | COL18A1,SLC19A1 | c.3322G>C (p.Gly1108Arg) c.2782G>C (p.Gly928Arg) c.823G>C (p.Gly275Arg) c.4027G>C (p.Gly1343Arg) c.498-5858C>G c.1294-5858C>G (n.1294-5858C>G) c.1585-1501C>G (n.1585-1501C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504470G= | CA2392190694 | COL18A1,SLC19A1 | c.3322G= (p.Gly1108=) c.2782G= (p.Gly928=) c.823G= (p.Gly275=) c.4027G= (p.Gly1343=) c.498-5858C= c.1294-5858C= (n.1294-5858C=) c.1585-1501C= (n.1585-1501C=) | |
21 | g.45504470G>T | CA410499199 | COL18A1,SLC19A1 | c.3322G>T (p.Gly1108Trp) c.2782G>T (p.Gly928Trp) c.823G>T (p.Gly275Trp) c.4027G>T (p.Gly1343Trp) c.498-5858C>A c.1294-5858C>A (n.1294-5858C>A) c.1585-1501C>A (n.1585-1501C>A) | |
21 | g.45504474dup | CA2573157796 | COL18A1,SLC19A1 | c.3326dup (p.Gly1110ArgfsTer?) c.2786dup (p.Gly930ArgfsTer?) c.827dup (p.Gly277ArgfsTer?) c.4031dup (p.Gly1345ArgfsTer?) c.498-5858dup c.1294-5858dup (n.1294-5858dup) c.1585-1501dup (n.1585-1501dup) | ClinVar dbSNP gnomAD v4 |
21 | g.45504474del | CA638497335 | COL18A1,SLC19A1 | c.3326del (p.Gly1109AlafsTer?) c.2786del (p.Gly929AlafsTer?) c.827del (p.Gly276AlafsTer?) c.4031del (p.Gly1344AlafsTer?) c.498-5858del c.1294-5858del (n.1294-5858del) c.1585-1501del (n.1585-1501del) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504471G>A | CA410499200 | COL18A1,SLC19A1 | c.3323G>A (p.Gly1108Glu) c.2783G>A (p.Gly928Glu) c.824G>A (p.Gly275Glu) c.4028G>A (p.Gly1343Glu) c.498-5859C>T c.1294-5859C>T (n.1294-5859C>T) c.1585-1502C>T (n.1585-1502C>T) | gnomAD v4 |
21 | g.45504471G>C | CA410499201 | COL18A1,SLC19A1 | c.3323G>C (p.Gly1108Ala) c.2783G>C (p.Gly928Ala) c.824G>C (p.Gly275Ala) c.4028G>C (p.Gly1343Ala) c.498-5859C>G c.1294-5859C>G (n.1294-5859C>G) c.1585-1502C>G (n.1585-1502C>G) | |
21 | g.45504471G>T | CA410499202 | COL18A1,SLC19A1 | c.3323G>T (p.Gly1108Val) c.2783G>T (p.Gly928Val) c.824G>T (p.Gly275Val) c.4028G>T (p.Gly1343Val) c.498-5859C>A c.1294-5859C>A (n.1294-5859C>A) c.1585-1502C>A (n.1585-1502C>A) | |
21 | g.45504472G>A | CA10067466 | COL18A1,SLC19A1 | c.3324G>A (p.Gly1108=) c.2784G>A (p.Gly928=) c.825G>A (p.Gly275=) c.4029G>A (p.Gly1343=) c.498-5860C>T c.1294-5860C>T (n.1294-5860C>T) c.1585-1503C>T (n.1585-1503C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504472G>C | CA512687141 | COL18A1,SLC19A1 | c.3324G>C (p.Gly1108=) c.2784G>C (p.Gly928=) c.825G>C (p.Gly275=) c.4029G>C (p.Gly1343=) c.498-5860C>G c.1294-5860C>G (n.1294-5860C>G) c.1585-1503C>G (n.1585-1503C>G) | gnomAD v4 |
21 | g.45504472G= | CA2392190695 | COL18A1,SLC19A1 | c.3324G= (p.Gly1108=) c.2784G= (p.Gly928=) c.825G= (p.Gly275=) c.4029G= (p.Gly1343=) c.498-5860C= c.1294-5860C= (n.1294-5860C=) c.1585-1503C= (n.1585-1503C=) | |
21 | g.45504472G>T | CA512687140 | COL18A1,SLC19A1 | c.3324G>T (p.Gly1108=) c.2784G>T (p.Gly928=) c.825G>T (p.Gly275=) c.4029G>T (p.Gly1343=) c.498-5860C>A c.1294-5860C>A (n.1294-5860C>A) c.1585-1503C>A (n.1585-1503C>A) | |
21 | g.45504473G>A | CA10067467 | COL18A1,SLC19A1 | c.3325G>A (p.Gly1109Ser) c.2785G>A (p.Gly929Ser) c.826G>A (p.Gly276Ser) c.4030G>A (p.Gly1344Ser) c.498-5861C>T c.1294-5861C>T (n.1294-5861C>T) c.1585-1504C>T (n.1585-1504C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504473G>C | CA410499204 | COL18A1,SLC19A1 | c.3325G>C (p.Gly1109Arg) c.2785G>C (p.Gly929Arg) c.826G>C (p.Gly276Arg) c.4030G>C (p.Gly1344Arg) c.498-5861C>G c.1294-5861C>G (n.1294-5861C>G) c.1585-1504C>G (n.1585-1504C>G) | |
21 | g.45504473G= | CA2392190696 | COL18A1,SLC19A1 | c.3325G= (p.Gly1109=) c.2785G= (p.Gly929=) c.826G= (p.Gly276=) c.4030G= (p.Gly1344=) c.498-5861C= c.1294-5861C= (n.1294-5861C=) c.1585-1504C= (n.1585-1504C=) | |
21 | g.45504473G>T | CA410499203 | COL18A1,SLC19A1 | c.3325G>T (p.Gly1109Cys) c.2785G>T (p.Gly929Cys) c.826G>T (p.Gly276Cys) c.4030G>T (p.Gly1344Cys) c.498-5861C>A c.1294-5861C>A (n.1294-5861C>A) c.1585-1504C>A (n.1585-1504C>A) | gnomAD v4 |
21 | g.45504474G>A | CA10067468 | COL18A1,SLC19A1 | c.3326G>A (p.Gly1109Asp) c.2786G>A (p.Gly929Asp) c.827G>A (p.Gly276Asp) c.4031G>A (p.Gly1344Asp) c.498-5862C>T c.1294-5862C>T (n.1294-5862C>T) c.1585-1505C>T (n.1585-1505C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504474G>C | CA410499205 | COL18A1,SLC19A1 | c.3326G>C (p.Gly1109Ala) c.2786G>C (p.Gly929Ala) c.827G>C (p.Gly276Ala) c.4031G>C (p.Gly1344Ala) c.498-5862C>G c.1294-5862C>G (n.1294-5862C>G) c.1585-1505C>G (n.1585-1505C>G) | |
21 | g.45504474G= | CA2392190697 | COL18A1,SLC19A1 | c.3326G= (p.Gly1109=) c.2786G= (p.Gly929=) c.827G= (p.Gly276=) c.4031G= (p.Gly1344=) c.498-5862C= c.1294-5862C= (n.1294-5862C=) c.1585-1505C= (n.1585-1505C=) | |
21 | g.45504474G>T | CA410499206 | COL18A1,SLC19A1 | c.3326G>T (p.Gly1109Val) c.2786G>T (p.Gly929Val) c.827G>T (p.Gly276Val) c.4031G>T (p.Gly1344Val) c.498-5862C>A c.1294-5862C>A (n.1294-5862C>A) c.1585-1505C>A (n.1585-1505C>A) | |
21 | g.45504474_45504475insA | CA2654918047 | COL18A1,SLC19A1 | c.3326_3327insA (p.Gly1110ArgfsTer?) c.2786_2787insA (p.Gly930ArgfsTer?) c.827_828insA (p.Gly277ArgfsTer?) c.4031_4032insA (p.Gly1345ArgfsTer?) c.498-5863_498-5862insT c.1294-5863_1294-5862insT (n.1294-5863_1294-5862insT) c.1585-1506_1585-1505insT (n.1585-1506_1585-1505insT) | gnomAD v4 |
21 | g.45504475C>A | CA512687143 | COL18A1,SLC19A1 | c.3327C>A (p.Gly1109=) c.2787C>A (p.Gly929=) c.828C>A (p.Gly276=) c.4032C>A (p.Gly1344=) c.498-5863G>T c.1294-5863G>T (n.1294-5863G>T) c.1585-1506G>T (n.1585-1506G>T) | gnomAD v4 |
21 | g.45504475C= | CA2392190698 | COL18A1,SLC19A1 | c.3327C= (p.Gly1109=) c.2787C= (p.Gly929=) c.828C= (p.Gly276=) c.4032C= (p.Gly1344=) c.498-5863G= c.1294-5863G= (n.1294-5863G=) c.1585-1506G= (n.1585-1506G=) | |
21 | g.45504475C>G | CA512687142 | COL18A1,SLC19A1 | c.3327C>G (p.Gly1109=) c.2787C>G (p.Gly929=) c.828C>G (p.Gly276=) c.4032C>G (p.Gly1344=) c.498-5863G>C c.1294-5863G>C (n.1294-5863G>C) c.1585-1506G>C (n.1585-1506G>C) | dbSNP |
21 | g.45504475C>T | CA10067469 | COL18A1,SLC19A1 | c.3327C>T (p.Gly1109=) c.2787C>T (p.Gly929=) c.828C>T (p.Gly276=) c.4032C>T (p.Gly1344=) c.498-5863G>A c.1294-5863G>A (n.1294-5863G>A) c.1585-1506G>A (n.1585-1506G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504476G>A | CA10067470 | COL18A1,SLC19A1 | c.3328G>A (p.Gly1110Ser) c.2788G>A (p.Gly930Ser) c.829G>A (p.Gly277Ser) c.4033G>A (p.Gly1345Ser) c.498-5864C>T c.1294-5864C>T (n.1294-5864C>T) c.1585-1507C>T (n.1585-1507C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504476G>C | CA410499207 | COL18A1,SLC19A1 | c.3328G>C (p.Gly1110Arg) c.2788G>C (p.Gly930Arg) c.829G>C (p.Gly277Arg) c.4033G>C (p.Gly1345Arg) c.498-5864C>G c.1294-5864C>G (n.1294-5864C>G) c.1585-1507C>G (n.1585-1507C>G) | |
21 | g.45504476G= | CA2392190699 | COL18A1,SLC19A1 | c.3328G= (p.Gly1110=) c.2788G= (p.Gly930=) c.829G= (p.Gly277=) c.4033G= (p.Gly1345=) c.498-5864C= c.1294-5864C= (n.1294-5864C=) c.1585-1507C= (n.1585-1507C=) | |
21 | g.45504476G>T | CA410499208 | COL18A1,SLC19A1 | c.3328G>T (p.Gly1110Cys) c.2788G>T (p.Gly930Cys) c.829G>T (p.Gly277Cys) c.4033G>T (p.Gly1345Cys) c.498-5864C>A c.1294-5864C>A (n.1294-5864C>A) c.1585-1507C>A (n.1585-1507C>A) | gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.45504477G>A | CA410499209 | COL18A1,SLC19A1 | c.3329G>A (p.Gly1110Asp) c.2789G>A (p.Gly930Asp) c.830G>A (p.Gly277Asp) c.4034G>A (p.Gly1345Asp) c.498-5865C>T c.1294-5865C>T (n.1294-5865C>T) c.1585-1508C>T (n.1585-1508C>T) | |
21 | g.45504477G>C | CA410499210 | COL18A1,SLC19A1 | c.3329G>C (p.Gly1110Ala) c.2789G>C (p.Gly930Ala) c.830G>C (p.Gly277Ala) c.4034G>C (p.Gly1345Ala) c.498-5865C>G c.1294-5865C>G (n.1294-5865C>G) c.1585-1508C>G (n.1585-1508C>G) | |
21 | g.45504477G>T | CA410499211 | COL18A1,SLC19A1 | c.3329G>T (p.Gly1110Val) c.2789G>T (p.Gly930Val) c.830G>T (p.Gly277Val) c.4034G>T (p.Gly1345Val) c.498-5865C>A c.1294-5865C>A (n.1294-5865C>A) c.1585-1508C>A (n.1585-1508C>A) | |
21 | g.45504478C>A | CA512687145 | COL18A1,SLC19A1 | c.3330C>A (p.Gly1110=) c.2790C>A (p.Gly930=) c.831C>A (p.Gly277=) c.4035C>A (p.Gly1345=) c.498-5866G>T c.1294-5866G>T (n.1294-5866G>T) c.1585-1509G>T (n.1585-1509G>T) | |
21 | g.45504478C= | CA2392190700 | COL18A1,SLC19A1 | c.3330C= (p.Gly1110=) c.2790C= (p.Gly930=) c.831C= (p.Gly277=) c.4035C= (p.Gly1345=) c.498-5866G= c.1294-5866G= (n.1294-5866G=) c.1585-1509G= (n.1585-1509G=) | |
21 | g.45504478C>G | CA512687144 | COL18A1,SLC19A1 | c.3330C>G (p.Gly1110=) c.2790C>G (p.Gly930=) c.831C>G (p.Gly277=) c.4035C>G (p.Gly1345=) c.498-5866G>C c.1294-5866G>C (n.1294-5866G>C) c.1585-1509G>C (n.1585-1509G>C) | dbSNP |
21 | g.45504478C>T | CA10067471 | COL18A1,SLC19A1 | c.3330C>T (p.Gly1110=) c.2790C>T (p.Gly930=) c.831C>T (p.Gly277=) c.4035C>T (p.Gly1345=) c.498-5866G>A c.1294-5866G>A (n.1294-5866G>A) c.1585-1509G>A (n.1585-1509G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.45504479G>A | CA10067472 | COL18A1,SLC19A1 | c.3331G>A (p.Gly1111Ser) c.2791G>A (p.Gly931Ser) c.832G>A (p.Gly278Ser) c.4036G>A (p.Gly1346Ser) c.498-5867C>T c.1294-5867C>T (n.1294-5867C>T) c.1585-1510C>T (n.1585-1510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504479G>C | CA410499212 | COL18A1,SLC19A1 | c.3331G>C (p.Gly1111Arg) c.2791G>C (p.Gly931Arg) c.832G>C (p.Gly278Arg) c.4036G>C (p.Gly1346Arg) c.498-5867C>G c.1294-5867C>G (n.1294-5867C>G) c.1585-1510C>G (n.1585-1510C>G) | |
21 | g.45504479G= | CA2392190701 | COL18A1,SLC19A1 | c.3331G= (p.Gly1111=) c.2791G= (p.Gly931=) c.832G= (p.Gly278=) c.4036G= (p.Gly1346=) c.498-5867C= c.1294-5867C= (n.1294-5867C=) c.1585-1510C= (n.1585-1510C=) | |
21 | g.45504479G>T | CA410499213 | COL18A1,SLC19A1 | c.3331G>T (p.Gly1111Cys) c.2791G>T (p.Gly931Cys) c.832G>T (p.Gly278Cys) c.4036G>T (p.Gly1346Cys) c.498-5867C>A c.1294-5867C>A (n.1294-5867C>A) c.1585-1510C>A (n.1585-1510C>A) | |
21 | g.45504480G>A | CA410499214 | COL18A1,SLC19A1 | c.3332G>A (p.Gly1111Asp) c.2792G>A (p.Gly931Asp) c.833G>A (p.Gly278Asp) c.4037G>A (p.Gly1346Asp) c.498-5868C>T c.1294-5868C>T (n.1294-5868C>T) c.1585-1511C>T (n.1585-1511C>T) | |
21 | g.45504480G>C | CA410499215 | COL18A1,SLC19A1 | c.3332G>C (p.Gly1111Ala) c.2792G>C (p.Gly931Ala) c.833G>C (p.Gly278Ala) c.4037G>C (p.Gly1346Ala) c.498-5868C>G c.1294-5868C>G (n.1294-5868C>G) c.1585-1511C>G (n.1585-1511C>G) | |
21 | g.45504480G>T | CA410499216 | COL18A1,SLC19A1 | c.3332G>T (p.Gly1111Val) c.2792G>T (p.Gly931Val) c.833G>T (p.Gly278Val) c.4037G>T (p.Gly1346Val) c.498-5868C>A c.1294-5868C>A (n.1294-5868C>A) c.1585-1511C>A (n.1585-1511C>A) | gnomAD v4 |
21 | g.45504481T>A | CA512687147 | COL18A1,SLC19A1 | c.3333T>A (p.Gly1111=) c.2793T>A (p.Gly931=) c.834T>A (p.Gly278=) c.4038T>A (p.Gly1346=) c.498-5869A>T c.1294-5869A>T (n.1294-5869A>T) c.1585-1512A>T (n.1585-1512A>T) | |
21 | g.45504481T>C | CA512687146 | COL18A1,SLC19A1 | c.3333T>C (p.Gly1111=) c.2793T>C (p.Gly931=) c.834T>C (p.Gly278=) c.4038T>C (p.Gly1346=) c.498-5869A>G c.1294-5869A>G (n.1294-5869A>G) c.1585-1512A>G (n.1585-1512A>G) | ClinVar dbSNP gnomAD v4 |
21 | g.45504481T>G | CA512687148 | COL18A1,SLC19A1 | c.3333T>G (p.Gly1111=) c.2793T>G (p.Gly931=) c.834T>G (p.Gly278=) c.4038T>G (p.Gly1346=) c.498-5869A>C c.1294-5869A>C (n.1294-5869A>C) c.1585-1512A>C (n.1585-1512A>C) | dbSNP |
21 | g.45504481T= | CA2392190702 | COL18A1,SLC19A1 | c.3333T= (p.Gly1111=) c.2793T= (p.Gly931=) c.834T= (p.Gly278=) c.4038T= (p.Gly1346=) c.498-5869A= c.1294-5869A= (n.1294-5869A=) c.1585-1512A= (n.1585-1512A=) | |
21 | g.45504482T>A | CA410499217 | COL18A1,SLC19A1 | c.3334T>A (p.Phe1112Ile) c.2794T>A (p.Phe932Ile) c.835T>A (p.Phe279Ile) c.4039T>A (p.Phe1347Ile) c.498-5870A>T c.1294-5870A>T (n.1294-5870A>T) c.1585-1513A>T (n.1585-1513A>T) | |
21 | g.45504482T>C | CA410499218 | COL18A1,SLC19A1 | c.3334T>C (p.Phe1112Leu) c.2794T>C (p.Phe932Leu) c.835T>C (p.Phe279Leu) c.4039T>C (p.Phe1347Leu) c.498-5870A>G c.1294-5870A>G (n.1294-5870A>G) c.1585-1513A>G (n.1585-1513A>G) | |
21 | g.45504482T>G | CA410499219 | COL18A1,SLC19A1 | c.3334T>G (p.Phe1112Val) c.2794T>G (p.Phe932Val) c.835T>G (p.Phe279Val) c.4039T>G (p.Phe1347Val) c.498-5870A>C c.1294-5870A>C (n.1294-5870A>C) c.1585-1513A>C (n.1585-1513A>C) | |
21 | g.45504483T>A | CA410499220 | COL18A1,SLC19A1 | c.3335T>A (p.Phe1112Tyr) c.2795T>A (p.Phe932Tyr) c.836T>A (p.Phe279Tyr) c.4040T>A (p.Phe1347Tyr) c.498-5871A>T c.1294-5871A>T (n.1294-5871A>T) c.1585-1514A>T (n.1585-1514A>T) | |
21 | g.45504483T>C | CA410499221 | COL18A1,SLC19A1 | c.3335T>C (p.Phe1112Ser) c.2795T>C (p.Phe932Ser) c.836T>C (p.Phe279Ser) c.4040T>C (p.Phe1347Ser) c.498-5871A>G c.1294-5871A>G (n.1294-5871A>G) c.1585-1514A>G (n.1585-1514A>G) | |
21 | g.45504483T>G | CA410499222 | COL18A1,SLC19A1 | c.3335T>G (p.Phe1112Cys) c.2795T>G (p.Phe932Cys) c.836T>G (p.Phe279Cys) c.4040T>G (p.Phe1347Cys) c.498-5871A>C c.1294-5871A>C (n.1294-5871A>C) c.1585-1514A>C (n.1585-1514A>C) | dbSNP |
21 | g.45504483T= | CA2392190703 | COL18A1,SLC19A1 | c.3335T= (p.Phe1112=) c.2795T= (p.Phe932=) c.836T= (p.Phe279=) c.4040T= (p.Phe1347=) c.498-5871A= c.1294-5871A= (n.1294-5871A=) c.1585-1514A= (n.1585-1514A=) | |
21 | g.45504484C>A | CA410499223 | COL18A1,SLC19A1 | c.3336C>A (p.Phe1112Leu) c.2796C>A (p.Phe932Leu) c.837C>A (p.Phe279Leu) c.4041C>A (p.Phe1347Leu) c.498-5872G>T c.1294-5872G>T (n.1294-5872G>T) c.1585-1515G>T (n.1585-1515G>T) | |
21 | g.45504484C= | CA2392190704 | COL18A1,SLC19A1 | c.3336C= (p.Phe1112=) c.2796C= (p.Phe932=) c.837C= (p.Phe279=) c.4041C= (p.Phe1347=) c.498-5872G= c.1294-5872G= (n.1294-5872G=) c.1585-1515G= (n.1585-1515G=) | |
21 | g.45504484C>G | CA410499224 | COL18A1,SLC19A1 | c.3336C>G (p.Phe1112Leu) c.2796C>G (p.Phe932Leu) c.837C>G (p.Phe279Leu) c.4041C>G (p.Phe1347Leu) c.498-5872G>C c.1294-5872G>C (n.1294-5872G>C) c.1585-1515G>C (n.1585-1515G>C) | gnomAD v4 |
21 | g.45504484C>T | CA512687149 | COL18A1,SLC19A1 | c.3336C>T (p.Phe1112=) c.2796C>T (p.Phe932=) c.837C>T (p.Phe279=) c.4041C>T (p.Phe1347=) c.498-5872G>A c.1294-5872G>A (n.1294-5872G>A) c.1585-1515G>A (n.1585-1515G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504485T>A | CA410499227 | COL18A1,SLC19A1 | c.3337T>A (p.Phe1113Ile) c.2797T>A (p.Phe933Ile) c.838T>A (p.Phe280Ile) c.4042T>A (p.Phe1348Ile) c.498-5873A>T c.1294-5873A>T (n.1294-5873A>T) c.1585-1516A>T (n.1585-1516A>T) | |
21 | g.45504485T>C | CA410499226 | COL18A1,SLC19A1 | c.3337T>C (p.Phe1113Leu) c.2797T>C (p.Phe933Leu) c.838T>C (p.Phe280Leu) c.4042T>C (p.Phe1348Leu) c.498-5873A>G c.1294-5873A>G (n.1294-5873A>G) c.1585-1516A>G (n.1585-1516A>G) | ClinVar gnomAD v4 |
21 | g.45504485T>G | CA410499225 | COL18A1,SLC19A1 | c.3337T>G (p.Phe1113Val) c.2797T>G (p.Phe933Val) c.838T>G (p.Phe280Val) c.4042T>G (p.Phe1348Val) c.498-5873A>C c.1294-5873A>C (n.1294-5873A>C) c.1585-1516A>C (n.1585-1516A>C) | |
21 | g.45504486T>A | CA410499228 | COL18A1,SLC19A1 | c.3338T>A (p.Phe1113Tyr) c.2798T>A (p.Phe933Tyr) c.839T>A (p.Phe280Tyr) c.4043T>A (p.Phe1348Tyr) c.498-5874A>T c.1294-5874A>T (n.1294-5874A>T) c.1585-1517A>T (n.1585-1517A>T) | |
21 | g.45504486T>C | CA410499229 | COL18A1,SLC19A1 | c.3338T>C (p.Phe1113Ser) c.2798T>C (p.Phe933Ser) c.839T>C (p.Phe280Ser) c.4043T>C (p.Phe1348Ser) c.498-5874A>G c.1294-5874A>G (n.1294-5874A>G) c.1585-1517A>G (n.1585-1517A>G) | |
21 | g.45504486T>G | CA410499230 | COL18A1,SLC19A1 | c.3338T>G (p.Phe1113Cys) c.2798T>G (p.Phe933Cys) c.839T>G (p.Phe280Cys) c.4043T>G (p.Phe1348Cys) c.498-5874A>C c.1294-5874A>C (n.1294-5874A>C) c.1585-1517A>C (n.1585-1517A>C) | |
21 | g.45504487C>A | CA410499231 | COL18A1,SLC19A1 | c.3339C>A (p.Phe1113Leu) c.2799C>A (p.Phe933Leu) c.840C>A (p.Phe280Leu) c.4044C>A (p.Phe1348Leu) c.498-5875G>T c.1294-5875G>T (n.1294-5875G>T) c.1585-1518G>T (n.1585-1518G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504487C= | CA2392190705 | COL18A1,SLC19A1 | c.3339C= (p.Phe1113=) c.2799C= (p.Phe933=) c.840C= (p.Phe280=) c.4044C= (p.Phe1348=) c.498-5875G= c.1294-5875G= (n.1294-5875G=) c.1585-1518G= (n.1585-1518G=) | |
21 | g.45504487C>G | CA410499232 | COL18A1,SLC19A1 | c.3339C>G (p.Phe1113Leu) c.2799C>G (p.Phe933Leu) c.840C>G (p.Phe280Leu) c.4044C>G (p.Phe1348Leu) c.498-5875G>C c.1294-5875G>C (n.1294-5875G>C) c.1585-1518G>C (n.1585-1518G>C) | |
21 | g.45504487C>T | CA10067473 | COL18A1,SLC19A1 | c.3339C>T (p.Phe1113=) c.2799C>T (p.Phe933=) c.840C>T (p.Phe280=) c.4044C>T (p.Phe1348=) c.498-5875G>A c.1294-5875G>A (n.1294-5875G>A) c.1585-1518G>A (n.1585-1518G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.45504488G>A | CA10067474 | COL18A1,SLC19A1 | c.3340G>A (p.Gly1114Ser) c.2800G>A (p.Gly934Ser) c.841G>A (p.Gly281Ser) c.4045G>A (p.Gly1349Ser) c.498-5876C>T c.1294-5876C>T (n.1294-5876C>T) c.1585-1519C>T (n.1585-1519C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.45504488G>C | CA410499233 | COL18A1,SLC19A1 | c.3340G>C (p.Gly1114Arg) c.2800G>C (p.Gly934Arg) c.841G>C (p.Gly281Arg) c.4045G>C (p.Gly1349Arg) c.498-5876C>G c.1294-5876C>G (n.1294-5876C>G) c.1585-1519C>G (n.1585-1519C>G) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504488G= | CA2392190706 | COL18A1,SLC19A1 | c.3340G= (p.Gly1114=) c.2800G= (p.Gly934=) c.841G= (p.Gly281=) c.4045G= (p.Gly1349=) c.498-5876C= c.1294-5876C= (n.1294-5876C=) c.1585-1519C= (n.1585-1519C=) | |
21 | g.45504488G>T | CA410499234 | COL18A1,SLC19A1 | c.3340G>T (p.Gly1114Cys) c.2800G>T (p.Gly934Cys) c.841G>T (p.Gly281Cys) c.4045G>T (p.Gly1349Cys) c.498-5876C>A c.1294-5876C>A (n.1294-5876C>A) c.1585-1519C>A (n.1585-1519C>A) | dbSNP gnomAD v4 |
21 | g.45504489G>A | CA321921212 | COL18A1,SLC19A1 | c.3341G>A (p.Gly1114Asp) c.2801G>A (p.Gly934Asp) c.842G>A (p.Gly281Asp) c.4046G>A (p.Gly1349Asp) c.498-5877C>T c.1294-5877C>T (n.1294-5877C>T) c.1585-1520C>T (n.1585-1520C>T) | dbSNP gnomAD v4 |
21 | g.45504489G>C | CA410499235 | COL18A1,SLC19A1 | c.3341G>C (p.Gly1114Ala) c.2801G>C (p.Gly934Ala) c.842G>C (p.Gly281Ala) c.4046G>C (p.Gly1349Ala) c.498-5877C>G c.1294-5877C>G (n.1294-5877C>G) c.1585-1520C>G (n.1585-1520C>G) | |
21 | g.45504489G= | CA2392190707 | COL18A1,SLC19A1 | c.3341G= (p.Gly1114=) c.2801G= (p.Gly934=) c.842G= (p.Gly281=) c.4046G= (p.Gly1349=) c.498-5877C= c.1294-5877C= (n.1294-5877C=) c.1585-1520C= (n.1585-1520C=) | |
21 | g.45504489G>T | CA410499236 | COL18A1,SLC19A1 | c.3341G>T (p.Gly1114Val) c.2801G>T (p.Gly934Val) c.842G>T (p.Gly281Val) c.4046G>T (p.Gly1349Val) c.498-5877C>A c.1294-5877C>A (n.1294-5877C>A) c.1585-1520C>A (n.1585-1520C>A) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504490C>A | CA512687150 | COL18A1,SLC19A1 | c.3342C>A (p.Gly1114=) c.2802C>A (p.Gly934=) c.843C>A (p.Gly281=) c.4047C>A (p.Gly1349=) c.498-5878G>T c.1294-5878G>T (n.1294-5878G>T) c.1585-1521G>T (n.1585-1521G>T) | gnomAD v4 |
21 | g.45504490C>G | CA512687151 | COL18A1,SLC19A1 | c.3342C>G (p.Gly1114=) c.2802C>G (p.Gly934=) c.843C>G (p.Gly281=) c.4047C>G (p.Gly1349=) c.498-5878G>C c.1294-5878G>C (n.1294-5878G>C) c.1585-1521G>C (n.1585-1521G>C) | |
21 | g.45504490C>T | CA512687152 | COL18A1,SLC19A1 | c.3342C>T (p.Gly1114=) c.2802C>T (p.Gly934=) c.843C>T (p.Gly281=) c.4047C>T (p.Gly1349=) c.498-5878G>A c.1294-5878G>A (n.1294-5878G>A) c.1585-1521G>A (n.1585-1521G>A) | gnomAD v4 |
21 | g.45504491T>A | CA410499238 | COL18A1,SLC19A1 | c.3343T>A (p.Ser1115Thr) c.2803T>A (p.Ser935Thr) c.844T>A (p.Ser282Thr) c.4048T>A (p.Ser1350Thr) c.498-5879A>T c.1294-5879A>T (n.1294-5879A>T) c.1585-1522A>T (n.1585-1522A>T) | |
21 | g.45504491T>C | CA410499239 | COL18A1,SLC19A1 | c.3343T>C (p.Ser1115Pro) c.2803T>C (p.Ser935Pro) c.844T>C (p.Ser282Pro) c.4048T>C (p.Ser1350Pro) c.498-5879A>G c.1294-5879A>G (n.1294-5879A>G) c.1585-1522A>G (n.1585-1522A>G) | gnomAD v4 |
21 | g.45504491T>G | CA410499237 | COL18A1,SLC19A1 | c.3343T>G (p.Ser1115Ala) c.2803T>G (p.Ser935Ala) c.844T>G (p.Ser282Ala) c.4048T>G (p.Ser1350Ala) c.498-5879A>C c.1294-5879A>C (n.1294-5879A>C) c.1585-1522A>C (n.1585-1522A>C) | |
21 | g.45504492C>A | CA410499240 | COL18A1,SLC19A1 | c.3344C>A (p.Ser1115Tyr) c.2804C>A (p.Ser935Tyr) c.845C>A (p.Ser282Tyr) c.4049C>A (p.Ser1350Tyr) c.498-5880G>T c.1294-5880G>T (n.1294-5880G>T) c.1585-1523G>T (n.1585-1523G>T) | gnomAD v4 |
21 | g.45504492C>G | CA410499241 | COL18A1,SLC19A1 | c.3344C>G (p.Ser1115Cys) c.2804C>G (p.Ser935Cys) c.845C>G (p.Ser282Cys) c.4049C>G (p.Ser1350Cys) c.498-5880G>C c.1294-5880G>C (n.1294-5880G>C) c.1585-1523G>C (n.1585-1523G>C) | |
21 | g.45504492C>T | CA410499242 | COL18A1,SLC19A1 | c.3344C>T (p.Ser1115Phe) c.2804C>T (p.Ser935Phe) c.845C>T (p.Ser282Phe) c.4049C>T (p.Ser1350Phe) c.498-5880G>A c.1294-5880G>A (n.1294-5880G>A) c.1585-1523G>A (n.1585-1523G>A) | |
21 | g.45504493del | CA2577627019 | COL18A1,SLC19A1 | c.3345del (p.Ser1116AlafsTer?) c.2805del (p.Ser936AlafsTer?) c.846del (p.Ser283AlafsTer?) c.4050del (p.Ser1351AlafsTer?) c.498-5880del c.1294-5880del (n.1294-5880del) c.1585-1523del (n.1585-1523del) | |
21 | g.45504493C>A | CA512687153 | COL18A1,SLC19A1 | c.3345C>A (p.Ser1115=) c.2805C>A (p.Ser935=) c.846C>A (p.Ser282=) c.4050C>A (p.Ser1350=) c.498-5881G>T c.1294-5881G>T (n.1294-5881G>T) c.1585-1524G>T (n.1585-1524G>T) | |
21 | g.45504493C= | CA2392190708 | COL18A1,SLC19A1 | c.3345C= (p.Ser1115=) c.2805C= (p.Ser935=) c.846C= (p.Ser282=) c.4050C= (p.Ser1350=) c.498-5881G= c.1294-5881G= (n.1294-5881G=) c.1585-1524G= (n.1585-1524G=) | |
21 | g.45504493C>G | CA512687154 | COL18A1,SLC19A1 | c.3345C>G (p.Ser1115=) c.2805C>G (p.Ser935=) c.846C>G (p.Ser282=) c.4050C>G (p.Ser1350=) c.498-5881G>C c.1294-5881G>C (n.1294-5881G>C) c.1585-1524G>C (n.1585-1524G>C) | |
21 | g.45504493C>T | CA10067475 | COL18A1,SLC19A1 | c.3345C>T (p.Ser1115=) c.2805C>T (p.Ser935=) c.846C>T (p.Ser282=) c.4050C>T (p.Ser1350=) c.498-5881G>A c.1294-5881G>A (n.1294-5881G>A) c.1585-1524G>A (n.1585-1524G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504494A= | CA2392190709 | COL18A1,SLC19A1 | c.3346A= (p.Ser1116=) c.2806A= (p.Ser936=) c.847A= (p.Ser283=) c.4051A= (p.Ser1351=) c.498-5882T= c.1294-5882T= (n.1294-5882T=) c.1585-1525T= (n.1585-1525T=) | |
21 | g.45504494A>C | CA410499243 | COL18A1,SLC19A1 | c.3346A>C (p.Ser1116Arg) c.2806A>C (p.Ser936Arg) c.847A>C (p.Ser283Arg) c.4051A>C (p.Ser1351Arg) c.498-5882T>G c.1294-5882T>G (n.1294-5882T>G) c.1585-1525T>G (n.1585-1525T>G) | |
21 | g.45504494A>G | CA410499244 | COL18A1,SLC19A1 | c.3346A>G (p.Ser1116Gly) c.2806A>G (p.Ser936Gly) c.847A>G (p.Ser283Gly) c.4051A>G (p.Ser1351Gly) c.498-5882T>C c.1294-5882T>C (n.1294-5882T>C) c.1585-1525T>C (n.1585-1525T>C) | |
21 | g.45504494A>T | CA410499245 | COL18A1,SLC19A1 | c.3346A>T (p.Ser1116Cys) c.2806A>T (p.Ser936Cys) c.847A>T (p.Ser283Cys) c.4051A>T (p.Ser1351Cys) c.498-5882T>A c.1294-5882T>A (n.1294-5882T>A) c.1585-1525T>A (n.1585-1525T>A) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504494_45504512delinsAGCCTGCCCGGCCCCCCCG | CA2392190710 | COL18A1,SLC19A1 | c.3346_3364delinsAGCCTGCCCGGCCCCCCCG (p.Ser1116=) c.2806_2824delinsAGCCTGCCCGGCCCCCCCG (p.Ser936=) c.847_865delinsAGCCTGCCCGGCCCCCCCG (p.Ser283=) c.4051_4069delinsAGCCTGCCCGGCCCCCCCG (p.Ser1351=) c.498-5900_498-5882delinsCGGGGGGGCCGGGCAGGCT c.1294-5900_1294-5882delinsCGGGGGGGCCGGGCAGGCT (n.1294-5900_1294-5882delinsCGGGGGGGCCGGGCAGGCT) c.1585-1543_1585-1525delinsCGGGGGGGCCGGGCAGGCT (n.1585-1543_1585-1525delinsCGGGGGGGCCGGGCAGGCT) | |
21 | g.45504495G>A | CA410499246 | COL18A1,SLC19A1 | c.3347G>A (p.Ser1116Asn) c.2807G>A (p.Ser936Asn) c.848G>A (p.Ser283Asn) c.4052G>A (p.Ser1351Asn) c.498-5883C>T c.1294-5883C>T (n.1294-5883C>T) c.1585-1526C>T (n.1585-1526C>T) | gnomAD v4 |
21 | g.45504495G>C | CA410499248 | COL18A1,SLC19A1 | c.3347G>C (p.Ser1116Thr) c.2807G>C (p.Ser936Thr) c.848G>C (p.Ser283Thr) c.4052G>C (p.Ser1351Thr) c.498-5883C>G c.1294-5883C>G (n.1294-5883C>G) c.1585-1526C>G (n.1585-1526C>G) | |
21 | g.45504495G>T | CA410499247 | COL18A1,SLC19A1 | c.3347G>T (p.Ser1116Ile) c.2807G>T (p.Ser936Ile) c.848G>T (p.Ser283Ile) c.4052G>T (p.Ser1351Ile) c.498-5883C>A c.1294-5883C>A (n.1294-5883C>A) c.1585-1526C>A (n.1585-1526C>A) | gnomAD v4 |
21 | g.45504498_45504506del | CA2577627021 | COL18A1,SLC19A1 | c.3350_3358del (p.Leu1117_Gly1119del) c.2810_2818del (p.Leu937_Gly939del) c.851_859del (p.Leu284_Gly286del) c.4055_4063del (p.Leu1352_Gly1354del) c.498-5891_498-5883del c.1294-5891_1294-5883del (n.1294-5891_1294-5883del) c.1585-1534_1585-1526del (n.1585-1534_1585-1526del) | ClinVar |
21 | g.45504498_45504515del | CA749787629 | COL18A1,SLC19A1 | c.3350_3367del (p.Leu1117_Gly1122del) c.2810_2827del (p.Leu937_Gly942del) c.851_868del (p.Leu284_Gly289del) c.4055_4072del (p.Leu1352_Gly1357del) c.498-5900_498-5883del c.1294-5900_1294-5883del (n.1294-5900_1294-5883del) c.1585-1543_1585-1526del (n.1585-1543_1585-1526del) | dbSNP |
21 | g.45504496C>A | CA10067476 | COL18A1,SLC19A1 | c.3348C>A (p.Ser1116Arg) c.2808C>A (p.Ser936Arg) c.849C>A (p.Ser283Arg) c.4053C>A (p.Ser1351Arg) c.498-5884G>T c.1294-5884G>T (n.1294-5884G>T) c.1585-1527G>T (n.1585-1527G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504496C= | CA2392190711 | COL18A1,SLC19A1 | c.3348C= (p.Ser1116=) c.2808C= (p.Ser936=) c.849C= (p.Ser283=) c.4053C= (p.Ser1351=) c.498-5884G= c.1294-5884G= (n.1294-5884G=) c.1585-1527G= (n.1585-1527G=) | |
21 | g.45504496C>G | CA410499249 | COL18A1,SLC19A1 | c.3348C>G (p.Ser1116Arg) c.2808C>G (p.Ser936Arg) c.849C>G (p.Ser283Arg) c.4053C>G (p.Ser1351Arg) c.498-5884G>C c.1294-5884G>C (n.1294-5884G>C) c.1585-1527G>C (n.1585-1527G>C) | ClinVar dbSNP |
21 | g.45504496C>T | CA512687155 | COL18A1,SLC19A1 | c.3348C>T (p.Ser1116=) c.2808C>T (p.Ser936=) c.849C>T (p.Ser283=) c.4053C>T (p.Ser1351=) c.498-5884G>A c.1294-5884G>A (n.1294-5884G>A) c.1585-1527G>A (n.1585-1527G>A) | gnomAD v4 |
21 | g.45504497del | CA2654918151 | COL18A1,SLC19A1 | c.3349del (p.Leu1117CysfsTer?) c.2809del (p.Leu937CysfsTer?) c.850del (p.Leu284CysfsTer?) c.4054del (p.Leu1352CysfsTer?) c.498-5884del c.1294-5884del (n.1294-5884del) c.1585-1527del (n.1585-1527del) | gnomAD v4 |
21 | g.45504497C>A | CA410499250 | COL18A1,SLC19A1 | c.3349C>A (p.Leu1117Met) c.2809C>A (p.Leu937Met) c.850C>A (p.Leu284Met) c.4054C>A (p.Leu1352Met) c.498-5885G>T c.1294-5885G>T (n.1294-5885G>T) c.1585-1528G>T (n.1585-1528G>T) | gnomAD v4 |
21 | g.45504497C= | CA2392190713 | COL18A1,SLC19A1 | c.3349C= (p.Leu1117=) c.2809C= (p.Leu937=) c.850C= (p.Leu284=) c.4054C= (p.Leu1352=) c.498-5885G= c.1294-5885G= (n.1294-5885G=) c.1585-1528G= (n.1585-1528G=) | |
21 | g.45504497C>G | CA410499251 | COL18A1,SLC19A1 | c.3349C>G (p.Leu1117Val) c.2809C>G (p.Leu937Val) c.850C>G (p.Leu284Val) c.4054C>G (p.Leu1352Val) c.498-5885G>C c.1294-5885G>C (n.1294-5885G>C) c.1585-1528G>C (n.1585-1528G>C) | |
21 | g.45504497C>T | CA512687156 | COL18A1,SLC19A1 | c.3349C>T (p.Leu1117=) c.2809C>T (p.Leu937=) c.850C>T (p.Leu284=) c.4054C>T (p.Leu1352=) c.498-5885G>A c.1294-5885G>A (n.1294-5885G>A) c.1585-1528G>A (n.1585-1528G>A) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504497_45504504delinsCTGCCCGG | CA2392190712 | COL18A1,SLC19A1 | c.3349_3356delinsCTGCCCGG (p.Leu1117=) c.2809_2816delinsCTGCCCGG (p.Leu937=) c.850_857delinsCTGCCCGG (p.Leu284=) c.4054_4061delinsCTGCCCGG (p.Leu1352=) c.498-5892_498-5885delinsCCGGGCAG c.1294-5892_1294-5885delinsCCGGGCAG (n.1294-5892_1294-5885delinsCCGGGCAG) c.1585-1535_1585-1528delinsCCGGGCAG (n.1585-1535_1585-1528delinsCCGGGCAG) | |
21 | g.45504498T>A | CA410499252 | COL18A1,SLC19A1 | c.3350T>A (p.Leu1117Gln) c.2810T>A (p.Leu937Gln) c.851T>A (p.Leu284Gln) c.4055T>A (p.Leu1352Gln) c.498-5886A>T c.1294-5886A>T (n.1294-5886A>T) c.1585-1529A>T (n.1585-1529A>T) | |
21 | g.45504498T>C | CA410499254 | COL18A1,SLC19A1 | c.3350T>C (p.Leu1117Pro) c.2810T>C (p.Leu937Pro) c.851T>C (p.Leu284Pro) c.4055T>C (p.Leu1352Pro) c.498-5886A>G c.1294-5886A>G (n.1294-5886A>G) c.1585-1529A>G (n.1585-1529A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504498T>G | CA410499253 | COL18A1,SLC19A1 | c.3350T>G (p.Leu1117Arg) c.2810T>G (p.Leu937Arg) c.851T>G (p.Leu284Arg) c.4055T>G (p.Leu1352Arg) c.498-5886A>C c.1294-5886A>C (n.1294-5886A>C) c.1585-1529A>C (n.1585-1529A>C) | |
21 | g.45504498T= | CA2392190714 | COL18A1,SLC19A1 | c.3350T= (p.Leu1117=) c.2810T= (p.Leu937=) c.851T= (p.Leu284=) c.4055T= (p.Leu1352=) c.498-5886A= c.1294-5886A= (n.1294-5886A=) c.1585-1529A= (n.1585-1529A=) | |
21 | g.45504498dup | CA2654918157 | COL18A1,SLC19A1 | c.3350dup (p.Pro1118AlafsTer?) c.2810dup (p.Pro938AlafsTer?) c.851dup (p.Pro285AlafsTer?) c.4055dup (p.Pro1353AlafsTer?) c.498-5886dup c.1294-5886dup (n.1294-5886dup) c.1585-1529dup (n.1585-1529dup) | gnomAD v4 |
21 | g.45504498_45504504del | CA638497336 | COL18A1,SLC19A1 | c.3350_3356del (p.Leu1117ProfsTer?) c.2810_2816del (p.Leu937ProfsTer?) c.851_857del (p.Leu284ProfsTer?) c.4055_4061del (p.Leu1352ProfsTer?) c.498-5892_498-5886del c.1294-5892_1294-5886del (n.1294-5892_1294-5886del) c.1585-1535_1585-1529del (n.1585-1535_1585-1529del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504499G>A | CA10067478 | COL18A1,SLC19A1 | c.3351G>A (p.Leu1117=) c.2811G>A (p.Leu937=) c.852G>A (p.Leu284=) c.4056G>A (p.Leu1352=) c.498-5887C>T c.1294-5887C>T (n.1294-5887C>T) c.1585-1530C>T (n.1585-1530C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504499G>C | CA512687157 | COL18A1,SLC19A1 | c.3351G>C (p.Leu1117=) c.2811G>C (p.Leu937=) c.852G>C (p.Leu284=) c.4056G>C (p.Leu1352=) c.498-5887C>G c.1294-5887C>G (n.1294-5887C>G) c.1585-1530C>G (n.1585-1530C>G) | |
21 | g.45504499G= | CA2392190715 | COL18A1,SLC19A1 | c.3351G= (p.Leu1117=) c.2811G= (p.Leu937=) c.852G= (p.Leu284=) c.4056G= (p.Leu1352=) c.498-5887C= c.1294-5887C= (n.1294-5887C=) c.1585-1530C= (n.1585-1530C=) | |
21 | g.45504499G>T | CA512687158 | COL18A1,SLC19A1 | c.3351G>T (p.Leu1117=) c.2811G>T (p.Leu937=) c.852G>T (p.Leu284=) c.4056G>T (p.Leu1352=) c.498-5887C>A c.1294-5887C>A (n.1294-5887C>A) c.1585-1530C>A (n.1585-1530C>A) | |
21 | g.45504499_45504508delinsGCCCGGCCCC | CA2392190716 | COL18A1,SLC19A1 | c.3351_3360delinsGCCCGGCCCC (p.Leu1117=) c.2811_2820delinsGCCCGGCCCC (p.Leu937=) c.852_861delinsGCCCGGCCCC (p.Leu284=) c.4056_4065delinsGCCCGGCCCC (p.Leu1352=) c.498-5896_498-5887delinsGGGGCCGGGC c.1294-5896_1294-5887delinsGGGGCCGGGC (n.1294-5896_1294-5887delinsGGGGCCGGGC) c.1585-1539_1585-1530delinsGGGGCCGGGC (n.1585-1539_1585-1530delinsGGGGCCGGGC) | |
21 | g.45504500C>A | CA410499255 | COL18A1,SLC19A1 | c.3352C>A (p.Pro1118Thr) c.2812C>A (p.Pro938Thr) c.853C>A (p.Pro285Thr) c.4057C>A (p.Pro1353Thr) c.498-5888G>T c.1294-5888G>T (n.1294-5888G>T) c.1585-1531G>T (n.1585-1531G>T) | dbSNP gnomAD v4 |
21 | g.45504500C= | CA2392190717 | COL18A1,SLC19A1 | c.3352C= (p.Pro1118=) c.2812C= (p.Pro938=) c.853C= (p.Pro285=) c.4057C= (p.Pro1353=) c.498-5888G= c.1294-5888G= (n.1294-5888G=) c.1585-1531G= (n.1585-1531G=) | |
21 | g.45504500C>G | CA410499256 | COL18A1,SLC19A1 | c.3352C>G (p.Pro1118Ala) c.2812C>G (p.Pro938Ala) c.853C>G (p.Pro285Ala) c.4057C>G (p.Pro1353Ala) c.498-5888G>C c.1294-5888G>C (n.1294-5888G>C) c.1585-1531G>C (n.1585-1531G>C) | |
21 | g.45504500C>T | CA10067479 | COL18A1,SLC19A1 | c.3352C>T (p.Pro1118Ser) c.2812C>T (p.Pro938Ser) c.853C>T (p.Pro285Ser) c.4057C>T (p.Pro1353Ser) c.498-5888G>A c.1294-5888G>A (n.1294-5888G>A) c.1585-1531G>A (n.1585-1531G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504511_45504519del | CA10067477 | COL18A1,SLC19A1 | c.3363_3371del (p.Gly1122_Pro1124del) c.2823_2831del (p.Gly942_Pro944del) c.864_872del (p.Gly289_Pro291del) c.4068_4076del (p.Gly1357_Pro1359del) c.498-5896_498-5888del c.1294-5896_1294-5888del (n.1294-5896_1294-5888del) c.1585-1539_1585-1531del (n.1585-1539_1585-1531del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504501C>A | CA410499257 | COL18A1,SLC19A1 | c.3353C>A (p.Pro1118His) c.2813C>A (p.Pro938His) c.854C>A (p.Pro285His) c.4058C>A (p.Pro1353His) c.498-5889G>T c.1294-5889G>T (n.1294-5889G>T) c.1585-1532G>T (n.1585-1532G>T) | |
21 | g.45504501C= | CA2392190718 | COL18A1,SLC19A1 | c.3353C= (p.Pro1118=) c.2813C= (p.Pro938=) c.854C= (p.Pro285=) c.4058C= (p.Pro1353=) c.498-5889G= c.1294-5889G= (n.1294-5889G=) c.1585-1532G= (n.1585-1532G=) | |
21 | g.45504501C>G | CA410499258 | COL18A1,SLC19A1 | c.3353C>G (p.Pro1118Arg) c.2813C>G (p.Pro938Arg) c.854C>G (p.Pro285Arg) c.4058C>G (p.Pro1353Arg) c.498-5889G>C c.1294-5889G>C (n.1294-5889G>C) c.1585-1532G>C (n.1585-1532G>C) | ClinVar dbSNP |
21 | g.45504501C>T | CA410499259 | COL18A1,SLC19A1 | c.3353C>T (p.Pro1118Leu) c.2813C>T (p.Pro938Leu) c.854C>T (p.Pro285Leu) c.4058C>T (p.Pro1353Leu) c.498-5889G>A c.1294-5889G>A (n.1294-5889G>A) c.1585-1532G>A (n.1585-1532G>A) | |
21 | g.45504502C>A | CA512687160 | COL18A1,SLC19A1 | c.3354C>A (p.Pro1118=) c.2814C>A (p.Pro938=) c.855C>A (p.Pro285=) c.4059C>A (p.Pro1353=) c.498-5890G>T c.1294-5890G>T (n.1294-5890G>T) c.1585-1533G>T (n.1585-1533G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504502C= | CA2392190719 | COL18A1,SLC19A1 | c.3354C= (p.Pro1118=) c.2814C= (p.Pro938=) c.855C= (p.Pro285=) c.4059C= (p.Pro1353=) c.498-5890G= c.1294-5890G= (n.1294-5890G=) c.1585-1533G= (n.1585-1533G=) | |
21 | g.45504502C>G | CA512687159 | COL18A1,SLC19A1 | c.3354C>G (p.Pro1118=) c.2814C>G (p.Pro938=) c.855C>G (p.Pro285=) c.4059C>G (p.Pro1353=) c.498-5890G>C c.1294-5890G>C (n.1294-5890G>C) c.1585-1533G>C (n.1585-1533G>C) | ClinVar dbSNP gnomAD v4 |
21 | g.45504502C>T | CA10067481 | COL18A1,SLC19A1 | c.3354C>T (p.Pro1118=) c.2814C>T (p.Pro938=) c.855C>T (p.Pro285=) c.4059C>T (p.Pro1353=) c.498-5890G>A c.1294-5890G>A (n.1294-5890G>A) c.1585-1533G>A (n.1585-1533G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.45504502_45504520delinsCGGCCCCCCCGGCCCCCCA | CA2392190720 | COL18A1,SLC19A1 | c.3354_3372delinsCGGCCCCCCCGGCCCCCCA (p.Pro1118=) c.2814_2832delinsCGGCCCCCCCGGCCCCCCA (p.Pro938=) c.855_873delinsCGGCCCCCCCGGCCCCCCA (p.Pro285=) c.4059_4077delinsCGGCCCCCCCGGCCCCCCA (p.Pro1353=) c.498-5908_498-5890delinsTGGGGGGCCGGGGGGGCCG c.1294-5908_1294-5890delinsTGGGGGGCCGGGGGGGCCG (n.1294-5908_1294-5890delinsTGGGGGGCCGGGGGGGCCG) c.1585-1551_1585-1533delinsTGGGGGGCCGGGGGGGCCG (n.1585-1551_1585-1533delinsTGGGGGGCCGGGGGGGCCG) | |
21 | g.45504503G>A | CA10067482 | COL18A1,SLC19A1 | c.3355G>A (p.Gly1119Ser) c.2815G>A (p.Gly939Ser) c.856G>A (p.Gly286Ser) c.4060G>A (p.Gly1354Ser) c.498-5891C>T c.1294-5891C>T (n.1294-5891C>T) c.1585-1534C>T (n.1585-1534C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504503G>C | CA410499261 | COL18A1,SLC19A1 | c.3355G>C (p.Gly1119Arg) c.2815G>C (p.Gly939Arg) c.856G>C (p.Gly286Arg) c.4060G>C (p.Gly1354Arg) c.498-5891C>G c.1294-5891C>G (n.1294-5891C>G) c.1585-1534C>G (n.1585-1534C>G) | |
21 | g.45504503G= | CA2392190721 | COL18A1,SLC19A1 | c.3355G= (p.Gly1119=) c.2815G= (p.Gly939=) c.856G= (p.Gly286=) c.4060G= (p.Gly1354=) c.498-5891C= c.1294-5891C= (n.1294-5891C=) c.1585-1534C= (n.1585-1534C=) | |
21 | g.45504503G>T | CA410499260 | COL18A1,SLC19A1 | c.3355G>T (p.Gly1119Cys) c.2815G>T (p.Gly939Cys) c.856G>T (p.Gly286Cys) c.4060G>T (p.Gly1354Cys) c.498-5891C>A c.1294-5891C>A (n.1294-5891C>A) c.1585-1534C>A (n.1585-1534C>A) | |
21 | g.45504511_45504528del | CA10067480 | COL18A1,SLC19A1 | c.3363_3380del (p.Gly1122_Pro1127del) c.2823_2840del (p.Gly942_Pro947del) c.864_881del (p.Gly289_Pro294del) c.4068_4085del (p.Gly1357_Pro1362del) c.498-5908_498-5891del c.1294-5908_1294-5891del (n.1294-5908_1294-5891del) c.1585-1551_1585-1534del (n.1585-1551_1585-1534del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.45504504G>A | CA410499262 | COL18A1,SLC19A1 | c.3356G>A (p.Gly1119Asp) c.2816G>A (p.Gly939Asp) c.857G>A (p.Gly286Asp) c.4061G>A (p.Gly1354Asp) c.498-5892C>T c.1294-5892C>T (n.1294-5892C>T) c.1585-1535C>T (n.1585-1535C>T) | gnomAD v2 gnomAD v4 |
21 | g.45504504G>C | CA410499263 | COL18A1,SLC19A1 | c.3356G>C (p.Gly1119Ala) c.2816G>C (p.Gly939Ala) c.857G>C (p.Gly286Ala) c.4061G>C (p.Gly1354Ala) c.498-5892C>G c.1294-5892C>G (n.1294-5892C>G) c.1585-1535C>G (n.1585-1535C>G) | gnomAD v3 gnomAD v4 |
21 | g.45504504G>T | CA410499264 | COL18A1,SLC19A1 | c.3356G>T (p.Gly1119Val) c.2816G>T (p.Gly939Val) c.857G>T (p.Gly286Val) c.4061G>T (p.Gly1354Val) c.498-5892C>A c.1294-5892C>A (n.1294-5892C>A) c.1585-1535C>A (n.1585-1535C>A) | |
21 | g.45504504_45504505delinsGC | CA2392190722 | COL18A1,SLC19A1 | c.3356_3357delinsGC (p.Gly1119=) c.2816_2817delinsGC (p.Gly939=) c.857_858delinsGC (p.Gly286=) c.4061_4062delinsGC (p.Gly1354=) c.498-5893_498-5892delinsGC c.1294-5893_1294-5892delinsGC (n.1294-5893_1294-5892delinsGC) c.1585-1536_1585-1535delinsGC (n.1585-1536_1585-1535delinsGC) | |
21 | g.45504505_45504512del | CA2654918203 | COL18A1,SLC19A1 | c.3357_3364del (p.Gly1122ArgfsTer?) c.2817_2824del (p.Gly942ArgfsTer?) c.858_865del (p.Gly289ArgfsTer?) c.4062_4069del (p.Gly1357ArgfsTer?) c.498-5899_498-5892del c.1294-5899_1294-5892del (n.1294-5899_1294-5892del) c.1585-1542_1585-1535del (n.1585-1542_1585-1535del) | gnomAD v4 |
21 | g.45504504_45504505insT | CA2573334926 | COL18A1,SLC19A1 | c.3356_3357insT (p.Gly1122ArgfsTer?) c.2816_2817insT (p.Gly942ArgfsTer?) c.857_858insT (p.Gly289ArgfsTer?) c.4061_4062insT (p.Gly1357ArgfsTer?) c.498-5893_498-5892insA c.1294-5893_1294-5892insA (n.1294-5893_1294-5892insA) c.1585-1536_1585-1535insA (n.1585-1536_1585-1535insA) | |
21 | g.45504505C>A | CA512687161 | COL18A1,SLC19A1 | c.3357C>A (p.Gly1119=) c.2817C>A (p.Gly939=) c.858C>A (p.Gly286=) c.4062C>A (p.Gly1354=) c.498-5893G>T c.1294-5893G>T (n.1294-5893G>T) c.1585-1536G>T (n.1585-1536G>T) | gnomAD v4 |
21 | g.45504505C= | CA2392190725 | COL18A1,SLC19A1 | c.3357C= (p.Gly1119=) c.2817C= (p.Gly939=) c.858C= (p.Gly286=) c.4062C= (p.Gly1354=) c.498-5893G= c.1294-5893G= (n.1294-5893G=) c.1585-1536G= (n.1585-1536G=) | |
21 | g.45504505C>G | CA512687162 | COL18A1,SLC19A1 | c.3357C>G (p.Gly1119=) c.2817C>G (p.Gly939=) c.858C>G (p.Gly286=) c.4062C>G (p.Gly1354=) c.498-5893G>C c.1294-5893G>C (n.1294-5893G>C) c.1585-1536G>C (n.1585-1536G>C) | |
21 | g.45504505C>T | CA321921213 | COL18A1,SLC19A1 | c.3357C>T (p.Gly1119=) c.2817C>T (p.Gly939=) c.858C>T (p.Gly286=) c.4062C>T (p.Gly1354=) c.498-5893G>A c.1294-5893G>A (n.1294-5893G>A) c.1585-1536G>A (n.1585-1536G>A) | ClinVar dbSNP gnomAD v4 |
21 | g.45504511dup | CA10575533 | COL18A1,SLC19A1 | c.3363dup (p.Gly1122ArgfsTer?) c.2823dup (p.Gly942ArgfsTer?) c.864dup (p.Gly289ArgfsTer?) c.4068dup (p.Gly1357ArgfsTer?) c.498-5893dup c.1294-5893dup (n.1294-5893dup) c.1585-1536dup (n.1585-1536dup) | ClinVar dbSNP |
21 | g.45504511del | CA10067483 | COL18A1,SLC19A1 | c.3363del (p.Gly1122AlafsTer?) c.2823del (p.Gly942AlafsTer?) c.864del (p.Gly289AlafsTer?) c.4068del (p.Gly1357AlafsTer?) c.498-5893del c.1294-5893del (n.1294-5893del) c.1585-1536del (n.1585-1536del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504505_45504513delinsCCCCCCCGG | CA2392190724 | COL18A1,SLC19A1 | c.3357_3365delinsCCCCCCCGG (p.Gly1119=) c.2817_2825delinsCCCCCCCGG (p.Gly939=) c.858_866delinsCCCCCCCGG (p.Gly286=) c.4062_4070delinsCCCCCCCGG (p.Gly1354=) c.498-5901_498-5893delinsCCGGGGGGG c.1294-5901_1294-5893delinsCCGGGGGGG (n.1294-5901_1294-5893delinsCCGGGGGGG) c.1585-1544_1585-1536delinsCCGGGGGGG (n.1585-1544_1585-1536delinsCCGGGGGGG) | |
21 | g.45504505_45504522delinsCCCCCCCGGCCCCCCAGG | CA2392190723 | COL18A1,SLC19A1 | c.3357_3374delinsCCCCCCCGGCCCCCCAGG (p.Gly1119=) c.2817_2834delinsCCCCCCCGGCCCCCCAGG (p.Gly939=) c.858_875delinsCCCCCCCGGCCCCCCAGG (p.Gly286=) c.4062_4079delinsCCCCCCCGGCCCCCCAGG (p.Gly1354=) c.498-5910_498-5893delinsCCTGGGGGGCCGGGGGGG c.1294-5910_1294-5893delinsCCTGGGGGGCCGGGGGGG (n.1294-5910_1294-5893delinsCCTGGGGGGCCGGGGGGG) c.1585-1553_1585-1536delinsCCTGGGGGGCCGGGGGGG (n.1585-1553_1585-1536delinsCCTGGGGGGCCGGGGGGG) | |
21 | g.45504506C>A | CA10067487 | COL18A1,SLC19A1 | c.3358C>A (p.Pro1120Thr) c.2818C>A (p.Pro940Thr) c.859C>A (p.Pro287Thr) c.4063C>A (p.Pro1355Thr) c.498-5894G>T c.1294-5894G>T (n.1294-5894G>T) c.1585-1537G>T (n.1585-1537G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504506C= | CA2392190727 | COL18A1,SLC19A1 | c.3358C= (p.Pro1120=) c.2818C= (p.Pro940=) c.859C= (p.Pro287=) c.4063C= (p.Pro1355=) c.498-5894G= c.1294-5894G= (n.1294-5894G=) c.1585-1537G= (n.1585-1537G=) | |
21 | g.45504506C>G | CA410499266 | COL18A1,SLC19A1 | c.3358C>G (p.Pro1120Ala) c.2818C>G (p.Pro940Ala) c.859C>G (p.Pro287Ala) c.4063C>G (p.Pro1355Ala) c.498-5894G>C c.1294-5894G>C (n.1294-5894G>C) c.1585-1537G>C (n.1585-1537G>C) | dbSNP |
21 | g.45504506C>T | CA410499265 | COL18A1,SLC19A1 | c.3358C>T (p.Pro1120Ser) c.2818C>T (p.Pro940Ser) c.859C>T (p.Pro287Ser) c.4063C>T (p.Pro1355Ser) c.498-5894G>A c.1294-5894G>A (n.1294-5894G>A) c.1585-1537G>A (n.1585-1537G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504506_45504512del | CA2654918235 | COL18A1,SLC19A1 | c.3358_3364del (p.Pro1120AlafsTer?) c.2818_2824del (p.Pro940AlafsTer?) c.859_865del (p.Pro287AlafsTer?) c.4063_4069del (p.Pro1355AlafsTer?) c.498-5900_498-5894del c.1294-5900_1294-5894del (n.1294-5900_1294-5894del) c.1585-1543_1585-1537del (n.1585-1543_1585-1537del) | gnomAD v4 |
21 | g.45504506_45504512delinsCCCCCCG | CA2392190726 | COL18A1,SLC19A1 | c.3358_3364delinsCCCCCCG (p.Pro1120=) c.2818_2824delinsCCCCCCG (p.Pro940=) c.859_865delinsCCCCCCG (p.Pro287=) c.4063_4069delinsCCCCCCG (p.Pro1355=) c.498-5900_498-5894delinsCGGGGGG c.1294-5900_1294-5894delinsCGGGGGG (n.1294-5900_1294-5894delinsCGGGGGG) c.1585-1543_1585-1537delinsCGGGGGG (n.1585-1543_1585-1537delinsCGGGGGG) | |
21 | g.45504512_45504519del | CA10067484 | COL18A1,SLC19A1 | c.3364_3371del (p.Gly1122ArgfsTer?) c.2824_2831del (p.Gly942ArgfsTer?) c.865_872del (p.Gly289ArgfsTer?) c.4069_4076del (p.Gly1357ArgfsTer?) c.498-5901_498-5894del c.1294-5901_1294-5894del (n.1294-5901_1294-5894del) c.1585-1544_1585-1537del (n.1585-1544_1585-1537del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504512_45504528del | CA10067485 | COL18A1,SLC19A1 | c.3364_3380del (p.Gly1122ArgfsTer?) c.2824_2840del (p.Gly942ArgfsTer?) c.865_881del (p.Gly289ArgfsTer?) c.4069_4085del (p.Gly1357ArgfsTer?) c.498-5910_498-5894del c.1294-5910_1294-5894del (n.1294-5910_1294-5894del) c.1585-1553_1585-1537del (n.1585-1553_1585-1537del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504507C>A | CA410499267 | COL18A1,SLC19A1 | c.3359C>A (p.Pro1120His) c.2819C>A (p.Pro940His) c.860C>A (p.Pro287His) c.4064C>A (p.Pro1355His) c.498-5895G>T c.1294-5895G>T (n.1294-5895G>T) c.1585-1538G>T (n.1585-1538G>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504507C= | CA2392190728 | COL18A1,SLC19A1 | c.3359C= (p.Pro1120=) c.2819C= (p.Pro940=) c.860C= (p.Pro287=) c.4064C= (p.Pro1355=) c.498-5895G= c.1294-5895G= (n.1294-5895G=) c.1585-1538G= (n.1585-1538G=) | |
21 | g.45504507C>G | CA10067488 | COL18A1,SLC19A1 | c.3359C>G (p.Pro1120Arg) c.2819C>G (p.Pro940Arg) c.860C>G (p.Pro287Arg) c.4064C>G (p.Pro1355Arg) c.498-5895G>C c.1294-5895G>C (n.1294-5895G>C) c.1585-1538G>C (n.1585-1538G>C) | ClinVar dbSNP ExAC gnomAD v2 |
21 | g.45504507C>T | CA10067489 | COL18A1,SLC19A1 | c.3359C>T (p.Pro1120Leu) c.2819C>T (p.Pro940Leu) c.860C>T (p.Pro287Leu) c.4064C>T (p.Pro1355Leu) c.498-5895G>A c.1294-5895G>A (n.1294-5895G>A) c.1585-1538G>A (n.1585-1538G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504507_45504512del | CA10067486 | COL18A1,SLC19A1 | c.3359_3364del (p.Pro1120_Gly1122delinsArg) c.2819_2824del (p.Pro940_Gly942delinsArg) c.860_865del (p.Pro287_Gly289delinsArg) c.4064_4069del (p.Pro1355_Gly1357delinsArg) c.498-5900_498-5895del c.1294-5900_1294-5895del (n.1294-5900_1294-5895del) c.1585-1543_1585-1538del (n.1585-1543_1585-1538del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504508C>A | CA512687163 | COL18A1,SLC19A1 | c.3360C>A (p.Pro1120=) c.2820C>A (p.Pro940=) c.861C>A (p.Pro287=) c.4065C>A (p.Pro1355=) c.498-5896G>T c.1294-5896G>T (n.1294-5896G>T) c.1585-1539G>T (n.1585-1539G>T) | gnomAD v2 gnomAD v4 |
21 | g.45504508C= | CA2392190730 | COL18A1,SLC19A1 | c.3360C= (p.Pro1120=) c.2820C= (p.Pro940=) c.861C= (p.Pro287=) c.4065C= (p.Pro1355=) c.498-5896G= c.1294-5896G= (n.1294-5896G=) c.1585-1539G= (n.1585-1539G=) | |
21 | g.45504508C>G | CA512687164 | COL18A1,SLC19A1 | c.3360C>G (p.Pro1120=) c.2820C>G (p.Pro940=) c.861C>G (p.Pro287=) c.4065C>G (p.Pro1355=) c.498-5896G>C c.1294-5896G>C (n.1294-5896G>C) c.1585-1539G>C (n.1585-1539G>C) | |
21 | g.45504508C>T | CA512687165 | COL18A1,SLC19A1 | c.3360C>T (p.Pro1120=) c.2820C>T (p.Pro940=) c.861C>T (p.Pro287=) c.4065C>T (p.Pro1355=) c.498-5896G>A c.1294-5896G>A (n.1294-5896G>A) c.1585-1539G>A (n.1585-1539G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504508_45504512delinsCCCCG | CA2392190729 | COL18A1,SLC19A1 | c.3360_3364delinsCCCCG (p.Pro1120=) c.2820_2824delinsCCCCG (p.Pro940=) c.861_865delinsCCCCG (p.Pro287=) c.4065_4069delinsCCCCG (p.Pro1355=) c.498-5900_498-5896delinsCGGGG c.1294-5900_1294-5896delinsCGGGG (n.1294-5900_1294-5896delinsCGGGG) c.1585-1543_1585-1539delinsCGGGG (n.1585-1543_1585-1539delinsCGGGG) | |
21 | g.45504509C>A | CA410499268 | COL18A1,SLC19A1 | c.3361C>A (p.Pro1121Thr) c.2821C>A (p.Pro941Thr) c.862C>A (p.Pro288Thr) c.4066C>A (p.Pro1356Thr) c.498-5897G>T c.1294-5897G>T (n.1294-5897G>T) c.1585-1540G>T (n.1585-1540G>T) | dbSNP gnomAD v4 |
21 | g.45504509C= | CA2392190732 | COL18A1,SLC19A1 | c.3361C= (p.Pro1121=) c.2821C= (p.Pro941=) c.862C= (p.Pro288=) c.4066C= (p.Pro1356=) c.498-5897G= c.1294-5897G= (n.1294-5897G=) c.1585-1540G= (n.1585-1540G=) | |
21 | g.45504509C>G | CA321921214 | COL18A1,SLC19A1 | c.3361C>G (p.Pro1121Ala) c.2821C>G (p.Pro941Ala) c.862C>G (p.Pro288Ala) c.4066C>G (p.Pro1356Ala) c.498-5897G>C c.1294-5897G>C (n.1294-5897G>C) c.1585-1540G>C (n.1585-1540G>C) | ClinVar dbSNP |
21 | g.45504509C>T | CA321921215 | COL18A1,SLC19A1 | c.3361C>T (p.Pro1121Ser) c.2821C>T (p.Pro941Ser) c.862C>T (p.Pro288Ser) c.4066C>T (p.Pro1356Ser) c.498-5897G>A c.1294-5897G>A (n.1294-5897G>A) c.1585-1540G>A (n.1585-1540G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504509_45504512del | CA10067490 | COL18A1,SLC19A1 | c.3361_3364del (p.Pro1121AlafsTer?) c.2821_2824del (p.Pro941AlafsTer?) c.862_865del (p.Pro288AlafsTer?) c.4066_4069del (p.Pro1356AlafsTer?) c.498-5900_498-5897del c.1294-5900_1294-5897del (n.1294-5900_1294-5897del) c.1585-1543_1585-1540del (n.1585-1543_1585-1540del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504509_45504520delinsCCCGGCCCCCCA | CA2392190731 | COL18A1,SLC19A1 | c.3361_3372delinsCCCGGCCCCCCA (p.Pro1121=) c.2821_2832delinsCCCGGCCCCCCA (p.Pro941=) c.862_873delinsCCCGGCCCCCCA (p.Pro288=) c.4066_4077delinsCCCGGCCCCCCA (p.Pro1356=) c.498-5908_498-5897delinsTGGGGGGCCGGG c.1294-5908_1294-5897delinsTGGGGGGCCGGG (n.1294-5908_1294-5897delinsTGGGGGGCCGGG) c.1585-1551_1585-1540delinsTGGGGGGCCGGG (n.1585-1551_1585-1540delinsTGGGGGGCCGGG) | |
21 | g.45504510C>A | CA410499269 | COL18A1,SLC19A1 | c.3362C>A (p.Pro1121His) c.2822C>A (p.Pro941His) c.863C>A (p.Pro288His) c.4067C>A (p.Pro1356His) c.498-5898G>T c.1294-5898G>T (n.1294-5898G>T) c.1585-1541G>T (n.1585-1541G>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504510C= | CA2392190733 | COL18A1,SLC19A1 | c.3362C= (p.Pro1121=) c.2822C= (p.Pro941=) c.863C= (p.Pro288=) c.4067C= (p.Pro1356=) c.498-5898G= c.1294-5898G= (n.1294-5898G=) c.1585-1541G= (n.1585-1541G=) | |
21 | g.45504510C>G | CA410499270 | COL18A1,SLC19A1 | c.3362C>G (p.Pro1121Arg) c.2822C>G (p.Pro941Arg) c.863C>G (p.Pro288Arg) c.4067C>G (p.Pro1356Arg) c.498-5898G>C c.1294-5898G>C (n.1294-5898G>C) c.1585-1541G>C (n.1585-1541G>C) | ClinVar dbSNP |
21 | g.45504510C>T | CA321921216 | COL18A1,SLC19A1 | c.3362C>T (p.Pro1121Leu) c.2822C>T (p.Pro941Leu) c.863C>T (p.Pro288Leu) c.4067C>T (p.Pro1356Leu) c.498-5898G>A c.1294-5898G>A (n.1294-5898G>A) c.1585-1541G>A (n.1585-1541G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504510_45504520del | CA638497337 | COL18A1,SLC19A1 | c.3362_3372del (p.Pro1121ArgfsTer?) c.2822_2832del (p.Pro941ArgfsTer?) c.863_873del (p.Pro288ArgfsTer?) c.4067_4077del (p.Pro1356ArgfsTer?) c.498-5908_498-5898del c.1294-5908_1294-5898del (n.1294-5908_1294-5898del) c.1585-1551_1585-1541del (n.1585-1551_1585-1541del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504510_45504520delinsCCGGCCCCCCA | CA2392190734 | COL18A1,SLC19A1 | c.3362_3372delinsCCGGCCCCCCA (p.Pro1121=) c.2822_2832delinsCCGGCCCCCCA (p.Pro941=) c.863_873delinsCCGGCCCCCCA (p.Pro288=) c.4067_4077delinsCCGGCCCCCCA (p.Pro1356=) c.498-5908_498-5898delinsTGGGGGGCCGG c.1294-5908_1294-5898delinsTGGGGGGCCGG (n.1294-5908_1294-5898delinsTGGGGGGCCGG) c.1585-1551_1585-1541delinsTGGGGGGCCGG (n.1585-1551_1585-1541delinsTGGGGGGCCGG) | |
21 | g.45504511C>A | CA10644821 | COL18A1,SLC19A1 | c.3363C>A (p.Pro1121=) c.2823C>A (p.Pro941=) c.864C>A (p.Pro288=) c.4068C>A (p.Pro1356=) c.498-5899G>T c.1294-5899G>T (n.1294-5899G>T) c.1585-1542G>T (n.1585-1542G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504511C= | CA2392190737 | COL18A1,SLC19A1 | c.3363C= (p.Pro1121=) c.2823C= (p.Pro941=) c.864C= (p.Pro288=) c.4068C= (p.Pro1356=) c.498-5899G= c.1294-5899G= (n.1294-5899G=) c.1585-1542G= (n.1585-1542G=) | |
21 | g.45504511C>G | CA512687166 | COL18A1,SLC19A1 | c.3363C>G (p.Pro1121=) c.2823C>G (p.Pro941=) c.864C>G (p.Pro288=) c.4068C>G (p.Pro1356=) c.498-5899G>C c.1294-5899G>C (n.1294-5899G>C) c.1585-1542G>C (n.1585-1542G>C) | |
21 | g.45504511C>T | CA512687167 | COL18A1,SLC19A1 | c.3363C>T (p.Pro1121=) c.2823C>T (p.Pro941=) c.864C>T (p.Pro288=) c.4068C>T (p.Pro1356=) c.498-5899G>A c.1294-5899G>A (n.1294-5899G>A) c.1585-1542G>A (n.1585-1542G>A) | dbSNP |
21 | g.45504511_45504513delinsCGG | CA2392190736 | COL18A1,SLC19A1 | c.3363_3365delinsCGG (p.Pro1121=) c.2823_2825delinsCGG (p.Pro941=) c.864_866delinsCGG (p.Pro288=) c.4068_4070delinsCGG (p.Pro1356=) c.498-5901_498-5899delinsCCG c.1294-5901_1294-5899delinsCCG (n.1294-5901_1294-5899delinsCCG) c.1585-1544_1585-1542delinsCCG (n.1585-1544_1585-1542delinsCCG) | |
21 | g.45504511_45504520del | CA512687168 | COL18A1,SLC19A1 | c.3363_3372del (p.Gly1122AlafsTer?) c.2823_2832del (p.Gly942AlafsTer?) c.864_873del (p.Gly289AlafsTer?) c.4068_4077del (p.Gly1357AlafsTer?) c.498-5908_498-5899del c.1294-5908_1294-5899del (n.1294-5908_1294-5899del) c.1585-1551_1585-1542del (n.1585-1551_1585-1542del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504511_45504520delinsCGGCCCCCCA | CA2497029955 | COL18A1,SLC19A1 | c.3363_3372delinsCGGCCCCCCA (p.Pro1121=) c.2823_2832delinsCGGCCCCCCA (p.Pro941=) c.864_873delinsCGGCCCCCCA (p.Pro288=) c.4068_4077delinsCGGCCCCCCA (p.Pro1356=) c.498-5908_498-5899delinsTGGGGGGCCG c.1294-5908_1294-5899delinsTGGGGGGCCG (n.1294-5908_1294-5899delinsTGGGGGGCCG) c.1585-1551_1585-1542delinsTGGGGGGCCG (n.1585-1551_1585-1542delinsTGGGGGGCCG) | |
21 | g.45504511_45504529del | CA638497338 | COL18A1,SLC19A1 | c.3363_3381del (p.Gly1122AlafsTer?) c.2823_2841del (p.Gly942AlafsTer?) c.864_882del (p.Gly289AlafsTer?) c.4068_4086del (p.Gly1357AlafsTer?) c.498-5917_498-5899del c.1294-5917_1294-5899del (n.1294-5917_1294-5899del) c.1585-1560_1585-1542del (n.1585-1560_1585-1542del) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504511_45504529delinsCGGCCCCCCAGGCCCCCCA | CA2392190735 | COL18A1,SLC19A1 | c.3363_3381delinsCGGCCCCCCAGGCCCCCCA (p.Pro1121=) c.2823_2841delinsCGGCCCCCCAGGCCCCCCA (p.Pro941=) c.864_882delinsCGGCCCCCCAGGCCCCCCA (p.Pro288=) c.4068_4086delinsCGGCCCCCCAGGCCCCCCA (p.Pro1356=) c.498-5917_498-5899delinsTGGGGGGCCTGGGGGGCCG c.1294-5917_1294-5899delinsTGGGGGGCCTGGGGGGCCG (n.1294-5917_1294-5899delinsTGGGGGGCCTGGGGGGCCG) c.1585-1560_1585-1542delinsTGGGGGGCCTGGGGGGCCG (n.1585-1560_1585-1542delinsTGGGGGGCCTGGGGGGCCG) | |
21 | g.45504511_45504512insA | CA1022823855 | COL18A1,SLC19A1 | c.3363_3364insA (p.Gly1122ArgfsTer?) c.2823_2824insA (p.Gly942ArgfsTer?) c.864_865insA (p.Gly289ArgfsTer?) c.4068_4069insA (p.Gly1357ArgfsTer?) c.498-5900_498-5899insT c.1294-5900_1294-5899insT (n.1294-5900_1294-5899insT) c.1585-1543_1585-1542insT (n.1585-1543_1585-1542insT) | gnomAD v3 gnomAD v4 |
21 | g.45504512G>A | CA410499271 | COL18A1,SLC19A1 | c.3364G>A (p.Gly1122Ser) c.2824G>A (p.Gly942Ser) c.865G>A (p.Gly289Ser) c.4069G>A (p.Gly1357Ser) c.498-5900C>T c.1294-5900C>T (n.1294-5900C>T) c.1585-1543C>T (n.1585-1543C>T) | dbSNP |
21 | g.45504512G>C | CA410499272 | COL18A1,SLC19A1 | c.3364G>C (p.Gly1122Arg) c.2824G>C (p.Gly942Arg) c.865G>C (p.Gly289Arg) c.4069G>C (p.Gly1357Arg) c.498-5900C>G c.1294-5900C>G (n.1294-5900C>G) c.1585-1543C>G (n.1585-1543C>G) | gnomAD v4 |
21 | g.45504512G= | CA2392190740 | COL18A1,SLC19A1 | c.3364G= (p.Gly1122=) c.2824G= (p.Gly942=) c.865G= (p.Gly289=) c.4069G= (p.Gly1357=) c.498-5900C= c.1294-5900C= (n.1294-5900C=) c.1585-1543C= (n.1585-1543C=) | |
21 | g.45504512G>T | CA410499273 | COL18A1,SLC19A1 | c.3364G>T (p.Gly1122Cys) c.2824G>T (p.Gly942Cys) c.865G>T (p.Gly289Cys) c.4069G>T (p.Gly1357Cys) c.498-5900C>A c.1294-5900C>A (n.1294-5900C>A) c.1585-1543C>A (n.1585-1543C>A) | |
21 | g.45504512_45504513del | CA10067493 | COL18A1,SLC19A1 | c.3364_3365del (p.Gly1122ProfsTer?) c.2824_2825del (p.Gly942ProfsTer?) c.865_866del (p.Gly289ProfsTer?) c.4069_4070del (p.Gly1357ProfsTer?) c.498-5901_498-5900del c.1294-5901_1294-5900del (n.1294-5901_1294-5900del) c.1585-1544_1585-1543del (n.1585-1544_1585-1543del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504512_45504519delinsGGCCCCCC | CA2392190738 | COL18A1,SLC19A1 | c.3364_3371delinsGGCCCCCC (p.Gly1122=) c.2824_2831delinsGGCCCCCC (p.Gly942=) c.865_872delinsGGCCCCCC (p.Gly289=) c.4069_4076delinsGGCCCCCC (p.Gly1357=) c.498-5907_498-5900delinsGGGGGGCC c.1294-5907_1294-5900delinsGGGGGGCC (n.1294-5907_1294-5900delinsGGGGGGCC) c.1585-1550_1585-1543delinsGGGGGGCC (n.1585-1550_1585-1543delinsGGGGGGCC) | |
21 | g.45504512_45504520delinsGGCCCCCCA | CA2392190741 | COL18A1,SLC19A1 | c.3364_3372delinsGGCCCCCCA (p.Gly1122=) c.2824_2832delinsGGCCCCCCA (p.Gly942=) c.865_873delinsGGCCCCCCA (p.Gly289=) c.4069_4077delinsGGCCCCCCA (p.Gly1357=) c.498-5908_498-5900delinsTGGGGGGCC c.1294-5908_1294-5900delinsTGGGGGGCC (n.1294-5908_1294-5900delinsTGGGGGGCC) c.1585-1551_1585-1543delinsTGGGGGGCC (n.1585-1551_1585-1543delinsTGGGGGGCC) | |
21 | g.45504513_45504522del | CA2577627023 | COL18A1,SLC19A1 | c.3365_3374del (p.Gly1122AlafsTer?) c.2825_2834del (p.Gly942AlafsTer?) c.866_875del (p.Gly289AlafsTer?) c.4070_4079del (p.Gly1357AlafsTer?) c.498-5909_498-5900del c.1294-5909_1294-5900del (n.1294-5909_1294-5900del) c.1585-1552_1585-1543del (n.1585-1552_1585-1543del) | |
21 | g.45504512_45504529delinsGGCCCCCCAGGCCCCCCA | CA2392190739 | COL18A1,SLC19A1 | c.3364_3381delinsGGCCCCCCAGGCCCCCCA (p.Gly1122=) c.2824_2841delinsGGCCCCCCAGGCCCCCCA (p.Gly942=) c.865_882delinsGGCCCCCCAGGCCCCCCA (p.Gly289=) c.4069_4086delinsGGCCCCCCAGGCCCCCCA (p.Gly1357=) c.498-5917_498-5900delinsTGGGGGGCCTGGGGGGCC c.1294-5917_1294-5900delinsTGGGGGGCCTGGGGGGCC (n.1294-5917_1294-5900delinsTGGGGGGCCTGGGGGGCC) c.1585-1560_1585-1543delinsTGGGGGGCCTGGGGGGCC (n.1585-1560_1585-1543delinsTGGGGGGCCTGGGGGGCC) | |
21 | g.45504526_45504534del | CA10067491 | COL18A1,SLC19A1 | c.3378_3386del (p.Pro1127_Pro1129del) c.2838_2846del (p.Pro947_Pro949del) c.879_887del (p.Pro294_Pro296del) c.4083_4091del (p.Pro1362_Pro1364del) c.498-5908_498-5900del c.1294-5908_1294-5900del (n.1294-5908_1294-5900del) c.1585-1551_1585-1543del (n.1585-1551_1585-1543del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
21 | g.45504517_45504534del | CA10067492 | COL18A1,SLC19A1 | c.3369_3386del (p.Pro1124_Pro1129del) c.2829_2846del (p.Pro944_Pro949del) c.870_887del (p.Pro291_Pro296del) c.4074_4091del (p.Pro1359_Pro1364del) c.498-5917_498-5900del c.1294-5917_1294-5900del (n.1294-5917_1294-5900del) c.1585-1560_1585-1543del (n.1585-1560_1585-1543del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504513G>A | CA410499276 | COL18A1,SLC19A1 | c.3365G>A (p.Gly1122Asp) c.2825G>A (p.Gly942Asp) c.866G>A (p.Gly289Asp) c.4070G>A (p.Gly1357Asp) c.498-5901C>T c.1294-5901C>T (n.1294-5901C>T) c.1585-1544C>T (n.1585-1544C>T) | |
21 | g.45504513G>C | CA410499275 | COL18A1,SLC19A1 | c.3365G>C (p.Gly1122Ala) c.2825G>C (p.Gly942Ala) c.866G>C (p.Gly289Ala) c.4070G>C (p.Gly1357Ala) c.498-5901C>G c.1294-5901C>G (n.1294-5901C>G) c.1585-1544C>G (n.1585-1544C>G) | |
21 | g.45504513G= | CA2392190743 | COL18A1,SLC19A1 | c.3365G= (p.Gly1122=) c.2825G= (p.Gly942=) c.866G= (p.Gly289=) c.4070G= (p.Gly1357=) c.498-5901C= c.1294-5901C= (n.1294-5901C=) c.1585-1544C= (n.1585-1544C=) | |
21 | g.45504513G>T | CA410499274 | COL18A1,SLC19A1 | c.3365G>T (p.Gly1122Val) c.2825G>T (p.Gly942Val) c.866G>T (p.Gly289Val) c.4070G>T (p.Gly1357Val) c.498-5901C>A c.1294-5901C>A (n.1294-5901C>A) c.1585-1544C>A (n.1585-1544C>A) | dbSNP |
21 | g.45504513_45504514delinsGC | CA2392190742 | COL18A1,SLC19A1 | c.3365_3366delinsGC (p.Gly1122=) c.2825_2826delinsGC (p.Gly942=) c.866_867delinsGC (p.Gly289=) c.4070_4071delinsGC (p.Gly1357=) c.498-5902_498-5901delinsGC c.1294-5902_1294-5901delinsGC (n.1294-5902_1294-5901delinsGC) c.1585-1545_1585-1544delinsGC (n.1585-1545_1585-1544delinsGC) | |
21 | g.45504513_45504519del | CA1022823867 | COL18A1,SLC19A1 | c.3365_3371del (p.Gly1122GlufsTer?) c.2825_2831del (p.Gly942GlufsTer?) c.866_872del (p.Gly289GlufsTer?) c.4070_4076del (p.Gly1357GlufsTer?) c.498-5907_498-5901del c.1294-5907_1294-5901del (n.1294-5907_1294-5901del) c.1585-1550_1585-1544del (n.1585-1550_1585-1544del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504514_45504521del | CA10067494 | COL18A1,SLC19A1 | c.3366_3373del (p.Gly1125ArgfsTer?) c.2826_2833del (p.Gly945ArgfsTer?) c.867_874del (p.Gly292ArgfsTer?) c.4071_4078del (p.Gly1360ArgfsTer?) c.498-5908_498-5901del c.1294-5908_1294-5901del (n.1294-5908_1294-5901del) c.3366_3373del (p.Pro1124ThrfsTer?) c.4071_4078del (p.Pro1359ThrfsTer?) c.2826_2833del (p.Pro944ThrfsTer?) c.1585-1551_1585-1544del (n.1585-1551_1585-1544del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504514_45504530del | CA1022823871 | COL18A1,SLC19A1 | c.3366_3382del (p.Pro1124ThrfsTer?) c.2826_2842del (p.Pro944ThrfsTer?) c.867_883del (p.Pro291ThrfsTer?) c.4071_4087del (p.Pro1359ThrfsTer?) c.498-5917_498-5901del c.1294-5917_1294-5901del (n.1294-5917_1294-5901del) c.1585-1560_1585-1544del (n.1585-1560_1585-1544del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504513_45504514insGCT | CA2654918347 | COL18A1,SLC19A1 | c.3365_3366insGCT (p.Gly1122_Pro1123insLeu) c.2825_2826insGCT (p.Gly942_Pro943insLeu) c.866_867insGCT (p.Gly289_Pro290insLeu) c.4070_4071insGCT (p.Gly1357_Pro1358insLeu) c.498-5902_498-5901insAGC c.1294-5902_1294-5901insAGC (n.1294-5902_1294-5901insAGC) c.1585-1545_1585-1544insAGC (n.1585-1545_1585-1544insAGC) | gnomAD v4 |
21 | g.45504514C>A | CA512687169 | COL18A1,SLC19A1 | c.3366C>A (p.Gly1122=) c.2826C>A (p.Gly942=) c.867C>A (p.Gly289=) c.4071C>A (p.Gly1357=) c.498-5902G>T c.1294-5902G>T (n.1294-5902G>T) c.1585-1545G>T (n.1585-1545G>T) | gnomAD v4 |
21 | g.45504514C>G | CA512687171 | COL18A1,SLC19A1 | c.3366C>G (p.Gly1122=) c.2826C>G (p.Gly942=) c.867C>G (p.Gly289=) c.4071C>G (p.Gly1357=) c.498-5902G>C c.1294-5902G>C (n.1294-5902G>C) c.1585-1545G>C (n.1585-1545G>C) | |
21 | g.45504514C>T | CA512687170 | COL18A1,SLC19A1 | c.3366C>T (p.Gly1122=) c.2826C>T (p.Gly942=) c.867C>T (p.Gly289=) c.4071C>T (p.Gly1357=) c.498-5902G>A c.1294-5902G>A (n.1294-5902G>A) c.1585-1545G>A (n.1585-1545G>A) | |
21 | g.45504514_45504519del | CA2654918341 | COL18A1,SLC19A1 | c.3366_3371del (p.Pro1123_Pro1124del) c.2826_2831del (p.Pro943_Pro944del) c.867_872del (p.Pro290_Pro291del) c.4071_4076del (p.Pro1358_Pro1359del) c.498-5907_498-5902del c.1294-5907_1294-5902del (n.1294-5907_1294-5902del) c.1585-1550_1585-1545del (n.1585-1550_1585-1545del) | gnomAD v4 |
21 | g.45504519del | CA2392190744 | COL18A1,SLC19A1 | c.3371del (p.Pro1124GlnfsTer?) c.2831del (p.Pro944GlnfsTer?) c.872del (p.Pro291GlnfsTer?) c.4076del (p.Pro1359GlnfsTer?) c.498-5902del c.1294-5902del (n.1294-5902del) c.1585-1545del (n.1585-1545del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504518_45504519del | CA2654918346 | COL18A1,SLC19A1 | c.3370_3371del (p.Pro1124ArgfsTer?) c.2830_2831del (p.Pro944ArgfsTer?) c.871_872del (p.Pro291ArgfsTer?) c.4075_4076del (p.Pro1359ArgfsTer?) c.498-5903_498-5902del c.1294-5903_1294-5902del (n.1294-5903_1294-5902del) c.1585-1546_1585-1545del (n.1585-1546_1585-1545del) | gnomAD v4 |
21 | g.45504517_45504519del | CA2818083997 | COL18A1,SLC19A1 | c.3369_3371del (p.Pro1124del) c.2829_2831del (p.Pro944del) c.870_872del (p.Pro291del) c.4074_4076del (p.Pro1359del) c.498-5904_498-5902del c.1294-5904_1294-5902del (n.1294-5904_1294-5902del) c.1585-1547_1585-1545del (n.1585-1547_1585-1545del) | |
21 | g.45504516_45504519del | CA2654918330 | COL18A1,SLC19A1 | c.3368_3371del (p.Pro1123GlnfsTer?) c.2828_2831del (p.Pro943GlnfsTer?) c.869_872del (p.Pro290GlnfsTer?) c.4073_4076del (p.Pro1358GlnfsTer?) c.498-5905_498-5902del c.1294-5905_1294-5902del (n.1294-5905_1294-5902del) c.1585-1548_1585-1545del (n.1585-1548_1585-1545del) | gnomAD v4 |
21 | g.45504515_45504519del | CA2654918343 | COL18A1,SLC19A1 | c.3367_3371del (p.Pro1123ArgfsTer?) c.2827_2831del (p.Pro943ArgfsTer?) c.868_872del (p.Pro290ArgfsTer?) c.4072_4076del (p.Pro1358ArgfsTer?) c.498-5906_498-5902del c.1294-5906_1294-5902del (n.1294-5906_1294-5902del) c.1585-1549_1585-1545del (n.1585-1549_1585-1545del) | gnomAD v4 |
21 | g.45504514_45504520del | CA2654918339 | COL18A1,SLC19A1 | c.3366_3372del (p.Pro1123AlafsTer?) c.2826_2832del (p.Pro943AlafsTer?) c.867_873del (p.Pro290AlafsTer?) c.4071_4077del (p.Pro1358AlafsTer?) c.498-5908_498-5902del c.1294-5908_1294-5902del (n.1294-5908_1294-5902del) c.1585-1551_1585-1545del (n.1585-1551_1585-1545del) | gnomAD v4 |
21 | g.45504514_45504520delinsCCCCCCA | CA2392190747 | COL18A1,SLC19A1 | c.3366_3372delinsCCCCCCA (p.Gly1122=) c.2826_2832delinsCCCCCCA (p.Gly942=) c.867_873delinsCCCCCCA (p.Gly289=) c.4071_4077delinsCCCCCCA (p.Gly1357=) c.498-5908_498-5902delinsTGGGGGG c.1294-5908_1294-5902delinsTGGGGGG (n.1294-5908_1294-5902delinsTGGGGGG) c.1585-1551_1585-1545delinsTGGGGGG (n.1585-1551_1585-1545delinsTGGGGGG) | |
21 | g.45504514_45504522delinsCCCCCCAGG | CA2392190746 | COL18A1,SLC19A1 | c.3366_3374delinsCCCCCCAGG (p.Gly1122=) c.2826_2834delinsCCCCCCAGG (p.Gly942=) c.867_875delinsCCCCCCAGG (p.Gly289=) c.4071_4079delinsCCCCCCAGG (p.Gly1357=) c.498-5910_498-5902delinsCCTGGGGGG c.1294-5910_1294-5902delinsCCTGGGGGG (n.1294-5910_1294-5902delinsCCTGGGGGG) c.1585-1553_1585-1545delinsCCTGGGGGG (n.1585-1553_1585-1545delinsCCTGGGGGG) | |
21 | g.45504519_45504528del | CA2577627024 | COL18A1,SLC19A1 | c.3371_3380del (p.Pro1124GlnfsTer?) c.2831_2840del (p.Pro944GlnfsTer?) c.872_881del (p.Pro291GlnfsTer?) c.4076_4085del (p.Pro1359GlnfsTer?) c.498-5911_498-5902del c.1294-5911_1294-5902del (n.1294-5911_1294-5902del) c.1585-1554_1585-1545del (n.1585-1554_1585-1545del) | gnomAD v4 |
21 | g.45504518_45504528del | CA2654918334 | COL18A1,SLC19A1 | c.3370_3380del (p.Pro1124ArgfsTer?) c.2830_2840del (p.Pro944ArgfsTer?) c.871_881del (p.Pro291ArgfsTer?) c.4075_4085del (p.Pro1359ArgfsTer?) c.498-5912_498-5902del c.1294-5912_1294-5902del (n.1294-5912_1294-5902del) c.1585-1555_1585-1545del (n.1585-1555_1585-1545del) | gnomAD v4 |
21 | g.45504514_45504529delinsCCCCCCAGGCCCCCCA | CA2392190745 | COL18A1,SLC19A1 | c.3366_3381delinsCCCCCCAGGCCCCCCA (p.Gly1122=) c.2826_2841delinsCCCCCCAGGCCCCCCA (p.Gly942=) c.867_882delinsCCCCCCAGGCCCCCCA (p.Gly289=) c.4071_4086delinsCCCCCCAGGCCCCCCA (p.Gly1357=) c.498-5917_498-5902delinsTGGGGGGCCTGGGGGG c.1294-5917_1294-5902delinsTGGGGGGCCTGGGGGG (n.1294-5917_1294-5902delinsTGGGGGGCCTGGGGGG) c.1585-1560_1585-1545delinsTGGGGGGCCTGGGGGG (n.1585-1560_1585-1545delinsTGGGGGGCCTGGGGGG) | |
21 | g.45504515C>A | CA410499277 | COL18A1,SLC19A1 | c.3367C>A (p.Pro1123Thr) c.2827C>A (p.Pro943Thr) c.868C>A (p.Pro290Thr) c.4072C>A (p.Pro1358Thr) c.498-5903G>T c.1294-5903G>T (n.1294-5903G>T) c.1585-1546G>T (n.1585-1546G>T) | dbSNP |
21 | g.45504515C= | CA2392190749 | COL18A1,SLC19A1 | c.3367C= (p.Pro1123=) c.2827C= (p.Pro943=) c.868C= (p.Pro290=) c.4072C= (p.Pro1358=) c.498-5903G= c.1294-5903G= (n.1294-5903G=) c.1585-1546G= (n.1585-1546G=) | |
21 | g.45504515C>G | CA410499278 | COL18A1,SLC19A1 | c.3367C>G (p.Pro1123Ala) c.2827C>G (p.Pro943Ala) c.868C>G (p.Pro290Ala) c.4072C>G (p.Pro1358Ala) c.498-5903G>C c.1294-5903G>C (n.1294-5903G>C) c.1585-1546G>C (n.1585-1546G>C) | |
21 | g.45504515C>T | CA410499279 | COL18A1,SLC19A1 | c.3367C>T (p.Pro1123Ser) c.2827C>T (p.Pro943Ser) c.868C>T (p.Pro290Ser) c.4072C>T (p.Pro1358Ser) c.498-5903G>A c.1294-5903G>A (n.1294-5903G>A) c.1585-1546G>A (n.1585-1546G>A) | dbSNP |
21 | g.45504515_45504520del | CA638497339 | COL18A1,SLC19A1 | c.3367_3372del (p.Pro1123_Pro1124del) c.2827_2832del (p.Pro943_Pro944del) c.868_873del (p.Pro290_Pro291del) c.4072_4077del (p.Pro1358_Pro1359del) c.498-5908_498-5903del c.1294-5908_1294-5903del (n.1294-5908_1294-5903del) c.1585-1551_1585-1546del (n.1585-1551_1585-1546del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504515_45504520delinsCCCCCA | CA2392190748 | COL18A1,SLC19A1 | c.3367_3372delinsCCCCCA (p.Pro1123=) c.2827_2832delinsCCCCCA (p.Pro943=) c.868_873delinsCCCCCA (p.Pro290=) c.4072_4077delinsCCCCCA (p.Pro1358=) c.498-5908_498-5903delinsTGGGGG c.1294-5908_1294-5903delinsTGGGGG (n.1294-5908_1294-5903delinsTGGGGG) c.1585-1551_1585-1546delinsTGGGGG (n.1585-1551_1585-1546delinsTGGGGG) | |
21 | g.45504515_45504521del | CA1139532547 | COL18A1,SLC19A1 | c.3367_3373del (p.Pro1123AlafsTer?) c.2827_2833del (p.Pro943AlafsTer?) c.868_874del (p.Pro290AlafsTer?) c.4072_4078del (p.Pro1358AlafsTer?) c.498-5909_498-5903del c.1294-5909_1294-5903del (n.1294-5909_1294-5903del) c.1585-1552_1585-1546del (n.1585-1552_1585-1546del) | gnomAD v4 |
21 | g.45504520_45504527del | CA638497340 | COL18A1,SLC19A1 | c.3372_3379del (p.Gly1125ArgfsTer?) c.2832_2839del (p.Gly945ArgfsTer?) c.873_880del (p.Gly292ArgfsTer?) c.4077_4084del (p.Gly1360ArgfsTer?) c.498-5910_498-5903del c.1294-5910_1294-5903del (n.1294-5910_1294-5903del) c.1585-1553_1585-1546del (n.1585-1553_1585-1546del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504515_45504529del | CA10067495 | COL18A1,SLC19A1 | c.3367_3381del (p.Pro1123_Pro1127del) c.2827_2841del (p.Pro943_Pro947del) c.868_882del (p.Pro290_Pro294del) c.4072_4086del (p.Pro1358_Pro1362del) c.498-5917_498-5903del c.1294-5917_1294-5903del (n.1294-5917_1294-5903del) c.1585-1560_1585-1546del (n.1585-1560_1585-1546del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504516C>A | CA410499282 | COL18A1,SLC19A1 | c.3368C>A (p.Pro1123His) c.2828C>A (p.Pro943His) c.869C>A (p.Pro290His) c.4073C>A (p.Pro1358His) c.498-5904G>T c.1294-5904G>T (n.1294-5904G>T) c.1585-1547G>T (n.1585-1547G>T) | |
21 | g.45504516C= | CA2392190750 | COL18A1,SLC19A1 | c.3368C= (p.Pro1123=) c.2828C= (p.Pro943=) c.869C= (p.Pro290=) c.4073C= (p.Pro1358=) c.498-5904G= c.1294-5904G= (n.1294-5904G=) c.1585-1547G= (n.1585-1547G=) | |
21 | g.45504516C>G | CA410499281 | COL18A1,SLC19A1 | c.3368C>G (p.Pro1123Arg) c.2828C>G (p.Pro943Arg) c.869C>G (p.Pro290Arg) c.4073C>G (p.Pro1358Arg) c.498-5904G>C c.1294-5904G>C (n.1294-5904G>C) c.1585-1547G>C (n.1585-1547G>C) | dbSNP |
21 | g.45504516C>T | CA410499280 | COL18A1,SLC19A1 | c.3368C>T (p.Pro1123Leu) c.2828C>T (p.Pro943Leu) c.869C>T (p.Pro290Leu) c.4073C>T (p.Pro1358Leu) c.498-5904G>A c.1294-5904G>A (n.1294-5904G>A) c.1585-1547G>A (n.1585-1547G>A) | |
21 | g.45504516_45504520del | CA10067496 | COL18A1,SLC19A1 | c.3368_3372del (p.Pro1123ArgfsTer?) c.2828_2832del (p.Pro943ArgfsTer?) c.869_873del (p.Pro290ArgfsTer?) c.4073_4077del (p.Pro1358ArgfsTer?) c.498-5908_498-5904del c.1294-5908_1294-5904del (n.1294-5908_1294-5904del) c.1585-1551_1585-1547del (n.1585-1551_1585-1547del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504520_45504526del | CA2739267721 | COL18A1,SLC19A1 | c.3372_3378del (p.Gly1125GlnfsTer?) c.2832_2838del (p.Gly945GlnfsTer?) c.873_879del (p.Gly292GlnfsTer?) c.4077_4083del (p.Gly1360GlnfsTer?) c.498-5910_498-5904del c.1294-5910_1294-5904del (n.1294-5910_1294-5904del) c.1585-1553_1585-1547del (n.1585-1553_1585-1547del) | ClinVar |