Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.45504478_45504479insAGT | CA2830850647 | COL18A1,SLC19A1 | c.3330_3331insAGT (p.Gly1110_Gly1111insSer) c.2790_2791insAGT (p.Gly930_Gly931insSer) c.831_832insAGT (p.Gly277_Gly278insSer) c.4035_4036insAGT (p.Gly1345_Gly1346insSer) c.498-5867_498-5866insACT c.1294-5867_1294-5866insACT (n.1294-5867_1294-5866insACT) c.1585-1510_1585-1509insACT (n.1585-1510_1585-1509insACT) | |
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.45504481_45504487del | CA2830849598 | COL18A1,SLC19A1 | c.3333_3339del (p.Phe1112AlafsTer?) c.2793_2799del (p.Phe932AlafsTer?) c.834_840del (p.Phe279AlafsTer?) c.4038_4044del (p.Phe1347AlafsTer?) c.498-5875_498-5869del c.1294-5875_1294-5869del (n.1294-5875_1294-5869del) c.1585-1518_1585-1512del (n.1585-1518_1585-1512del) | |
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 |
21 | g.45504517C>A | CA512687172 | COL18A1,SLC19A1 | c.3369C>A (p.Pro1123=) c.2829C>A (p.Pro943=) c.870C>A (p.Pro290=) c.4074C>A (p.Pro1358=) c.498-5905G>T c.1294-5905G>T (n.1294-5905G>T) c.1585-1548G>T (n.1585-1548G>T) | dbSNP |
21 | g.45504517C= | CA2392190752 | COL18A1,SLC19A1 | c.3369C= (p.Pro1123=) c.2829C= (p.Pro943=) c.870C= (p.Pro290=) c.4074C= (p.Pro1358=) c.498-5905G= c.1294-5905G= (n.1294-5905G=) c.1585-1548G= (n.1585-1548G=) | |
21 | g.45504517C>G | CA512687173 | COL18A1,SLC19A1 | c.3369C>G (p.Pro1123=) c.2829C>G (p.Pro943=) c.870C>G (p.Pro290=) c.4074C>G (p.Pro1358=) c.498-5905G>C c.1294-5905G>C (n.1294-5905G>C) c.1585-1548G>C (n.1585-1548G>C) | |
21 | g.45504517C>T | CA512687174 | COL18A1,SLC19A1 | c.3369C>T (p.Pro1123=) c.2829C>T (p.Pro943=) c.870C>T (p.Pro290=) c.4074C>T (p.Pro1358=) c.498-5905G>A c.1294-5905G>A (n.1294-5905G>A) c.1585-1548G>A (n.1585-1548G>A) | dbSNP |
21 | g.45504517_45504520delinsCCCA | CA2392190751 | COL18A1,SLC19A1 | c.3369_3372delinsCCCA (p.Pro1123=) c.2829_2832delinsCCCA (p.Pro943=) c.870_873delinsCCCA (p.Pro290=) c.4074_4077delinsCCCA (p.Pro1358=) c.498-5908_498-5905delinsTGGG c.1294-5908_1294-5905delinsTGGG (n.1294-5908_1294-5905delinsTGGG) c.1585-1551_1585-1548delinsTGGG (n.1585-1551_1585-1548delinsTGGG) | |
21 | g.45504517_45504535delinsCCCAGGCCCCCCAGGCCCA | CA2392190753 | COL18A1,SLC19A1 | c.3369_3387delinsCCCAGGCCCCCCAGGCCCA (p.Pro1123=) c.2829_2847delinsCCCAGGCCCCCCAGGCCCA (p.Pro943=) c.870_888delinsCCCAGGCCCCCCAGGCCCA (p.Pro290=) c.4074_4092delinsCCCAGGCCCCCCAGGCCCA (p.Pro1358=) c.498-5923_498-5905delinsTGGGCCTGGGGGGCCTGGG c.1294-5923_1294-5905delinsTGGGCCTGGGGGGCCTGGG (n.1294-5923_1294-5905delinsTGGGCCTGGGGGGCCTGGG) c.1585-1566_1585-1548delinsTGGGCCTGGGGGGCCTGGG (n.1585-1566_1585-1548delinsTGGGCCTGGGGGGCCTGGG) | |
21 | g.45504518C>A | CA410499283 | COL18A1,SLC19A1 | c.3370C>A (p.Pro1124Thr) c.2830C>A (p.Pro944Thr) c.871C>A (p.Pro291Thr) c.4075C>A (p.Pro1359Thr) c.498-5906G>T c.1294-5906G>T (n.1294-5906G>T) c.1585-1549G>T (n.1585-1549G>T) | |
21 | g.45504518C>G | CA410499284 | COL18A1,SLC19A1 | c.3370C>G (p.Pro1124Ala) c.2830C>G (p.Pro944Ala) c.871C>G (p.Pro291Ala) c.4075C>G (p.Pro1359Ala) c.498-5906G>C c.1294-5906G>C (n.1294-5906G>C) c.1585-1549G>C (n.1585-1549G>C) | |
21 | g.45504518C>T | CA410499285 | COL18A1,SLC19A1 | c.3370C>T (p.Pro1124Ser) c.2830C>T (p.Pro944Ser) c.871C>T (p.Pro291Ser) c.4075C>T (p.Pro1359Ser) c.498-5906G>A c.1294-5906G>A (n.1294-5906G>A) c.1585-1549G>A (n.1585-1549G>A) | |
21 | g.45504518_45504520del | CA10067497 | COL18A1,SLC19A1 | c.3370_3372del (p.Pro1124del) c.2830_2832del (p.Pro944del) c.871_873del (p.Pro291del) c.4075_4077del (p.Pro1359del) c.498-5908_498-5906del c.1294-5908_1294-5906del (n.1294-5908_1294-5906del) c.1585-1551_1585-1549del (n.1585-1551_1585-1549del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504518_45504520delinsCCA | CA2392190754 | COL18A1,SLC19A1 | c.3370_3372delinsCCA (p.Pro1124=) c.2830_2832delinsCCA (p.Pro944=) c.871_873delinsCCA (p.Pro291=) c.4075_4077delinsCCA (p.Pro1359=) c.498-5908_498-5906delinsTGG c.1294-5908_1294-5906delinsTGG (n.1294-5908_1294-5906delinsTGG) c.1585-1551_1585-1549delinsTGG (n.1585-1551_1585-1549delinsTGG) | |
21 | g.45504518_45504535delinsCCAGGCCCCCCAGGCCCA | CA2392190755 | COL18A1,SLC19A1 | c.3370_3387delinsCCAGGCCCCCCAGGCCCA (p.Pro1124=) c.2830_2847delinsCCAGGCCCCCCAGGCCCA (p.Pro944=) c.871_888delinsCCAGGCCCCCCAGGCCCA (p.Pro291=) c.4075_4092delinsCCAGGCCCCCCAGGCCCA (p.Pro1359=) c.498-5923_498-5906delinsTGGGCCTGGGGGGCCTGG c.1294-5923_1294-5906delinsTGGGCCTGGGGGGCCTGG (n.1294-5923_1294-5906delinsTGGGCCTGGGGGGCCTGG) c.1585-1566_1585-1549delinsTGGGCCTGGGGGGCCTGG (n.1585-1566_1585-1549delinsTGGGCCTGGGGGGCCTGG) | |
21 | g.45504519_45504536del | CA10067498 | COL18A1,SLC19A1 | c.3371_3388del (p.Pro1124_Pro1129del) c.2831_2848del (p.Pro944_Pro949del) c.872_889del (p.Pro291_Pro296del) c.4076_4093del (p.Pro1359_Pro1364del) c.498-5923_498-5906del c.1294-5923_1294-5906del (n.1294-5923_1294-5906del) c.1585-1566_1585-1549del (n.1585-1566_1585-1549del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504519C>A | CA410499288 | COL18A1,SLC19A1 | c.3371C>A (p.Pro1124Gln) c.2831C>A (p.Pro944Gln) c.872C>A (p.Pro291Gln) c.4076C>A (p.Pro1359Gln) c.498-5907G>T c.1294-5907G>T (n.1294-5907G>T) c.1585-1550G>T (n.1585-1550G>T) | |
21 | g.45504519C= | CA2392190757 | COL18A1,SLC19A1 | c.3371C= (p.Pro1124=) c.2831C= (p.Pro944=) c.872C= (p.Pro291=) c.4076C= (p.Pro1359=) c.498-5907G= c.1294-5907G= (n.1294-5907G=) c.1585-1550G= (n.1585-1550G=) | |
21 | g.45504519C>G | CA410499286 | COL18A1,SLC19A1 | c.3371C>G (p.Pro1124Arg) c.2831C>G (p.Pro944Arg) c.872C>G (p.Pro291Arg) c.4076C>G (p.Pro1359Arg) c.498-5907G>C c.1294-5907G>C (n.1294-5907G>C) c.1585-1550G>C (n.1585-1550G>C) | |
21 | g.45504519C>T | CA410499287 | COL18A1,SLC19A1 | c.3371C>T (p.Pro1124Leu) c.2831C>T (p.Pro944Leu) c.872C>T (p.Pro291Leu) c.4076C>T (p.Pro1359Leu) c.498-5907G>A c.1294-5907G>A (n.1294-5907G>A) c.1585-1550G>A (n.1585-1550G>A) | dbSNP |
21 | g.45504519_45504520del | CA10067499 | COL18A1,SLC19A1 | c.3371_3372del (p.Pro1124ArgfsTer?) c.2831_2832del (p.Pro944ArgfsTer?) c.872_873del (p.Pro291ArgfsTer?) c.4076_4077del (p.Pro1359ArgfsTer?) c.498-5908_498-5907del c.1294-5908_1294-5907del (n.1294-5908_1294-5907del) c.1585-1551_1585-1550del (n.1585-1551_1585-1550del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504519_45504522delinsCAGG | CA2392190756 | COL18A1,SLC19A1 | c.3371_3374delinsCAGG (p.Pro1124=) c.2831_2834delinsCAGG (p.Pro944=) c.872_875delinsCAGG (p.Pro291=) c.4076_4079delinsCAGG (p.Pro1359=) c.498-5910_498-5907delinsCCTG c.1294-5910_1294-5907delinsCCTG (n.1294-5910_1294-5907delinsCCTG) c.1585-1553_1585-1550delinsCCTG (n.1585-1553_1585-1550delinsCCTG) | |
21 | g.45504520_45504536del | CA749787712 | COL18A1,SLC19A1 | c.3372_3388del (p.Gly1125TrpfsTer?) c.2832_2848del (p.Gly945TrpfsTer?) c.873_889del (p.Gly292TrpfsTer?) c.4077_4093del (p.Gly1360TrpfsTer?) c.498-5923_498-5907del c.1294-5923_1294-5907del (n.1294-5923_1294-5907del) c.1585-1566_1585-1550del (n.1585-1566_1585-1550del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504519_45504537del | CA2695230313 | COL18A1,SLC19A1 | c.3371_3389del (p.Pro1124LeufsTer?) c.2831_2849del (p.Pro944LeufsTer?) c.872_890del (p.Pro291LeufsTer?) c.4076_4094del (p.Pro1359LeufsTer?) c.498-5925_498-5907del c.1294-5925_1294-5907del (n.1294-5925_1294-5907del) c.1585-1568_1585-1550del (n.1585-1568_1585-1550del) | |
21 | g.45504520del | CA2654918388 | COL18A1,SLC19A1 | c.3372del (p.Gly1125AlafsTer?) c.2832del (p.Gly945AlafsTer?) c.873del (p.Gly292AlafsTer?) c.4077del (p.Gly1360AlafsTer?) c.498-5908del c.1294-5908del (n.1294-5908del) c.1585-1551del (n.1585-1551del) | gnomAD v4 |
21 | g.45504520A= | CA2392190761 | COL18A1,SLC19A1 | c.3372A= (p.Pro1124=) c.2832A= (p.Pro944=) c.873A= (p.Pro291=) c.4077A= (p.Pro1359=) c.498-5908T= c.1294-5908T= (n.1294-5908T=) c.1585-1551T= (n.1585-1551T=) | |
21 | g.45504520A>C | CA10067502 | COL18A1,SLC19A1 | c.3372A>C (p.Pro1124=) c.2832A>C (p.Pro944=) c.873A>C (p.Pro291=) c.4077A>C (p.Pro1359=) c.498-5908T>G c.1294-5908T>G (n.1294-5908T>G) c.1585-1551T>G (n.1585-1551T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.45504520A>G | CA512687175 | COL18A1,SLC19A1 | c.3372A>G (p.Pro1124=) c.2832A>G (p.Pro944=) c.873A>G (p.Pro291=) c.4077A>G (p.Pro1359=) c.498-5908T>C c.1294-5908T>C (n.1294-5908T>C) c.1585-1551T>C (n.1585-1551T>C) | ClinVar dbSNP gnomAD v4 |
21 | g.45504520A>T | CA10067501 | COL18A1,SLC19A1 | c.3372A>T (p.Pro1124=) c.2832A>T (p.Pro944=) c.873A>T (p.Pro291=) c.4077A>T (p.Pro1359=) c.498-5908T>A c.1294-5908T>A (n.1294-5908T>A) c.1585-1551T>A (n.1585-1551T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504520_45504521delinsAG | CA2392190760 | COL18A1,SLC19A1 | c.3372_3373delinsAG (p.Pro1124=) c.2832_2833delinsAG (p.Pro944=) c.873_874delinsAG (p.Pro291=) c.4077_4078delinsAG (p.Pro1359=) c.498-5909_498-5908delinsCT c.1294-5909_1294-5908delinsCT (n.1294-5909_1294-5908delinsCT) c.1585-1552_1585-1551delinsCT (n.1585-1552_1585-1551delinsCT) | |
21 | g.45504520_45504522del | CA10067500 | COL18A1,SLC19A1 | c.3372_3374del (p.Gly1125del) c.2832_2834del (p.Gly945del) c.873_875del (p.Gly292del) c.4077_4079del (p.Gly1360del) c.498-5910_498-5908del c.1294-5910_1294-5908del (n.1294-5910_1294-5908del) c.1585-1553_1585-1551del (n.1585-1553_1585-1551del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504520_45504523delinsAGGC | CA2392190758 | COL18A1,SLC19A1 | c.3372_3375delinsAGGC (p.Pro1124=) c.2832_2835delinsAGGC (p.Pro944=) c.873_876delinsAGGC (p.Pro291=) c.4077_4080delinsAGGC (p.Pro1359=) c.498-5911_498-5908delinsGCCT c.1294-5911_1294-5908delinsGCCT (n.1294-5911_1294-5908delinsGCCT) c.1585-1554_1585-1551delinsGCCT (n.1585-1554_1585-1551delinsGCCT) | |
21 | g.45504520_45504528delinsAGGCCCCCC | CA2392190759 | COL18A1,SLC19A1 | c.3372_3380delinsAGGCCCCCC (p.Pro1124=) c.2832_2840delinsAGGCCCCCC (p.Pro944=) c.873_881delinsAGGCCCCCC (p.Pro291=) c.4077_4085delinsAGGCCCCCC (p.Pro1359=) c.498-5916_498-5908delinsGGGGGGCCT c.1294-5916_1294-5908delinsGGGGGGCCT (n.1294-5916_1294-5908delinsGGGGGGCCT) c.1585-1559_1585-1551delinsGGGGGGCCT (n.1585-1559_1585-1551delinsGGGGGGCCT) | |
21 | g.45504520_45504529del | CA2577627028 | COL18A1,SLC19A1 | c.3372_3381del (p.Gly1125AlafsTer?) c.2832_2841del (p.Gly945AlafsTer?) c.873_882del (p.Gly292AlafsTer?) c.4077_4086del (p.Gly1360AlafsTer?) c.498-5917_498-5908del c.1294-5917_1294-5908del (n.1294-5917_1294-5908del) c.1585-1560_1585-1551del (n.1585-1560_1585-1551del) | gnomAD v4 |
21 | g.45504521G>A | CA321921217 | COL18A1,SLC19A1 | c.3373G>A (p.Gly1125Ser) c.2833G>A (p.Gly945Ser) c.874G>A (p.Gly292Ser) c.4078G>A (p.Gly1360Ser) c.498-5909C>T c.1294-5909C>T (n.1294-5909C>T) c.1585-1552C>T (n.1585-1552C>T) | ClinVar dbSNP |
21 | g.45504521G>C | CA410499289 | COL18A1,SLC19A1 | c.3373G>C (p.Gly1125Arg) c.2833G>C (p.Gly945Arg) c.874G>C (p.Gly292Arg) c.4078G>C (p.Gly1360Arg) c.498-5909C>G c.1294-5909C>G (n.1294-5909C>G) c.1585-1552C>G (n.1585-1552C>G) | gnomAD v4 |
21 | g.45504521G= | CA2392190762 | COL18A1,SLC19A1 | c.3373G= (p.Gly1125=) c.2833G= (p.Gly945=) c.874G= (p.Gly292=) c.4078G= (p.Gly1360=) c.498-5909C= c.1294-5909C= (n.1294-5909C=) c.1585-1552C= (n.1585-1552C=) | |
21 | g.45504521G>T | CA410499290 | COL18A1,SLC19A1 | c.3373G>T (p.Gly1125Cys) c.2833G>T (p.Gly945Cys) c.874G>T (p.Gly292Cys) c.4078G>T (p.Gly1360Cys) c.498-5909C>A c.1294-5909C>A (n.1294-5909C>A) c.1585-1552C>A (n.1585-1552C>A) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504521_45504522del | CA1139771371 | COL18A1,SLC19A1 | c.3373_3374del (p.Gly1125ProfsTer?) c.2833_2834del (p.Gly945ProfsTer?) c.874_875del (p.Gly292ProfsTer?) c.4078_4079del (p.Gly1360ProfsTer?) c.498-5910_498-5909del c.1294-5910_1294-5909del (n.1294-5910_1294-5909del) c.1585-1553_1585-1552del (n.1585-1553_1585-1552del) | gnomAD v4 |
21 | g.45504522dup | CA1022823883 | COL18A1,SLC19A1 | c.3374dup (p.Gly1128ArgfsTer?) c.2834dup (p.Gly948ArgfsTer?) c.875dup (p.Gly295ArgfsTer?) c.4079dup (p.Gly1363ArgfsTer?) c.498-5909dup c.1294-5909dup (n.1294-5909dup) c.3374dup (p.Arg1127ThrfsTer?) c.4079dup (p.Arg1362ThrfsTer?) c.2834dup (p.Arg947ThrfsTer?) c.1585-1552dup (n.1585-1552dup) | gnomAD v3 gnomAD v4 |
21 | g.45504522del | CA10067503 | COL18A1,SLC19A1 | c.3374del (p.Gly1125AlafsTer?) c.2834del (p.Gly945AlafsTer?) c.875del (p.Gly292AlafsTer?) c.4079del (p.Gly1360AlafsTer?) c.498-5909del c.1294-5909del (n.1294-5909del) c.1585-1552del (n.1585-1552del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504521_45504523del | CA1022823886 | COL18A1,SLC19A1 | c.3373_3375del (p.Gly1125del) c.2833_2835del (p.Gly945del) c.874_876del (p.Gly292del) c.4078_4080del (p.Gly1360del) c.498-5911_498-5909del c.1294-5911_1294-5909del (n.1294-5911_1294-5909del) c.1585-1554_1585-1552del (n.1585-1554_1585-1552del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504521_45504524del | CA2654918411 | COL18A1,SLC19A1 | c.3373_3376del (p.Gly1125ProfsTer?) c.2833_2836del (p.Gly945ProfsTer?) c.874_877del (p.Gly292ProfsTer?) c.4078_4081del (p.Gly1360ProfsTer?) c.498-5912_498-5909del c.1294-5912_1294-5909del (n.1294-5912_1294-5909del) c.3373_3376del (p.Gly1125HisfsTer?) c.4078_4081del (p.Gly1360HisfsTer?) c.2833_2836del (p.Gly945HisfsTer?) c.1585-1555_1585-1552del (n.1585-1555_1585-1552del) | gnomAD v4 |
21 | g.45504521_45504525del | CA2654918416 | COL18A1,SLC19A1 | c.3373_3377del (p.Gly1125ProfsTer?) c.2833_2837del (p.Gly945ProfsTer?) c.874_878del (p.Gly292ProfsTer?) c.4078_4082del (p.Gly1360ProfsTer?) c.498-5913_498-5909del c.1294-5913_1294-5909del (n.1294-5913_1294-5909del) c.3373_3377del (p.Gly1125ThrfsTer?) c.4078_4082del (p.Gly1360ThrfsTer?) c.2833_2837del (p.Gly945ThrfsTer?) c.1585-1556_1585-1552del (n.1585-1556_1585-1552del) | gnomAD v4 |
21 | g.45504521_45504526del | CA2818084005 | COL18A1,SLC19A1 | c.3373_3378del (p.Gly1125_Pro1126del) c.2833_2838del (p.Gly945_Pro946del) c.874_879del (p.Gly292_Pro293del) c.4078_4083del (p.Gly1360_Pro1361del) c.498-5914_498-5909del c.1294-5914_1294-5909del (n.1294-5914_1294-5909del) c.1585-1557_1585-1552del (n.1585-1557_1585-1552del) | |
21 | g.45504521_45504527del | CA2654918405 | COL18A1,SLC19A1 | c.3373_3379del (p.Gly1125GlnfsTer?) c.2833_2839del (p.Gly945GlnfsTer?) c.874_880del (p.Gly292GlnfsTer?) c.4078_4084del (p.Gly1360GlnfsTer?) c.498-5915_498-5909del c.1294-5915_1294-5909del (n.1294-5915_1294-5909del) c.1585-1558_1585-1552del (n.1585-1558_1585-1552del) | gnomAD v4 |
21 | g.45504521_45504528del | CA645509361 | COL18A1,SLC19A1 | c.3373_3380del (p.Gly1125ArgfsTer?) c.2833_2840del (p.Gly945ArgfsTer?) c.874_881del (p.Gly292ArgfsTer?) c.4078_4085del (p.Gly1360ArgfsTer?) c.498-5916_498-5909del c.1294-5916_1294-5909del (n.1294-5916_1294-5909del) c.1585-1559_1585-1552del (n.1585-1559_1585-1552del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504521_45504528delinsGGCCCCCC | CA2392190763 | COL18A1,SLC19A1 | c.3373_3380delinsGGCCCCCC (p.Gly1125=) c.2833_2840delinsGGCCCCCC (p.Gly945=) c.874_881delinsGGCCCCCC (p.Gly292=) c.4078_4085delinsGGCCCCCC (p.Gly1360=) c.498-5916_498-5909delinsGGGGGGCC c.1294-5916_1294-5909delinsGGGGGGCC (n.1294-5916_1294-5909delinsGGGGGGCC) c.1585-1559_1585-1552delinsGGGGGGCC (n.1585-1559_1585-1552delinsGGGGGGCC) | |
21 | g.45504521_45504534delinsGGCCCCCCAGGCCC | CA2580615220 | COL18A1,SLC19A1 | c.3373_3386delinsGGCCCCCCAGGCCC (p.Gly1125=) c.2833_2846delinsGGCCCCCCAGGCCC (p.Gly945=) c.874_887delinsGGCCCCCCAGGCCC (p.Gly292=) c.4078_4091delinsGGCCCCCCAGGCCC (p.Gly1360=) c.498-5922_498-5909delinsGGGCCTGGGGGGCC c.1294-5922_1294-5909delinsGGGCCTGGGGGGCC (n.1294-5922_1294-5909delinsGGGCCTGGGGGGCC) c.1585-1565_1585-1552delinsGGGCCTGGGGGGCC (n.1585-1565_1585-1552delinsGGGCCTGGGGGGCC) | |
21 | g.45504524_45504541del | CA2573054949 | COL18A1,SLC19A1 | c.3376_3393del (p.Pro1126_Gly1131del) c.2836_2853del (p.Pro946_Gly951del) c.877_894del (p.Pro293_Gly298del) c.4081_4098del (p.Pro1361_Gly1366del) c.498-5926_498-5909del c.1294-5926_1294-5909del (n.1294-5926_1294-5909del) c.1585-1569_1585-1552del (n.1585-1569_1585-1552del) | ClinVar dbSNP gnomAD v4 |
21 | g.45504522G>A | CA410499291 | COL18A1,SLC19A1 | c.3374G>A (p.Gly1125Asp) c.2834G>A (p.Gly945Asp) c.875G>A (p.Gly292Asp) c.4079G>A (p.Gly1360Asp) c.498-5910C>T c.1294-5910C>T (n.1294-5910C>T) c.1585-1553C>T (n.1585-1553C>T) | |
21 | g.45504522G>C | CA410499292 | COL18A1,SLC19A1 | c.3374G>C (p.Gly1125Ala) c.2834G>C (p.Gly945Ala) c.875G>C (p.Gly292Ala) c.4079G>C (p.Gly1360Ala) c.498-5910C>G c.1294-5910C>G (n.1294-5910C>G) c.1585-1553C>G (n.1585-1553C>G) | |
21 | g.45504522G>T | CA410499293 | COL18A1,SLC19A1 | c.3374G>T (p.Gly1125Val) c.2834G>T (p.Gly945Val) c.875G>T (p.Gly292Val) c.4079G>T (p.Gly1360Val) c.498-5910C>A c.1294-5910C>A (n.1294-5910C>A) c.1585-1553C>A (n.1585-1553C>A) | |
21 | g.45504522_45504523del | CA2654918428 | COL18A1,SLC19A1 | c.3374_3375del (p.Gly1125AlafsTer?) c.2834_2835del (p.Gly945AlafsTer?) c.875_876del (p.Gly292AlafsTer?) c.4079_4080del (p.Gly1360AlafsTer?) c.498-5911_498-5910del c.1294-5911_1294-5910del (n.1294-5911_1294-5910del) c.1585-1554_1585-1553del (n.1585-1554_1585-1553del) | gnomAD v4 |
21 | g.45504522_45504528del | CA638497341 | COL18A1,SLC19A1 | c.3374_3380del (p.Gly1125GlufsTer?) c.2834_2840del (p.Gly945GlufsTer?) c.875_881del (p.Gly292GlufsTer?) c.4079_4085del (p.Gly1360GlufsTer?) c.498-5916_498-5910del c.1294-5916_1294-5910del (n.1294-5916_1294-5910del) c.1585-1559_1585-1553del (n.1585-1559_1585-1553del) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504523_45504530del | CA2737718769 | COL18A1,SLC19A1 | c.3375_3382del (p.Pro1127ThrfsTer?) c.2835_2842del (p.Pro947ThrfsTer?) c.876_883del (p.Pro294ThrfsTer?) c.4080_4087del (p.Pro1362ThrfsTer?) c.498-5917_498-5910del c.1294-5917_1294-5910del (n.1294-5917_1294-5910del) c.1585-1560_1585-1553del (n.1585-1560_1585-1553del) | dbSNP |
21 | g.45504522_45504532delinsA | CA2580098870 | COL18A1,SLC19A1 | c.3374_3384delinsA (p.Gly1125AspfsTer?) c.2834_2844delinsA (p.Gly945AspfsTer?) c.875_885delinsA (p.Gly292AspfsTer?) c.4079_4089delinsA (p.Gly1360AspfsTer?) c.498-5920_498-5910delinsT c.1294-5920_1294-5910delinsT (n.1294-5920_1294-5910delinsT) c.1585-1563_1585-1553delinsT (n.1585-1563_1585-1553delinsT) | ClinVar |
21 | g.45504523C>A | CA512687176 | COL18A1,SLC19A1 | c.3375C>A (p.Gly1125=) c.2835C>A (p.Gly945=) c.876C>A (p.Gly292=) c.4080C>A (p.Gly1360=) c.498-5911G>T c.1294-5911G>T (n.1294-5911G>T) c.1585-1554G>T (n.1585-1554G>T) | |
21 | g.45504523C= | CA2392190766 | COL18A1,SLC19A1 | c.3375C= (p.Gly1125=) c.2835C= (p.Gly945=) c.876C= (p.Gly292=) c.4080C= (p.Gly1360=) c.498-5911G= c.1294-5911G= (n.1294-5911G=) c.1585-1554G= (n.1585-1554G=) | |
21 | g.45504523C>G | CA512687178 | COL18A1,SLC19A1 | c.3375C>G (p.Gly1125=) c.2835C>G (p.Gly945=) c.876C>G (p.Gly292=) c.4080C>G (p.Gly1360=) c.498-5911G>C c.1294-5911G>C (n.1294-5911G>C) c.1585-1554G>C (n.1585-1554G>C) | gnomAD v4 |
21 | g.45504523C>T | CA512687177 | COL18A1,SLC19A1 | c.3375C>T (p.Gly1125=) c.2835C>T (p.Gly945=) c.876C>T (p.Gly292=) c.4080C>T (p.Gly1360=) c.498-5911G>A c.1294-5911G>A (n.1294-5911G>A) c.1585-1554G>A (n.1585-1554G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504523_45504528del | CA2654918440 | COL18A1,SLC19A1 | c.3375_3380del (p.Pro1126_Pro1127del) c.2835_2840del (p.Pro946_Pro947del) c.876_881del (p.Pro293_Pro294del) c.4080_4085del (p.Pro1361_Pro1362del) c.498-5916_498-5911del c.1294-5916_1294-5911del (n.1294-5916_1294-5911del) c.1585-1559_1585-1554del (n.1585-1559_1585-1554del) | gnomAD v4 |
21 | g.45504524_45504528del | CA2654918438 | COL18A1,SLC19A1 | c.3376_3380del (p.Pro1126ArgfsTer?) c.2836_2840del (p.Pro946ArgfsTer?) c.877_881del (p.Pro293ArgfsTer?) c.4081_4085del (p.Pro1361ArgfsTer?) c.498-5915_498-5911del c.1294-5915_1294-5911del (n.1294-5915_1294-5911del) c.1585-1558_1585-1554del (n.1585-1558_1585-1554del) | gnomAD v4 |
21 | g.45504523_45504529del | CA2654918442 | COL18A1,SLC19A1 | c.3375_3381del (p.Pro1126AlafsTer?) c.2835_2841del (p.Pro946AlafsTer?) c.876_882del (p.Pro293AlafsTer?) c.4080_4086del (p.Pro1361AlafsTer?) c.498-5917_498-5911del c.1294-5917_1294-5911del (n.1294-5917_1294-5911del) c.1585-1560_1585-1554del (n.1585-1560_1585-1554del) | gnomAD v4 |
21 | g.45504523_45504529delinsCCCCCCA | CA2392190764 | COL18A1,SLC19A1 | c.3375_3381delinsCCCCCCA (p.Gly1125=) c.2835_2841delinsCCCCCCA (p.Gly945=) c.876_882delinsCCCCCCA (p.Gly292=) c.4080_4086delinsCCCCCCA (p.Gly1360=) c.498-5917_498-5911delinsTGGGGGG c.1294-5917_1294-5911delinsTGGGGGG (n.1294-5917_1294-5911delinsTGGGGGG) c.1585-1560_1585-1554delinsTGGGGGG (n.1585-1560_1585-1554delinsTGGGGGG) | |
21 | g.45504523_45504531delinsCCCCCCAGG | CA2392190765 | COL18A1,SLC19A1 | c.3375_3383delinsCCCCCCAGG (p.Gly1125=) c.2835_2843delinsCCCCCCAGG (p.Gly945=) c.876_884delinsCCCCCCAGG (p.Gly292=) c.4080_4088delinsCCCCCCAGG (p.Gly1360=) c.498-5919_498-5911delinsCCTGGGGGG c.1294-5919_1294-5911delinsCCTGGGGGG (n.1294-5919_1294-5911delinsCCTGGGGGG) c.1585-1562_1585-1554delinsCCTGGGGGG (n.1585-1562_1585-1554delinsCCTGGGGGG) | |
21 | g.45504525_45504534del | CA2737718785 | COL18A1,SLC19A1 | c.3377_3386del (p.Pro1126HisfsTer?) c.2837_2846del (p.Pro946HisfsTer?) c.878_887del (p.Pro293HisfsTer?) c.4082_4091del (p.Pro1361HisfsTer?) c.498-5920_498-5911del c.1294-5920_1294-5911del (n.1294-5920_1294-5911del) c.1585-1563_1585-1554del (n.1585-1563_1585-1554del) | dbSNP |
21 | g.45504524C>A | CA410499295 | COL18A1,SLC19A1 | c.3376C>A (p.Pro1126Thr) c.2836C>A (p.Pro946Thr) c.877C>A (p.Pro293Thr) c.4081C>A (p.Pro1361Thr) c.498-5912G>T c.1294-5912G>T (n.1294-5912G>T) c.1585-1555G>T (n.1585-1555G>T) | |
21 | g.45504524C= | CA2392190767 | COL18A1,SLC19A1 | c.3376C= (p.Pro1126=) c.2836C= (p.Pro946=) c.877C= (p.Pro293=) c.4081C= (p.Pro1361=) c.498-5912G= c.1294-5912G= (n.1294-5912G=) c.1585-1555G= (n.1585-1555G=) | |
21 | g.45504524C>G | CA410499296 | COL18A1,SLC19A1 | c.3376C>G (p.Pro1126Ala) c.2836C>G (p.Pro946Ala) c.877C>G (p.Pro293Ala) c.4081C>G (p.Pro1361Ala) c.498-5912G>C c.1294-5912G>C (n.1294-5912G>C) c.1585-1555G>C (n.1585-1555G>C) | |
21 | g.45504524C>T | CA410499294 | COL18A1,SLC19A1 | c.3376C>T (p.Pro1126Ser) c.2836C>T (p.Pro946Ser) c.877C>T (p.Pro293Ser) c.4081C>T (p.Pro1361Ser) c.498-5912G>A c.1294-5912G>A (n.1294-5912G>A) c.1585-1555G>A (n.1585-1555G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504524_45504529del | CA10067504 | COL18A1,SLC19A1 | c.3376_3381del (p.Pro1126_Pro1127del) c.2836_2841del (p.Pro946_Pro947del) c.877_882del (p.Pro293_Pro294del) c.4081_4086del (p.Pro1361_Pro1362del) c.498-5917_498-5912del c.1294-5917_1294-5912del (n.1294-5917_1294-5912del) c.1585-1560_1585-1555del (n.1585-1560_1585-1555del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504527_45504534del | CA1022823893 | COL18A1,SLC19A1 | c.3379_3386del (p.Pro1127ThrfsTer?) c.2839_2846del (p.Pro947ThrfsTer?) c.880_887del (p.Pro294ThrfsTer?) c.4084_4091del (p.Pro1362ThrfsTer?) c.498-5919_498-5912del c.1294-5919_1294-5912del (n.1294-5919_1294-5912del) c.1585-1562_1585-1555del (n.1585-1562_1585-1555del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504525C>A | CA410499298 | COL18A1,SLC19A1 | c.3377C>A (p.Pro1126His) c.2837C>A (p.Pro946His) c.878C>A (p.Pro293His) c.4082C>A (p.Pro1361His) c.498-5913G>T c.1294-5913G>T (n.1294-5913G>T) c.3377C>A (p.Pro1126Gln) c.4082C>A (p.Pro1361Gln) c.2837C>A (p.Pro946Gln) c.1585-1556G>T (n.1585-1556G>T) | |
21 | g.45504525C= | CA2392190768 | COL18A1,SLC19A1 | c.3377C= (p.Pro1126=) c.2837C= (p.Pro946=) c.878C= (p.Pro293=) c.4082C= (p.Pro1361=) c.498-5913G= c.1294-5913G= (n.1294-5913G=) c.1585-1556G= (n.1585-1556G=) | |
21 | g.45504525C>G | CA410499297 | COL18A1,SLC19A1 | c.3377C>G (p.Pro1126Arg) c.2837C>G (p.Pro946Arg) c.878C>G (p.Pro293Arg) c.4082C>G (p.Pro1361Arg) c.498-5913G>C c.1294-5913G>C (n.1294-5913G>C) c.1585-1556G>C (n.1585-1556G>C) | |
21 | g.45504525C>T | CA10067505 | COL18A1,SLC19A1 | c.3377C>T (p.Pro1126Leu) c.2837C>T (p.Pro946Leu) c.878C>T (p.Pro293Leu) c.4082C>T (p.Pro1361Leu) c.498-5913G>A c.1294-5913G>A (n.1294-5913G>A) c.1585-1556G>A (n.1585-1556G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45504525_45504530del | CA1139769947 | COL18A1,SLC19A1 | c.3377_3382del (p.Pro1126_Gly1128delinsArg) c.2837_2842del (p.Pro946_Gly948delinsArg) c.878_883del (p.Pro293_Gly295delinsArg) c.4082_4087del (p.Pro1361_Gly1363delinsArg) c.498-5918_498-5913del c.1294-5918_1294-5913del (n.1294-5918_1294-5913del) c.1585-1561_1585-1556del (n.1585-1561_1585-1556del) | |
21 | g.45504526C>A | CA512687179 | COL18A1,SLC19A1 | c.3378C>A (p.Pro1126=) c.2838C>A (p.Pro946=) c.879C>A (p.Pro293=) c.4083C>A (p.Pro1361=) c.498-5914G>T c.1294-5914G>T (n.1294-5914G>T) c.1585-1557G>T (n.1585-1557G>T) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504526C= | CA2392190770 | COL18A1,SLC19A1 | c.3378C= (p.Pro1126=) c.2838C= (p.Pro946=) c.879C= (p.Pro293=) c.4083C= (p.Pro1361=) c.498-5914G= c.1294-5914G= (n.1294-5914G=) c.1585-1557G= (n.1585-1557G=) | |
21 | g.45504526C>G | CA512687180 | COL18A1,SLC19A1 | c.3378C>G (p.Pro1126=) c.2838C>G (p.Pro946=) c.879C>G (p.Pro293=) c.4083C>G (p.Pro1361=) c.498-5914G>C c.1294-5914G>C (n.1294-5914G>C) c.1585-1557G>C (n.1585-1557G>C) | |
21 | g.45504526C>T | CA10067506 | COL18A1,SLC19A1 | c.3378C>T (p.Pro1126=) c.2838C>T (p.Pro946=) c.879C>T (p.Pro293=) c.4083C>T (p.Pro1361=) c.498-5914G>A c.1294-5914G>A (n.1294-5914G>A) c.1585-1557G>A (n.1585-1557G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504526_45504535delinsCCCAGGCCCA | CA2392190769 | COL18A1,SLC19A1 | c.3378_3387delinsCCCAGGCCCA (p.Pro1126=) c.2838_2847delinsCCCAGGCCCA (p.Pro946=) c.879_888delinsCCCAGGCCCA (p.Pro293=) c.4083_4092delinsCCCAGGCCCA (p.Pro1361=) c.498-5923_498-5914delinsTGGGCCTGGG c.1294-5923_1294-5914delinsTGGGCCTGGG (n.1294-5923_1294-5914delinsTGGGCCTGGG) c.1585-1566_1585-1557delinsTGGGCCTGGG (n.1585-1566_1585-1557delinsTGGGCCTGGG) | |
21 | g.45504530_45504535del | CA1139771582 | COL18A1,SLC19A1 | c.3382_3387del (p.Gly1128_Pro1129del) c.2842_2847del (p.Gly948_Pro949del) c.883_888del (p.Gly295_Pro296del) c.4087_4092del (p.Gly1363_Pro1364del) c.498-5919_498-5914del c.1294-5919_1294-5914del (n.1294-5919_1294-5914del) c.1585-1562_1585-1557del (n.1585-1562_1585-1557del) | |
21 | g.45504527C>A | CA410499299 | COL18A1,SLC19A1 | c.3379C>A (p.Pro1127Thr) c.2839C>A (p.Pro947Thr) c.880C>A (p.Pro294Thr) c.4084C>A (p.Pro1362Thr) c.498-5915G>T c.1294-5915G>T (n.1294-5915G>T) c.1585-1558G>T (n.1585-1558G>T) | |
21 | g.45504527C= | CA2392190771 | COL18A1,SLC19A1 | c.3379C= (p.Pro1127=) c.2839C= (p.Pro947=) c.880C= (p.Pro294=) c.4084C= (p.Pro1362=) c.498-5915G= c.1294-5915G= (n.1294-5915G=) c.1585-1558G= (n.1585-1558G=) | |
21 | g.45504527C>G | CA410499300 | COL18A1,SLC19A1 | c.3379C>G (p.Pro1127Ala) c.2839C>G (p.Pro947Ala) c.880C>G (p.Pro294Ala) c.4084C>G (p.Pro1362Ala) c.498-5915G>C c.1294-5915G>C (n.1294-5915G>C) c.1585-1558G>C (n.1585-1558G>C) | |
21 | g.45504527C>T | CA410499301 | COL18A1,SLC19A1 | c.3379C>T (p.Pro1127Ser) c.2839C>T (p.Pro947Ser) c.880C>T (p.Pro294Ser) c.4084C>T (p.Pro1362Ser) c.498-5915G>A c.1294-5915G>A (n.1294-5915G>A) c.1585-1558G>A (n.1585-1558G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504528_45504536del | CA410499302 | COL18A1,SLC19A1 | c.3380_3388del (p.Pro1127_Pro1129del) c.2840_2848del (p.Pro947_Pro949del) c.881_889del (p.Pro294_Pro296del) c.4085_4093del (p.Pro1362_Pro1364del) c.498-5923_498-5915del c.1294-5923_1294-5915del (n.1294-5923_1294-5915del) c.1585-1566_1585-1558del (n.1585-1566_1585-1558del) | ClinVar dbSNP |
21 | g.45504528C>A | CA410499303 | COL18A1,SLC19A1 | c.3380C>A (p.Pro1127Gln) c.2840C>A (p.Pro947Gln) c.881C>A (p.Pro294Gln) c.4085C>A (p.Pro1362Gln) c.498-5916G>T c.1294-5916G>T (n.1294-5916G>T) c.1585-1559G>T (n.1585-1559G>T) | |
21 | g.45504528C>G | CA410499304 | COL18A1,SLC19A1 | c.3380C>G (p.Pro1127Arg) c.2840C>G (p.Pro947Arg) c.881C>G (p.Pro294Arg) c.4085C>G (p.Pro1362Arg) c.498-5916G>C c.1294-5916G>C (n.1294-5916G>C) c.1585-1559G>C (n.1585-1559G>C) | gnomAD v3 gnomAD v4 |
21 | g.45504528C>T | CA410499305 | COL18A1,SLC19A1 | c.3380C>T (p.Pro1127Leu) c.2840C>T (p.Pro947Leu) c.881C>T (p.Pro294Leu) c.4085C>T (p.Pro1362Leu) c.498-5916G>A c.1294-5916G>A (n.1294-5916G>A) c.1585-1559G>A (n.1585-1559G>A) | gnomAD v4 |
21 | g.45504529A= | CA2392190772 | COL18A1,SLC19A1 | c.3381A= (p.Pro1127=) c.2841A= (p.Pro947=) c.882A= (p.Pro294=) c.4086A= (p.Pro1362=) c.498-5917T= c.1294-5917T= (n.1294-5917T=) c.1585-1560T= (n.1585-1560T=) | |
21 | g.45504529A>C | CA10650647 | COL18A1,SLC19A1 | c.3381A>C (p.Pro1127=) c.2841A>C (p.Pro947=) c.882A>C (p.Pro294=) c.4086A>C (p.Pro1362=) c.498-5917T>G c.1294-5917T>G (n.1294-5917T>G) c.1585-1560T>G (n.1585-1560T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504529A>G | CA512687181 | COL18A1,SLC19A1 | c.3381A>G (p.Pro1127=) c.2841A>G (p.Pro947=) c.882A>G (p.Pro294=) c.4086A>G (p.Pro1362=) c.498-5917T>C c.1294-5917T>C (n.1294-5917T>C) c.1585-1560T>C (n.1585-1560T>C) | |
21 | g.45504529A>T | CA10067507 | COL18A1,SLC19A1 | c.3381A>T (p.Pro1127=) c.2841A>T (p.Pro947=) c.882A>T (p.Pro294=) c.4086A>T (p.Pro1362=) c.498-5917T>A c.1294-5917T>A (n.1294-5917T>A) c.1585-1560T>A (n.1585-1560T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504529_45504531del | CA2740094752 | COL18A1,SLC19A1 | c.3381_3383del (p.Gly1128del) c.2841_2843del (p.Gly948del) c.882_884del (p.Gly295del) c.4086_4088del (p.Gly1363del) c.498-5919_498-5917del c.1294-5919_1294-5917del (n.1294-5919_1294-5917del) c.1585-1562_1585-1560del (n.1585-1562_1585-1560del) | ClinVar |
21 | g.45504530G>A | CA410499308 | COL18A1,SLC19A1 | c.3382G>A (p.Gly1128Ser) c.2842G>A (p.Gly948Ser) c.883G>A (p.Gly295Ser) c.4087G>A (p.Gly1363Ser) c.498-5918C>T c.1294-5918C>T (n.1294-5918C>T) c.1585-1561C>T (n.1585-1561C>T) | dbSNP |
21 | g.45504530G>C | CA410499306 | COL18A1,SLC19A1 | c.3382G>C (p.Gly1128Arg) c.2842G>C (p.Gly948Arg) c.883G>C (p.Gly295Arg) c.4087G>C (p.Gly1363Arg) c.498-5918C>G c.1294-5918C>G (n.1294-5918C>G) c.1585-1561C>G (n.1585-1561C>G) | gnomAD v4 |
21 | g.45504530G= | CA2392190774 | COL18A1,SLC19A1 | c.3382G= (p.Gly1128=) c.2842G= (p.Gly948=) c.883G= (p.Gly295=) c.4087G= (p.Gly1363=) c.498-5918C= c.1294-5918C= (n.1294-5918C=) c.1585-1561C= (n.1585-1561C=) | |
21 | g.45504530G>T | CA410499307 | COL18A1,SLC19A1 | c.3382G>T (p.Gly1128Cys) c.2842G>T (p.Gly948Cys) c.883G>T (p.Gly295Cys) c.4087G>T (p.Gly1363Cys) c.498-5918C>A c.1294-5918C>A (n.1294-5918C>A) c.1585-1561C>A (n.1585-1561C>A) | |
21 | g.45504530_45504531del | CA2654918474 | COL18A1,SLC19A1 | c.3382_3383del (p.Gly1128ProfsTer?) c.2842_2843del (p.Gly948ProfsTer?) c.883_884del (p.Gly295ProfsTer?) c.4087_4088del (p.Gly1363ProfsTer?) c.498-5919_498-5918del c.1294-5919_1294-5918del (n.1294-5919_1294-5918del) c.1585-1562_1585-1561del (n.1585-1562_1585-1561del) | gnomAD v4 |
21 | g.45504530_45504532del | CA2654918475 | COL18A1,SLC19A1 | c.3382_3384del (p.Gly1128del) c.2842_2844del (p.Gly948del) c.883_885del (p.Gly295del) c.4087_4089del (p.Gly1363del) c.498-5920_498-5918del c.1294-5920_1294-5918del (n.1294-5920_1294-5918del) c.1585-1563_1585-1561del (n.1585-1563_1585-1561del) | gnomAD v4 |
21 | g.45504530_45504533del | CA2654918476 | COL18A1,SLC19A1 | c.3382_3385del (p.Gly1128HisfsTer?) c.2842_2845del (p.Gly948HisfsTer?) c.883_886del (p.Gly295HisfsTer?) c.4087_4090del (p.Gly1363HisfsTer?) c.498-5921_498-5918del c.1294-5921_1294-5918del (n.1294-5921_1294-5918del) c.1585-1564_1585-1561del (n.1585-1564_1585-1561del) | gnomAD v4 |
21 | g.45504530_45504533delinsGGCC | CA2392190773 | COL18A1,SLC19A1 | c.3382_3385delinsGGCC (p.Gly1128=) c.2842_2845delinsGGCC (p.Gly948=) c.883_886delinsGGCC (p.Gly295=) c.4087_4090delinsGGCC (p.Gly1363=) c.498-5921_498-5918delinsGGCC c.1294-5921_1294-5918delinsGGCC (n.1294-5921_1294-5918delinsGGCC) c.1585-1564_1585-1561delinsGGCC (n.1585-1564_1585-1561delinsGGCC) | |
21 | g.45504531G>A | CA410499309 | COL18A1,SLC19A1 | c.3383G>A (p.Gly1128Asp) c.2843G>A (p.Gly948Asp) c.884G>A (p.Gly295Asp) c.4088G>A (p.Gly1363Asp) c.498-5919C>T c.1294-5919C>T (n.1294-5919C>T) c.1585-1562C>T (n.1585-1562C>T) | |
21 | g.45504531G>C | CA410499310 | COL18A1,SLC19A1 | c.3383G>C (p.Gly1128Ala) c.2843G>C (p.Gly948Ala) c.884G>C (p.Gly295Ala) c.4088G>C (p.Gly1363Ala) c.498-5919C>G c.1294-5919C>G (n.1294-5919C>G) c.1585-1562C>G (n.1585-1562C>G) | dbSNP |
21 | g.45504531G= | CA2392190775 | COL18A1,SLC19A1 | c.3383G= (p.Gly1128=) c.2843G= (p.Gly948=) c.884G= (p.Gly295=) c.4088G= (p.Gly1363=) c.498-5919C= c.1294-5919C= (n.1294-5919C=) c.1585-1562C= (n.1585-1562C=) | |
21 | g.45504531G>T | CA410499311 | COL18A1,SLC19A1 | c.3383G>T (p.Gly1128Val) c.2843G>T (p.Gly948Val) c.884G>T (p.Gly295Val) c.4088G>T (p.Gly1363Val) c.498-5919C>A c.1294-5919C>A (n.1294-5919C>A) c.1585-1562C>A (n.1585-1562C>A) | |
21 | g.45504531_45504532del | CA2654918477 | COL18A1,SLC19A1 | c.3383_3384del (p.Gly1128AlafsTer?) c.2843_2844del (p.Gly948AlafsTer?) c.884_885del (p.Gly295AlafsTer?) c.4088_4089del (p.Gly1363AlafsTer?) c.498-5920_498-5919del c.1294-5920_1294-5919del (n.1294-5920_1294-5919del) c.1585-1563_1585-1562del (n.1585-1563_1585-1562del) | gnomAD v4 |
21 | g.45504531_45504533del | CA638497342 | COL18A1,SLC19A1 | c.3383_3385del (p.Gly1128_Pro1129delinsAla) c.2843_2845del (p.Gly948_Pro949delinsAla) c.884_886del (p.Gly295_Pro296delinsAla) c.4088_4090del (p.Gly1363_Pro1364delinsAla) c.498-5921_498-5919del c.1294-5921_1294-5919del (n.1294-5921_1294-5919del) c.1585-1564_1585-1562del (n.1585-1564_1585-1562del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504532C>A | CA512687184 | COL18A1,SLC19A1 | c.3384C>A (p.Gly1128=) c.2844C>A (p.Gly948=) c.885C>A (p.Gly295=) c.4089C>A (p.Gly1363=) c.498-5920G>T c.1294-5920G>T (n.1294-5920G>T) c.1585-1563G>T (n.1585-1563G>T) | ClinVar |
21 | g.45504532C= | CA2392190776 | COL18A1,SLC19A1 | c.3384C= (p.Gly1128=) c.2844C= (p.Gly948=) c.885C= (p.Gly295=) c.4089C= (p.Gly1363=) c.498-5920G= c.1294-5920G= (n.1294-5920G=) c.1585-1563G= (n.1585-1563G=) | |
21 | g.45504532C>G | CA512687183 | COL18A1,SLC19A1 | c.3384C>G (p.Gly1128=) c.2844C>G (p.Gly948=) c.885C>G (p.Gly295=) c.4089C>G (p.Gly1363=) c.498-5920G>C c.1294-5920G>C (n.1294-5920G>C) c.1585-1563G>C (n.1585-1563G>C) | |
21 | g.45504532C>T | CA512687182 | COL18A1,SLC19A1 | c.3384C>T (p.Gly1128=) c.2844C>T (p.Gly948=) c.885C>T (p.Gly295=) c.4089C>T (p.Gly1363=) c.498-5920G>A c.1294-5920G>A (n.1294-5920G>A) c.1585-1563G>A (n.1585-1563G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504533C>A | CA410499312 | COL18A1,SLC19A1 | c.3385C>A (p.Pro1129Thr) c.2845C>A (p.Pro949Thr) c.886C>A (p.Pro296Thr) c.4090C>A (p.Pro1364Thr) c.498-5921G>T c.1294-5921G>T (n.1294-5921G>T) c.1585-1564G>T (n.1585-1564G>T) | |
21 | g.45504533C= | CA2392190777 | COL18A1,SLC19A1 | c.3385C= (p.Pro1129=) c.2845C= (p.Pro949=) c.886C= (p.Pro296=) c.4090C= (p.Pro1364=) c.498-5921G= c.1294-5921G= (n.1294-5921G=) c.1585-1564G= (n.1585-1564G=) | |
21 | g.45504533C>G | CA410499313 | COL18A1,SLC19A1 | c.3385C>G (p.Pro1129Ala) c.2845C>G (p.Pro949Ala) c.886C>G (p.Pro296Ala) c.4090C>G (p.Pro1364Ala) c.498-5921G>C c.1294-5921G>C (n.1294-5921G>C) c.1585-1564G>C (n.1585-1564G>C) | ClinVar dbSNP |
21 | g.45504533C>T | CA410499314 | COL18A1,SLC19A1 | c.3385C>T (p.Pro1129Ser) c.2845C>T (p.Pro949Ser) c.886C>T (p.Pro296Ser) c.4090C>T (p.Pro1364Ser) c.498-5921G>A c.1294-5921G>A (n.1294-5921G>A) c.1585-1564G>A (n.1585-1564G>A) | |
21 | g.45504533_45504538del | CA2740094753 | COL18A1,SLC19A1 | c.3385_3390del (p.Pro1129_Arg1130del) c.2845_2850del (p.Pro949_Arg950del) c.886_891del (p.Pro296_Arg297del) c.4090_4095del (p.Pro1364_Arg1365del) c.498-5926_498-5921del c.1294-5926_1294-5921del (n.1294-5926_1294-5921del) c.1585-1569_1585-1564del (n.1585-1569_1585-1564del) | ClinVar |
21 | g.45504534C>A | CA410499315 | COL18A1,SLC19A1 | c.3386C>A (p.Pro1129Gln) c.2846C>A (p.Pro949Gln) c.887C>A (p.Pro296Gln) c.4091C>A (p.Pro1364Gln) c.498-5922G>T c.1294-5922G>T (n.1294-5922G>T) c.1585-1565G>T (n.1585-1565G>T) | |
21 | g.45504534C= | CA2392190778 | COL18A1,SLC19A1 | c.3386C= (p.Pro1129=) c.2846C= (p.Pro949=) c.887C= (p.Pro296=) c.4091C= (p.Pro1364=) c.498-5922G= c.1294-5922G= (n.1294-5922G=) c.1585-1565G= (n.1585-1565G=) | |
21 | g.45504534C>G | CA410499316 | COL18A1,SLC19A1 | c.3386C>G (p.Pro1129Arg) c.2846C>G (p.Pro949Arg) c.887C>G (p.Pro296Arg) c.4091C>G (p.Pro1364Arg) c.498-5922G>C c.1294-5922G>C (n.1294-5922G>C) c.1585-1565G>C (n.1585-1565G>C) | |
21 | g.45504534C>T | CA410499317 | COL18A1,SLC19A1 | c.3386C>T (p.Pro1129Leu) c.2846C>T (p.Pro949Leu) c.887C>T (p.Pro296Leu) c.4091C>T (p.Pro1364Leu) c.498-5922G>A c.1294-5922G>A (n.1294-5922G>A) c.1585-1565G>A (n.1585-1565G>A) | ClinVar dbSNP |
21 | g.45504535A>C | CA512687185 | COL18A1,SLC19A1 | c.3387A>C (p.Pro1129=) c.2847A>C (p.Pro949=) c.888A>C (p.Pro296=) c.4092A>C (p.Pro1364=) c.498-5923T>G c.1294-5923T>G (n.1294-5923T>G) c.3378A>C (p.Pro1126=) c.4083A>C (p.Pro1361=) c.2838A>C (p.Pro946=) c.1585-1566T>G (n.1585-1566T>G) | |
21 | g.45504535A>G | CA512687186 | COL18A1,SLC19A1 | c.3387A>G (p.Pro1129=) c.2847A>G (p.Pro949=) c.888A>G (p.Pro296=) c.4092A>G (p.Pro1364=) c.498-5923T>C c.1294-5923T>C (n.1294-5923T>C) c.3378A>G (p.Pro1126=) c.4083A>G (p.Pro1361=) c.2838A>G (p.Pro946=) c.1585-1566T>C (n.1585-1566T>C) | |
21 | g.45504535A>T | CA512687187 | COL18A1,SLC19A1 | c.3387A>T (p.Pro1129=) c.2847A>T (p.Pro949=) c.888A>T (p.Pro296=) c.4092A>T (p.Pro1364=) c.498-5923T>A c.1294-5923T>A (n.1294-5923T>A) c.3378A>T (p.Pro1126=) c.4083A>T (p.Pro1361=) c.2838A>T (p.Pro946=) c.1585-1566T>A (n.1585-1566T>A) | |
21 | g.45504535_45504543del | CA2740094754 | COL18A1,SLC19A1 | c.3387_3395del (p.Arg1130_Tyr1132del) c.2847_2855del (p.Arg950_Tyr952del) c.888_896del (p.Arg297_Tyr299del) c.4092_4100del (p.Arg1365_Tyr1367del) c.498-5931_498-5923del c.1294-5931_1294-5923del (n.1294-5931_1294-5923del) c.3378_3386del (p.Arg1127_Tyr1129del) c.4083_4091del (p.Arg1362_Tyr1364del) c.2838_2846del (p.Arg947_Tyr949del) c.1585-1574_1585-1566del (n.1585-1574_1585-1566del) | ClinVar |
21 | g.45504536C>A | CA410499318 | COL18A1,SLC19A1 | c.3388C>A (p.Arg1130Ser) c.2848C>A (p.Arg950Ser) c.889C>A (p.Arg297Ser) c.4093C>A (p.Arg1365Ser) c.498-5924G>T c.1294-5924G>T (n.1294-5924G>T) c.3379C>A (p.Arg1127Ser) c.4084C>A (p.Arg1362Ser) c.2839C>A (p.Arg947Ser) c.1585-1567G>T (n.1585-1567G>T) | gnomAD v4 |
21 | g.45504536C= | CA2392190779 | COL18A1,SLC19A1 | c.3388C= (p.Arg1130=) c.2848C= (p.Arg950=) c.889C= (p.Arg297=) c.4093C= (p.Arg1365=) c.498-5924G= c.1294-5924G= (n.1294-5924G=) c.3379C= (p.Arg1127=) c.4084C= (p.Arg1362=) c.2839C= (p.Arg947=) c.1585-1567G= (n.1585-1567G=) | |
21 | g.45504536C>G | CA410499319 | COL18A1,SLC19A1 | c.3388C>G (p.Arg1130Gly) c.2848C>G (p.Arg950Gly) c.889C>G (p.Arg297Gly) c.4093C>G (p.Arg1365Gly) c.498-5924G>C c.1294-5924G>C (n.1294-5924G>C) c.3379C>G (p.Arg1127Gly) c.4084C>G (p.Arg1362Gly) c.2839C>G (p.Arg947Gly) c.1585-1567G>C (n.1585-1567G>C) | |
21 | g.45504536C>T | CA10067508 | COL18A1,SLC19A1 | c.3388C>T (p.Arg1130Cys) c.2848C>T (p.Arg950Cys) c.889C>T (p.Arg297Cys) c.4093C>T (p.Arg1365Cys) c.498-5924G>A c.1294-5924G>A (n.1294-5924G>A) c.3379C>T (p.Arg1127Cys) c.4084C>T (p.Arg1362Cys) c.2839C>T (p.Arg947Cys) c.1585-1567G>A (n.1585-1567G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504537G>A | CA10067509 | COL18A1,SLC19A1 | c.3389G>A (p.Arg1130His) c.2849G>A (p.Arg950His) c.890G>A (p.Arg297His) c.4094G>A (p.Arg1365His) c.498-5925C>T c.1294-5925C>T (n.1294-5925C>T) c.3380G>A (p.Arg1127His) c.4085G>A (p.Arg1362His) c.2840G>A (p.Arg947His) c.1585-1568C>T (n.1585-1568C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504537G>C | CA410499321 | COL18A1,SLC19A1 | c.3389G>C (p.Arg1130Pro) c.2849G>C (p.Arg950Pro) c.890G>C (p.Arg297Pro) c.4094G>C (p.Arg1365Pro) c.498-5925C>G c.1294-5925C>G (n.1294-5925C>G) c.3380G>C (p.Arg1127Pro) c.4085G>C (p.Arg1362Pro) c.2840G>C (p.Arg947Pro) c.1585-1568C>G (n.1585-1568C>G) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.45504537G= | CA2392190780 | COL18A1,SLC19A1 | c.3389G= (p.Arg1130=) c.2849G= (p.Arg950=) c.890G= (p.Arg297=) c.4094G= (p.Arg1365=) c.498-5925C= c.1294-5925C= (n.1294-5925C=) c.3380G= (p.Arg1127=) c.4085G= (p.Arg1362=) c.2840G= (p.Arg947=) c.1585-1568C= (n.1585-1568C=) | |
21 | g.45504537G>T | CA410499320 | COL18A1,SLC19A1 | c.3389G>T (p.Arg1130Leu) c.2849G>T (p.Arg950Leu) c.890G>T (p.Arg297Leu) c.4094G>T (p.Arg1365Leu) c.498-5925C>A c.1294-5925C>A (n.1294-5925C>A) c.3380G>T (p.Arg1127Leu) c.4085G>T (p.Arg1362Leu) c.2840G>T (p.Arg947Leu) c.1585-1568C>A (n.1585-1568C>A) | |
21 | g.45504538T>A | CA512687190 | COL18A1,SLC19A1 | c.3390T>A (p.Arg1130=) c.2850T>A (p.Arg950=) c.891T>A (p.Arg297=) c.4095T>A (p.Arg1365=) c.498-5926A>T c.1294-5926A>T (n.1294-5926A>T) c.3381T>A (p.Arg1127=) c.4086T>A (p.Arg1362=) c.2841T>A (p.Arg947=) c.1585-1569A>T (n.1585-1569A>T) | gnomAD v4 |
21 | g.45504538T>C | CA512687189 | COL18A1,SLC19A1 | c.3390T>C (p.Arg1130=) c.2850T>C (p.Arg950=) c.891T>C (p.Arg297=) c.4095T>C (p.Arg1365=) c.498-5926A>G c.1294-5926A>G (n.1294-5926A>G) c.3381T>C (p.Arg1127=) c.4086T>C (p.Arg1362=) c.2841T>C (p.Arg947=) c.1585-1569A>G (n.1585-1569A>G) | |
21 | g.45504538T>G | CA512687188 | COL18A1,SLC19A1 | c.3390T>G (p.Arg1130=) c.2850T>G (p.Arg950=) c.891T>G (p.Arg297=) c.4095T>G (p.Arg1365=) c.498-5926A>C c.1294-5926A>C (n.1294-5926A>C) c.3381T>G (p.Arg1127=) c.4086T>G (p.Arg1362=) c.2841T>G (p.Arg947=) c.1585-1569A>C (n.1585-1569A>C) | gnomAD v4 |
21 | g.45504539G>A | CA410499322 | COL18A1,SLC19A1 | c.3391G>A (p.Gly1131Ser) c.2851G>A (p.Gly951Ser) c.892G>A (p.Gly298Ser) c.4096G>A (p.Gly1366Ser) c.498-5927C>T c.1294-5927C>T (n.1294-5927C>T) c.3382G>A (p.Gly1128Ser) c.4087G>A (p.Gly1363Ser) c.2842G>A (p.Gly948Ser) c.1585-1570C>T (n.1585-1570C>T) | |
21 | g.45504539G>C | CA410499323 | COL18A1,SLC19A1 | c.3391G>C (p.Gly1131Arg) c.2851G>C (p.Gly951Arg) c.892G>C (p.Gly298Arg) c.4096G>C (p.Gly1366Arg) c.498-5927C>G c.1294-5927C>G (n.1294-5927C>G) c.3382G>C (p.Gly1128Arg) c.4087G>C (p.Gly1363Arg) c.2842G>C (p.Gly948Arg) c.1585-1570C>G (n.1585-1570C>G) | |
21 | g.45504539G>T | CA410499324 | COL18A1,SLC19A1 | c.3391G>T (p.Gly1131Cys) c.2851G>T (p.Gly951Cys) c.892G>T (p.Gly298Cys) c.4096G>T (p.Gly1366Cys) c.498-5927C>A c.1294-5927C>A (n.1294-5927C>A) c.3382G>T (p.Gly1128Cys) c.4087G>T (p.Gly1363Cys) c.2842G>T (p.Gly948Cys) c.1585-1570C>A (n.1585-1570C>A) | |
21 | g.45504540del | CA2654918485 | COL18A1,SLC19A1 | c.3392del (p.Gly1131AlafsTer?) c.2852del (p.Gly951AlafsTer?) c.893del (p.Gly298AlafsTer?) c.4097del (p.Gly1366AlafsTer?) c.498-5927del c.1294-5927del (n.1294-5927del) c.3383del (p.Gly1128AlafsTer?) c.4088del (p.Gly1363AlafsTer?) c.2843del (p.Gly948AlafsTer?) c.1585-1570del (n.1585-1570del) | gnomAD v4 |
21 | g.45504540G>A | CA410499325 | COL18A1,SLC19A1 | c.3392G>A (p.Gly1131Asp) c.2852G>A (p.Gly951Asp) c.893G>A (p.Gly298Asp) c.4097G>A (p.Gly1366Asp) c.498-5928C>T c.1294-5928C>T (n.1294-5928C>T) c.3383G>A (p.Gly1128Asp) c.4088G>A (p.Gly1363Asp) c.2843G>A (p.Gly948Asp) c.1585-1571C>T (n.1585-1571C>T) | |
21 | g.45504540G>C | CA410499326 | COL18A1,SLC19A1 | c.3392G>C (p.Gly1131Ala) c.2852G>C (p.Gly951Ala) c.893G>C (p.Gly298Ala) c.4097G>C (p.Gly1366Ala) c.498-5928C>G c.1294-5928C>G (n.1294-5928C>G) c.3383G>C (p.Gly1128Ala) c.4088G>C (p.Gly1363Ala) c.2843G>C (p.Gly948Ala) c.1585-1571C>G (n.1585-1571C>G) | |
21 | g.45504540G>T | CA410499327 | COL18A1,SLC19A1 | c.3392G>T (p.Gly1131Val) c.2852G>T (p.Gly951Val) c.893G>T (p.Gly298Val) c.4097G>T (p.Gly1366Val) c.498-5928C>A c.1294-5928C>A (n.1294-5928C>A) c.3383G>T (p.Gly1128Val) c.4088G>T (p.Gly1363Val) c.2843G>T (p.Gly948Val) c.1585-1571C>A (n.1585-1571C>A) | gnomAD v4 |
21 | g.45504541C>A | CA512687191 | COL18A1,SLC19A1 | c.3393C>A (p.Gly1131=) c.2853C>A (p.Gly951=) c.894C>A (p.Gly298=) c.4098C>A (p.Gly1366=) c.498-5929G>T c.1294-5929G>T (n.1294-5929G>T) c.3384C>A (p.Gly1128=) c.4089C>A (p.Gly1363=) c.2844C>A (p.Gly948=) c.1585-1572G>T (n.1585-1572G>T) | gnomAD v4 |
21 | g.45504541C>G | CA512687192 | COL18A1,SLC19A1 | c.3393C>G (p.Gly1131=) c.2853C>G (p.Gly951=) c.894C>G (p.Gly298=) c.4098C>G (p.Gly1366=) c.498-5929G>C c.1294-5929G>C (n.1294-5929G>C) c.3384C>G (p.Gly1128=) c.4089C>G (p.Gly1363=) c.2844C>G (p.Gly948=) c.1585-1572G>C (n.1585-1572G>C) | gnomAD v4 |
21 | g.45504541C>T | CA512687193 | COL18A1,SLC19A1 | c.3393C>T (p.Gly1131=) c.2853C>T (p.Gly951=) c.894C>T (p.Gly298=) c.4098C>T (p.Gly1366=) c.498-5929G>A c.1294-5929G>A (n.1294-5929G>A) c.3384C>T (p.Gly1128=) c.4089C>T (p.Gly1363=) c.2844C>T (p.Gly948=) c.1585-1572G>A (n.1585-1572G>A) | ClinVar dbSNP gnomAD v4 |
21 | g.45504542T>A | CA410499330 | COL18A1,SLC19A1 | c.3394T>A (p.Tyr1132Asn) c.2854T>A (p.Tyr952Asn) c.895T>A (p.Tyr299Asn) c.4099T>A (p.Tyr1367Asn) c.498-5930A>T c.1294-5930A>T (n.1294-5930A>T) c.3385T>A (p.Tyr1129Asn) c.4090T>A (p.Tyr1364Asn) c.2845T>A (p.Tyr949Asn) c.1585-1573A>T (n.1585-1573A>T) | gnomAD v4 |
21 | g.45504542T>C | CA410499328 | COL18A1,SLC19A1 | c.3394T>C (p.Tyr1132His) c.2854T>C (p.Tyr952His) c.895T>C (p.Tyr299His) c.4099T>C (p.Tyr1367His) c.498-5930A>G c.1294-5930A>G (n.1294-5930A>G) c.3385T>C (p.Tyr1129His) c.4090T>C (p.Tyr1364His) c.2845T>C (p.Tyr949His) c.1585-1573A>G (n.1585-1573A>G) | |
21 | g.45504542T>G | CA410499329 | COL18A1,SLC19A1 | c.3394T>G (p.Tyr1132Asp) c.2854T>G (p.Tyr952Asp) c.895T>G (p.Tyr299Asp) c.4099T>G (p.Tyr1367Asp) c.498-5930A>C c.1294-5930A>C (n.1294-5930A>C) c.3385T>G (p.Tyr1129Asp) c.4090T>G (p.Tyr1364Asp) c.2845T>G (p.Tyr949Asp) c.1585-1573A>C (n.1585-1573A>C) | |
21 | g.45504543A>C | CA410499331 | COL18A1,SLC19A1 | c.3395A>C (p.Tyr1132Ser) c.2855A>C (p.Tyr952Ser) c.896A>C (p.Tyr299Ser) c.4100A>C (p.Tyr1367Ser) c.498-5931T>G c.1294-5931T>G (n.1294-5931T>G) c.3386A>C (p.Tyr1129Ser) c.4091A>C (p.Tyr1364Ser) c.2846A>C (p.Tyr949Ser) c.1585-1574T>G (n.1585-1574T>G) | |
21 | g.45504543A>G | CA410499332 | COL18A1,SLC19A1 | c.3395A>G (p.Tyr1132Cys) c.2855A>G (p.Tyr952Cys) c.896A>G (p.Tyr299Cys) c.4100A>G (p.Tyr1367Cys) c.498-5931T>C c.1294-5931T>C (n.1294-5931T>C) c.3386A>G (p.Tyr1129Cys) c.4091A>G (p.Tyr1364Cys) c.2846A>G (p.Tyr949Cys) c.1585-1574T>C (n.1585-1574T>C) | |
21 | g.45504543A>T | CA410499333 | COL18A1,SLC19A1 | c.3395A>T (p.Tyr1132Phe) c.2855A>T (p.Tyr952Phe) c.896A>T (p.Tyr299Phe) c.4100A>T (p.Tyr1367Phe) c.498-5931T>A c.1294-5931T>A (n.1294-5931T>A) c.3386A>T (p.Tyr1129Phe) c.4091A>T (p.Tyr1364Phe) c.2846A>T (p.Tyr949Phe) c.1585-1574T>A (n.1585-1574T>A) | |
21 | g.45504544C>A | CA410499334 | COL18A1,SLC19A1 | c.3396C>A (p.Tyr1132Ter) c.2856C>A (p.Tyr952Ter) c.897C>A (p.Tyr299Ter) c.4101C>A (p.Tyr1367Ter) c.498-5932G>T c.1294-5932G>T (n.1294-5932G>T) c.3387C>A (p.Tyr1129Ter) c.4092C>A (p.Tyr1364Ter) c.2847C>A (p.Tyr949Ter) c.1585-1575G>T (n.1585-1575G>T) | |
21 | g.45504544C= | CA2392190781 | COL18A1,SLC19A1 | c.3396C= (p.Tyr1132=) c.2856C= (p.Tyr952=) c.897C= (p.Tyr299=) c.4101C= (p.Tyr1367=) c.498-5932G= c.1294-5932G= (n.1294-5932G=) c.3387C= (p.Tyr1129=) c.4092C= (p.Tyr1364=) c.2847C= (p.Tyr949=) c.1585-1575G= (n.1585-1575G=) | |
21 | g.45504544C>G | CA410499335 | COL18A1,SLC19A1 | c.3396C>G (p.Tyr1132Ter) c.2856C>G (p.Tyr952Ter) c.897C>G (p.Tyr299Ter) c.4101C>G (p.Tyr1367Ter) c.498-5932G>C c.1294-5932G>C (n.1294-5932G>C) c.3387C>G (p.Tyr1129Ter) c.4092C>G (p.Tyr1364Ter) c.2847C>G (p.Tyr949Ter) c.1585-1575G>C (n.1585-1575G>C) | |
21 | g.45504544C>T | CA512687194 | COL18A1,SLC19A1 | c.3396C>T (p.Tyr1132=) c.2856C>T (p.Tyr952=) c.897C>T (p.Tyr299=) c.4101C>T (p.Tyr1367=) c.498-5932G>A c.1294-5932G>A (n.1294-5932G>A) c.3387C>T (p.Tyr1129=) c.4092C>T (p.Tyr1364=) c.2847C>T (p.Tyr949=) c.1585-1575G>A (n.1585-1575G>A) | dbSNP gnomAD v4 |
21 | g.45504545C>A | CA410499336 | COL18A1,SLC19A1 | c.3397C>A (p.Pro1133Thr) c.2857C>A (p.Pro953Thr) c.898C>A (p.Pro300Thr) c.4102C>A (p.Pro1368Thr) c.498-5933G>T c.1294-5933G>T (n.1294-5933G>T) c.3388C>A (p.Pro1130Thr) c.4093C>A (p.Pro1365Thr) c.2848C>A (p.Pro950Thr) c.1585-1576G>T (n.1585-1576G>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504545C= | CA2392190782 | COL18A1,SLC19A1 | c.3397C= (p.Pro1133=) c.2857C= (p.Pro953=) c.898C= (p.Pro300=) c.4102C= (p.Pro1368=) c.498-5933G= c.1294-5933G= (n.1294-5933G=) c.3388C= (p.Pro1130=) c.4093C= (p.Pro1365=) c.2848C= (p.Pro950=) c.1585-1576G= (n.1585-1576G=) | |
21 | g.45504545C>G | CA410499337 | COL18A1,SLC19A1 | c.3397C>G (p.Pro1133Ala) c.2857C>G (p.Pro953Ala) c.898C>G (p.Pro300Ala) c.4102C>G (p.Pro1368Ala) c.498-5933G>C c.1294-5933G>C (n.1294-5933G>C) c.3388C>G (p.Pro1130Ala) c.4093C>G (p.Pro1365Ala) c.2848C>G (p.Pro950Ala) c.1585-1576G>C (n.1585-1576G>C) | |
21 | g.45504545C>T | CA10067510 | COL18A1,SLC19A1 | c.3397C>T (p.Pro1133Ser) c.2857C>T (p.Pro953Ser) c.898C>T (p.Pro300Ser) c.4102C>T (p.Pro1368Ser) c.498-5933G>A c.1294-5933G>A (n.1294-5933G>A) c.3388C>T (p.Pro1130Ser) c.4093C>T (p.Pro1365Ser) c.2848C>T (p.Pro950Ser) c.1585-1576G>A (n.1585-1576G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504546C>A | CA410499338 | COL18A1,SLC19A1 | c.3398C>A (p.Pro1133His) c.2858C>A (p.Pro953His) c.899C>A (p.Pro300His) c.4103C>A (p.Pro1368His) c.498-5934G>T c.1294-5934G>T (n.1294-5934G>T) c.3389C>A (p.Pro1130His) c.4094C>A (p.Pro1365His) c.2849C>A (p.Pro950His) c.1585-1577G>T (n.1585-1577G>T) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504546C= | CA2392190783 | COL18A1,SLC19A1 | c.3398C= (p.Pro1133=) c.2858C= (p.Pro953=) c.899C= (p.Pro300=) c.4103C= (p.Pro1368=) c.498-5934G= c.1294-5934G= (n.1294-5934G=) c.3389C= (p.Pro1130=) c.4094C= (p.Pro1365=) c.2849C= (p.Pro950=) c.1585-1577G= (n.1585-1577G=) | |
21 | g.45504546C>G | CA410499339 | COL18A1,SLC19A1 | c.3398C>G (p.Pro1133Arg) c.2858C>G (p.Pro953Arg) c.899C>G (p.Pro300Arg) c.4103C>G (p.Pro1368Arg) c.498-5934G>C c.1294-5934G>C (n.1294-5934G>C) c.3389C>G (p.Pro1130Arg) c.4094C>G (p.Pro1365Arg) c.2849C>G (p.Pro950Arg) c.1585-1577G>C (n.1585-1577G>C) | |
21 | g.45504546C>T | CA410499340 | COL18A1,SLC19A1 | c.3398C>T (p.Pro1133Leu) c.2858C>T (p.Pro953Leu) c.899C>T (p.Pro300Leu) c.4103C>T (p.Pro1368Leu) c.498-5934G>A c.1294-5934G>A (n.1294-5934G>A) c.3389C>T (p.Pro1130Leu) c.4094C>T (p.Pro1365Leu) c.2849C>T (p.Pro950Leu) c.1585-1577G>A (n.1585-1577G>A) | |
21 | g.45504547T>A | CA512687195 | COL18A1,SLC19A1 | c.3399T>A (p.Pro1133=) c.2859T>A (p.Pro953=) c.900T>A (p.Pro300=) c.4104T>A (p.Pro1368=) c.498-5935A>T c.1294-5935A>T (n.1294-5935A>T) c.3390T>A (p.Pro1130=) c.4095T>A (p.Pro1365=) c.2850T>A (p.Pro950=) c.1585-1578A>T (n.1585-1578A>T) | gnomAD v4 |
21 | g.45504547T>C | CA10067511 | COL18A1,SLC19A1 | c.3399T>C (p.Pro1133=) c.2859T>C (p.Pro953=) c.900T>C (p.Pro300=) c.4104T>C (p.Pro1368=) c.498-5935A>G c.1294-5935A>G (n.1294-5935A>G) c.3390T>C (p.Pro1130=) c.4095T>C (p.Pro1365=) c.2850T>C (p.Pro950=) c.1585-1578A>G (n.1585-1578A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45504547T>G | CA512687196 | COL18A1,SLC19A1 | c.3399T>G (p.Pro1133=) c.2859T>G (p.Pro953=) c.900T>G (p.Pro300=) c.4104T>G (p.Pro1368=) c.498-5935A>C c.1294-5935A>C (n.1294-5935A>C) c.3390T>G (p.Pro1130=) c.4095T>G (p.Pro1365=) c.2850T>G (p.Pro950=) c.1585-1578A>C (n.1585-1578A>C) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504547T= | CA2392190784 | COL18A1,SLC19A1 | c.3399T= (p.Pro1133=) c.2859T= (p.Pro953=) c.900T= (p.Pro300=) c.4104T= (p.Pro1368=) c.498-5935A= c.1294-5935A= (n.1294-5935A=) c.3390T= (p.Pro1130=) c.4095T= (p.Pro1365=) c.2850T= (p.Pro950=) c.1585-1578A= (n.1585-1578A=) | |
21 | g.45504548G>A | CA410499341 | COL18A1,SLC19A1 | c.3400G>A (p.Gly1134Arg) c.2860G>A (p.Gly954Arg) c.901G>A (p.Gly301Arg) c.4105G>A (p.Gly1369Arg) c.498-5936C>T c.1294-5936C>T (n.1294-5936C>T) c.3391G>A (p.Gly1131Arg) c.4096G>A (p.Gly1366Arg) c.2851G>A (p.Gly951Arg) c.1585-1579C>T (n.1585-1579C>T) | |
21 | g.45504548G>C | CA410499342 | COL18A1,SLC19A1 | c.3400G>C (p.Gly1134Arg) c.2860G>C (p.Gly954Arg) c.901G>C (p.Gly301Arg) c.4105G>C (p.Gly1369Arg) c.498-5936C>G c.1294-5936C>G (n.1294-5936C>G) c.3391G>C (p.Gly1131Arg) c.4096G>C (p.Gly1366Arg) c.2851G>C (p.Gly951Arg) c.1585-1579C>G (n.1585-1579C>G) | |
21 | g.45504548G>T | CA410499343 | COL18A1,SLC19A1 | c.3400G>T (p.Gly1134Trp) c.2860G>T (p.Gly954Trp) c.901G>T (p.Gly301Trp) c.4105G>T (p.Gly1369Trp) c.498-5936C>A c.1294-5936C>A (n.1294-5936C>A) c.3391G>T (p.Gly1131Trp) c.4096G>T (p.Gly1366Trp) c.2851G>T (p.Gly951Trp) c.1585-1579C>A (n.1585-1579C>A) | |
21 | g.45504550dup | CA2654918504 | COL18A1,SLC19A1 | c.3402dup (p.Ile1135AspfsTer?) c.2862dup (p.Ile955AspfsTer?) c.903dup (p.Ile302AspfsTer?) c.4107dup (p.Ile1370AspfsTer?) c.498-5936dup c.1294-5936dup (n.1294-5936dup) c.3393dup (p.Ile1132AspfsTer?) c.4098dup (p.Ile1367AspfsTer?) c.2853dup (p.Ile952AspfsTer?) c.1585-1579dup (n.1585-1579dup) | gnomAD v4 |
21 | g.45504549G>A | CA410499344 | COL18A1,SLC19A1 | c.3401G>A (p.Gly1134Glu) c.2861G>A (p.Gly954Glu) c.902G>A (p.Gly301Glu) c.4106G>A (p.Gly1369Glu) c.498-5937C>T c.1294-5937C>T (n.1294-5937C>T) c.3392G>A (p.Gly1131Glu) c.4097G>A (p.Gly1366Glu) c.2852G>A (p.Gly951Glu) c.1585-1580C>T (n.1585-1580C>T) | |
21 | g.45504549G>C | CA410499345 | COL18A1,SLC19A1 | c.3401G>C (p.Gly1134Ala) c.2861G>C (p.Gly954Ala) c.902G>C (p.Gly301Ala) c.4106G>C (p.Gly1369Ala) c.498-5937C>G c.1294-5937C>G (n.1294-5937C>G) c.3392G>C (p.Gly1131Ala) c.4097G>C (p.Gly1366Ala) c.2852G>C (p.Gly951Ala) c.1585-1580C>G (n.1585-1580C>G) | |
21 | g.45504549G>T | CA410499346 | COL18A1,SLC19A1 | c.3401G>T (p.Gly1134Val) c.2861G>T (p.Gly954Val) c.902G>T (p.Gly301Val) c.4106G>T (p.Gly1369Val) c.498-5937C>A c.1294-5937C>A (n.1294-5937C>A) c.3392G>T (p.Gly1131Val) c.4097G>T (p.Gly1366Val) c.2852G>T (p.Gly951Val) c.1585-1580C>A (n.1585-1580C>A) | gnomAD v4 |
21 | g.45504550G>A | CA512687197 | COL18A1,SLC19A1 | c.3402G>A (p.Gly1134=) c.2862G>A (p.Gly954=) c.903G>A (p.Gly301=) c.4107G>A (p.Gly1369=) c.498-5938C>T c.1294-5938C>T (n.1294-5938C>T) c.3393G>A (p.Gly1131=) c.4098G>A (p.Gly1366=) c.2853G>A (p.Gly951=) c.1585-1581C>T (n.1585-1581C>T) | |
21 | g.45504550G>C | CA512687198 | COL18A1,SLC19A1 | c.3402G>C (p.Gly1134=) c.2862G>C (p.Gly954=) c.903G>C (p.Gly301=) c.4107G>C (p.Gly1369=) c.498-5938C>G c.1294-5938C>G (n.1294-5938C>G) c.3393G>C (p.Gly1131=) c.4098G>C (p.Gly1366=) c.2853G>C (p.Gly951=) c.1585-1581C>G (n.1585-1581C>G) | |
21 | g.45504550G>T | CA512687199 | COL18A1,SLC19A1 | c.3402G>T (p.Gly1134=) c.2862G>T (p.Gly954=) c.903G>T (p.Gly301=) c.4107G>T (p.Gly1369=) c.498-5938C>A c.1294-5938C>A (n.1294-5938C>A) c.3393G>T (p.Gly1131=) c.4098G>T (p.Gly1366=) c.2853G>T (p.Gly951=) c.1585-1581C>A (n.1585-1581C>A) | |
21 | g.45504551A>C | CA410499347 | COL18A1,SLC19A1 | c.3403A>C (p.Ile1135Leu) c.2863A>C (p.Ile955Leu) c.904A>C (p.Ile302Leu) c.4108A>C (p.Ile1370Leu) c.498-5939T>G c.1294-5939T>G (n.1294-5939T>G) c.3394A>C (p.Ile1132Leu) c.4099A>C (p.Ile1367Leu) c.2854A>C (p.Ile952Leu) c.1585-1582T>G (n.1585-1582T>G) | |
21 | g.45504551A>G | CA410499348 | COL18A1,SLC19A1 | c.3403A>G (p.Ile1135Val) c.2863A>G (p.Ile955Val) c.904A>G (p.Ile302Val) c.4108A>G (p.Ile1370Val) c.498-5939T>C c.1294-5939T>C (n.1294-5939T>C) c.3394A>G (p.Ile1132Val) c.4099A>G (p.Ile1367Val) c.2854A>G (p.Ile952Val) c.1585-1582T>C (n.1585-1582T>C) | |
21 | g.45504551A>T | CA410499349 | COL18A1,SLC19A1 | c.3403A>T (p.Ile1135Phe) c.2863A>T (p.Ile955Phe) c.904A>T (p.Ile302Phe) c.4108A>T (p.Ile1370Phe) c.498-5939T>A c.1294-5939T>A (n.1294-5939T>A) c.3394A>T (p.Ile1132Phe) c.4099A>T (p.Ile1367Phe) c.2854A>T (p.Ile952Phe) c.1585-1582T>A (n.1585-1582T>A) | |
21 | g.45504552T>A | CA410499351 | COL18A1,SLC19A1 | c.3404T>A (p.Ile1135Asn) c.2864T>A (p.Ile955Asn) c.905T>A (p.Ile302Asn) c.4109T>A (p.Ile1370Asn) c.498-5940A>T c.1294-5940A>T (n.1294-5940A>T) c.3395T>A (p.Ile1132Asn) c.4100T>A (p.Ile1367Asn) c.2855T>A (p.Ile952Asn) c.1585-1583A>T (n.1585-1583A>T) | |
21 | g.45504552T>C | CA410499352 | COL18A1,SLC19A1 | c.3404T>C (p.Ile1135Thr) c.2864T>C (p.Ile955Thr) c.905T>C (p.Ile302Thr) c.4109T>C (p.Ile1370Thr) c.498-5940A>G c.1294-5940A>G (n.1294-5940A>G) c.3395T>C (p.Ile1132Thr) c.4100T>C (p.Ile1367Thr) c.2855T>C (p.Ile952Thr) c.1585-1583A>G (n.1585-1583A>G) | |
21 | g.45504552T>G | CA410499350 | COL18A1,SLC19A1 | c.3404T>G (p.Ile1135Ser) c.2864T>G (p.Ile955Ser) c.905T>G (p.Ile302Ser) c.4109T>G (p.Ile1370Ser) c.498-5940A>C c.1294-5940A>C (n.1294-5940A>C) c.3395T>G (p.Ile1132Ser) c.4100T>G (p.Ile1367Ser) c.2855T>G (p.Ile952Ser) c.1585-1583A>C (n.1585-1583A>C) | |
21 | g.45504553T>A | CA512687200 | COL18A1,SLC19A1 | c.3405T>A (p.Ile1135=) c.2865T>A (p.Ile955=) c.906T>A (p.Ile302=) c.4110T>A (p.Ile1370=) c.498-5941A>T c.1294-5941A>T (n.1294-5941A>T) c.3396T>A (p.Ile1132=) c.4101T>A (p.Ile1367=) c.2856T>A (p.Ile952=) c.1585-1584A>T (n.1585-1584A>T) | |
21 | g.45504553T>C | CA512687201 | COL18A1,SLC19A1 | c.3405T>C (p.Ile1135=) c.2865T>C (p.Ile955=) c.906T>C (p.Ile302=) c.4110T>C (p.Ile1370=) c.498-5941A>G c.1294-5941A>G (n.1294-5941A>G) c.3396T>C (p.Ile1132=) c.4101T>C (p.Ile1367=) c.2856T>C (p.Ile952=) c.1585-1584A>G (n.1585-1584A>G) | |
21 | g.45504553T>G | CA410499353 | COL18A1,SLC19A1 | c.3405T>G (p.Ile1135Met) c.2865T>G (p.Ile955Met) c.906T>G (p.Ile302Met) c.4110T>G (p.Ile1370Met) c.498-5941A>C c.1294-5941A>C (n.1294-5941A>C) c.3396T>G (p.Ile1132Met) c.4101T>G (p.Ile1367Met) c.2856T>G (p.Ile952Met) c.1585-1584A>C (n.1585-1584A>C) | |
21 | g.45504553_45504554del | CA2654918509 | COL18A1,SLC19A1 | c.3405_3406del (p.Pro1136ArgfsTer?) c.2865_2866del (p.Pro956ArgfsTer?) c.906_907del (p.Pro303ArgfsTer?) c.4110_4111del (p.Pro1371ArgfsTer?) c.498-5942_498-5941del c.1294-5942_1294-5941del (n.1294-5942_1294-5941del) c.3396_3397del (p.Pro1133ArgfsTer?) c.4101_4102del (p.Pro1368ArgfsTer?) c.2856_2857del (p.Pro953ArgfsTer?) c.1585-1585_1585-1584del (n.1585-1585_1585-1584del) | gnomAD v4 |
21 | g.45504554C>A | CA410499354 | COL18A1,SLC19A1 | c.3406C>A (p.Pro1136Thr) c.2866C>A (p.Pro956Thr) c.907C>A (p.Pro303Thr) c.4111C>A (p.Pro1371Thr) c.498-5942G>T c.1294-5942G>T (n.1294-5942G>T) c.3397C>A (p.Pro1133Thr) c.4102C>A (p.Pro1368Thr) c.2857C>A (p.Pro953Thr) c.1585-1585G>T (n.1585-1585G>T) | |
21 | g.45504554C>G | CA410499356 | COL18A1,SLC19A1 | c.3406C>G (p.Pro1136Ala) c.2866C>G (p.Pro956Ala) c.907C>G (p.Pro303Ala) c.4111C>G (p.Pro1371Ala) c.498-5942G>C c.1294-5942G>C (n.1294-5942G>C) c.3397C>G (p.Pro1133Ala) c.4102C>G (p.Pro1368Ala) c.2857C>G (p.Pro953Ala) c.1585-1585G>C (n.1585-1585G>C) | |
21 | g.45504554C>T | CA410499355 | COL18A1,SLC19A1 | c.3406C>T (p.Pro1136Ser) c.2866C>T (p.Pro956Ser) c.907C>T (p.Pro303Ser) c.4111C>T (p.Pro1371Ser) c.498-5942G>A c.1294-5942G>A (n.1294-5942G>A) c.3397C>T (p.Pro1133Ser) c.4102C>T (p.Pro1368Ser) c.2857C>T (p.Pro953Ser) c.1585-1585G>A (n.1585-1585G>A) | ClinVar dbSNP gnomAD v4 |
21 | g.45504555C>A | CA410499357 | COL18A1,SLC19A1 | c.3407C>A (p.Pro1136Gln) c.2867C>A (p.Pro956Gln) c.908C>A (p.Pro303Gln) c.4112C>A (p.Pro1371Gln) c.498-5943G>T c.1294-5943G>T (n.1294-5943G>T) c.3398C>A (p.Pro1133Gln) c.4103C>A (p.Pro1368Gln) c.2858C>A (p.Pro953Gln) c.1585-1586G>T (n.1585-1586G>T) | gnomAD v4 |
21 | g.45504555C= | CA2392190785 | COL18A1,SLC19A1 | c.3407C= (p.Pro1136=) c.2867C= (p.Pro956=) c.908C= (p.Pro303=) c.4112C= (p.Pro1371=) c.498-5943G= c.1294-5943G= (n.1294-5943G=) c.3398C= (p.Pro1133=) c.4103C= (p.Pro1368=) c.2858C= (p.Pro953=) c.1585-1586G= (n.1585-1586G=) | |
21 | g.45504555C>G | CA410499358 | COL18A1,SLC19A1 | c.3407C>G (p.Pro1136Arg) c.2867C>G (p.Pro956Arg) c.908C>G (p.Pro303Arg) c.4112C>G (p.Pro1371Arg) c.498-5943G>C c.1294-5943G>C (n.1294-5943G>C) c.3398C>G (p.Pro1133Arg) c.4103C>G (p.Pro1368Arg) c.2858C>G (p.Pro953Arg) c.1585-1586G>C (n.1585-1586G>C) | |
21 | g.45504555C>T | CA10067512 | COL18A1,SLC19A1 | c.3407C>T (p.Pro1136Leu) c.2867C>T (p.Pro956Leu) c.908C>T (p.Pro303Leu) c.4112C>T (p.Pro1371Leu) c.498-5943G>A c.1294-5943G>A (n.1294-5943G>A) c.3398C>T (p.Pro1133Leu) c.4103C>T (p.Pro1368Leu) c.2858C>T (p.Pro953Leu) c.1585-1586G>A (n.1585-1586G>A) | dbSNP ExAC gnomAD v2 |
21 | g.45504556A>C | CA512687204 | COL18A1,SLC19A1 | c.3408A>C (p.Pro1136=) c.2868A>C (p.Pro956=) c.909A>C (p.Pro303=) c.4113A>C (p.Pro1371=) c.498-5944T>G c.1294-5944T>G (n.1294-5944T>G) c.3399A>C (p.Pro1133=) c.4104A>C (p.Pro1368=) c.2859A>C (p.Pro953=) c.1585-1587T>G (n.1585-1587T>G) | gnomAD v4 |
21 | g.45504556A>G | CA512687202 | COL18A1,SLC19A1 | c.3408A>G (p.Pro1136=) c.2868A>G (p.Pro956=) c.909A>G (p.Pro303=) c.4113A>G (p.Pro1371=) c.498-5944T>C c.1294-5944T>C (n.1294-5944T>C) c.3399A>G (p.Pro1133=) c.4104A>G (p.Pro1368=) c.2859A>G (p.Pro953=) c.1585-1587T>C (n.1585-1587T>C) | |
21 | g.45504556A>T | CA512687203 | COL18A1,SLC19A1 | c.3408A>T (p.Pro1136=) c.2868A>T (p.Pro956=) c.909A>T (p.Pro303=) c.4113A>T (p.Pro1371=) c.498-5944T>A c.1294-5944T>A (n.1294-5944T>A) c.3399A>T (p.Pro1133=) c.4104A>T (p.Pro1368=) c.2859A>T (p.Pro953=) c.1585-1587T>A (n.1585-1587T>A) | gnomAD v4 |
21 | g.45504557G>A | CA410499359 | COL18A1,SLC19A1 | c.3408+1G>A (n.3408+1G>A) c.2868+1G>A (n.2868+1G>A) c.909+1G>A (n.909+1G>A) c.4113+1G>A (n.4113+1G>A) c.498-5945C>T c.1294-5945C>T (n.1294-5945C>T) c.3399+1G>A (n.3399+1G>A) c.4104+1G>A (n.4104+1G>A) c.2859+1G>A (n.2859+1G>A) c.1585-1588C>T (n.1585-1588C>T) | gnomAD v4 |
21 | g.45504557G>C | CA410499361 | COL18A1,SLC19A1 | c.3408+1G>C (n.3408+1G>C) c.2868+1G>C (n.2868+1G>C) c.909+1G>C (n.909+1G>C) c.4113+1G>C (n.4113+1G>C) c.498-5945C>G c.1294-5945C>G (n.1294-5945C>G) c.3399+1G>C (n.3399+1G>C) c.4104+1G>C (n.4104+1G>C) c.2859+1G>C (n.2859+1G>C) c.1585-1588C>G (n.1585-1588C>G) | dbSNP |
21 | g.45504557G= | CA2392190786 | COL18A1,SLC19A1 | c.3408+1G= (n.3408+1G=) c.2868+1G= (n.2868+1G=) c.909+1G= (n.909+1G=) c.4113+1G= (n.4113+1G=) c.498-5945C= c.1294-5945C= (n.1294-5945C=) c.3399+1G= (n.3399+1G=) c.4104+1G= (n.4104+1G=) c.2859+1G= (n.2859+1G=) c.1585-1588C= (n.1585-1588C=) | |
21 | g.45504557G>T | CA410499360 | COL18A1,SLC19A1 | c.3408+1G>T (n.3408+1G>T) c.2868+1G>T (n.2868+1G>T) c.909+1G>T (n.909+1G>T) c.4113+1G>T (n.4113+1G>T) c.498-5945C>A c.1294-5945C>A (n.1294-5945C>A) c.3399+1G>T (n.3399+1G>T) c.4104+1G>T (n.4104+1G>T) c.2859+1G>T (n.2859+1G>T) c.1585-1588C>A (n.1585-1588C>A) | |
21 | g.45504558T>A | CA410499362 | COL18A1,SLC19A1 | c.3408+2T>A (n.3408+2T>A) c.2868+2T>A (n.2868+2T>A) c.909+2T>A (n.909+2T>A) c.4113+2T>A (n.4113+2T>A) c.498-5946A>T c.1294-5946A>T (n.1294-5946A>T) c.3399+2T>A (n.3399+2T>A) c.4104+2T>A (n.4104+2T>A) c.2859+2T>A (n.2859+2T>A) c.1585-1589A>T (n.1585-1589A>T) | |
21 | g.45504558T>C | CA410499363 | COL18A1,SLC19A1 | c.3408+2T>C (n.3408+2T>C) c.2868+2T>C (n.2868+2T>C) c.909+2T>C (n.909+2T>C) c.4113+2T>C (n.4113+2T>C) c.498-5946A>G c.1294-5946A>G (n.1294-5946A>G) c.3399+2T>C (n.3399+2T>C) c.4104+2T>C (n.4104+2T>C) c.2859+2T>C (n.2859+2T>C) c.1585-1589A>G (n.1585-1589A>G) | |
21 | g.45504558T>G | CA410499364 | COL18A1,SLC19A1 | c.3408+2T>G (n.3408+2T>G) c.2868+2T>G (n.2868+2T>G) c.909+2T>G (n.909+2T>G) c.4113+2T>G (n.4113+2T>G) c.498-5946A>C c.1294-5946A>C (n.1294-5946A>C) c.3399+2T>G (n.3399+2T>G) c.4104+2T>G (n.4104+2T>G) c.2859+2T>G (n.2859+2T>G) c.1585-1589A>C (n.1585-1589A>C) | |
21 | g.45504558dup | CA2392190787 | COL18A1,SLC19A1 | c.3408+2dup (n.3408+2dup) c.2868+2dup (n.2868+2dup) c.909+2dup (n.909+2dup) c.4113+2dup (n.4113+2dup) c.498-5946dup c.1294-5946dup (n.1294-5946dup) c.3399+2dup (n.3399+2dup) c.4104+2dup (n.4104+2dup) c.2859+2dup (n.2859+2dup) c.1585-1589dup (n.1585-1589dup) | dbSNP |
21 | g.45504559A>C | CA2577627034 | COL18A1,SLC19A1 | c.3408+3A>C (n.3408+3A>C) c.2868+3A>C (n.2868+3A>C) c.909+3A>C (n.909+3A>C) c.4113+3A>C (n.4113+3A>C) c.498-5947T>G c.1294-5947T>G (n.1294-5947T>G) c.3399+3A>C (n.3399+3A>C) c.4104+3A>C (n.4104+3A>C) c.2859+3A>C (n.2859+3A>C) c.1585-1590T>G (n.1585-1590T>G) | |
21 | g.45504560A>C | CA2818084012 | COL18A1,SLC19A1 | c.3408+4A>C (n.3408+4A>C) c.2868+4A>C (n.2868+4A>C) c.909+4A>C (n.909+4A>C) c.4113+4A>C (n.4113+4A>C) c.498-5948T>G c.1294-5948T>G (n.1294-5948T>G) c.3399+4A>C (n.3399+4A>C) c.4104+4A>C (n.4104+4A>C) c.2859+4A>C (n.2859+4A>C) c.1585-1591T>G (n.1585-1591T>G) | |
21 | g.45504561G>A | CA2654918517 | COL18A1,SLC19A1 | c.3408+5G>A (n.3408+5G>A) c.2868+5G>A (n.2868+5G>A) c.909+5G>A (n.909+5G>A) c.4113+5G>A (n.4113+5G>A) c.498-5949C>T c.1294-5949C>T (n.1294-5949C>T) c.3399+5G>A (n.3399+5G>A) c.4104+5G>A (n.4104+5G>A) c.2859+5G>A (n.2859+5G>A) c.1585-1592C>T (n.1585-1592C>T) | gnomAD v4 |
21 | g.45504561G= | CA2392190788 | COL18A1,SLC19A1 | c.3408+5G= (n.3408+5G=) c.2868+5G= (n.2868+5G=) c.909+5G= (n.909+5G=) c.4113+5G= (n.4113+5G=) c.498-5949C= c.1294-5949C= (n.1294-5949C=) c.3399+5G= (n.3399+5G=) c.4104+5G= (n.4104+5G=) c.2859+5G= (n.2859+5G=) c.1585-1592C= (n.1585-1592C=) | |
21 | g.45504561G>T | CA638497222 | COL18A1,SLC19A1 | c.3408+5G>T (n.3408+5G>T) c.2868+5G>T (n.2868+5G>T) c.909+5G>T (n.909+5G>T) c.4113+5G>T (n.4113+5G>T) c.498-5949C>A c.1294-5949C>A (n.1294-5949C>A) c.3399+5G>T (n.3399+5G>T) c.4104+5G>T (n.4104+5G>T) c.2859+5G>T (n.2859+5G>T) c.1585-1592C>A (n.1585-1592C>A) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.45504562T>A | CA749787766 | COL18A1,SLC19A1 | c.3408+6T>A (n.3408+6T>A) c.2868+6T>A (n.2868+6T>A) c.909+6T>A (n.909+6T>A) c.4113+6T>A (n.4113+6T>A) c.498-5950A>T c.1294-5950A>T (n.1294-5950A>T) c.3399+6T>A (n.3399+6T>A) c.4104+6T>A (n.4104+6T>A) c.2859+6T>A (n.2859+6T>A) c.1585-1593A>T (n.1585-1593A>T) | dbSNP gnomAD v4 |
21 | g.45504562T= | CA2392190789 | COL18A1,SLC19A1 | c.3408+6T= (n.3408+6T=) c.2868+6T= (n.2868+6T=) c.909+6T= (n.909+6T=) c.4113+6T= (n.4113+6T=) c.498-5950A= c.1294-5950A= (n.1294-5950A=) c.3399+6T= (n.3399+6T=) c.4104+6T= (n.4104+6T=) c.2859+6T= (n.2859+6T=) c.1585-1593A= (n.1585-1593A=) |