Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108575927_108575961del | CA2580100156 | COL4A5 | c.564_598del (p.Gly189ArgfsTer15) c.240_274del (p.Gly81ArgfsTer15) c.579_613del (p.Gly194ArgfsTer15) | ClinVar |
X | g.108575934_108575946delinsCCAGGGCCAATTG | CA2450681485 | COL4A5 | c.571_583delinsCCAGGGCCAATTG (p.Pro191=) c.247_259delinsCCAGGGCCAATTG (p.Pro83=) c.586_598delinsCCAGGGCCAATTG (p.Pro196=) | |
X | g.108575935_108575946del | CA891863003 | COL4A5 | c.572_583del (p.Pro191_Gly195delinsArg) c.248_259del (p.Pro83_Gly87delinsArg) c.587_598del (p.Pro196_Gly200delinsArg) | ClinVar dbSNP |
X | g.108575936_108575937dup | CA261043 | COL4A5 | c.573_574dup (p.Gly192GlufsTer12) c.249_250dup (p.Gly84GlufsTer12) c.588_589dup (p.Gly197GlufsTer12) | dbSNP |
X | g.108575937G>A | CA258274 | COL4A5 | c.574G>A (p.Gly192Arg) c.250G>A (p.Gly84Arg) c.589G>A (p.Gly197Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108575937G>C | CA413922168 | COL4A5 | c.574G>C (p.Gly192Arg) c.250G>C (p.Gly84Arg) c.589G>C (p.Gly197Arg) | |
X | g.108575937G= | CA2450681487 | COL4A5 | c.574G= (p.Gly192=) c.250G= (p.Gly84=) c.589G= (p.Gly197=) | |
X | g.108575937G>T | CA413922187 | COL4A5 | c.574G>T (p.Gly192Trp) c.250G>T (p.Gly84Trp) c.589G>T (p.Gly197Trp) | ClinVar dbSNP gnomAD v4 |
X | g.108575939dup | CA2695235183 | COL4A5 | c.576dup (p.Pro193AlafsTer23) c.252dup (p.Pro85AlafsTer23) c.591dup (p.Pro198AlafsTer23) | |
X | g.108575938G>A | CA413922225 | COL4A5 | c.575G>A (p.Gly192Glu) c.251G>A (p.Gly84Glu) c.590G>A (p.Gly197Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108575938G>C | CA413922195 | COL4A5 | c.575G>C (p.Gly192Ala) c.251G>C (p.Gly84Ala) c.590G>C (p.Gly197Ala) | |
X | g.108575938G>T | CA413922192 | COL4A5 | c.575G>T (p.Gly192Val) c.251G>T (p.Gly84Val) c.590G>T (p.Gly197Val) | gnomAD v4 |
X | g.108575939G>A | CA517991682 | COL4A5 | c.576G>A (p.Gly192=) c.252G>A (p.Gly84=) c.591G>A (p.Gly197=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575939G>C | CA517991683 | COL4A5 | c.576G>C (p.Gly192=) c.252G>C (p.Gly84=) c.591G>C (p.Gly197=) | |
X | g.108575939G= | CA2450681488 | COL4A5 | c.576G= (p.Gly192=) c.252G= (p.Gly84=) c.591G= (p.Gly197=) | |
X | g.108575939G>T | CA517991684 | COL4A5 | c.576G>T (p.Gly192=) c.252G>T (p.Gly84=) c.591G>T (p.Gly197=) | |
X | g.108575940C>A | CA413922230 | COL4A5 | c.577C>A (p.Pro193Thr) c.253C>A (p.Pro85Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
X | g.108575940C>G | CA413922235 | COL4A5 | c.577C>G (p.Pro193Ala) c.253C>G (p.Pro85Ala) c.592C>G (p.Pro198Ala) | |
X | g.108575940C>T | CA413922238 | COL4A5 | c.577C>T (p.Pro193Ser) c.253C>T (p.Pro85Ser) c.592C>T (p.Pro198Ser) | gnomAD v4 |
X | g.108575941del | CA2694411575 | COL4A5 | c.578del (p.Pro193GlnfsTer10) c.254del (p.Pro85GlnfsTer10) c.593del (p.Pro198GlnfsTer10) | gnomAD v4 |
X | g.108575941C>A | CA413922249 | COL4A5 | c.578C>A (p.Pro193Gln) c.254C>A (p.Pro85Gln) c.593C>A (p.Pro198Gln) | gnomAD v4 |
X | g.108575941C= | CA2450681489 | COL4A5 | c.578C= (p.Pro193=) c.254C= (p.Pro85=) c.593C= (p.Pro198=) | |
X | g.108575941C>G | CA413922250 | COL4A5 | c.578C>G (p.Pro193Arg) c.254C>G (p.Pro85Arg) c.593C>G (p.Pro198Arg) | |
X | g.108575941C>T | CA334179907 | COL4A5 | c.578C>T (p.Pro193Leu) c.254C>T (p.Pro85Leu) c.593C>T (p.Pro198Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575942A= | CA2450681490 | COL4A5 | c.579A= (p.Pro193=) c.255A= (p.Pro85=) c.594A= (p.Pro198=) | |
X | g.108575942A>C | CA517991685 | COL4A5 | c.579A>C (p.Pro193=) c.255A>C (p.Pro85=) c.594A>C (p.Pro198=) | gnomAD v4 |
X | g.108575942A>G | CA517991686 | COL4A5 | c.579A>G (p.Pro193=) c.255A>G (p.Pro85=) c.594A>G (p.Pro198=) | dbSNP |
X | g.108575942A>T | CA517991687 | COL4A5 | c.579A>T (p.Pro193=) c.255A>T (p.Pro85=) c.594A>T (p.Pro198=) | |
X | g.108575943A= | CA2450681491 | COL4A5 | c.580A= (p.Ile194=) c.256A= (p.Ile86=) c.595A= (p.Ile199=) | |
X | g.108575943A>C | CA413922256 | COL4A5 | c.580A>C (p.Ile194Leu) c.256A>C (p.Ile86Leu) c.595A>C (p.Ile199Leu) | |
X | g.108575943A>G | CA10488511 | COL4A5 | c.580A>G (p.Ile194Val) c.256A>G (p.Ile86Val) c.595A>G (p.Ile199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575943A>T | CA413922265 | COL4A5 | c.580A>T (p.Ile194Phe) c.256A>T (p.Ile86Phe) c.595A>T (p.Ile199Phe) | |
X | g.108575944T>A | CA413922270 | COL4A5 | c.581T>A (p.Ile194Asn) c.257T>A (p.Ile86Asn) c.596T>A (p.Ile199Asn) | gnomAD v4 |
X | g.108575944T>C | CA334179910 | COL4A5 | c.581T>C (p.Ile194Thr) c.257T>C (p.Ile86Thr) c.596T>C (p.Ile199Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575944T>G | CA413922279 | COL4A5 | c.581T>G (p.Ile194Ser) c.257T>G (p.Ile86Ser) c.596T>G (p.Ile199Ser) | |
X | g.108575944T= | CA2450681492 | COL4A5 | c.581T= (p.Ile194=) c.257T= (p.Ile86=) c.596T= (p.Ile199=) | |
X | g.108575945T>A | CA517991689 | COL4A5 | c.582T>A (p.Ile194=) c.258T>A (p.Ile86=) c.597T>A (p.Ile199=) | |
X | g.108575945T>C | CA517991688 | COL4A5 | c.582T>C (p.Ile194=) c.258T>C (p.Ile86=) c.597T>C (p.Ile199=) | gnomAD v4 |
X | g.108575945T>G | CA413922281 | COL4A5 | c.582T>G (p.Ile194Met) c.258T>G (p.Ile86Met) c.597T>G (p.Ile199Met) | |
X | g.108575946G>A | CA413922284 | COL4A5 | c.583G>A (p.Gly195Ser) c.259G>A (p.Gly87Ser) c.598G>A (p.Gly200Ser) | gnomAD v4 |
X | g.108575946G>C | CA413922282 | COL4A5 | c.583G>C (p.Gly195Arg) c.259G>C (p.Gly87Arg) c.598G>C (p.Gly200Arg) | |
X | g.108575946G>T | CA413922283 | COL4A5 | c.583G>T (p.Gly195Cys) c.259G>T (p.Gly87Cys) c.598G>T (p.Gly200Cys) | gnomAD v4 COSMIC COSMIC |
X | g.108575947G>A | CA258276 | COL4A5 | c.584G>A (p.Gly195Asp) c.260G>A (p.Gly87Asp) c.599G>A (p.Gly200Asp) | ClinVar dbSNP |
X | g.108575947G>C | CA413922298 | COL4A5 | c.584G>C (p.Gly195Ala) c.260G>C (p.Gly87Ala) c.599G>C (p.Gly200Ala) | gnomAD v4 |
X | g.108575947G= | CA2450681493 | COL4A5 | c.584G= (p.Gly195=) c.260G= (p.Gly87=) c.599G= (p.Gly200=) | |
X | g.108575947G>T | CA413922299 | COL4A5 | c.584G>T (p.Gly195Val) c.260G>T (p.Gly87Val) c.599G>T (p.Gly200Val) | ClinVar dbSNP COSMIC COSMIC |
X | g.108575948del | CA2694411592 | COL4A5 | c.585del (p.Pro197GlnfsTer6) c.261del (p.Pro89GlnfsTer6) c.600del (p.Pro202GlnfsTer6) | gnomAD v4 |
X | g.108575948T>A | CA517991690 | COL4A5 | c.585T>A (p.Gly195=) c.261T>A (p.Gly87=) c.600T>A (p.Gly200=) | |
X | g.108575948T>C | CA517991691 | COL4A5 | c.585T>C (p.Gly195=) c.261T>C (p.Gly87=) c.600T>C (p.Gly200=) | gnomAD v4 |
X | g.108575948T>G | CA517991692 | COL4A5 | c.585T>G (p.Gly195=) c.261T>G (p.Gly87=) c.600T>G (p.Gly200=) |