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.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) | ClinVar 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=) | |
X | g.108575948_108575949delinsTC | CA2450681494 | COL4A5 | c.585_586delinsTC (p.Gly195=) c.261_262delinsTC (p.Gly87=) c.600_601delinsTC (p.Gly200=) | |
X | g.108575949C>A | CA413922301 | COL4A5 | c.586C>A (p.Pro196Thr) c.262C>A (p.Pro88Thr) c.601C>A (p.Pro201Thr) | gnomAD v4 |
X | g.108575949C>G | CA413922304 | COL4A5 | c.586C>G (p.Pro196Ala) c.262C>G (p.Pro88Ala) c.601C>G (p.Pro201Ala) | |
X | g.108575949C>T | CA413922311 | COL4A5 | c.586C>T (p.Pro196Ser) c.262C>T (p.Pro88Ser) c.601C>T (p.Pro201Ser) | gnomAD v4 |
X | g.108575953del | CA891843911 | COL4A5 | c.590del (p.Pro197GlnfsTer6) c.266del (p.Pro89GlnfsTer6) c.605del (p.Pro202GlnfsTer6) | gnomAD v4 |
X | g.108575950C>A | CA413922314 | COL4A5 | c.587C>A (p.Pro196His) c.263C>A (p.Pro88His) c.602C>A (p.Pro201His) | gnomAD v4 |
X | g.108575950C= | CA2450681495 | COL4A5 | c.587C= (p.Pro196=) c.263C= (p.Pro88=) c.602C= (p.Pro201=) | |
X | g.108575950C>G | CA413922326 | COL4A5 | c.587C>G (p.Pro196Arg) c.263C>G (p.Pro88Arg) c.602C>G (p.Pro201Arg) | |
X | g.108575950C>T | CA413922332 | COL4A5 | c.587C>T (p.Pro196Leu) c.263C>T (p.Pro88Leu) c.602C>T (p.Pro201Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575951C>A | CA517991693 | COL4A5 | c.588C>A (p.Pro196=) c.264C>A (p.Pro88=) c.603C>A (p.Pro201=) | gnomAD v4 |
X | g.108575951C>G | CA517991694 | COL4A5 | c.588C>G (p.Pro196=) c.264C>G (p.Pro88=) c.603C>G (p.Pro201=) | gnomAD v4 |
X | g.108575951C>T | CA517991695 | COL4A5 | c.588C>T (p.Pro196=) c.264C>T (p.Pro88=) c.603C>T (p.Pro201=) | gnomAD v4 |
X | g.108575951_108575954del | CA2694411599 | COL4A5 | c.588_591del (p.Pro197AspfsTer5) c.264_267del (p.Pro89AspfsTer5) c.603_606del (p.Pro202AspfsTer5) | gnomAD v4 |
X | g.108575952C>A | CA413922342 | COL4A5 | c.589C>A (p.Pro197Thr) c.265C>A (p.Pro89Thr) c.604C>A (p.Pro202Thr) | gnomAD v4 |
X | g.108575952C= | CA2450681496 | COL4A5 | c.589C= (p.Pro197=) c.265C= (p.Pro89=) c.604C= (p.Pro202=) | |
X | g.108575952C>G | CA413922343 | COL4A5 | c.589C>G (p.Pro197Ala) c.265C>G (p.Pro89Ala) c.604C>G (p.Pro202Ala) | |
X | g.108575952C>T | CA10488512 | COL4A5 | c.589C>T (p.Pro197Ser) c.265C>T (p.Pro89Ser) c.604C>T (p.Pro202Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575953C>A | CA413922351 | COL4A5 | c.590C>A (p.Pro197Gln) c.266C>A (p.Pro89Gln) c.605C>A (p.Pro202Gln) | gnomAD v4 |
X | g.108575953C>G | CA413922348 | COL4A5 | c.590C>G (p.Pro197Arg) c.266C>G (p.Pro89Arg) c.605C>G (p.Pro202Arg) | |
X | g.108575953C>T | CA413922345 | COL4A5 | c.590C>T (p.Pro197Leu) c.266C>T (p.Pro89Leu) c.605C>T (p.Pro202Leu) | gnomAD v4 |
X | g.108575954A= | CA2450681497 | COL4A5 | c.591A= (p.Pro197=) c.267A= (p.Pro89=) c.606A= (p.Pro202=) | |
X | g.108575954A>C | CA517991696 | COL4A5 | c.591A>C (p.Pro197=) c.267A>C (p.Pro89=) c.606A>C (p.Pro202=) | |
X | g.108575954A>G | CA517991697 | COL4A5 | c.591A>G (p.Pro197=) c.267A>G (p.Pro89=) c.606A>G (p.Pro202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108575954A>T | CA517991698 | COL4A5 | c.591A>T (p.Pro197=) c.267A>T (p.Pro89=) c.606A>T (p.Pro202=) | gnomAD v4 |
X | g.108575955G>A | CA413922363 | COL4A5 | c.592G>A (p.Gly198Arg) c.268G>A (p.Gly90Arg) c.607G>A (p.Gly203Arg) | gnomAD v4 |
X | g.108575955G>C | CA413922359 | COL4A5 | c.592G>C (p.Gly198Arg) c.268G>C (p.Gly90Arg) c.607G>C (p.Gly203Arg) | |
X | g.108575955G>T | CA413922372 | COL4A5 | c.592G>T (p.Gly198Ter) c.268G>T (p.Gly90Ter) c.607G>T (p.Gly203Ter) | |
X | g.108575956G>A | CA258279 | COL4A5 | c.593G>A (p.Gly198Glu) c.269G>A (p.Gly90Glu) c.608G>A (p.Gly203Glu) | dbSNP gnomAD v4 |
X | g.108575956G>C | CA413922399 | COL4A5 | c.593G>C (p.Gly198Ala) c.269G>C (p.Gly90Ala) c.608G>C (p.Gly203Ala) | |
X | g.108575956G= | CA2450681498 | COL4A5 | c.593G= (p.Gly198=) c.269G= (p.Gly90=) c.608G= (p.Gly203=) | |
X | g.108575956G>T | CA413922386 | COL4A5 | c.593G>T (p.Gly198Val) c.269G>T (p.Gly90Val) c.608G>T (p.Gly203Val) | gnomAD v4 |
X | g.108575957A>C | CA517991699 | COL4A5 | c.594A>C (p.Gly198=) c.270A>C (p.Gly90=) c.609A>C (p.Gly203=) | |
X | g.108575957A>G | CA517991700 | COL4A5 | c.594A>G (p.Gly198=) c.270A>G (p.Gly90=) c.609A>G (p.Gly203=) | |
X | g.108575957A>T | CA517991701 | COL4A5 | c.594A>T (p.Gly198=) c.270A>T (p.Gly90=) c.609A>T (p.Gly203=) | |
X | g.108575957dup | CA658823831 | COL4A5 | c.594dup (p.Pro199ThrfsTer17) c.270dup (p.Pro91ThrfsTer17) c.609dup (p.Pro204ThrfsTer17) | ClinVar dbSNP |
X | g.108575957_108575960dup | CA2695235184 | COL4A5 | c.594_597dup (p.Pro200ThrfsTer17) c.270_273dup (p.Pro92ThrfsTer17) c.609_612dup (p.Pro205ThrfsTer17) | |
X | g.108575958C>A | CA413922412 | COL4A5 | c.595C>A (p.Pro199Thr) c.271C>A (p.Pro91Thr) c.610C>A (p.Pro204Thr) | gnomAD v4 |
X | g.108575958C>G | CA413922420 | COL4A5 | c.595C>G (p.Pro199Ala) c.271C>G (p.Pro91Ala) c.610C>G (p.Pro204Ala) | |
X | g.108575958C>T | CA413922423 | COL4A5 | c.595C>T (p.Pro199Ser) c.271C>T (p.Pro91Ser) c.610C>T (p.Pro204Ser) | gnomAD v4 |
X | g.108575959del | CA2694411607 | COL4A5 | c.596del (p.Pro199HisfsTer4) c.272del (p.Pro91HisfsTer4) c.611del (p.Pro204HisfsTer4) | gnomAD v4 |
X | g.108575959C>A | CA10488513 | COL4A5 | c.596C>A (p.Pro199Gln) c.272C>A (p.Pro91Gln) c.611C>A (p.Pro204Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |