Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108578274T>C | CA658421370 | COL4A5 | c.688-17T>C (n.688-17T>C) c.364-17T>C (n.364-17T>C) c.703-17T>C (n.703-17T>C) | COSMIC |
X | g.108578277T>C | CA10488549 | COL4A5 | c.688-14T>C (n.688-14T>C) c.364-14T>C (n.364-14T>C) c.703-14T>C (n.703-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578277T= | CA2450682303 | COL4A5 | c.688-14T= (n.688-14T=) c.364-14T= (n.364-14T=) c.703-14T= (n.703-14T=) | |
X | g.108578278_108578281delinsATCT | CA2450682304 | COL4A5 | c.688-13_688-10delinsATCT (n.688-13_688-10delinsATCT) c.364-13_364-10delinsATCT (n.364-13_364-10delinsATCT) c.703-13_703-10delinsATCT (n.703-13_703-10delinsATCT) | |
X | g.108578279T>C | CA869820411 | COL4A5 | c.688-12T>C (n.688-12T>C) c.364-12T>C (n.364-12T>C) c.703-12T>C (n.703-12T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578279T= | CA2450682306 | COL4A5 | c.688-12T= (n.688-12T=) c.364-12T= (n.364-12T=) c.703-12T= (n.703-12T=) | |
X | g.108578280_108578282del | CA2450682305 | COL4A5 | c.688-11_688-9del (n.688-11_688-9del) c.364-11_364-9del (n.364-11_364-9del) c.703-11_703-9del (n.703-11_703-9del) | dbSNP |
X | g.108578280C>A | CA2694412237 | COL4A5 | c.688-11C>A (n.688-11C>A) c.364-11C>A (n.364-11C>A) c.703-11C>A (n.703-11C>A) | gnomAD v4 |
X | g.108578280C= | CA2450682307 | COL4A5 | c.688-11C= (n.688-11C=) c.364-11C= (n.364-11C=) c.703-11C= (n.703-11C=) | |
X | g.108578280C>T | CA10488550 | COL4A5 | c.688-11C>T (n.688-11C>T) c.364-11C>T (n.364-11C>T) c.703-11C>T (n.703-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578283G>A | CA1136179069 | COL4A5 | c.688-8G>A (n.688-8G>A) c.364-8G>A (n.364-8G>A) c.703-8G>A (n.703-8G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108578283G= | CA2450682308 | COL4A5 | c.688-8G= (n.688-8G=) c.364-8G= (n.364-8G=) c.703-8G= (n.703-8G=) | |
X | g.108578284C>A | CA2694412239 | COL4A5 | c.688-7C>A (n.688-7C>A) c.364-7C>A (n.364-7C>A) c.703-7C>A (n.703-7C>A) | gnomAD v4 |
X | g.108578284C= | CA2450682309 | COL4A5 | c.688-7C= (n.688-7C=) c.364-7C= (n.364-7C=) c.703-7C= (n.703-7C=) | |
X | g.108578284C>G | CA2450682310 | COL4A5 | c.688-7C>G (n.688-7C>G) c.364-7C>G (n.364-7C>G) c.703-7C>G (n.703-7C>G) | ClinVar dbSNP gnomAD v4 |
X | g.108578286A>C | CA2694412240 | COL4A5 | c.688-5A>C (n.688-5A>C) c.364-5A>C (n.364-5A>C) c.703-5A>C (n.703-5A>C) | gnomAD v4 |
X | g.108578288C= | CA2450682311 | COL4A5 | c.688-3C= (n.688-3C=) c.364-3C= (n.364-3C=) c.703-3C= (n.703-3C=) | |
X | g.108578288C>G | CA258311 | COL4A5 | c.688-3C>G (n.688-3C>G) c.364-3C>G (n.364-3C>G) c.703-3C>G (n.703-3C>G) | dbSNP |
X | g.108578289A>C | CA413923999 | COL4A5 | c.688-2A>C (n.688-2A>C) c.364-2A>C (n.364-2A>C) c.703-2A>C (n.703-2A>C) | |
X | g.108578289A>G | CA413924003 | COL4A5 | c.688-2A>G (n.688-2A>G) c.364-2A>G (n.364-2A>G) c.703-2A>G (n.703-2A>G) | |
X | g.108578289A>T | CA413924004 | COL4A5 | c.688-2A>T (n.688-2A>T) c.364-2A>T (n.364-2A>T) c.703-2A>T (n.703-2A>T) | |
X | g.108578289_108578290delinsAG | CA2450682312 | COL4A5 | c.688-2_688-1delinsAG (n.688-2_688-1delinsAG) c.364-2_364-1delinsAG (n.364-2_364-1delinsAG) c.703-2_703-1delinsAG (n.703-2_703-1delinsAG) | |
X | g.108578290G>A | CA413924005 | COL4A5 | c.688-1G>A (n.688-1G>A) c.364-1G>A (n.364-1G>A) c.703-1G>A (n.703-1G>A) | |
X | g.108578290G>C | CA413924006 | COL4A5 | c.688-1G>C (n.688-1G>C) c.364-1G>C (n.364-1G>C) c.703-1G>C (n.703-1G>C) | |
X | g.108578290G>T | CA413924007 | COL4A5 | c.688-1G>T (n.688-1G>T) c.364-1G>T (n.364-1G>T) c.703-1G>T (n.703-1G>T) | |
X | g.108578292del | CA258314 | COL4A5 | c.689del c.365del c.704del | dbSNP gnomAD v4 |
X | g.108578291G>A | CA413924010 | COL4A5 | c.688G>A (p.Gly230Ser) c.364G>A (p.Gly122Ser) c.703G>A (p.Gly235Ser) | |
X | g.108578291G>C | CA258312 | COL4A5 | c.688G>C (p.Gly230Arg) c.364G>C (p.Gly122Arg) c.703G>C (p.Gly235Arg) | dbSNP |
X | g.108578291G= | CA2450682313 | COL4A5 | c.688G= (p.Gly230=) c.364G= (p.Gly122=) c.703G= (p.Gly235=) | |
X | g.108578291G>T | CA413924013 | COL4A5 | c.688G>T (p.Gly230Cys) c.364G>T (p.Gly122Cys) c.703G>T (p.Gly235Cys) | gnomAD v4 |
X | g.108578292G>A | CA258315 | COL4A5 | c.689G>A (p.Gly230Asp) c.365G>A (p.Gly122Asp) c.704G>A (p.Gly235Asp) | ClinVar dbSNP |
X | g.108578292G>C | CA413924020 | COL4A5 | c.689G>C (p.Gly230Ala) c.365G>C (p.Gly122Ala) c.704G>C (p.Gly235Ala) | |
X | g.108578292G= | CA2450682314 | COL4A5 | c.689G= (p.Gly230=) c.365G= (p.Gly122=) c.704G= (p.Gly235=) | |
X | g.108578292G>T | CA413924015 | COL4A5 | c.689G>T (p.Gly230Val) c.365G>T (p.Gly122Val) c.704G>T (p.Gly235Val) | ClinVar dbSNP gnomAD v4 |
X | g.108578293T>A | CA517991769 | COL4A5 | c.690T>A (p.Gly230=) c.366T>A (p.Gly122=) c.705T>A (p.Gly235=) | |
X | g.108578293T>C | CA517991770 | COL4A5 | c.690T>C (p.Gly230=) c.366T>C (p.Gly122=) c.705T>C (p.Gly235=) | dbSNP gnomAD v4 |
X | g.108578293T>G | CA517991771 | COL4A5 | c.690T>G (p.Gly230=) c.366T>G (p.Gly122=) c.705T>G (p.Gly235=) | |
X | g.108578293T= | CA2450682315 | COL4A5 | c.690T= (p.Gly230=) c.366T= (p.Gly122=) c.705T= (p.Gly235=) | |
X | g.108578294G>A | CA334180265 | COL4A5 | c.691G>A (p.Glu231Lys) c.367G>A (p.Glu123Lys) c.706G>A (p.Glu236Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578294G>C | CA413924027 | COL4A5 | c.691G>C (p.Glu231Gln) c.367G>C (p.Glu123Gln) c.706G>C (p.Glu236Gln) | |
X | g.108578294G= | CA2450682316 | COL4A5 | c.691G= (p.Glu231=) c.367G= (p.Glu123=) c.706G= (p.Glu236=) | |
X | g.108578294G>T | CA413924030 | COL4A5 | c.691G>T (p.Glu231Ter) c.367G>T (p.Glu123Ter) c.706G>T (p.Glu236Ter) | |
X | g.108578295A>C | CA413924033 | COL4A5 | c.692A>C (p.Glu231Ala) c.368A>C (p.Glu123Ala) c.707A>C (p.Glu236Ala) | |
X | g.108578295A>G | CA413924034 | COL4A5 | c.692A>G (p.Glu231Gly) c.368A>G (p.Glu123Gly) c.707A>G (p.Glu236Gly) | |
X | g.108578295A>T | CA413924036 | COL4A5 | c.692A>T (p.Glu231Val) c.368A>T (p.Glu123Val) c.707A>T (p.Glu236Val) | |
X | g.108578296G>A | CA517991772 | COL4A5 | c.693G>A (p.Glu231=) c.369G>A (p.Glu123=) c.708G>A (p.Glu236=) | gnomAD v4 |
X | g.108578296G>C | CA413924039 | COL4A5 | c.693G>C (p.Glu231Asp) c.369G>C (p.Glu123Asp) c.708G>C (p.Glu236Asp) | |
X | g.108578296G>T | CA413924040 | COL4A5 | c.693G>T (p.Glu231Asp) c.369G>T (p.Glu123Asp) c.708G>T (p.Glu236Asp) | |
X | g.108578297C>A | CA413924044 | COL4A5 | c.694C>A (p.Gln232Lys) c.370C>A (p.Gln124Lys) c.709C>A (p.Gln237Lys) | gnomAD v4 |
X | g.108578297C>G | CA413924045 | COL4A5 | c.694C>G (p.Gln232Glu) c.370C>G (p.Gln124Glu) c.709C>G (p.Gln237Glu) | |
X | g.108578297C>T | CA413924048 | COL4A5 | c.694C>T (p.Gln232Ter) c.370C>T (p.Gln124Ter) c.709C>T (p.Gln237Ter) | ClinVar |
X | g.108578298A>C | CA413924053 | COL4A5 | c.695A>C (p.Gln232Pro) c.371A>C (p.Gln124Pro) c.710A>C (p.Gln237Pro) | |
X | g.108578298A>G | CA413924056 | COL4A5 | c.695A>G (p.Gln232Arg) c.371A>G (p.Gln124Arg) c.710A>G (p.Gln237Arg) | |
X | g.108578298A>T | CA413924051 | COL4A5 | c.695A>T (p.Gln232Leu) c.371A>T (p.Gln124Leu) c.710A>T (p.Gln237Leu) | |
X | g.108578299A>C | CA413924058 | COL4A5 | c.696A>C (p.Gln232His) c.372A>C (p.Gln124His) c.711A>C (p.Gln237His) | gnomAD v4 |
X | g.108578299A>G | CA517991773 | COL4A5 | c.696A>G (p.Gln232=) c.372A>G (p.Gln124=) c.711A>G (p.Gln237=) | |
X | g.108578299A>T | CA413924059 | COL4A5 | c.696A>T (p.Gln232His) c.372A>T (p.Gln124His) c.711A>T (p.Gln237His) | |
X | g.108578300G>A | CA413924061 | COL4A5 | c.697G>A (p.Gly233Ser) c.373G>A (p.Gly125Ser) c.712G>A (p.Gly238Ser) | |
X | g.108578300G>C | CA413924064 | COL4A5 | c.697G>C (p.Gly233Arg) c.373G>C (p.Gly125Arg) c.712G>C (p.Gly238Arg) | |
X | g.108578300G>T | CA413924068 | COL4A5 | c.697G>T (p.Gly233Cys) c.373G>T (p.Gly125Cys) c.712G>T (p.Gly238Cys) | |
X | g.108578301del | CA2695235189 | COL4A5 | c.698del (p.Gly233ValfsTer21) c.374del (p.Gly125ValfsTer21) c.713del (p.Gly238ValfsTer21) | |
X | g.108578301G>A | CA413924074 | COL4A5 | c.698G>A (p.Gly233Asp) c.374G>A (p.Gly125Asp) c.713G>A (p.Gly238Asp) | |
X | g.108578301G>C | CA413924069 | COL4A5 | c.698G>C (p.Gly233Ala) c.374G>C (p.Gly125Ala) c.713G>C (p.Gly238Ala) | ClinVar dbSNP gnomAD v4 |
X | g.108578301G= | CA2450682317 | COL4A5 | c.698G= (p.Gly233=) c.374G= (p.Gly125=) c.713G= (p.Gly238=) | |
X | g.108578301G>T | CA413924071 | COL4A5 | c.698G>T (p.Gly233Val) c.374G>T (p.Gly125Val) c.713G>T (p.Gly238Val) | ClinVar dbSNP |
X | g.108578302T>A | CA517991774 | COL4A5 | c.699T>A (p.Gly233=) c.375T>A (p.Gly125=) c.714T>A (p.Gly238=) | |
X | g.108578302T>C | CA517991775 | COL4A5 | c.699T>C (p.Gly233=) c.375T>C (p.Gly125=) c.714T>C (p.Gly238=) | |
X | g.108578302T>G | CA517991776 | COL4A5 | c.699T>G (p.Gly233=) c.375T>G (p.Gly125=) c.714T>G (p.Gly238=) | |
X | g.108578303C>A | CA413924077 | COL4A5 | c.700C>A (p.Leu234Ile) c.376C>A (p.Leu126Ile) c.715C>A (p.Leu239Ile) | |
X | g.108578303C= | CA2450682318 | COL4A5 | c.700C= (p.Leu234=) c.376C= (p.Leu126=) c.715C= (p.Leu239=) | |
X | g.108578303C>G | CA10488551 | COL4A5 | c.700C>G (p.Leu234Val) c.376C>G (p.Leu126Val) c.715C>G (p.Leu239Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578303C>T | CA413924081 | COL4A5 | c.700C>T (p.Leu234Phe) c.376C>T (p.Leu126Phe) c.715C>T (p.Leu239Phe) | |
X | g.108578304T>A | CA413924085 | COL4A5 | c.701T>A (p.Leu234His) c.377T>A (p.Leu126His) c.716T>A (p.Leu239His) | |
X | g.108578304T>C | CA413924088 | COL4A5 | c.701T>C (p.Leu234Pro) c.377T>C (p.Leu126Pro) c.716T>C (p.Leu239Pro) | |
X | g.108578304T>G | CA413924090 | COL4A5 | c.701T>G (p.Leu234Arg) c.377T>G (p.Leu126Arg) c.716T>G (p.Leu239Arg) | |
X | g.108578305T>A | CA517991777 | COL4A5 | c.702T>A (p.Leu234=) c.378T>A (p.Leu126=) c.717T>A (p.Leu239=) | |
X | g.108578305T>C | CA517991778 | COL4A5 | c.702T>C (p.Leu234=) c.378T>C (p.Leu126=) c.717T>C (p.Leu239=) | |
X | g.108578305T>G | CA517991779 | COL4A5 | c.702T>G (p.Leu234=) c.378T>G (p.Leu126=) c.717T>G (p.Leu239=) | |
X | g.108578306C>A | CA413924095 | COL4A5 | c.703C>A (p.Gln235Lys) c.379C>A (p.Gln127Lys) c.718C>A (p.Gln240Lys) | |
X | g.108578306C>G | CA413924098 | COL4A5 | c.703C>G (p.Gln235Glu) c.379C>G (p.Gln127Glu) c.718C>G (p.Gln240Glu) | |
X | g.108578306C>T | CA413924093 | COL4A5 | c.703C>T (p.Gln235Ter) c.379C>T (p.Gln127Ter) c.718C>T (p.Gln240Ter) | ClinVar |
X | g.108578307A>C | CA413924110 | COL4A5 | c.704A>C (p.Gln235Pro) c.380A>C (p.Gln127Pro) c.719A>C (p.Gln240Pro) | |
X | g.108578307A>G | CA413924103 | COL4A5 | c.704A>G (p.Gln235Arg) c.380A>G (p.Gln127Arg) c.719A>G (p.Gln240Arg) | gnomAD v4 |
X | g.108578307A>T | CA413924113 | COL4A5 | c.704A>T (p.Gln235Leu) c.380A>T (p.Gln127Leu) c.719A>T (p.Gln240Leu) | |
X | g.108578308G>A | CA517991780 | COL4A5 | c.705G>A (p.Gln235=) c.381G>A (p.Gln127=) c.720G>A (p.Gln240=) | gnomAD v4 |
X | g.108578308G>C | CA413924116 | COL4A5 | c.705G>C (p.Gln235His) c.381G>C (p.Gln127His) c.720G>C (p.Gln240His) | |
X | g.108578308G>T | CA413924118 | COL4A5 | c.705G>T (p.Gln235His) c.381G>T (p.Gln127His) c.720G>T (p.Gln240His) | |
X | g.108578309G>A | CA413924121 | COL4A5 | c.706G>A (p.Gly236Ser) c.382G>A (p.Gly128Ser) c.721G>A (p.Gly241Ser) | ClinVar |
X | g.108578309G>C | CA413924124 | COL4A5 | c.706G>C (p.Gly236Arg) c.382G>C (p.Gly128Arg) c.721G>C (p.Gly241Arg) | |
X | g.108578309G>T | CA413924125 | COL4A5 | c.706G>T (p.Gly236Cys) c.382G>T (p.Gly128Cys) c.721G>T (p.Gly241Cys) | |
X | g.108578310G>A | CA413924126 | COL4A5 | c.707G>A (p.Gly236Asp) c.383G>A (p.Gly128Asp) c.722G>A (p.Gly241Asp) | ClinVar dbSNP |
X | g.108578310G>C | CA413924129 | COL4A5 | c.707G>C (p.Gly236Ala) c.383G>C (p.Gly128Ala) c.722G>C (p.Gly241Ala) | |
X | g.108578310G= | CA2450682319 | COL4A5 | c.707G= (p.Gly236=) c.383G= (p.Gly128=) c.722G= (p.Gly241=) | |
X | g.108578310G>T | CA413924131 | COL4A5 | c.707G>T (p.Gly236Val) c.383G>T (p.Gly128Val) c.722G>T (p.Gly241Val) | |
X | g.108578311C>A | CA517991781 | COL4A5 | c.708C>A (p.Gly236=) c.384C>A (p.Gly128=) c.723C>A (p.Gly241=) | gnomAD v4 |
X | g.108578311C>G | CA517991782 | COL4A5 | c.708C>G (p.Gly236=) c.384C>G (p.Gly128=) c.723C>G (p.Gly241=) | |
X | g.108578311C>T | CA517991783 | COL4A5 | c.708C>T (p.Gly236=) c.384C>T (p.Gly128=) c.723C>T (p.Gly241=) | |
X | g.108578313del | CA2580100185 | COL4A5 | c.710del (p.Pro237HisfsTer17) c.386del (p.Pro129HisfsTer17) c.725del (p.Pro242HisfsTer17) | ClinVar |
X | g.108578312C>A | CA413924134 | COL4A5 | c.709C>A (p.Pro237Thr) c.385C>A (p.Pro129Thr) c.724C>A (p.Pro242Thr) | gnomAD v4 |
X | g.108578312C>G | CA413924136 | COL4A5 | c.709C>G (p.Pro237Ala) c.385C>G (p.Pro129Ala) c.724C>G (p.Pro242Ala) | |
X | g.108578312C>T | CA413924139 | COL4A5 | c.709C>T (p.Pro237Ser) c.385C>T (p.Pro129Ser) c.724C>T (p.Pro242Ser) | ClinVar dbSNP |
X | g.108578322_108578330dup | CA2694412261 | COL4A5 | c.719_727dup (p.Gly242_Gln243insProProGly) c.395_403dup (p.Gly134_Gln135insProProGly) c.734_742dup (p.Gly247_Gln248insProProGly) | gnomAD v4 |
X | g.108578322_108578330del | CA2694412263 | COL4A5 | c.719_727del (p.Pro240_Gly242del) c.395_403del (p.Pro132_Gly134del) c.734_742del (p.Pro245_Gly247del) | gnomAD v4 |
X | g.108578313C>A | CA413924142 | COL4A5 | c.710C>A (p.Pro237Gln) c.386C>A (p.Pro129Gln) c.725C>A (p.Pro242Gln) | |
X | g.108578313C>G | CA413924144 | COL4A5 | c.710C>G (p.Pro237Arg) c.386C>G (p.Pro129Arg) c.725C>G (p.Pro242Arg) | |
X | g.108578313C>T | CA413924146 | COL4A5 | c.710C>T (p.Pro237Leu) c.386C>T (p.Pro129Leu) c.725C>T (p.Pro242Leu) | gnomAD v4 |
X | g.108578314A= | CA2450682320 | COL4A5 | c.711A= (p.Pro237=) c.387A= (p.Pro129=) c.726A= (p.Pro242=) | |
X | g.108578314A>C | CA517991784 | COL4A5 | c.711A>C (p.Pro237=) c.387A>C (p.Pro129=) c.726A>C (p.Pro242=) | gnomAD v4 |
X | g.108578314A>G | CA517991785 | COL4A5 | c.711A>G (p.Pro237=) c.387A>G (p.Pro129=) c.726A>G (p.Pro242=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578314A>T | CA517991786 | COL4A5 | c.711A>T (p.Pro237=) c.387A>T (p.Pro129=) c.726A>T (p.Pro242=) | |
X | g.108578314_108578319del | CA2580100186 | COL4A5 | c.711_716del (p.Pro238_Gly239del) c.387_392del (p.Pro130_Gly131del) c.726_731del (p.Pro243_Gly244del) | ClinVar |
X | g.108578315C>A | CA413924154 | COL4A5 | c.712C>A (p.Pro238Thr) c.388C>A (p.Pro130Thr) c.727C>A (p.Pro243Thr) | |
X | g.108578315C>G | CA413924152 | COL4A5 | c.712C>G (p.Pro238Ala) c.388C>G (p.Pro130Ala) c.727C>G (p.Pro243Ala) | |
X | g.108578315C>T | CA413924149 | COL4A5 | c.712C>T (p.Pro238Ser) c.388C>T (p.Pro130Ser) c.727C>T (p.Pro243Ser) | |
X | g.108578316C>A | CA413924157 | COL4A5 | c.713C>A (p.Pro238His) c.389C>A (p.Pro130His) c.728C>A (p.Pro243His) | |
X | g.108578316C= | CA2450682321 | COL4A5 | c.713C= (p.Pro238=) c.389C= (p.Pro130=) c.728C= (p.Pro243=) | |
X | g.108578316C>G | CA413924165 | COL4A5 | c.713C>G (p.Pro238Arg) c.389C>G (p.Pro130Arg) c.728C>G (p.Pro243Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578316C>T | CA413924167 | COL4A5 | c.713C>T (p.Pro238Leu) c.389C>T (p.Pro130Leu) c.728C>T (p.Pro243Leu) | |
X | g.108578316_108578317del | CA2579675949 | COL4A5 | c.713_714del (p.Pro238ArgfsTer8) c.389_390del (p.Pro130ArgfsTer8) c.728_729del (p.Pro243ArgfsTer8) | |
X | g.108578317T>A | CA517991788 | COL4A5 | c.714T>A (p.Pro238=) c.390T>A (p.Pro130=) c.729T>A (p.Pro243=) | |
X | g.108578317T>C | CA517991789 | COL4A5 | c.714T>C (p.Pro238=) c.390T>C (p.Pro130=) c.729T>C (p.Pro243=) | |
X | g.108578317T>G | CA517991787 | COL4A5 | c.714T>G (p.Pro238=) c.390T>G (p.Pro130=) c.729T>G (p.Pro243=) | |
X | g.108578318G>A | CA413924172 | COL4A5 | c.715G>A (p.Gly239Arg) c.391G>A (p.Gly131Arg) c.730G>A (p.Gly244Arg) | |
X | g.108578318G>C | CA413924174 | COL4A5 | c.715G>C (p.Gly239Arg) c.391G>C (p.Gly131Arg) c.730G>C (p.Gly244Arg) | |
X | g.108578318G= | CA2450682322 | COL4A5 | c.715G= (p.Gly239=) c.391G= (p.Gly131=) c.730G= (p.Gly244=) | |
X | g.108578318G>T | CA413924175 | COL4A5 | c.715G>T (p.Gly239Trp) c.391G>T (p.Gly131Trp) c.730G>T (p.Gly244Trp) | |
X | g.108578319G>A | CA258318 | COL4A5 | c.716G>A (p.Gly239Glu) c.392G>A (p.Gly131Glu) c.731G>A (p.Gly244Glu) | ClinVar dbSNP |
X | g.108578319G>C | CA413924179 | COL4A5 | c.716G>C (p.Gly239Ala) c.392G>C (p.Gly131Ala) c.731G>C (p.Gly244Ala) | |
X | g.108578319G= | CA2450682323 | COL4A5 | c.716G= (p.Gly239=) c.392G= (p.Gly131=) c.731G= (p.Gly244=) | |
X | g.108578319G>T | CA413924181 | COL4A5 | c.716G>T (p.Gly239Val) c.392G>T (p.Gly131Val) c.731G>T (p.Gly244Val) | |
X | g.108578320G>A | CA517991792 | COL4A5 | c.717G>A (p.Gly239=) c.393G>A (p.Gly131=) c.732G>A (p.Gly244=) | gnomAD v4 |
X | g.108578320G>C | CA517991790 | COL4A5 | c.717G>C (p.Gly239=) c.393G>C (p.Gly131=) c.732G>C (p.Gly244=) | |
X | g.108578320G>T | CA517991791 | COL4A5 | c.717G>T (p.Gly239=) c.393G>T (p.Gly131=) c.732G>T (p.Gly244=) | |
X | g.108578321C>A | CA413924185 | COL4A5 | c.718C>A (p.Pro240Thr) c.394C>A (p.Pro132Thr) c.733C>A (p.Pro245Thr) | dbSNP |
X | g.108578321C= | CA2450682324 | COL4A5 | c.718C= (p.Pro240=) c.394C= (p.Pro132=) c.733C= (p.Pro245=) | |
X | g.108578321C>G | CA413924186 | COL4A5 | c.718C>G (p.Pro240Ala) c.394C>G (p.Pro132Ala) c.733C>G (p.Pro245Ala) | |
X | g.108578321C>T | CA413924189 | COL4A5 | c.718C>T (p.Pro240Ser) c.394C>T (p.Pro132Ser) c.733C>T (p.Pro245Ser) | ClinVar |
X | g.108578322C>A | CA413924193 | COL4A5 | c.719C>A (p.Pro240Gln) c.395C>A (p.Pro132Gln) c.734C>A (p.Pro245Gln) | |
X | g.108578322C>G | CA413924197 | COL4A5 | c.719C>G (p.Pro240Arg) c.395C>G (p.Pro132Arg) c.734C>G (p.Pro245Arg) | |
X | g.108578322C>T | CA413924199 | COL4A5 | c.719C>T (p.Pro240Leu) c.395C>T (p.Pro132Leu) c.734C>T (p.Pro245Leu) | |
X | g.108578323A>C | CA517991793 | COL4A5 | c.720A>C (p.Pro240=) c.396A>C (p.Pro132=) c.735A>C (p.Pro245=) | |
X | g.108578323A>G | CA517991795 | COL4A5 | c.720A>G (p.Pro240=) c.396A>G (p.Pro132=) c.735A>G (p.Pro245=) | |
X | g.108578323A>T | CA517991794 | COL4A5 | c.720A>T (p.Pro240=) c.396A>T (p.Pro132=) c.735A>T (p.Pro245=) | |
X | g.108578324C>A | CA413924206 | COL4A5 | c.721C>A (p.Pro241Thr) c.397C>A (p.Pro133Thr) c.736C>A (p.Pro246Thr) | |
X | g.108578324C>G | CA413924212 | COL4A5 | c.721C>G (p.Pro241Ala) c.397C>G (p.Pro133Ala) c.736C>G (p.Pro246Ala) | |
X | g.108578324C>T | CA413924203 | COL4A5 | c.721C>T (p.Pro241Ser) c.397C>T (p.Pro133Ser) c.736C>T (p.Pro246Ser) | |
X | g.108578325C>A | CA334180269 | COL4A5 | c.722C>A (p.Pro241His) c.398C>A (p.Pro133His) c.737C>A (p.Pro246His) | dbSNP |
X | g.108578325C= | CA2450682325 | COL4A5 | c.722C= (p.Pro241=) c.398C= (p.Pro133=) c.737C= (p.Pro246=) | |
X | g.108578325C>G | CA413924218 | COL4A5 | c.722C>G (p.Pro241Arg) c.398C>G (p.Pro133Arg) c.737C>G (p.Pro246Arg) | |
X | g.108578325C>T | CA413924220 | COL4A5 | c.722C>T (p.Pro241Leu) c.398C>T (p.Pro133Leu) c.737C>T (p.Pro246Leu) | |
X | g.108578326T>A | CA517991796 | COL4A5 | c.723T>A (p.Pro241=) c.399T>A (p.Pro133=) c.738T>A (p.Pro246=) | |
X | g.108578326T>C | CA517991797 | COL4A5 | c.723T>C (p.Pro241=) c.399T>C (p.Pro133=) c.738T>C (p.Pro246=) | gnomAD v4 |
X | g.108578326T>G | CA517991798 | COL4A5 | c.723T>G (p.Pro241=) c.399T>G (p.Pro133=) c.738T>G (p.Pro246=) | |
X | g.108578327G>A | CA413924224 | COL4A5 | c.724G>A (p.Gly242Arg) c.400G>A (p.Gly134Arg) c.739G>A (p.Gly247Arg) | |
X | g.108578327G>C | CA413924226 | COL4A5 | c.724G>C (p.Gly242Arg) c.400G>C (p.Gly134Arg) c.739G>C (p.Gly247Arg) | |
X | g.108578327G>T | CA413924227 | COL4A5 | c.724G>T (p.Gly242Trp) c.400G>T (p.Gly134Trp) c.739G>T (p.Gly247Trp) | |
X | g.108578328G>A | CA413924229 | COL4A5 | c.725G>A (p.Gly242Glu) c.401G>A (p.Gly134Glu) c.740G>A (p.Gly247Glu) | |
X | g.108578328G>C | CA413924232 | COL4A5 | c.725G>C (p.Gly242Ala) c.401G>C (p.Gly134Ala) c.740G>C (p.Gly247Ala) | |
X | g.108578328G>T | CA413924234 | COL4A5 | c.725G>T (p.Gly242Val) c.401G>T (p.Gly134Val) c.740G>T (p.Gly247Val) | |
X | g.108578329G>A | CA10488552 | COL4A5 | c.726G>A (p.Gly242=) c.402G>A (p.Gly134=) c.741G>A (p.Gly247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578329G>C | CA517991799 | COL4A5 | c.726G>C (p.Gly242=) c.402G>C (p.Gly134=) c.741G>C (p.Gly247=) | |
X | g.108578329G= | CA2450682326 | COL4A5 | c.726G= (p.Gly242=) c.402G= (p.Gly134=) c.741G= (p.Gly247=) | |
X | g.108578329G>T | CA517991800 | COL4A5 | c.726G>T (p.Gly242=) c.402G>T (p.Gly134=) c.741G>T (p.Gly247=) | |
X | g.108578330C>A | CA413924237 | COL4A5 | c.727C>A (p.Gln243Lys) c.403C>A (p.Gln135Lys) c.742C>A (p.Gln248Lys) | |
X | g.108578330C>G | CA413924239 | COL4A5 | c.727C>G (p.Gln243Glu) c.403C>G (p.Gln135Glu) c.742C>G (p.Gln248Glu) | |
X | g.108578330C>T | CA413924242 | COL4A5 | c.727C>T (p.Gln243Ter) c.403C>T (p.Gln135Ter) c.742C>T (p.Gln248Ter) | |
X | g.108578331A>C | CA413924253 | COL4A5 | c.728A>C (p.Gln243Pro) c.404A>C (p.Gln135Pro) c.743A>C (p.Gln248Pro) | |
X | g.108578331A>G | CA413924247 | COL4A5 | c.728A>G (p.Gln243Arg) c.404A>G (p.Gln135Arg) c.743A>G (p.Gln248Arg) | |
X | g.108578331A>T | CA413924250 | COL4A5 | c.728A>T (p.Gln243Leu) c.404A>T (p.Gln135Leu) c.743A>T (p.Gln248Leu) | |
X | g.108578332G>A | CA517991801 | COL4A5 | c.729G>A (p.Gln243=) c.405G>A (p.Gln135=) c.744G>A (p.Gln248=) | |
X | g.108578332G>C | CA413924256 | COL4A5 | c.729G>C (p.Gln243His) c.405G>C (p.Gln135His) c.744G>C (p.Gln248His) | |
X | g.108578332G>T | CA413924257 | COL4A5 | c.729G>T (p.Gln243His) c.405G>T (p.Gln135His) c.744G>T (p.Gln248His) | COSMIC COSMIC |
X | g.108578333A= | CA2450682327 | COL4A5 | c.730A= (p.Ile244=) c.406A= (p.Ile136=) c.745A= (p.Ile249=) | |
X | g.108578333A>C | CA413924258 | COL4A5 | c.730A>C (p.Ile244Leu) c.406A>C (p.Ile136Leu) c.745A>C (p.Ile249Leu) | gnomAD v4 |
X | g.108578333A>G | CA413924259 | COL4A5 | c.730A>G (p.Ile244Val) c.406A>G (p.Ile136Val) c.745A>G (p.Ile249Val) | |
X | g.108578333A>T | CA10488553 | COL4A5 | c.730A>T (p.Ile244Phe) c.406A>T (p.Ile136Phe) c.745A>T (p.Ile249Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578334T>A | CA413924260 | COL4A5 | c.731T>A (p.Ile244Asn) c.407T>A (p.Ile136Asn) c.746T>A (p.Ile249Asn) | |
X | g.108578334T>C | CA413924262 | COL4A5 | c.731T>C (p.Ile244Thr) c.407T>C (p.Ile136Thr) c.746T>C (p.Ile249Thr) | |
X | g.108578334T>G | CA413924264 | COL4A5 | c.731T>G (p.Ile244Ser) c.407T>G (p.Ile136Ser) c.746T>G (p.Ile249Ser) | |
X | g.108578335C>A | CA517991802 | COL4A5 | c.732C>A (p.Ile244=) c.408C>A (p.Ile136=) c.747C>A (p.Ile249=) | gnomAD v4 |
X | g.108578335C= | CA2450682328 | COL4A5 | c.732C= (p.Ile244=) c.408C= (p.Ile136=) c.747C= (p.Ile249=) | |
X | g.108578335C>G | CA413924265 | COL4A5 | c.732C>G (p.Ile244Met) c.408C>G (p.Ile136Met) c.747C>G (p.Ile249Met) | dbSNP |
X | g.108578335C>T | CA517991803 | COL4A5 | c.732C>T (p.Ile244=) c.408C>T (p.Ile136=) c.747C>T (p.Ile249=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578336A>C | CA413924268 | COL4A5 | c.733A>C (p.Ser245Arg) c.409A>C (p.Ser137Arg) c.748A>C (p.Ser250Arg) | |
X | g.108578336A>G | CA413924270 | COL4A5 | c.733A>G (p.Ser245Gly) c.409A>G (p.Ser137Gly) c.748A>G (p.Ser250Gly) | |
X | g.108578336A>T | CA413924273 | COL4A5 | c.733A>T (p.Ser245Cys) c.409A>T (p.Ser137Cys) c.748A>T (p.Ser250Cys) | |
X | g.108578337G>A | CA413924276 | COL4A5 | c.734G>A (p.Ser245Asn) c.410G>A (p.Ser137Asn) c.749G>A (p.Ser250Asn) | gnomAD v4 |
X | g.108578337G>C | CA413924281 | COL4A5 | c.734G>C (p.Ser245Thr) c.410G>C (p.Ser137Thr) c.749G>C (p.Ser250Thr) | |
X | g.108578337G>T | CA413924279 | COL4A5 | c.734G>T (p.Ser245Ile) c.410G>T (p.Ser137Ile) c.749G>T (p.Ser250Ile) | |
X | g.108578338T>A | CA413924283 | COL4A5 | c.735T>A (p.Ser245Arg) c.411T>A (p.Ser137Arg) c.750T>A (p.Ser250Arg) | |
X | g.108578338T>C | CA10488554 | COL4A5 | c.735T>C (p.Ser245=) c.411T>C (p.Ser137=) c.750T>C (p.Ser250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578338T>G | CA413924286 | COL4A5 | c.735T>G (p.Ser245Arg) c.411T>G (p.Ser137Arg) c.750T>G (p.Ser250Arg) | |
X | g.108578338T= | CA2450682329 | COL4A5 | c.735T= (p.Ser245=) c.411T= (p.Ser137=) c.750T= (p.Ser250=) | |
X | g.108578339G>A | CA413924291 | COL4A5 | c.736G>A (p.Glu246Lys) c.412G>A (p.Glu138Lys) c.751G>A (p.Glu251Lys) | |
X | g.108578339G>C | CA413924300 | COL4A5 | c.736G>C (p.Glu246Gln) c.412G>C (p.Glu138Gln) c.751G>C (p.Glu251Gln) | |
X | g.108578339G>T | CA413924306 | COL4A5 | c.736G>T (p.Glu246Ter) c.412G>T (p.Glu138Ter) c.751G>T (p.Glu251Ter) | |
X | g.108578341_108578350del | CA2739289599 | COL4A5 | c.738_747del (p.Glu246AspfsTer5) c.414_423del (p.Glu138AspfsTer5) c.753_762del (p.Glu251AspfsTer5) | |
X | g.108578340A>C | CA413924308 | COL4A5 | c.737A>C (p.Glu246Ala) c.413A>C (p.Glu138Ala) c.752A>C (p.Glu251Ala) | |
X | g.108578340A>G | CA413924310 | COL4A5 | c.737A>G (p.Glu246Gly) c.413A>G (p.Glu138Gly) c.752A>G (p.Glu251Gly) | COSMIC |
X | g.108578340A>T | CA413924318 | COL4A5 | c.737A>T (p.Glu246Val) c.413A>T (p.Glu138Val) c.752A>T (p.Glu251Val) | |
X | g.108578341A>C | CA413924320 | COL4A5 | c.738A>C (p.Glu246Asp) c.414A>C (p.Glu138Asp) c.753A>C (p.Glu251Asp) | |
X | g.108578341A>G | CA517991804 | COL4A5 | c.738A>G (p.Glu246=) c.414A>G (p.Glu138=) c.753A>G (p.Glu251=) | |
X | g.108578341A>T | CA413924322 | COL4A5 | c.738A>T (p.Glu246Asp) c.414A>T (p.Glu138Asp) c.753A>T (p.Glu251Asp) | |
X | g.108578342C>A | CA413924330 | COL4A5 | c.739C>A (p.Gln247Lys) c.415C>A (p.Gln139Lys) c.754C>A (p.Gln252Lys) | |
X | g.108578342C>G | CA413924332 | COL4A5 | c.739C>G (p.Gln247Glu) c.415C>G (p.Gln139Glu) c.754C>G (p.Gln252Glu) | |
X | g.108578342C>T | CA413924333 | COL4A5 | c.739C>T (p.Gln247Ter) c.415C>T (p.Gln139Ter) c.754C>T (p.Gln252Ter) | |
X | g.108578343A>C | CA413924337 | COL4A5 | c.740A>C (p.Gln247Pro) c.416A>C (p.Gln139Pro) c.755A>C (p.Gln252Pro) | |
X | g.108578343A>G | CA413924335 | COL4A5 | c.740A>G (p.Gln247Arg) c.416A>G (p.Gln139Arg) c.755A>G (p.Gln252Arg) | |
X | g.108578343A>T | CA413924334 | COL4A5 | c.740A>T (p.Gln247Leu) c.416A>T (p.Gln139Leu) c.755A>T (p.Gln252Leu) | |
X | g.108578344G>A | CA517991805 | COL4A5 | c.741G>A (p.Gln247=) c.417G>A (p.Gln139=) c.756G>A (p.Gln252=) | ClinVar COSMIC COSMIC |
X | g.108578344G>C | CA413924338 | COL4A5 | c.741G>C (p.Gln247His) c.417G>C (p.Gln139His) c.756G>C (p.Gln252His) | |
X | g.108578344G>T | CA413924339 | COL4A5 | c.741G>T (p.Gln247His) c.417G>T (p.Gln139His) c.756G>T (p.Gln252His) | |
X | g.108578345A>C | CA413924343 | COL4A5 | c.742A>C (p.Lys248Gln) c.418A>C (p.Lys140Gln) c.757A>C (p.Lys253Gln) | |
X | g.108578345A>G | CA413924344 | COL4A5 | c.742A>G (p.Lys248Glu) c.418A>G (p.Lys140Glu) c.757A>G (p.Lys253Glu) | |
X | g.108578345A>T | CA413924346 | COL4A5 | c.742A>T (p.Lys248Ter) c.418A>T (p.Lys140Ter) c.757A>T (p.Lys253Ter) | |
X | g.108578346A>C | CA413924353 | COL4A5 | c.743A>C (p.Lys248Thr) c.419A>C (p.Lys140Thr) c.758A>C (p.Lys253Thr) | |
X | g.108578346A>G | CA413924355 | COL4A5 | c.743A>G (p.Lys248Arg) c.419A>G (p.Lys140Arg) c.758A>G (p.Lys253Arg) | |
X | g.108578346A>T | CA413924357 | COL4A5 | c.743A>T (p.Lys248Ile) c.419A>T (p.Lys140Ile) c.758A>T (p.Lys253Ile) | |
X | g.108578347A>C | CA413924360 | COL4A5 | c.744A>C (p.Lys248Asn) c.420A>C (p.Lys140Asn) c.759A>C (p.Lys253Asn) | |
X | g.108578347A>G | CA517991806 | COL4A5 | c.744A>G (p.Lys248=) c.420A>G (p.Lys140=) c.759A>G (p.Lys253=) | |
X | g.108578347A>T | CA413924361 | COL4A5 | c.744A>T (p.Lys248Asn) c.420A>T (p.Lys140Asn) c.759A>T (p.Lys253Asn) | |
X | g.108578348A= | CA2450682330 | COL4A5 | c.745A= (p.Arg249=) c.421A= (p.Arg141=) c.760A= (p.Arg254=) | |
X | g.108578348A>C | CA517991807 | COL4A5 | c.745A>C (p.Arg249=) c.421A>C (p.Arg141=) c.760A>C (p.Arg254=) | |
X | g.108578348A>G | CA413924364 | COL4A5 | c.745A>G (p.Arg249Gly) c.421A>G (p.Arg141Gly) c.760A>G (p.Arg254Gly) | |
X | g.108578348A>T | CA413924365 | COL4A5 | c.745A>T (p.Arg249Ter) c.421A>T (p.Arg141Ter) c.760A>T (p.Arg254Ter) | ClinVar dbSNP |
X | g.108578349G>A | CA334180273 | COL4A5 | c.746G>A (p.Arg249Lys) c.422G>A (p.Arg141Lys) c.761G>A (p.Arg254Lys) | dbSNP |
X | g.108578349G>C | CA413924370 | COL4A5 | c.746G>C (p.Arg249Thr) c.422G>C (p.Arg141Thr) c.761G>C (p.Arg254Thr) | |
X | g.108578349G= | CA2450682331 | COL4A5 | c.746G= (p.Arg249=) c.422G= (p.Arg141=) c.761G= (p.Arg254=) | |
X | g.108578349G>T | CA413924368 | COL4A5 | c.746G>T (p.Arg249Ile) c.422G>T (p.Arg141Ile) c.761G>T (p.Arg254Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578350A= | CA2450682332 | COL4A5 | c.747A= (p.Arg249=) c.423A= (p.Arg141=) c.762A= (p.Arg254=) | |
X | g.108578350A>C | CA10488555 | COL4A5 | c.747A>C (p.Arg249Ser) c.423A>C (p.Arg141Ser) c.762A>C (p.Arg254Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578350A>G | CA517991808 | COL4A5 | c.747A>G (p.Arg249=) c.423A>G (p.Arg141=) c.762A>G (p.Arg254=) | gnomAD v4 |
X | g.108578350A>T | CA413924374 | COL4A5 | c.747A>T (p.Arg249Ser) c.423A>T (p.Arg141Ser) c.762A>T (p.Arg254Ser) | |
X | g.108578351C>A | CA413924376 | COL4A5 | c.748C>A (p.Pro250Thr) c.424C>A (p.Pro142Thr) c.763C>A (p.Pro255Thr) | COSMIC COSMIC |
X | g.108578351C>G | CA413924378 | COL4A5 | c.748C>G (p.Pro250Ala) c.424C>G (p.Pro142Ala) c.763C>G (p.Pro255Ala) | |
X | g.108578351C>T | CA413924381 | COL4A5 | c.748C>T (p.Pro250Ser) c.424C>T (p.Pro142Ser) c.763C>T (p.Pro255Ser) | |
X | g.108578352C>A | CA413924387 | COL4A5 | c.749C>A (p.Pro250Gln) c.425C>A (p.Pro142Gln) c.764C>A (p.Pro255Gln) | |
X | g.108578352C>G | CA413924389 | COL4A5 | c.749C>G (p.Pro250Arg) c.425C>G (p.Pro142Arg) c.764C>G (p.Pro255Arg) | |
X | g.108578352C>T | CA413924392 | COL4A5 | c.749C>T (p.Pro250Leu) c.425C>T (p.Pro142Leu) c.764C>T (p.Pro255Leu) | gnomAD v4 |
X | g.108578353A= | CA2450682333 | COL4A5 | c.750A= (p.Pro250=) c.426A= (p.Pro142=) c.765A= (p.Pro255=) | |
X | g.108578353A>C | CA517991809 | COL4A5 | c.750A>C (p.Pro250=) c.426A>C (p.Pro142=) c.765A>C (p.Pro255=) | |
X | g.108578353A>G | CA517991810 | COL4A5 | c.750A>G (p.Pro250=) c.426A>G (p.Pro142=) c.765A>G (p.Pro255=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578353A>T | CA517991811 | COL4A5 | c.750A>T (p.Pro250=) c.426A>T (p.Pro142=) c.765A>T (p.Pro255=) | |
X | g.108578354A= | CA2450682334 | COL4A5 | c.751A= (p.Ile251=) c.427A= (p.Ile143=) c.766A= (p.Ile256=) | |
X | g.108578354A>C | CA413924395 | COL4A5 | c.751A>C (p.Ile251Leu) c.427A>C (p.Ile143Leu) c.766A>C (p.Ile256Leu) | |
X | g.108578354A>G | CA10488556 | COL4A5 | c.751A>G (p.Ile251Val) c.427A>G (p.Ile143Val) c.766A>G (p.Ile256Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578354A>T | CA413924401 | COL4A5 | c.751A>T (p.Ile251Phe) c.427A>T (p.Ile143Phe) c.766A>T (p.Ile256Phe) | |
X | g.108578355T>A | CA413924404 | COL4A5 | c.752T>A (p.Ile251Asn) c.428T>A (p.Ile143Asn) c.767T>A (p.Ile256Asn) | |
X | g.108578355T>C | CA413924407 | COL4A5 | c.752T>C (p.Ile251Thr) c.428T>C (p.Ile143Thr) c.767T>C (p.Ile256Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578355T>G | CA413924414 | COL4A5 | c.752T>G (p.Ile251Ser) c.428T>G (p.Ile143Ser) c.767T>G (p.Ile256Ser) | |
X | g.108578355T= | CA2450682335 | COL4A5 | c.752T= (p.Ile251=) c.428T= (p.Ile143=) c.767T= (p.Ile256=) | |
X | g.108578356T>A | CA517991812 | COL4A5 | c.753T>A (p.Ile251=) c.429T>A (p.Ile143=) c.768T>A (p.Ile256=) | |
X | g.108578356T>C | CA517991813 | COL4A5 | c.753T>C (p.Ile251=) c.429T>C (p.Ile143=) c.768T>C (p.Ile256=) | |
X | g.108578356T>G | CA413924415 | COL4A5 | c.753T>G (p.Ile251Met) c.429T>G (p.Ile143Met) c.768T>G (p.Ile256Met) | |
X | g.108578357G>A | CA413924416 | COL4A5 | c.754G>A (p.Asp252Asn) c.430G>A (p.Asp144Asn) c.769G>A (p.Asp257Asn) | |
X | g.108578357G>C | CA413924417 | COL4A5 | c.754G>C (p.Asp252His) c.430G>C (p.Asp144His) c.769G>C (p.Asp257His) | gnomAD v4 |
X | g.108578357G>T | CA413924423 | COL4A5 | c.754G>T (p.Asp252Tyr) c.430G>T (p.Asp144Tyr) c.769G>T (p.Asp257Tyr) | |
X | g.108578358A>C | CA413924428 | COL4A5 | c.755A>C (p.Asp252Ala) c.431A>C (p.Asp144Ala) c.770A>C (p.Asp257Ala) | |
X | g.108578358A>G | CA413924434 | COL4A5 | c.755A>G (p.Asp252Gly) c.431A>G (p.Asp144Gly) c.770A>G (p.Asp257Gly) | |
X | g.108578358A>T | CA413924435 | COL4A5 | c.755A>T (p.Asp252Val) c.431A>T (p.Asp144Val) c.770A>T (p.Asp257Val) | |
X | g.108578359T>A | CA413924440 | COL4A5 | c.756T>A (p.Asp252Glu) c.432T>A (p.Asp144Glu) c.771T>A (p.Asp257Glu) | |
X | g.108578359T>C | CA10488557 | COL4A5 | c.756T>C (p.Asp252=) c.432T>C (p.Asp144=) c.771T>C (p.Asp257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578359T>G | CA413924445 | COL4A5 | c.756T>G (p.Asp252Glu) c.432T>G (p.Asp144Glu) c.771T>G (p.Asp257Glu) | |
X | g.108578359T= | CA2450682336 | COL4A5 | c.756T= (p.Asp252=) c.432T= (p.Asp144=) c.771T= (p.Asp257=) | |
X | g.108578359_108578360delinsTG | CA2450682337 | COL4A5 | c.756_757delinsTG (p.Asp252=) c.432_433delinsTG (p.Asp144=) c.771_772delinsTG (p.Asp257=) | |
X | g.108578360G>A | CA10488558 | COL4A5 | c.757G>A (p.Val253Ile) c.433G>A (p.Val145Ile) c.772G>A (p.Val258Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578360G>C | CA413924451 | COL4A5 | c.757G>C (p.Val253Leu) c.433G>C (p.Val145Leu) c.772G>C (p.Val258Leu) | |
X | g.108578360G= | CA2450682339 | COL4A5 | c.757G= (p.Val253=) c.433G= (p.Val145=) c.772G= (p.Val258=) | |
X | g.108578360G>T | CA413924454 | COL4A5 | c.757G>T (p.Val253Leu) c.433G>T (p.Val145Leu) c.772G>T (p.Val258Leu) | |
X | g.108578360delinsCT | CA2450682338 | COL4A5 | c.757delinsCT (p.Val253LeufsTer13) c.433delinsCT (p.Val145LeufsTer13) c.772delinsCT (p.Val258LeufsTer13) | ClinVar dbSNP |
X | g.108578361T>A | CA413924456 | COL4A5 | c.758T>A (p.Val253Glu) c.434T>A (p.Val145Glu) c.773T>A (p.Val258Glu) | |
X | g.108578361T>C | CA413924474 | COL4A5 | c.758T>C (p.Val253Ala) c.434T>C (p.Val145Ala) c.773T>C (p.Val258Ala) | |
X | g.108578361T>G | CA413924459 | COL4A5 | c.758T>G (p.Val253Gly) c.434T>G (p.Val145Gly) c.773T>G (p.Val258Gly) | |
X | g.108578361_108578363delinsTAG | CA2450682340 | COL4A5 | c.758_760delinsTAG (p.Val253=) c.434_436delinsTAG (p.Val145=) c.773_775delinsTAG (p.Val258=) | |
X | g.108578362del | CA2579675950 | COL4A5 | c.759del (p.Glu254SerfsTer?) c.435del (p.Glu146SerfsTer?) c.774del (p.Glu259SerfsTer?) | |
X | g.108578362A= | CA2450682341 | COL4A5 | c.759A= (p.Val253=) c.435A= (p.Val145=) c.774A= (p.Val258=) | |
X | g.108578362A>C | CA517991814 | COL4A5 | c.759A>C (p.Val253=) c.435A>C (p.Val145=) c.774A>C (p.Val258=) | |
X | g.108578362A>G | CA517991815 | COL4A5 | c.759A>G (p.Val253=) c.435A>G (p.Val145=) c.774A>G (p.Val258=) | dbSNP |
X | g.108578362A>T | CA517991816 | COL4A5 | c.759A>T (p.Val253=) c.435A>T (p.Val145=) c.774A>T (p.Val258=) | |
X | g.108578364_108578365del | CA258320 | COL4A5 | c.761_762del (p.Glu254ValfsTer11) c.437_438del (p.Glu146ValfsTer11) c.776_777del (p.Glu259ValfsTer11) | ClinVar dbSNP |
X | g.108578363G>A | CA413924477 | COL4A5 | c.760G>A (p.Glu254Lys) c.436G>A (p.Glu146Lys) c.775G>A (p.Glu259Lys) | |
X | g.108578363G>C | CA413924481 | COL4A5 | c.760G>C (p.Glu254Gln) c.436G>C (p.Glu146Gln) c.775G>C (p.Glu259Gln) | |
X | g.108578363G>T | CA413924479 | COL4A5 | c.760G>T (p.Glu254Ter) c.436G>T (p.Glu146Ter) c.775G>T (p.Glu259Ter) | ClinVar |
X | g.108578364A= | CA2450682342 | COL4A5 | c.761A= (p.Glu254=) c.437A= (p.Glu146=) c.776A= (p.Glu259=) | |
X | g.108578364A>C | CA10488559 | COL4A5 | c.761A>C (p.Glu254Ala) c.437A>C (p.Glu146Ala) c.776A>C (p.Glu259Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578364A>G | CA413924492 | COL4A5 | c.761A>G (p.Glu254Gly) c.437A>G (p.Glu146Gly) c.776A>G (p.Glu259Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578364A>T | CA413924494 | COL4A5 | c.761A>T (p.Glu254Val) c.437A>T (p.Glu146Val) c.776A>T (p.Glu259Val) | |
X | g.108578365G>A | CA517991817 | COL4A5 | c.762G>A (p.Glu254=) c.438G>A (p.Glu146=) c.777G>A (p.Glu259=) | |
X | g.108578365G>C | CA413924498 | COL4A5 | c.762G>C (p.Glu254Asp) c.438G>C (p.Glu146Asp) c.777G>C (p.Glu259Asp) | |
X | g.108578365G>T | CA413924499 | COL4A5 | c.762G>T (p.Glu254Asp) c.438G>T (p.Glu146Asp) c.777G>T (p.Glu259Asp) | |
X | g.108578366T>A | CA413924503 | COL4A5 | c.763T>A (p.Phe255Ile) c.439T>A (p.Phe147Ile) c.778T>A (p.Phe260Ile) | |
X | g.108578366T>C | CA413924505 | COL4A5 | c.763T>C (p.Phe255Leu) c.439T>C (p.Phe147Leu) c.778T>C (p.Phe260Leu) | |
X | g.108578366T>G | CA413924508 | COL4A5 | c.763T>G (p.Phe255Val) c.439T>G (p.Phe147Val) c.778T>G (p.Phe260Val) | |
X | g.108578367T>A | CA413924511 | COL4A5 | c.764T>A (p.Phe255Tyr) c.440T>A (p.Phe147Tyr) c.779T>A (p.Phe260Tyr) | |
X | g.108578367T>C | CA413924516 | COL4A5 | c.764T>C (p.Phe255Ser) c.440T>C (p.Phe147Ser) c.779T>C (p.Phe260Ser) | |
X | g.108578367T>G | CA413924521 | COL4A5 | c.764T>G (p.Phe255Cys) c.440T>G (p.Phe147Cys) c.779T>G (p.Phe260Cys) | |
X | g.108578368T>A | CA413924524 | COL4A5 | c.765T>A (p.Phe255Leu) c.441T>A (p.Phe147Leu) c.780T>A (p.Phe260Leu) | |
X | g.108578368T>C | CA517991818 | COL4A5 | c.765T>C (p.Phe255=) c.441T>C (p.Phe147=) c.780T>C (p.Phe260=) | |
X | g.108578368T>G | CA413924526 | COL4A5 | c.765T>G (p.Phe255Leu) c.441T>G (p.Phe147Leu) c.780T>G (p.Phe260Leu) | |
X | g.108578369C>A | CA413924545 | COL4A5 | c.766C>A (p.Gln256Lys) c.442C>A (p.Gln148Lys) c.781C>A (p.Gln261Lys) | |
X | g.108578369C>G | CA413924539 | COL4A5 | c.766C>G (p.Gln256Glu) c.442C>G (p.Gln148Glu) c.781C>G (p.Gln261Glu) | |
X | g.108578369C>T | CA413924543 | COL4A5 | c.766C>T (p.Gln256Ter) c.442C>T (p.Gln148Ter) c.781C>T (p.Gln261Ter) | |
X | g.108578370A>C | CA413924550 | COL4A5 | c.767A>C (p.Gln256Pro) c.443A>C (p.Gln148Pro) c.782A>C (p.Gln261Pro) | |
X | g.108578370A>G | CA413924552 | COL4A5 | c.767A>G (p.Gln256Arg) c.443A>G (p.Gln148Arg) c.782A>G (p.Gln261Arg) | gnomAD v4 |
X | g.108578370A>T | CA413924556 | COL4A5 | c.767A>T (p.Gln256Leu) c.443A>T (p.Gln148Leu) c.782A>T (p.Gln261Leu) | |
X | g.108578373_108578379del | CA2580612288 | COL4A5 | c.770_776del (p.Lys257IlefsTer?) c.446_452del (p.Lys149IlefsTer?) c.785_791del (p.Lys262IlefsTer?) | ClinVar |
X | g.108578371G>A | CA517991819 | COL4A5 | c.768G>A (p.Gln256=) c.444G>A (p.Gln148=) c.783G>A (p.Gln261=) | COSMIC |
X | g.108578371G>C | CA413924559 | COL4A5 | c.768G>C (p.Gln256His) c.444G>C (p.Gln148His) c.783G>C (p.Gln261His) | ClinVar dbSNP |
X | g.108578371G>T | CA413924563 | COL4A5 | c.768G>T (p.Gln256His) c.444G>T (p.Gln148His) c.783G>T (p.Gln261His) | COSMIC COSMIC |