Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108581002G>A | CA413926874 | COL4A5 | c.911G>A (p.Gly304Glu) c.587G>A (p.Gly196Glu) c.926G>A (p.Gly309Glu) | |
X | g.108581002G>C | CA413926877 | COL4A5 | c.911G>C (p.Gly304Ala) c.587G>C (p.Gly196Ala) c.926G>C (p.Gly309Ala) | |
X | g.108581002G>T | CA413926879 | COL4A5 | c.911G>T (p.Gly304Val) c.587G>T (p.Gly196Val) c.926G>T (p.Gly309Val) | |
X | g.108581003A>C | CA517991927 | COL4A5 | c.912A>C (p.Gly304=) c.588A>C (p.Gly196=) c.927A>C (p.Gly309=) | |
X | g.108581003A>G | CA517991928 | COL4A5 | c.912A>G (p.Gly304=) c.588A>G (p.Gly196=) c.927A>G (p.Gly309=) | |
X | g.108581003A>T | CA517991929 | COL4A5 | c.912A>T (p.Gly304=) c.588A>T (p.Gly196=) c.927A>T (p.Gly309=) | |
X | g.108581004G>A | CA413926887 | COL4A5 | c.913G>A (p.Glu305Lys) c.589G>A (p.Glu197Lys) c.928G>A (p.Glu310Lys) | |
X | g.108581004G>C | CA413926894 | COL4A5 | c.913G>C (p.Glu305Gln) c.589G>C (p.Glu197Gln) c.928G>C (p.Glu310Gln) | |
X | g.108581004G= | CA2450683194 | COL4A5 | c.913G= (p.Glu305=) c.589G= (p.Glu197=) c.928G= (p.Glu310=) | |
X | g.108581004G>T | CA258353 | COL4A5 | c.913G>T (p.Glu305Ter) c.589G>T (p.Glu197Ter) c.928G>T (p.Glu310Ter) | ClinVar dbSNP |
X | g.108581004_108581005delinsGA | CA2450683195 | COL4A5 | c.913_914delinsGA (p.Glu305=) c.589_590delinsGA (p.Glu197=) c.928_929delinsGA (p.Glu310=) | |
X | g.108581005A>C | CA413926897 | COL4A5 | c.914A>C (p.Glu305Ala) c.590A>C (p.Glu197Ala) c.929A>C (p.Glu310Ala) | |
X | g.108581005A>G | CA413926899 | COL4A5 | c.914A>G (p.Glu305Gly) c.590A>G (p.Glu197Gly) c.929A>G (p.Glu310Gly) | |
X | g.108581005A>T | CA413926900 | COL4A5 | c.914A>T (p.Glu305Val) c.590A>T (p.Glu197Val) c.929A>T (p.Glu310Val) | |
X | g.108581008del | CA517991930 | COL4A5 | c.917del (p.Asn306MetfsTer?) c.593del (p.Asn198MetfsTer?) c.932del (p.Asn311MetfsTer?) | ClinVar dbSNP COSMIC COSMIC |
X | g.108581006A>C | CA413926903 | COL4A5 | c.915A>C (p.Glu305Asp) c.591A>C (p.Glu197Asp) c.930A>C (p.Glu310Asp) | |
X | g.108581006A>G | CA517991931 | COL4A5 | c.915A>G (p.Glu305=) c.591A>G (p.Glu197=) c.930A>G (p.Glu310=) | |
X | g.108581006A>T | CA413926904 | COL4A5 | c.915A>T (p.Glu305Asp) c.591A>T (p.Glu197Asp) c.930A>T (p.Glu310Asp) | |
X | g.108581007A>C | CA413926909 | COL4A5 | c.916A>C (p.Asn306His) c.592A>C (p.Asn198His) c.931A>C (p.Asn311His) | |
X | g.108581007A>G | CA413926912 | COL4A5 | c.916A>G (p.Asn306Asp) c.592A>G (p.Asn198Asp) c.931A>G (p.Asn311Asp) | |
X | g.108581007A>T | CA413926907 | COL4A5 | c.916A>T (p.Asn306Tyr) c.592A>T (p.Asn198Tyr) c.931A>T (p.Asn311Tyr) | |
X | g.108581008A>C | CA413926929 | COL4A5 | c.917A>C (p.Asn306Thr) c.593A>C (p.Asn198Thr) c.932A>C (p.Asn311Thr) | |
X | g.108581008A>G | CA413926923 | COL4A5 | c.917A>G (p.Asn306Ser) c.593A>G (p.Asn198Ser) c.932A>G (p.Asn311Ser) | |
X | g.108581008A>T | CA413926926 | COL4A5 | c.917A>T (p.Asn306Ile) c.593A>T (p.Asn198Ile) c.932A>T (p.Asn311Ile) | |
X | g.108581009T>A | CA413926943 | COL4A5 | c.918T>A (p.Asn306Lys) c.594T>A (p.Asn198Lys) c.933T>A (p.Asn311Lys) | |
X | g.108581009T>C | CA517991932 | COL4A5 | c.918T>C (p.Asn306=) c.594T>C (p.Asn198=) c.933T>C (p.Asn311=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581009T>G | CA413926945 | COL4A5 | c.918T>G (p.Asn306Lys) c.594T>G (p.Asn198Lys) c.933T>G (p.Asn311Lys) | |
X | g.108581009T= | CA2450683196 | COL4A5 | c.918T= (p.Asn306=) c.594T= (p.Asn198=) c.933T= (p.Asn311=) | |
X | g.108581010G>A | CA413926949 | COL4A5 | c.919G>A (p.Gly307Ser) c.595G>A (p.Gly199Ser) c.934G>A (p.Gly312Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108581010G>C | CA413926951 | COL4A5 | c.919G>C (p.Gly307Arg) c.595G>C (p.Gly199Arg) c.934G>C (p.Gly312Arg) | ClinVar |
X | g.108581010G>T | CA413926955 | COL4A5 | c.919G>T (p.Gly307Cys) c.595G>T (p.Gly199Cys) c.934G>T (p.Gly312Cys) | gnomAD v4 |
X | g.108581011G>A | CA258356 | COL4A5 | c.920G>A (p.Gly307Asp) c.596G>A (p.Gly199Asp) c.935G>A (p.Gly312Asp) | ClinVar dbSNP COSMIC |
X | g.108581011G>C | CA413926961 | COL4A5 | c.920G>C (p.Gly307Ala) c.596G>C (p.Gly199Ala) c.935G>C (p.Gly312Ala) | |
X | g.108581011G= | CA2450683197 | COL4A5 | c.920G= (p.Gly307=) c.596G= (p.Gly199=) c.935G= (p.Gly312=) | |
X | g.108581011G>T | CA413926963 | COL4A5 | c.920G>T (p.Gly307Val) c.596G>T (p.Gly199Val) c.935G>T (p.Gly312Val) | |
X | g.108581012C>A | CA517991933 | COL4A5 | c.921C>A (p.Gly307=) c.597C>A (p.Gly199=) c.936C>A (p.Gly312=) | gnomAD v4 |
X | g.108581012C>G | CA517991934 | COL4A5 | c.921C>G (p.Gly307=) c.597C>G (p.Gly199=) c.936C>G (p.Gly312=) | |
X | g.108581012C>T | CA517991935 | COL4A5 | c.921C>T (p.Gly307=) c.597C>T (p.Gly199=) c.936C>T (p.Gly312=) | |
X | g.108581013C>A | CA413926973 | COL4A5 | c.922C>A (p.Gln308Lys) c.598C>A (p.Gln200Lys) c.937C>A (p.Gln313Lys) | |
X | g.108581013C>G | CA413926974 | COL4A5 | c.922C>G (p.Gln308Glu) c.598C>G (p.Gln200Glu) c.937C>G (p.Gln313Glu) | |
X | g.108581013C>T | CA413926978 | COL4A5 | c.922C>T (p.Gln308Ter) c.598C>T (p.Gln200Ter) c.937C>T (p.Gln313Ter) | |
X | g.108581014A>C | CA413926984 | COL4A5 | c.923A>C (p.Gln308Pro) c.599A>C (p.Gln200Pro) c.938A>C (p.Gln313Pro) | |
X | g.108581014A>G | CA413926983 | COL4A5 | c.923A>G (p.Gln308Arg) c.599A>G (p.Gln200Arg) c.938A>G (p.Gln313Arg) | |
X | g.108581014A>T | CA413926982 | COL4A5 | c.923A>T (p.Gln308Leu) c.599A>T (p.Gln200Leu) c.938A>T (p.Gln313Leu) | |
X | g.108581015A>C | CA413926985 | COL4A5 | c.924A>C (p.Gln308His) c.600A>C (p.Gln200His) c.939A>C (p.Gln313His) | |
X | g.108581015A>G | CA517991936 | COL4A5 | c.924A>G (p.Gln308=) c.600A>G (p.Gln200=) c.939A>G (p.Gln313=) | |
X | g.108581015A>T | CA413926986 | COL4A5 | c.924A>T (p.Gln308His) c.600A>T (p.Gln200His) c.939A>T (p.Gln313His) | |
X | g.108581016C>A | CA413926988 | COL4A5 | c.925C>A (p.Pro309Thr) c.601C>A (p.Pro201Thr) c.940C>A (p.Pro314Thr) | |
X | g.108581016C= | CA2450683198 | COL4A5 | c.925C= (p.Pro309=) c.601C= (p.Pro201=) c.940C= (p.Pro314=) | |
X | g.108581016C>G | CA413926990 | COL4A5 | c.925C>G (p.Pro309Ala) c.601C>G (p.Pro201Ala) c.940C>G (p.Pro314Ala) | |
X | g.108581016C>T | CA10488620 | COL4A5 | c.925C>T (p.Pro309Ser) c.601C>T (p.Pro201Ser) c.940C>T (p.Pro314Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108581017C>A | CA413926997 | COL4A5 | c.926C>A (p.Pro309Gln) c.602C>A (p.Pro201Gln) c.941C>A (p.Pro314Gln) | |
X | g.108581017C= | CA2450683199 | COL4A5 | c.926C= (p.Pro309=) c.602C= (p.Pro201=) c.941C= (p.Pro314=) | |
X | g.108581017C>G | CA10488621 | COL4A5 | c.926C>G (p.Pro309Arg) c.602C>G (p.Pro201Arg) c.941C>G (p.Pro314Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108581017C>T | CA413927001 | COL4A5 | c.926C>T (p.Pro309Leu) c.602C>T (p.Pro201Leu) c.941C>T (p.Pro314Leu) | |
X | g.108581018A>C | CA517991937 | COL4A5 | c.927A>C (p.Pro309=) c.603A>C (p.Pro201=) c.942A>C (p.Pro314=) | |
X | g.108581018A>G | CA517991938 | COL4A5 | c.927A>G (p.Pro309=) c.603A>G (p.Pro201=) c.942A>G (p.Pro314=) | ClinVar |
X | g.108581018A>T | CA517991939 | COL4A5 | c.927A>T (p.Pro309=) c.603A>T (p.Pro201=) c.942A>T (p.Pro314=) | |
X | g.108581019G>A | CA258359 | COL4A5 | c.928G>A (p.Gly310Arg) c.604G>A (p.Gly202Arg) c.943G>A (p.Gly315Arg) | ClinVar dbSNP |
X | g.108581019G>C | CA413927016 | COL4A5 | c.928G>C (p.Gly310Arg) c.604G>C (p.Gly202Arg) c.943G>C (p.Gly315Arg) | |
X | g.108581019G= | CA2450683200 | COL4A5 | c.928G= (p.Gly310=) c.604G= (p.Gly202=) c.943G= (p.Gly315=) | |
X | g.108581019G>T | CA413927022 | COL4A5 | c.928G>T (p.Gly310Ter) c.604G>T (p.Gly202Ter) c.943G>T (p.Gly315Ter) | |
X | g.108581020G>A | CA413927026 | COL4A5 | c.929G>A (p.Gly310Glu) c.605G>A (p.Gly202Glu) c.944G>A (p.Gly315Glu) | ClinVar dbSNP COSMIC COSMIC |
X | g.108581020G>C | CA413927035 | COL4A5 | c.929G>C (p.Gly310Ala) c.605G>C (p.Gly202Ala) c.944G>C (p.Gly315Ala) | |
X | g.108581020G= | CA2450683201 | COL4A5 | c.929G= (p.Gly310=) c.605G= (p.Gly202=) c.944G= (p.Gly315=) | |
X | g.108581020G>T | CA413927039 | COL4A5 | c.929G>T (p.Gly310Val) c.605G>T (p.Gly202Val) c.944G>T (p.Gly315Val) | ClinVar dbSNP |
X | g.108581021A>C | CA517991940 | COL4A5 | c.930A>C (p.Gly310=) c.606A>C (p.Gly202=) c.945A>C (p.Gly315=) | |
X | g.108581021A>G | CA517991941 | COL4A5 | c.930A>G (p.Gly310=) c.606A>G (p.Gly202=) c.945A>G (p.Gly315=) | |
X | g.108581021A>T | CA517991942 | COL4A5 | c.930A>T (p.Gly310=) c.606A>T (p.Gly202=) c.945A>T (p.Gly315=) | |
X | g.108581022A= | CA2450683202 | COL4A5 | c.931A= (p.Ile311=) c.607A= (p.Ile203=) c.946A= (p.Ile316=) | |
X | g.108581022A>C | CA413927047 | COL4A5 | c.931A>C (p.Ile311Leu) c.607A>C (p.Ile203Leu) c.946A>C (p.Ile316Leu) | |
X | g.108581022A>G | CA413927050 | COL4A5 | c.931A>G (p.Ile311Val) c.607A>G (p.Ile203Val) c.946A>G (p.Ile316Val) | dbSNP gnomAD v4 |
X | g.108581022A>T | CA413927045 | COL4A5 | c.931A>T (p.Ile311Phe) c.607A>T (p.Ile203Phe) c.946A>T (p.Ile316Phe) | |
X | g.108581023T>A | CA413927055 | COL4A5 | c.932T>A (p.Ile311Asn) c.608T>A (p.Ile203Asn) c.947T>A (p.Ile316Asn) | |
X | g.108581023T>C | CA413927058 | COL4A5 | c.932T>C (p.Ile311Thr) c.608T>C (p.Ile203Thr) c.947T>C (p.Ile316Thr) | |
X | g.108581023T>G | CA413927061 | COL4A5 | c.932T>G (p.Ile311Ser) c.608T>G (p.Ile203Ser) c.947T>G (p.Ile316Ser) | |
X | g.108581024T>A | CA517991943 | COL4A5 | c.933T>A (p.Ile311=) c.609T>A (p.Ile203=) c.948T>A (p.Ile316=) | |
X | g.108581024T>C | CA517991944 | COL4A5 | c.933T>C (p.Ile311=) c.609T>C (p.Ile203=) c.948T>C (p.Ile316=) | |
X | g.108581024T>G | CA413927066 | COL4A5 | c.933T>G (p.Ile311Met) c.609T>G (p.Ile203Met) c.948T>G (p.Ile316Met) | |
X | g.108581024_108581025delinsTC | CA2450683203 | COL4A5 | c.933_934delinsTC (p.Ile311=) c.609_610delinsTC (p.Ile203=) c.948_949delinsTC (p.Ile316=) | |
X | g.108581025C>A | CA413927070 | COL4A5 | c.934C>A (p.Pro312Thr) c.610C>A (p.Pro204Thr) c.949C>A (p.Pro317Thr) | gnomAD v4 |
X | g.108581025C>G | CA413927073 | COL4A5 | c.934C>G (p.Pro312Ala) c.610C>G (p.Pro204Ala) c.949C>G (p.Pro317Ala) | |
X | g.108581025C>T | CA413927075 | COL4A5 | c.934C>T (p.Pro312Ser) c.610C>T (p.Pro204Ser) c.949C>T (p.Pro317Ser) | COSMIC COSMIC |
X | g.108581026del | CA658656860 | COL4A5 | c.935del (p.Pro312LeufsTer?) c.611del (p.Pro204LeufsTer?) c.950del (p.Pro317LeufsTer?) | ClinVar dbSNP |
X | g.108581026C>A | CA413927077 | COL4A5 | c.935C>A (p.Pro312His) c.611C>A (p.Pro204His) c.950C>A (p.Pro317His) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581026C= | CA2450683204 | COL4A5 | c.935C= (p.Pro312=) c.611C= (p.Pro204=) c.950C= (p.Pro317=) | |
X | g.108581026C>G | CA413927080 | COL4A5 | c.935C>G (p.Pro312Arg) c.611C>G (p.Pro204Arg) c.950C>G (p.Pro317Arg) | |
X | g.108581026C>T | CA413927084 | COL4A5 | c.935C>T (p.Pro312Leu) c.611C>T (p.Pro204Leu) c.950C>T (p.Pro317Leu) | |
X | g.108581027T>A | CA517991945 | COL4A5 | c.936T>A (p.Pro312=) c.612T>A (p.Pro204=) c.951T>A (p.Pro317=) | |
X | g.108581027T>C | CA517991946 | COL4A5 | c.936T>C (p.Pro312=) c.612T>C (p.Pro204=) c.951T>C (p.Pro317=) | |
X | g.108581027T>G | CA517991947 | COL4A5 | c.936T>G (p.Pro312=) c.612T>G (p.Pro204=) c.951T>G (p.Pro317=) | |
X | g.108581028G>A | CA413927091 | COL4A5 | c.936+1G>A (n.936+1G>A) c.612+1G>A (n.612+1G>A) c.951+1G>A (n.951+1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108581028G>C | CA413927100 | COL4A5 | c.936+1G>C (n.936+1G>C) c.612+1G>C (n.612+1G>C) c.951+1G>C (n.951+1G>C) | |
X | g.108581028G= | CA2450683205 | COL4A5 | c.936+1G= (n.936+1G=) c.612+1G= (n.612+1G=) c.951+1G= (n.951+1G=) | |
X | g.108581028G>T | CA413927119 | COL4A5 | c.936+1G>T (n.936+1G>T) c.612+1G>T (n.612+1G>T) c.951+1G>T (n.951+1G>T) | |
X | g.108581029T>A | CA413927125 | COL4A5 | c.936+2T>A (n.936+2T>A) c.612+2T>A (n.612+2T>A) c.951+2T>A (n.951+2T>A) | |
X | g.108581029T>C | CA413927122 | COL4A5 | c.936+2T>C (n.936+2T>C) c.612+2T>C (n.612+2T>C) c.951+2T>C (n.951+2T>C) | ClinVar dbSNP |
X | g.108581029T>G | CA413927123 | COL4A5 | c.936+2T>G (n.936+2T>G) c.612+2T>G (n.612+2T>G) c.951+2T>G (n.951+2T>G) | |
X | g.108581031A>C | CA645608364 | COL4A5 | c.936+4A>C (n.936+4A>C) c.612+4A>C (n.612+4A>C) c.951+4A>C (n.951+4A>C) | COSMIC COSMIC |
X | g.108581032G>A | CA2450683207 | COL4A5 | c.936+5G>A (n.936+5G>A) c.612+5G>A (n.612+5G>A) c.951+5G>A (n.951+5G>A) | dbSNP |
X | g.108581032G= | CA2450683206 | COL4A5 | c.936+5G= (n.936+5G=) c.612+5G= (n.612+5G=) c.951+5G= (n.951+5G=) | |
X | g.108581033del | CA2579676005 | COL4A5 | c.936+6del (n.936+6del) c.612+6del (n.612+6del) c.951+6del (n.951+6del) | |
X | g.108581036C= | CA2450683208 | COL4A5 | c.936+9C= (n.936+9C=) c.612+9C= (n.612+9C=) c.951+9C= (n.951+9C=) | |
X | g.108581036C>G | CA2450683209 | COL4A5 | c.936+9C>G (n.936+9C>G) c.612+9C>G (n.612+9C>G) c.951+9C>G (n.951+9C>G) | ClinVar dbSNP |
X | g.108581036C>T | CA2822895174 | COL4A5 | c.936+9C>T (n.936+9C>T) c.612+9C>T (n.612+9C>T) c.951+9C>T (n.951+9C>T) | |
X | g.108581038A>G | CA2579676006 | COL4A5 | c.936+11A>G (n.936+11A>G) c.612+11A>G (n.612+11A>G) c.951+11A>G (n.951+11A>G) | gnomAD v4 |
X | g.108581039A= | CA2450683210 | COL4A5 | c.936+12A= (n.936+12A=) c.612+12A= (n.612+12A=) c.951+12A= (n.951+12A=) | |
X | g.108581039A>C | CA2740092255 | COL4A5 | c.936+12A>C (n.936+12A>C) c.612+12A>C (n.612+12A>C) c.951+12A>C (n.951+12A>C) | ClinVar |
X | g.108581039A>G | CA643750297 | COL4A5 | c.936+12A>G (n.936+12A>G) c.612+12A>G (n.612+12A>G) c.951+12A>G (n.951+12A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108581040G>A | CA2694413137 | COL4A5 | c.936+13G>A (n.936+13G>A) c.612+13G>A (n.612+13G>A) c.951+13G>A (n.951+13G>A) | gnomAD v4 |
X | g.108581041G>A | CA2694413138 | COL4A5 | c.936+14G>A (n.936+14G>A) c.612+14G>A (n.612+14G>A) c.951+14G>A (n.951+14G>A) | gnomAD v4 |
X | g.108581041G>C | CA2694413139 | COL4A5 | c.936+14G>C (n.936+14G>C) c.612+14G>C (n.612+14G>C) c.951+14G>C (n.951+14G>C) | gnomAD v4 |
X | g.108581043T>C | CA2694413140 | COL4A5 | c.936+16T>C (n.936+16T>C) c.612+16T>C (n.612+16T>C) c.951+16T>C (n.951+16T>C) | gnomAD v4 |
X | g.108581044C>A | CA643750298 | COL4A5 | c.936+17C>A (n.936+17C>A) c.612+17C>A (n.612+17C>A) c.951+17C>A (n.951+17C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581044C= | CA2450683211 | COL4A5 | c.936+17C= (n.936+17C=) c.612+17C= (n.612+17C=) c.951+17C= (n.951+17C=) | |
X | g.108581044C>G | CA869794414 | COL4A5 | c.936+17C>G (n.936+17C>G) c.612+17C>G (n.612+17C>G) c.951+17C>G (n.951+17C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581047T>G | CA2694413141 | COL4A5 | c.936+20T>G (n.936+20T>G) c.612+20T>G (n.612+20T>G) c.951+20T>G (n.951+20T>G) | gnomAD v4 |
X | g.108581047_108581048delinsTC | CA2450683212 | COL4A5 | c.936+20_936+21delinsTC (n.936+20_936+21delinsTC) c.612+20_612+21delinsTC (n.612+20_612+21delinsTC) c.951+20_951+21delinsTC (n.951+20_951+21delinsTC) | |
X | g.108581048C= | CA2450683213 | COL4A5 | c.936+21C= (n.936+21C=) c.612+21C= (n.612+21C=) c.951+21C= (n.951+21C=) | |
X | g.108581048C>G | CA334180738 | COL4A5 | c.936+21C>G (n.936+21C>G) c.612+21C>G (n.612+21C>G) c.951+21C>G (n.951+21C>G) | dbSNP |
X | g.108581052dup | CA2694413142 | COL4A5 | c.936+25dup (n.936+25dup) c.612+25dup (n.612+25dup) c.951+25dup (n.951+25dup) | gnomAD v4 |
X | g.108581052del | CA643750299 | COL4A5 | c.936+25del (n.936+25del) c.612+25del (n.612+25del) c.951+25del (n.951+25del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581049C>G | CA2694413143 | COL4A5 | c.936+22C>G (n.936+22C>G) c.612+22C>G (n.612+22C>G) c.951+22C>G (n.951+22C>G) | gnomAD v4 |
X | g.108581049C>T | CA2694413144 | COL4A5 | c.936+22C>T (n.936+22C>T) c.612+22C>T (n.612+22C>T) c.951+22C>T (n.951+22C>T) | gnomAD v4 |
X | g.108581050C= | CA2450683214 | COL4A5 | c.936+23C= (n.936+23C=) c.612+23C= (n.612+23C=) c.951+23C= (n.951+23C=) | |
X | g.108581050C>G | CA2694413145 | COL4A5 | c.936+23C>G (n.936+23C>G) c.612+23C>G (n.612+23C>G) c.951+23C>G (n.951+23C>G) | gnomAD v4 |
X | g.108581050C>T | CA334180739 | COL4A5 | c.936+23C>T (n.936+23C>T) c.612+23C>T (n.612+23C>T) c.951+23C>T (n.951+23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581051C>A | CA2694413146 | COL4A5 | c.936+24C>A (n.936+24C>A) c.612+24C>A (n.612+24C>A) c.951+24C>A (n.951+24C>A) | gnomAD v4 |
X | g.108581051C= | CA2450683215 | COL4A5 | c.936+24C= (n.936+24C=) c.612+24C= (n.612+24C=) c.951+24C= (n.951+24C=) | |
X | g.108581051C>T | CA10488622 | COL4A5 | c.936+24C>T (n.936+24C>T) c.612+24C>T (n.612+24C>T) c.951+24C>T (n.951+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581052C>A | CA2694413148 | COL4A5 | c.936+25C>A (n.936+25C>A) c.612+25C>A (n.612+25C>A) c.951+25C>A (n.951+25C>A) | gnomAD v4 |
X | g.108581052C>T | CA2694413147 | COL4A5 | c.936+25C>T (n.936+25C>T) c.612+25C>T (n.612+25C>T) c.951+25C>T (n.951+25C>T) | dbSNP gnomAD v4 |
X | g.108581053T>C | CA2694413149 | COL4A5 | c.936+26T>C (n.936+26T>C) c.612+26T>C (n.612+26T>C) c.951+26T>C (n.951+26T>C) | gnomAD v4 |
X | g.108581054G>A | CA2694413150 | COL4A5 | c.936+27G>A (n.936+27G>A) c.612+27G>A (n.612+27G>A) c.951+27G>A (n.951+27G>A) | gnomAD v4 |
X | g.108581055C>A | CA334180743 | COL4A5 | c.936+28C>A (n.936+28C>A) c.612+28C>A (n.612+28C>A) c.951+28C>A (n.951+28C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581055C= | CA2450683216 | COL4A5 | c.936+28C= (n.936+28C=) c.612+28C= (n.612+28C=) c.951+28C= (n.951+28C=) | |
X | g.108581057A= | CA2450683217 | COL4A5 | c.936+30A= (n.936+30A=) c.612+30A= (n.612+30A=) c.951+30A= (n.951+30A=) | |
X | g.108581057A>C | CA1136179866 | COL4A5 | c.936+30A>C (n.936+30A>C) c.612+30A>C (n.612+30A>C) c.951+30A>C (n.951+30A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581057A>T | CA2694413151 | COL4A5 | c.936+30A>T (n.936+30A>T) c.612+30A>T (n.612+30A>T) c.951+30A>T (n.951+30A>T) | gnomAD v4 |
X | g.108581059A>G | CA2694413152 | COL4A5 | c.936+32A>G (n.936+32A>G) c.612+32A>G (n.612+32A>G) c.951+32A>G (n.951+32A>G) | gnomAD v4 |
X | g.108581060C>A | CA2694413153 | COL4A5 | c.936+33C>A (n.936+33C>A) c.612+33C>A (n.612+33C>A) c.951+33C>A (n.951+33C>A) | gnomAD v4 |
X | g.108581061T>C | CA2694413154 | COL4A5 | c.936+34T>C (n.936+34T>C) c.612+34T>C (n.612+34T>C) c.951+34T>C (n.951+34T>C) | gnomAD v4 |
X | g.108581063_108581076del | CA2579676007 | COL4A5 | c.936+36_936+49del (n.936+36_936+49del) c.612+36_612+49del (n.612+36_612+49del) c.951+36_951+49del (n.951+36_951+49del) | |
X | g.108581062G>A | CA2694413155 | COL4A5 | c.936+35G>A (n.936+35G>A) c.612+35G>A (n.612+35G>A) c.951+35G>A (n.951+35G>A) | gnomAD v4 |
X | g.108581064A= | CA2450683218 | COL4A5 | c.936+37A= (n.936+37A=) c.612+37A= (n.612+37A=) c.951+37A= (n.951+37A=) | |
X | g.108581064A>G | CA1136179869 | COL4A5 | c.936+37A>G (n.936+37A>G) c.612+37A>G (n.612+37A>G) c.951+37A>G (n.951+37A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581064A>T | CA2694413156 | COL4A5 | c.936+37A>T (n.936+37A>T) c.612+37A>T (n.612+37A>T) c.951+37A>T (n.951+37A>T) | gnomAD v4 |
X | g.108581066A>G | CA2694413157 | COL4A5 | c.936+39A>G (n.936+39A>G) c.612+39A>G (n.612+39A>G) c.951+39A>G (n.951+39A>G) | gnomAD v4 |
X | g.108581066A>T | CA2694413158 | COL4A5 | c.936+39A>T (n.936+39A>T) c.612+39A>T (n.612+39A>T) c.951+39A>T (n.951+39A>T) | gnomAD v4 |
X | g.108581067C>A | CA2694413159 | COL4A5 | c.936+40C>A (n.936+40C>A) c.612+40C>A (n.612+40C>A) c.951+40C>A (n.951+40C>A) | gnomAD v4 |
X | g.108581067C>T | CA2694413160 | COL4A5 | c.936+40C>T (n.936+40C>T) c.612+40C>T (n.612+40C>T) c.951+40C>T (n.951+40C>T) | gnomAD v4 |
X | g.108581069T>C | CA2694413161 | COL4A5 | c.936+42T>C (n.936+42T>C) c.612+42T>C (n.612+42T>C) c.951+42T>C (n.951+42T>C) | gnomAD v4 |
X | g.108581069T>G | CA10488623 | COL4A5 | c.936+42T>G (n.936+42T>G) c.612+42T>G (n.612+42T>G) c.951+42T>G (n.951+42T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108581069T= | CA2450683219 | COL4A5 | c.936+42T= (n.936+42T=) c.612+42T= (n.612+42T=) c.951+42T= (n.951+42T=) | |
X | g.108581071del | CA2579676008 | COL4A5 | c.936+44del (n.936+44del) c.612+44del (n.612+44del) c.951+44del (n.951+44del) | |
X | g.108581070T>C | CA2694413162 | COL4A5 | c.936+43T>C (n.936+43T>C) c.612+43T>C (n.612+43T>C) c.951+43T>C (n.951+43T>C) | gnomAD v4 |
X | g.108581071T>C | CA2694413163 | COL4A5 | c.936+44T>C (n.936+44T>C) c.612+44T>C (n.612+44T>C) c.951+44T>C (n.951+44T>C) | gnomAD v4 |
X | g.108581073T>C | CA2694413164 | COL4A5 | c.936+46T>C (n.936+46T>C) c.612+46T>C (n.612+46T>C) c.951+46T>C (n.951+46T>C) | gnomAD v4 |
X | g.108581074G>A | CA2694413165 | COL4A5 | c.936+47G>A (n.936+47G>A) c.612+47G>A (n.612+47G>A) c.951+47G>A (n.951+47G>A) | gnomAD v4 |
X | g.108581075T>C | CA2694413166 | COL4A5 | c.936+48T>C (n.936+48T>C) c.612+48T>C (n.612+48T>C) c.951+48T>C (n.951+48T>C) | gnomAD v4 |
X | g.108581076G= | CA2450683220 | COL4A5 | c.936+49G= (n.936+49G=) c.612+49G= (n.612+49G=) c.951+49G= (n.951+49G=) | |
X | g.108581076G>T | CA2450683221 | COL4A5 | c.936+49G>T (n.936+49G>T) c.612+49G>T (n.612+49G>T) c.951+49G>T (n.951+49G>T) | dbSNP |
X | g.108581078T>C | CA2515605869 | COL4A5 | c.936+51T>C (n.936+51T>C) c.612+51T>C (n.612+51T>C) c.951+51T>C (n.951+51T>C) | |
X | g.108581079G>A | CA2579676009 | COL4A5 | c.936+52G>A (n.936+52G>A) c.612+52G>A (n.612+52G>A) c.951+52G>A (n.951+52G>A) | |
X | g.108581080G>A | CA869794429 | COL4A5 | c.936+53G>A (n.936+53G>A) c.612+53G>A (n.612+53G>A) c.951+53G>A (n.951+53G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581080G>C | CA2450683223 | COL4A5 | c.936+53G>C (n.936+53G>C) c.612+53G>C (n.612+53G>C) c.951+53G>C (n.951+53G>C) | dbSNP gnomAD v4 |
X | g.108581080G= | CA2450683222 | COL4A5 | c.936+53G= (n.936+53G=) c.612+53G= (n.612+53G=) c.951+53G= (n.951+53G=) | |
X | g.108581080G>T | CA2694413167 | COL4A5 | c.936+53G>T (n.936+53G>T) c.612+53G>T (n.612+53G>T) c.951+53G>T (n.951+53G>T) | gnomAD v4 |
X | g.108581081_108581091del | CA2822895182 | COL4A5 | c.936+54_936+64del (n.936+54_936+64del) c.612+54_612+64del (n.612+54_612+64del) c.951+54_951+64del (n.951+54_951+64del) | |
X | g.108581080_108581081insGTGTGTT | CA2822895189 | COL4A5 | c.936+53_936+54insGTGTGTT (n.936+53_936+54insGTGTGTT) c.612+53_612+54insGTGTGTT (n.612+53_612+54insGTGTGTT) c.951+53_951+54insGTGTGTT (n.951+53_951+54insGTGTGTT) | |
X | g.108581080_108581081insGTGTGTTTGGT | CA2822895194 | COL4A5 | c.936+53_936+54insGTGTGTTTGGT (n.936+53_936+54insGTGTGTTTGGT) c.612+53_612+54insGTGTGTTTGGT (n.612+53_612+54insGTGTGTTTGGT) c.951+53_951+54insGTGTGTTTGGT (n.951+53_951+54insGTGTGTTTGGT) | |
X | g.108581081T>A | CA2450683225 | COL4A5 | c.936+54T>A (n.936+54T>A) c.612+54T>A (n.612+54T>A) c.951+54T>A (n.951+54T>A) | dbSNP gnomAD v4 |
X | g.108581081T>C | CA2694413168 | COL4A5 | c.936+54T>C (n.936+54T>C) c.612+54T>C (n.612+54T>C) c.951+54T>C (n.951+54T>C) | gnomAD v4 |
X | g.108581081T>G | CA2579676010 | COL4A5 | c.936+54T>G (n.936+54T>G) c.612+54T>G (n.612+54T>G) c.951+54T>G (n.951+54T>G) | gnomAD v4 |
X | g.108581081T= | CA2450683224 | COL4A5 | c.936+54T= (n.936+54T=) c.612+54T= (n.612+54T=) c.951+54T= (n.951+54T=) | |
X | g.108581082A= | CA2450683226 | COL4A5 | c.936+55A= (n.936+55A=) c.612+55A= (n.612+55A=) c.951+55A= (n.951+55A=) | |
X | g.108581082A>G | CA334180746 | COL4A5 | c.936+55A>G (n.936+55A>G) c.612+55A>G (n.612+55A>G) c.951+55A>G (n.951+55A>G) | dbSNP gnomAD v4 |
X | g.108581083_108581084delinsTA | CA2450683227 | COL4A5 | c.936+56_936+57delinsTA (n.936+56_936+57delinsTA) c.612+56_612+57delinsTA (n.612+56_612+57delinsTA) c.951+56_951+57delinsTA (n.951+56_951+57delinsTA) | |
X | g.108581084A>G | CA2822895197 | COL4A5 | c.936+57A>G (n.936+57A>G) c.612+57A>G (n.612+57A>G) c.951+57A>G (n.951+57A>G) | |
X | g.108581085del | CA1136179871 | COL4A5 | c.936+58del (n.936+58del) c.612+58del (n.612+58del) c.951+58del (n.951+58del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581085A>G | CA2694413169 | COL4A5 | c.936+58A>G (n.936+58A>G) c.612+58A>G (n.612+58A>G) c.951+58A>G (n.951+58A>G) | gnomAD v4 |
X | g.108581086C>A | CA2694413170 | COL4A5 | c.936+59C>A (n.936+59C>A) c.612+59C>A (n.612+59C>A) c.951+59C>A (n.951+59C>A) | gnomAD v4 |
X | g.108581086C= | CA2450683228 | COL4A5 | c.936+59C= (n.936+59C=) c.612+59C= (n.612+59C=) c.951+59C= (n.951+59C=) | |
X | g.108581086C>T | CA334180748 | COL4A5 | c.936+59C>T (n.936+59C>T) c.612+59C>T (n.612+59C>T) c.951+59C>T (n.951+59C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581086_108581088delinsCAT | CA2450683229 | COL4A5 | c.936+59_936+61delinsCAT (n.936+59_936+61delinsCAT) c.612+59_612+61delinsCAT (n.612+59_612+61delinsCAT) c.951+59_951+61delinsCAT (n.951+59_951+61delinsCAT) | |
X | g.108581087A= | CA2450683231 | COL4A5 | c.936+60A= (n.936+60A=) c.612+60A= (n.612+60A=) c.951+60A= (n.951+60A=) | |
X | g.108581087A>G | CA334180750 | COL4A5 | c.936+60A>G (n.936+60A>G) c.612+60A>G (n.612+60A>G) c.951+60A>G (n.951+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581087A>T | CA2450683232 | COL4A5 | c.936+60A>T (n.936+60A>T) c.612+60A>T (n.612+60A>T) c.951+60A>T (n.951+60A>T) | dbSNP gnomAD v4 |
X | g.108581088_108581089del | CA2450683230 | COL4A5 | c.936+61_936+62del (n.936+61_936+62del) c.612+61_612+62del (n.612+61_612+62del) c.951+61_951+62del (n.951+61_951+62del) | dbSNP |
X | g.108581088T>A | CA2450683234 | COL4A5 | c.936+61T>A (n.936+61T>A) c.612+61T>A (n.612+61T>A) c.951+61T>A (n.951+61T>A) | dbSNP gnomAD v4 |
X | g.108581088T= | CA2450683233 | COL4A5 | c.936+61T= (n.936+61T=) c.612+61T= (n.612+61T=) c.951+61T= (n.951+61T=) | |
X | g.108581089A= | CA2450683235 | COL4A5 | c.936+62A= (n.936+62A=) c.612+62A= (n.612+62A=) c.951+62A= (n.951+62A=) | |
X | g.108581089A>T | CA2450683236 | COL4A5 | c.936+62A>T (n.936+62A>T) c.612+62A>T (n.612+62A>T) c.951+62A>T (n.951+62A>T) | dbSNP |
X | g.108581090A>C | CA2579676011 | COL4A5 | c.936+63A>C (n.936+63A>C) c.612+63A>C (n.612+63A>C) c.951+63A>C (n.951+63A>C) | |
X | g.108581091G>A | CA334180752 | COL4A5 | c.936+64G>A (n.936+64G>A) c.612+64G>A (n.612+64G>A) c.951+64G>A (n.951+64G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581091G= | CA2450683237 | COL4A5 | c.936+64G= (n.936+64G=) c.612+64G= (n.612+64G=) c.951+64G= (n.951+64G=) | |
X | g.108581092G>C | CA643750300 | COL4A5 | c.936+65G>C (n.936+65G>C) c.612+65G>C (n.612+65G>C) c.951+65G>C (n.951+65G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108581092G= | CA2450683238 | COL4A5 | c.936+65G= (n.936+65G=) c.612+65G= (n.612+65G=) c.951+65G= (n.951+65G=) | |
X | g.108581092G>T | CA2450683239 | COL4A5 | c.936+65G>T (n.936+65G>T) c.612+65G>T (n.612+65G>T) c.951+65G>T (n.951+65G>T) | dbSNP gnomAD v4 |
X | g.108581093T>C | CA2842479038 | COL4A5 | c.936+66T>C (n.936+66T>C) c.612+66T>C (n.612+66T>C) c.951+66T>C (n.951+66T>C) | |
X | g.108581094G>A | CA334180754 | COL4A5 | c.936+67G>A (n.936+67G>A) c.612+67G>A (n.612+67G>A) c.951+67G>A (n.951+67G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108581094G= | CA2450683240 | COL4A5 | c.936+67G= (n.936+67G=) c.612+67G= (n.612+67G=) c.951+67G= (n.951+67G=) | |
X | g.108581095del | CA2579676012 | COL4A5 | c.936+68del (n.936+68del) c.612+68del (n.612+68del) c.951+68del (n.951+68del) | |
X | g.108581095_108581118del | CA2822895206 | COL4A5 | c.936+68_936+91del (n.936+68_936+91del) c.612+68_612+91del (n.612+68_612+91del) c.951+68_951+91del (n.951+68_951+91del) | |
X | g.108581096C>A | CA2579676013 | COL4A5 | c.936+69C>A (n.936+69C>A) c.612+69C>A (n.612+69C>A) c.951+69C>A (n.951+69C>A) | |
X | g.108581096C>T | CA2694413171 | COL4A5 | c.936+69C>T (n.936+69C>T) c.612+69C>T (n.612+69C>T) c.951+69C>T (n.951+69C>T) | gnomAD v4 |
X | g.108581097A>G | CA2694413172 | COL4A5 | c.936+70A>G (n.936+70A>G) c.612+70A>G (n.612+70A>G) c.951+70A>G (n.951+70A>G) | gnomAD v4 |
X | g.108581101A>G | CA2579676014 | COL4A5 | c.936+74A>G (n.936+74A>G) c.612+74A>G (n.612+74A>G) c.951+74A>G (n.951+74A>G) | gnomAD v4 |
X | g.108581102A>G | CA2822895207 | COL4A5 | c.936+75A>G (n.936+75A>G) c.612+75A>G (n.612+75A>G) c.951+75A>G (n.951+75A>G) |