| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108581019G>A | CA258359 | COL4A5 | c.928G>A (p.Gly310Arg) c.604G>A (p.Gly202Arg) c.943G>A (p.Gly315Arg) | 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.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) | |
| 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 |