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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108622666T>C | CA10488986 | COL4A5 | c.2768-10T>C (n.2768-10T>C) n.2224-10T>C c.2444-10T>C (n.2444-10T>C) c.341-10T>C (n.341-10T>C) c.2783-10T>C (n.2783-10T>C) c.1103-10T>C (n.1103-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622666T= | CA2450696850 | COL4A5 | c.2768-10T= (n.2768-10T=) n.2224-10T= c.2444-10T= (n.2444-10T=) c.341-10T= (n.341-10T=) c.2783-10T= (n.2783-10T=) c.1103-10T= (n.1103-10T=) | |
| X | g.108622668G>T | CA2694440253 | COL4A5 | c.2768-8G>T (n.2768-8G>T) n.2224-8G>T c.2444-8G>T (n.2444-8G>T) c.341-8G>T (n.341-8G>T) c.2783-8G>T (n.2783-8G>T) c.1103-8G>T (n.1103-8G>T) | gnomAD v4 |
| X | g.108622673del | CA2579676575 | COL4A5 | c.2768-3del (n.2768-3del) n.2224-3del c.2444-3del (n.2444-3del) c.341-3del (n.341-3del) c.2783-3del (n.2783-3del) c.1103-3del (n.1103-3del) | |
| X | g.108622674A>C | CA413852442 | COL4A5 | c.2768-2A>C (n.2768-2A>C) n.2224-2A>C c.2444-2A>C (n.2444-2A>C) c.341-2A>C (n.341-2A>C) c.2783-2A>C (n.2783-2A>C) c.1103-2A>C (n.1103-2A>C) | |
| X | g.108622674A>G | CA413852443 | COL4A5 | c.2768-2A>G (n.2768-2A>G) n.2224-2A>G c.2444-2A>G (n.2444-2A>G) c.341-2A>G (n.341-2A>G) c.2783-2A>G (n.2783-2A>G) c.1103-2A>G (n.1103-2A>G) | |
| X | g.108622674A>T | CA413852444 | COL4A5 | c.2768-2A>T (n.2768-2A>T) n.2224-2A>T c.2444-2A>T (n.2444-2A>T) c.341-2A>T (n.341-2A>T) c.2783-2A>T (n.2783-2A>T) c.1103-2A>T (n.1103-2A>T) | |
| X | g.108622675G>A | CA413852447 | COL4A5 | c.2768-1G>A (n.2768-1G>A) n.2224-1G>A c.2444-1G>A (n.2444-1G>A) c.341-1G>A (n.341-1G>A) c.2783-1G>A (n.2783-1G>A) c.1103-1G>A (n.1103-1G>A) | |
| X | g.108622675G>C | CA413852462 | COL4A5 | c.2768-1G>C (n.2768-1G>C) n.2224-1G>C c.2444-1G>C (n.2444-1G>C) c.341-1G>C (n.341-1G>C) c.2783-1G>C (n.2783-1G>C) c.1103-1G>C (n.1103-1G>C) | |
| X | g.108622675G>T | CA413852465 | COL4A5 | c.2768-1G>T (n.2768-1G>T) n.2224-1G>T c.2444-1G>T (n.2444-1G>T) c.341-1G>T (n.341-1G>T) c.2783-1G>T (n.2783-1G>T) c.1103-1G>T (n.1103-1G>T) | |
| X | g.108622676G>A | CA413852467 | COL4A5 | c.2768G>A (p.Gly923Asp) n.2224G>A c.1G>A c.2444G>A (p.Gly815Asp) c.341G>A (p.Gly114Asp) c.2783G>A (p.Gly928Asp) c.1103G>A (p.Gly368Asp) | |
| X | g.108622676G>C | CA413852471 | COL4A5 | c.2768G>C (p.Gly923Ala) n.2224G>C c.1G>C c.2444G>C (p.Gly815Ala) c.341G>C (p.Gly114Ala) c.2783G>C (p.Gly928Ala) c.1103G>C (p.Gly368Ala) | |
| X | g.108622676G>T | CA413852469 | COL4A5 | c.2768G>T (p.Gly923Val) n.2224G>T c.1G>T c.2444G>T (p.Gly815Val) c.341G>T (p.Gly114Val) c.2783G>T (p.Gly928Val) c.1103G>T (p.Gly368Val) | |
| X | g.108622677T>A | CA517924700 | COL4A5 | c.2769T>A (p.Gly923=) n.2225T>A c.2T>A c.2445T>A (p.Gly815=) c.342T>A (p.Gly114=) c.2784T>A (p.Gly928=) c.1104T>A (p.Gly368=) | |
| X | g.108622677T>C | CA517924701 | COL4A5 | c.2769T>C (p.Gly923=) n.2225T>C c.2T>C c.2445T>C (p.Gly815=) c.342T>C (p.Gly114=) c.2784T>C (p.Gly928=) c.1104T>C (p.Gly368=) | ClinVar |
| X | g.108622677T>G | CA517924702 | COL4A5 | c.2769T>G (p.Gly923=) n.2225T>G c.2T>G c.2445T>G (p.Gly815=) c.342T>G (p.Gly114=) c.2784T>G (p.Gly928=) c.1104T>G (p.Gly368=) | |
| X | g.108622678G>A | CA413852473 | COL4A5 | c.2770G>A (p.Asp924Asn) n.2226G>A c.3G>A c.2446G>A (p.Asp816Asn) c.343G>A (p.Asp115Asn) c.2785G>A (p.Asp929Asn) c.1105G>A (p.Asp369Asn) | |
| X | g.108622678G>C | CA413852476 | COL4A5 | c.2770G>C (p.Asp924His) n.2226G>C c.3G>C c.2446G>C (p.Asp816His) c.343G>C (p.Asp115His) c.2785G>C (p.Asp929His) c.1105G>C (p.Asp369His) | |
| X | g.108622678G>T | CA413852479 | COL4A5 | c.2770G>T (p.Asp924Tyr) n.2226G>T c.3G>T c.2446G>T (p.Asp816Tyr) c.343G>T (p.Asp115Tyr) c.2785G>T (p.Asp929Tyr) c.1105G>T (p.Asp369Tyr) | |
| X | g.108622679A>C | CA413852488 | COL4A5 | c.2771A>C (p.Asp924Ala) n.2227A>C c.4A>C c.2447A>C (p.Asp816Ala) c.344A>C (p.Asp115Ala) c.2786A>C (p.Asp929Ala) c.1106A>C (p.Asp369Ala) | |
| X | g.108622679A>G | CA413852489 | COL4A5 | c.2771A>G (p.Asp924Gly) n.2227A>G c.4A>G c.2447A>G (p.Asp816Gly) c.344A>G (p.Asp115Gly) c.2786A>G (p.Asp929Gly) c.1106A>G (p.Asp369Gly) | |
| X | g.108622679A>T | CA413852490 | COL4A5 | c.2771A>T (p.Asp924Val) n.2227A>T c.4A>T c.2447A>T (p.Asp816Val) c.344A>T (p.Asp115Val) c.2786A>T (p.Asp929Val) c.1106A>T (p.Asp369Val) | |
| X | g.108622680T>A | CA413852491 | COL4A5 | c.2772T>A (p.Asp924Glu) n.2228T>A c.5T>A c.2448T>A (p.Asp816Glu) c.345T>A (p.Asp115Glu) c.2787T>A (p.Asp929Glu) c.1107T>A (p.Asp369Glu) | |
| X | g.108622680T>C | CA517924708 | COL4A5 | c.2772T>C (p.Asp924=) n.2228T>C c.5T>C c.2448T>C (p.Asp816=) c.345T>C (p.Asp115=) c.2787T>C (p.Asp929=) c.1107T>C (p.Asp369=) | |
| X | g.108622680T>G | CA413852492 | COL4A5 | c.2772T>G (p.Asp924Glu) n.2228T>G c.5T>G c.2448T>G (p.Asp816Glu) c.345T>G (p.Asp115Glu) c.2787T>G (p.Asp929Glu) c.1107T>G (p.Asp369Glu) | |
| X | g.108622681G>A | CA413852495 | COL4A5 | c.2773G>A (p.Asp925Asn) n.2229G>A c.6G>A c.2449G>A (p.Asp817Asn) c.346G>A (p.Asp116Asn) c.2788G>A (p.Asp930Asn) c.1108G>A (p.Asp370Asn) | gnomAD v4 COSMIC |
| X | g.108622681G>C | CA413852498 | COL4A5 | c.2773G>C (p.Asp925His) n.2229G>C c.6G>C c.2449G>C (p.Asp817His) c.346G>C (p.Asp116His) c.2788G>C (p.Asp930His) c.1108G>C (p.Asp370His) | |
| X | g.108622681G>T | CA413852507 | COL4A5 | c.2773G>T (p.Asp925Tyr) n.2229G>T c.6G>T c.2449G>T (p.Asp817Tyr) c.346G>T (p.Asp116Tyr) c.2788G>T (p.Asp930Tyr) c.1108G>T (p.Asp370Tyr) | ClinVar |
| X | g.108622682A>C | CA413852509 | COL4A5 | c.2774A>C (p.Asp925Ala) n.2230A>C c.7A>C c.2450A>C (p.Asp817Ala) c.347A>C (p.Asp116Ala) c.2789A>C (p.Asp930Ala) c.1109A>C (p.Asp370Ala) | |
| X | g.108622682A>G | CA413852510 | COL4A5 | c.2774A>G (p.Asp925Gly) n.2230A>G c.7A>G c.2450A>G (p.Asp817Gly) c.347A>G (p.Asp116Gly) c.2789A>G (p.Asp930Gly) c.1109A>G (p.Asp370Gly) | |
| X | g.108622682A>T | CA413852513 | COL4A5 | c.2774A>T (p.Asp925Val) n.2230A>T c.7A>T c.2450A>T (p.Asp817Val) c.347A>T (p.Asp116Val) c.2789A>T (p.Asp930Val) c.1109A>T (p.Asp370Val) | |
| X | g.108622683T>A | CA413852517 | COL4A5 | c.2775T>A (p.Asp925Glu) n.2231T>A c.8T>A c.2451T>A (p.Asp817Glu) c.348T>A (p.Asp116Glu) c.2790T>A (p.Asp930Glu) c.1110T>A (p.Asp370Glu) | |
| X | g.108622683T>C | CA517924712 | COL4A5 | c.2775T>C (p.Asp925=) n.2231T>C c.8T>C c.2451T>C (p.Asp817=) c.348T>C (p.Asp116=) c.2790T>C (p.Asp930=) c.1110T>C (p.Asp370=) | gnomAD v4 |
| X | g.108622683T>G | CA413852520 | COL4A5 | c.2775T>G (p.Asp925Glu) n.2231T>G c.8T>G c.2451T>G (p.Asp817Glu) c.348T>G (p.Asp116Glu) c.2790T>G (p.Asp930Glu) c.1110T>G (p.Asp370Glu) | |
| X | g.108622685_108622689del | CA2739290540 | COL4A5 | c.2777_2781del (p.Gly926AlafsTer15) n.2233_2237del c.10_14del c.2453_2457del (p.Gly818AlafsTer15) c.350_354del (p.Gly117AlafsTer15) c.2792_2796del (p.Gly931AlafsTer15) c.1112_1116del (p.Gly371AlafsTer15) | |
| X | g.108622684G>A | CA413852525 | COL4A5 | c.2776G>A (p.Gly926Ser) n.2232G>A c.9G>A c.2452G>A (p.Gly818Ser) c.349G>A (p.Gly117Ser) c.2791G>A (p.Gly931Ser) c.1111G>A (p.Gly371Ser) | |
| X | g.108622684G>C | CA413852528 | COL4A5 | c.2776G>C (p.Gly926Arg) n.2232G>C c.9G>C c.2452G>C (p.Gly818Arg) c.349G>C (p.Gly117Arg) c.2791G>C (p.Gly931Arg) c.1111G>C (p.Gly371Arg) | |
| X | g.108622684G>T | CA413852531 | COL4A5 | c.2776G>T (p.Gly926Cys) n.2232G>T c.9G>T c.2452G>T (p.Gly818Cys) c.349G>T (p.Gly117Cys) c.2791G>T (p.Gly931Cys) c.1111G>T (p.Gly371Cys) | |
| X | g.108622685G>A | CA413852535 | COL4A5 | c.2777G>A (p.Gly926Asp) n.2233G>A c.10G>A c.2453G>A (p.Gly818Asp) c.350G>A (p.Gly117Asp) c.2792G>A (p.Gly931Asp) c.1112G>A (p.Gly371Asp) | |
| X | g.108622685G>C | CA413852538 | COL4A5 | c.2777G>C (p.Gly926Ala) n.2233G>C c.10G>C c.2453G>C (p.Gly818Ala) c.350G>C (p.Gly117Ala) c.2792G>C (p.Gly931Ala) c.1112G>C (p.Gly371Ala) | |
| X | g.108622685G>T | CA413852540 | COL4A5 | c.2777G>T (p.Gly926Val) n.2233G>T c.10G>T c.2453G>T (p.Gly818Val) c.350G>T (p.Gly117Val) c.2792G>T (p.Gly931Val) c.1112G>T (p.Gly371Val) | ClinVar dbSNP |
| X | g.108622686C>A | CA517924717 | COL4A5 | c.2778C>A (p.Gly926=) n.2234C>A c.11C>A c.2454C>A (p.Gly818=) c.351C>A (p.Gly117=) c.2793C>A (p.Gly931=) c.1113C>A (p.Gly371=) | |
| X | g.108622686C= | CA2450696851 | COL4A5 | c.2778C= (p.Gly926=) n.2234C= c.11C= c.2454C= (p.Gly818=) c.351C= (p.Gly117=) c.2793C= (p.Gly931=) c.1113C= (p.Gly371=) | |
| X | g.108622686C>G | CA517924714 | COL4A5 | c.2778C>G (p.Gly926=) n.2234C>G c.11C>G c.2454C>G (p.Gly818=) c.351C>G (p.Gly117=) c.2793C>G (p.Gly931=) c.1113C>G (p.Gly371=) | |
| X | g.108622686C>T | CA10488987 | COL4A5 | c.2778C>T (p.Gly926=) n.2234C>T c.11C>T c.2454C>T (p.Gly818=) c.351C>T (p.Gly117=) c.2793C>T (p.Gly931=) c.1113C>T (p.Gly371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108622687T>A | CA413852543 | COL4A5 | c.2779T>A (p.Leu927Met) n.2235T>A c.12T>A c.2455T>A (p.Leu819Met) c.352T>A (p.Leu118Met) c.2794T>A (p.Leu932Met) c.1114T>A (p.Leu372Met) | |
| X | g.108622687T>C | CA517924718 | COL4A5 | c.2779T>C (p.Leu927=) n.2235T>C c.12T>C c.2455T>C (p.Leu819=) c.352T>C (p.Leu118=) c.2794T>C (p.Leu932=) c.1114T>C (p.Leu372=) | |
| X | g.108622687T>G | CA413852544 | COL4A5 | c.2779T>G (p.Leu927Val) n.2235T>G c.12T>G c.2455T>G (p.Leu819Val) c.352T>G (p.Leu118Val) c.2794T>G (p.Leu932Val) c.1114T>G (p.Leu372Val) | |
| X | g.108622688del | CA2825002921 | COL4A5 | c.2780del (p.Leu927CysfsTer?) n.2236del c.13del c.2456del (p.Leu819CysfsTer?) c.353del (p.Leu118CysfsTer?) c.2795del (p.Leu932CysfsTer?) c.1115del (p.Leu372CysfsTer?) | ClinVar |
| X | g.108622688T>A | CA413852546 | COL4A5 | c.2780T>A (p.Leu927Ter) n.2236T>A c.13T>A c.2456T>A (p.Leu819Ter) c.353T>A (p.Leu118Ter) c.2795T>A (p.Leu932Ter) c.1115T>A (p.Leu372Ter) |