UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129465168C>A | CA451926406 | LAMA2 | c.7179C>A (p.Leu2393=) c.7443C>A (p.Leu2481=) n.810C>A n.518C>A c.7176C>A (p.Leu2392=) c.7437C>A (p.Leu2479=) c.7449C>A (p.Leu2483=) c.5574C>A (p.Leu1858=) | |
| 6 | g.129465168C>G | CA451926405 | LAMA2 | c.7179C>G (p.Leu2393=) c.7443C>G (p.Leu2481=) n.810C>G n.518C>G c.7176C>G (p.Leu2392=) c.7437C>G (p.Leu2479=) c.7449C>G (p.Leu2483=) c.5574C>G (p.Leu1858=) | ClinVar dbSNP |
| 6 | g.129465168C>T | CA451926404 | LAMA2 | c.7179C>T (p.Leu2393=) c.7443C>T (p.Leu2481=) n.810C>T n.518C>T c.7176C>T (p.Leu2392=) c.7437C>T (p.Leu2479=) c.7449C>T (p.Leu2483=) c.5574C>T (p.Leu1858=) | |
| 6 | g.129465169A= | CA1663192594 | LAMA2 | c.7180A= (p.Thr2394=) c.7444A= (p.Thr2482=) n.811A= n.519A= c.7177A= (p.Thr2393=) c.7438A= (p.Thr2480=) c.7450A= (p.Thr2484=) c.5575A= (p.Thr1859=) | |
| 6 | g.129465169A>C | CA365621429 | LAMA2 | c.7180A>C (p.Thr2394Pro) c.7444A>C (p.Thr2482Pro) n.811A>C n.519A>C c.7177A>C (p.Thr2393Pro) c.7438A>C (p.Thr2480Pro) c.7450A>C (p.Thr2484Pro) c.5575A>C (p.Thr1859Pro) | |
| 6 | g.129465169A>G | CA3994478 | LAMA2 | c.7180A>G (p.Thr2394Ala) c.7444A>G (p.Thr2482Ala) n.811A>G n.519A>G c.7177A>G (p.Thr2393Ala) c.7438A>G (p.Thr2480Ala) c.7450A>G (p.Thr2484Ala) c.5575A>G (p.Thr1859Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465169A>T | CA365621430 | LAMA2 | c.7180A>T (p.Thr2394Ser) c.7444A>T (p.Thr2482Ser) n.811A>T n.519A>T c.7177A>T (p.Thr2393Ser) c.7438A>T (p.Thr2480Ser) c.7450A>T (p.Thr2484Ser) c.5575A>T (p.Thr1859Ser) | |
| 6 | g.129465169_129465170delinsAC | CA1663192595 | LAMA2 | c.7180_7181delinsAC (p.Thr2394=) c.7444_7445delinsAC (p.Thr2482=) n.811_812delinsAC n.519_520delinsAC c.7177_7178delinsAC (p.Thr2393=) c.7438_7439delinsAC (p.Thr2480=) c.7450_7451delinsAC (p.Thr2484=) c.5575_5576delinsAC (p.Thr1859=) | |
| 6 | g.129465170del | CA915943633 | LAMA2 | c.7181del (p.Thr2394MetfsTer5) c.7445del (p.Thr2482MetfsTer5) n.812del n.520del c.7178del (p.Thr2393MetfsTer5) c.7439del (p.Thr2480MetfsTer5) c.7451del (p.Thr2484MetfsTer5) c.5576del (p.Thr1859MetfsTer5) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465170C>A | CA365621431 | LAMA2 | c.7181C>A (p.Thr2394Asn) c.7445C>A (p.Thr2482Asn) n.812C>A n.520C>A c.7178C>A (p.Thr2393Asn) c.7439C>A (p.Thr2480Asn) c.7451C>A (p.Thr2484Asn) c.5576C>A (p.Thr1859Asn) | COSMIC |
| 6 | g.129465170C>G | CA365621436 | LAMA2 | c.7181C>G (p.Thr2394Ser) c.7445C>G (p.Thr2482Ser) n.812C>G n.520C>G c.7178C>G (p.Thr2393Ser) c.7439C>G (p.Thr2480Ser) c.7451C>G (p.Thr2484Ser) c.5576C>G (p.Thr1859Ser) | |
| 6 | g.129465170C>T | CA365621433 | LAMA2 | c.7181C>T (p.Thr2394Ile) c.7445C>T (p.Thr2482Ile) n.812C>T n.520C>T c.7178C>T (p.Thr2393Ile) c.7439C>T (p.Thr2480Ile) c.7451C>T (p.Thr2484Ile) c.5576C>T (p.Thr1859Ile) | gnomAD v4 |
| 6 | g.129465171T>A | CA451926408 | LAMA2 | c.7182T>A (p.Thr2394=) c.7446T>A (p.Thr2482=) n.813T>A n.521T>A c.7179T>A (p.Thr2393=) c.7440T>A (p.Thr2480=) c.7452T>A (p.Thr2484=) c.5577T>A (p.Thr1859=) | |
| 6 | g.129465171T>C | CA451926409 | LAMA2 | c.7182T>C (p.Thr2394=) c.7446T>C (p.Thr2482=) n.813T>C n.521T>C c.7179T>C (p.Thr2393=) c.7440T>C (p.Thr2480=) c.7452T>C (p.Thr2484=) c.5577T>C (p.Thr1859=) | |
| 6 | g.129465171T>G | CA451926410 | LAMA2 | c.7182T>G (p.Thr2394=) c.7446T>G (p.Thr2482=) n.813T>G n.521T>G c.7179T>G (p.Thr2393=) c.7440T>G (p.Thr2480=) c.7452T>G (p.Thr2484=) c.5577T>G (p.Thr1859=) | dbSNP |
| 6 | g.129465171T= | CA1663192600 | LAMA2 | c.7182T= (p.Thr2394=) c.7446T= (p.Thr2482=) n.813T= n.521T= c.7179T= (p.Thr2393=) c.7440T= (p.Thr2480=) c.7452T= (p.Thr2484=) c.5577T= (p.Thr1859=) | |
| 6 | g.129465172G>A | CA365621438 | LAMA2 | c.7183G>A (p.Asp2395Asn) c.7447G>A (p.Asp2483Asn) n.814G>A n.522G>A c.7180G>A (p.Asp2394Asn) c.7441G>A (p.Asp2481Asn) c.7453G>A (p.Asp2485Asn) c.5578G>A (p.Asp1860Asn) | |
| 6 | g.129465172G>C | CA365621442 | LAMA2 | c.7183G>C (p.Asp2395His) c.7447G>C (p.Asp2483His) n.814G>C n.522G>C c.7180G>C (p.Asp2394His) c.7441G>C (p.Asp2481His) c.7453G>C (p.Asp2485His) c.5578G>C (p.Asp1860His) | |
| 6 | g.129465172G>T | CA365621445 | LAMA2 | c.7183G>T (p.Asp2395Tyr) c.7447G>T (p.Asp2483Tyr) n.814G>T n.522G>T c.7180G>T (p.Asp2394Tyr) c.7441G>T (p.Asp2481Tyr) c.7453G>T (p.Asp2485Tyr) c.5578G>T (p.Asp1860Tyr) | |
| 6 | g.129465173A>C | CA365621454 | LAMA2 | c.7184A>C (p.Asp2395Ala) c.7448A>C (p.Asp2483Ala) n.815A>C n.523A>C c.7181A>C (p.Asp2394Ala) c.7442A>C (p.Asp2481Ala) c.7454A>C (p.Asp2485Ala) c.5579A>C (p.Asp1860Ala) | |
| 6 | g.129465173A>G | CA365621457 | LAMA2 | c.7184A>G (p.Asp2395Gly) c.7448A>G (p.Asp2483Gly) n.815A>G n.523A>G c.7181A>G (p.Asp2394Gly) c.7442A>G (p.Asp2481Gly) c.7454A>G (p.Asp2485Gly) c.5579A>G (p.Asp1860Gly) | |
| 6 | g.129465173A>T | CA365621464 | LAMA2 | c.7184A>T (p.Asp2395Val) c.7448A>T (p.Asp2483Val) n.815A>T n.523A>T c.7181A>T (p.Asp2394Val) c.7442A>T (p.Asp2481Val) c.7454A>T (p.Asp2485Val) c.5579A>T (p.Asp1860Val) | |
| 6 | g.129465174T>A | CA365621467 | LAMA2 | c.7185T>A (p.Asp2395Glu) c.7449T>A (p.Asp2483Glu) n.816T>A n.524T>A c.7182T>A (p.Asp2394Glu) c.7443T>A (p.Asp2481Glu) c.7455T>A (p.Asp2485Glu) c.5580T>A (p.Asp1860Glu) | |
| 6 | g.129465174T>C | CA451926413 | LAMA2 | c.7185T>C (p.Asp2395=) c.7449T>C (p.Asp2483=) n.816T>C n.524T>C c.7182T>C (p.Asp2394=) c.7443T>C (p.Asp2481=) c.7455T>C (p.Asp2485=) c.5580T>C (p.Asp1860=) | |
| 6 | g.129465174T>G | CA365621471 | LAMA2 | c.7185T>G (p.Asp2395Glu) c.7449T>G (p.Asp2483Glu) n.816T>G n.524T>G c.7182T>G (p.Asp2394Glu) c.7443T>G (p.Asp2481Glu) c.7455T>G (p.Asp2485Glu) c.5580T>G (p.Asp1860Glu) | |
| 6 | g.129465175G>A | CA365621477 | LAMA2 | c.7186G>A (p.Gly2396Arg) c.7450G>A (p.Gly2484Arg) n.817G>A n.525G>A c.7183G>A (p.Gly2395Arg) c.7444G>A (p.Gly2482Arg) c.7456G>A (p.Gly2486Arg) c.5581G>A (p.Gly1861Arg) | ClinVar dbSNP |
| 6 | g.129465175G>C | CA365621487 | LAMA2 | c.7186G>C (p.Gly2396Arg) c.7450G>C (p.Gly2484Arg) n.817G>C n.525G>C c.7183G>C (p.Gly2395Arg) c.7444G>C (p.Gly2482Arg) c.7456G>C (p.Gly2486Arg) c.5581G>C (p.Gly1861Arg) | |
| 6 | g.129465175G= | CA1663192602 | LAMA2 | c.7186G= (p.Gly2396=) c.7450G= (p.Gly2484=) n.817G= n.525G= c.7183G= (p.Gly2395=) c.7444G= (p.Gly2482=) c.7456G= (p.Gly2486=) c.5581G= (p.Gly1861=) | |
| 6 | g.129465175G>T | CA365621493 | LAMA2 | c.7186G>T (p.Gly2396Trp) c.7450G>T (p.Gly2484Trp) n.817G>T n.525G>T c.7183G>T (p.Gly2395Trp) c.7444G>T (p.Gly2482Trp) c.7456G>T (p.Gly2486Trp) c.5581G>T (p.Gly1861Trp) | |
| 6 | g.129465177del | CA2695206953 | LAMA2 | c.7188del (p.His2397ThrfsTer2) c.7452del (p.His2485ThrfsTer2) n.819del n.527del c.7185del (p.His2396ThrfsTer2) c.7446del (p.His2483ThrfsTer2) c.7458del (p.His2487ThrfsTer2) c.5583del (p.His1862ThrfsTer2) | |
| 6 | g.129465176G>A | CA3994479 | LAMA2 | c.7187G>A (p.Gly2396Glu) c.7451G>A (p.Gly2484Glu) n.818G>A n.526G>A c.7184G>A (p.Gly2395Glu) c.7445G>A (p.Gly2482Glu) c.7457G>A (p.Gly2486Glu) c.5582G>A (p.Gly1861Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465176G>C | CA365621503 | LAMA2 | c.7187G>C (p.Gly2396Ala) c.7451G>C (p.Gly2484Ala) n.818G>C n.526G>C c.7184G>C (p.Gly2395Ala) c.7445G>C (p.Gly2482Ala) c.7457G>C (p.Gly2486Ala) c.5582G>C (p.Gly1861Ala) | |
| 6 | g.129465176G= | CA1663192604 | LAMA2 | c.7187G= (p.Gly2396=) c.7451G= (p.Gly2484=) n.818G= n.526G= c.7184G= (p.Gly2395=) c.7445G= (p.Gly2482=) c.7457G= (p.Gly2486=) c.5582G= (p.Gly1861=) | |
| 6 | g.129465176G>T | CA365621500 | LAMA2 | c.7187G>T (p.Gly2396Val) c.7451G>T (p.Gly2484Val) n.818G>T n.526G>T c.7184G>T (p.Gly2395Val) c.7445G>T (p.Gly2482Val) c.7457G>T (p.Gly2486Val) c.5582G>T (p.Gly1861Val) | dbSNP gnomAD v2 |
| 6 | g.129465177G>A | CA3994480 | LAMA2 | c.7188G>A (p.Gly2396=) c.7452G>A (p.Gly2484=) n.819G>A n.527G>A c.7185G>A (p.Gly2395=) c.7446G>A (p.Gly2482=) c.7458G>A (p.Gly2486=) c.5583G>A (p.Gly1861=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465177G>C | CA451926415 | LAMA2 | c.7188G>C (p.Gly2396=) c.7452G>C (p.Gly2484=) n.819G>C n.527G>C c.7185G>C (p.Gly2395=) c.7446G>C (p.Gly2482=) c.7458G>C (p.Gly2486=) c.5583G>C (p.Gly1861=) | |
| 6 | g.129465177G= | CA1663192606 | LAMA2 | c.7188G= (p.Gly2396=) c.7452G= (p.Gly2484=) n.819G= n.527G= c.7185G= (p.Gly2395=) c.7446G= (p.Gly2482=) c.7458G= (p.Gly2486=) c.5583G= (p.Gly1861=) | |
| 6 | g.129465177G>T | CA451926416 | LAMA2 | c.7188G>T (p.Gly2396=) c.7452G>T (p.Gly2484=) n.819G>T n.527G>T c.7185G>T (p.Gly2395=) c.7446G>T (p.Gly2482=) c.7458G>T (p.Gly2486=) c.5583G>T (p.Gly1861=) | |
| 6 | g.129465178C>A | CA365621525 | LAMA2 | c.7189C>A (p.His2397Asn) c.7453C>A (p.His2485Asn) n.820C>A n.528C>A c.7186C>A (p.His2396Asn) c.7447C>A (p.His2483Asn) c.7459C>A (p.His2487Asn) c.5584C>A (p.His1862Asn) | |
| 6 | g.129465178C>G | CA365621511 | LAMA2 | c.7189C>G (p.His2397Asp) c.7453C>G (p.His2485Asp) n.820C>G n.528C>G c.7186C>G (p.His2396Asp) c.7447C>G (p.His2483Asp) c.7459C>G (p.His2487Asp) c.5584C>G (p.His1862Asp) | |
| 6 | g.129465178C>T | CA365621521 | LAMA2 | c.7189C>T (p.His2397Tyr) c.7453C>T (p.His2485Tyr) n.820C>T n.528C>T c.7186C>T (p.His2396Tyr) c.7447C>T (p.His2483Tyr) c.7459C>T (p.His2487Tyr) c.5584C>T (p.His1862Tyr) | |
| 6 | g.129465179A= | CA1663192608 | LAMA2 | c.7190A= (p.His2397=) c.7454A= (p.His2485=) n.821A= n.529A= c.7187A= (p.His2396=) c.7448A= (p.His2483=) c.7460A= (p.His2487=) c.5585A= (p.His1862=) | |
| 6 | g.129465179A>C | CA146892057 | LAMA2 | c.7190A>C (p.His2397Pro) c.7454A>C (p.His2485Pro) n.821A>C n.529A>C c.7187A>C (p.His2396Pro) c.7448A>C (p.His2483Pro) c.7460A>C (p.His2487Pro) c.5585A>C (p.His1862Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465179A>G | CA3994481 | LAMA2 | c.7190A>G (p.His2397Arg) c.7454A>G (p.His2485Arg) n.821A>G n.529A>G c.7187A>G (p.His2396Arg) c.7448A>G (p.His2483Arg) c.7460A>G (p.His2487Arg) c.5585A>G (p.His1862Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465179A>T | CA365621533 | LAMA2 | c.7190A>T (p.His2397Leu) c.7454A>T (p.His2485Leu) n.821A>T n.529A>T c.7187A>T (p.His2396Leu) c.7448A>T (p.His2483Leu) c.7460A>T (p.His2487Leu) c.5585A>T (p.His1862Leu) | |
| 6 | g.129465180C>A | CA365621538 | LAMA2 | c.7191C>A (p.His2397Gln) c.7455C>A (p.His2485Gln) n.822C>A n.530C>A c.7188C>A (p.His2396Gln) c.7449C>A (p.His2483Gln) c.7461C>A (p.His2487Gln) c.5586C>A (p.His1862Gln) | |
| 6 | g.129465180C>G | CA365621541 | LAMA2 | c.7191C>G (p.His2397Gln) c.7455C>G (p.His2485Gln) n.822C>G n.530C>G c.7188C>G (p.His2396Gln) c.7449C>G (p.His2483Gln) c.7461C>G (p.His2487Gln) c.5586C>G (p.His1862Gln) | |
| 6 | g.129465180C>T | CA451926418 | LAMA2 | c.7191C>T (p.His2397=) c.7455C>T (p.His2485=) n.822C>T n.530C>T c.7188C>T (p.His2396=) c.7449C>T (p.His2483=) c.7461C>T (p.His2487=) c.5586C>T (p.His1862=) | ClinVar dbSNP |
| 6 | g.129465181A= | CA1663192611 | LAMA2 | c.7192A= (p.Ile2398=) c.7456A= (p.Ile2486=) n.823A= n.531A= c.7189A= (p.Ile2397=) c.7450A= (p.Ile2484=) c.7462A= (p.Ile2488=) c.5587A= (p.Ile1863=) | |
| 6 | g.129465181A>C | CA365621545 | LAMA2 | c.7192A>C (p.Ile2398Leu) c.7456A>C (p.Ile2486Leu) n.823A>C n.531A>C c.7189A>C (p.Ile2397Leu) c.7450A>C (p.Ile2484Leu) c.7462A>C (p.Ile2488Leu) c.5587A>C (p.Ile1863Leu) |