| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129465166C>A | CA365621408 | LAMA2 | c.7177C>A (p.Leu2393Ile) c.7441C>A (p.Leu2481Ile) n.808C>A n.516C>A c.7174C>A (p.Leu2392Ile) c.7435C>A (p.Leu2479Ile) c.7447C>A (p.Leu2483Ile) c.5572C>A (p.Leu1858Ile) | gnomAD v4 |
| 6 | g.129465166C= | CA1663192589 | LAMA2 | c.7177C= (p.Leu2393=) c.7441C= (p.Leu2481=) n.808C= n.516C= c.7174C= (p.Leu2392=) c.7435C= (p.Leu2479=) c.7447C= (p.Leu2483=) c.5572C= (p.Leu1858=) | |
| 6 | g.129465166C>G | CA365621403 | LAMA2 | c.7177C>G (p.Leu2393Val) c.7441C>G (p.Leu2481Val) n.808C>G n.516C>G c.7174C>G (p.Leu2392Val) c.7435C>G (p.Leu2479Val) c.7447C>G (p.Leu2483Val) c.5572C>G (p.Leu1858Val) | |
| 6 | g.129465166C>T | CA365621401 | LAMA2 | c.7177C>T (p.Leu2393Phe) c.7441C>T (p.Leu2481Phe) n.808C>T n.516C>T c.7174C>T (p.Leu2392Phe) c.7435C>T (p.Leu2479Phe) c.7447C>T (p.Leu2483Phe) c.5572C>T (p.Leu1858Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465167T>A | CA365621412 | LAMA2 | c.7178T>A (p.Leu2393His) c.7442T>A (p.Leu2481His) n.809T>A n.517T>A c.7175T>A (p.Leu2392His) c.7436T>A (p.Leu2479His) c.7448T>A (p.Leu2483His) c.5573T>A (p.Leu1858His) | |
| 6 | g.129465167T>C | CA365621420 | LAMA2 | c.7178T>C (p.Leu2393Pro) c.7442T>C (p.Leu2481Pro) n.809T>C n.517T>C c.7175T>C (p.Leu2392Pro) c.7436T>C (p.Leu2479Pro) c.7448T>C (p.Leu2483Pro) c.5573T>C (p.Leu1858Pro) | gnomAD v4 |
| 6 | g.129465167T>G | CA365621422 | LAMA2 | c.7178T>G (p.Leu2393Arg) c.7442T>G (p.Leu2481Arg) n.809T>G n.517T>G c.7175T>G (p.Leu2392Arg) c.7436T>G (p.Leu2479Arg) c.7448T>G (p.Leu2483Arg) c.5573T>G (p.Leu1858Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465167T= | CA1663192590 | LAMA2 | c.7178T= (p.Leu2393=) c.7442T= (p.Leu2481=) n.809T= n.517T= c.7175T= (p.Leu2392=) c.7436T= (p.Leu2479=) c.7448T= (p.Leu2483=) c.5573T= (p.Leu1858=) | |
| 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) | |
| 6 | g.129465181A>G | CA365621547 | LAMA2 | c.7192A>G (p.Ile2398Val) c.7456A>G (p.Ile2486Val) n.823A>G n.531A>G c.7189A>G (p.Ile2397Val) c.7450A>G (p.Ile2484Val) c.7462A>G (p.Ile2488Val) c.5587A>G (p.Ile1863Val) | dbSNP |
| 6 | g.129465181A>T | CA365621553 | LAMA2 | c.7192A>T (p.Ile2398Leu) c.7456A>T (p.Ile2486Leu) n.823A>T n.531A>T c.7189A>T (p.Ile2397Leu) c.7450A>T (p.Ile2484Leu) c.7462A>T (p.Ile2488Leu) c.5587A>T (p.Ile1863Leu) | |
| 6 | g.129465182T>A | CA365621566 | LAMA2 | c.7193T>A (p.Ile2398Lys) c.7457T>A (p.Ile2486Lys) n.824T>A n.532T>A c.7190T>A (p.Ile2397Lys) c.7451T>A (p.Ile2484Lys) c.7463T>A (p.Ile2488Lys) c.5588T>A (p.Ile1863Lys) | |
| 6 | g.129465182T>C | CA365621559 | LAMA2 | c.7193T>C (p.Ile2398Thr) c.7457T>C (p.Ile2486Thr) n.824T>C n.532T>C c.7190T>C (p.Ile2397Thr) c.7451T>C (p.Ile2484Thr) c.7463T>C (p.Ile2488Thr) c.5588T>C (p.Ile1863Thr) | |
| 6 | g.129465182T>G | CA365621557 | LAMA2 | c.7193T>G (p.Ile2398Arg) c.7457T>G (p.Ile2486Arg) n.824T>G n.532T>G c.7190T>G (p.Ile2397Arg) c.7451T>G (p.Ile2484Arg) c.7463T>G (p.Ile2488Arg) c.5588T>G (p.Ile1863Arg) | |
| 6 | g.129465183A>C | CA451926422 | LAMA2 | c.7194A>C (p.Ile2398=) c.7458A>C (p.Ile2486=) n.825A>C n.533A>C c.7191A>C (p.Ile2397=) c.7452A>C (p.Ile2484=) c.7464A>C (p.Ile2488=) c.5589A>C (p.Ile1863=) | |
| 6 | g.129465183A>G | CA365621569 | LAMA2 | c.7194A>G (p.Ile2398Met) c.7458A>G (p.Ile2486Met) n.825A>G n.533A>G c.7191A>G (p.Ile2397Met) c.7452A>G (p.Ile2484Met) c.7464A>G (p.Ile2488Met) c.5589A>G (p.Ile1863Met) | gnomAD v4 |
| 6 | g.129465183A>T | CA451926423 | LAMA2 | c.7194A>T (p.Ile2398=) c.7458A>T (p.Ile2486=) n.825A>T n.533A>T c.7191A>T (p.Ile2397=) c.7452A>T (p.Ile2484=) c.7464A>T (p.Ile2488=) c.5589A>T (p.Ile1863=) | |
| 6 | g.129465184A>C | CA365621582 | LAMA2 | c.7195A>C (p.Lys2399Gln) c.7459A>C (p.Lys2487Gln) n.826A>C n.534A>C c.7192A>C (p.Lys2398Gln) c.7453A>C (p.Lys2485Gln) c.7465A>C (p.Lys2489Gln) c.5590A>C (p.Lys1864Gln) | |
| 6 | g.129465184A>G | CA365621587 | LAMA2 | c.7195A>G (p.Lys2399Glu) c.7459A>G (p.Lys2487Glu) n.826A>G n.534A>G c.7192A>G (p.Lys2398Glu) c.7453A>G (p.Lys2485Glu) c.7465A>G (p.Lys2489Glu) c.5590A>G (p.Lys1864Glu) | |
| 6 | g.129465184A>T | CA365621590 | LAMA2 | c.7195A>T (p.Lys2399Ter) c.7459A>T (p.Lys2487Ter) n.826A>T n.534A>T c.7192A>T (p.Lys2398Ter) c.7453A>T (p.Lys2485Ter) c.7465A>T (p.Lys2489Ter) c.5590A>T (p.Lys1864Ter) | |
| 6 | g.129465185A= | CA1663192613 | LAMA2 | c.7196A= (p.Lys2399=) c.7460A= (p.Lys2487=) n.827A= n.535A= c.7193A= (p.Lys2398=) c.7454A= (p.Lys2485=) c.7466A= (p.Lys2489=) c.5591A= (p.Lys1864=) | |
| 6 | g.129465185A>C | CA365621596 | LAMA2 | c.7196A>C (p.Lys2399Thr) c.7460A>C (p.Lys2487Thr) n.827A>C n.535A>C c.7193A>C (p.Lys2398Thr) c.7454A>C (p.Lys2485Thr) c.7466A>C (p.Lys2489Thr) c.5591A>C (p.Lys1864Thr) | |
| 6 | g.129465185A>G | CA365621598 | LAMA2 | c.7196A>G (p.Lys2399Arg) c.7460A>G (p.Lys2487Arg) n.827A>G n.535A>G c.7193A>G (p.Lys2398Arg) c.7454A>G (p.Lys2485Arg) c.7466A>G (p.Lys2489Arg) c.5591A>G (p.Lys1864Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465185A>T | CA365621599 | LAMA2 | c.7196A>T (p.Lys2399Ile) c.7460A>T (p.Lys2487Ile) n.827A>T n.535A>T c.7193A>T (p.Lys2398Ile) c.7454A>T (p.Lys2485Ile) c.7466A>T (p.Lys2489Ile) c.5591A>T (p.Lys1864Ile) | |
| 6 | g.129465186A= | CA1663192615 | LAMA2 | c.7197A= (p.Lys2399=) c.7461A= (p.Lys2487=) n.828A= n.536A= c.7194A= (p.Lys2398=) c.7455A= (p.Lys2485=) c.7467A= (p.Lys2489=) c.5592A= (p.Lys1864=) | |
| 6 | g.129465186A>C | CA3994482 | LAMA2 | c.7197A>C (p.Lys2399Asn) c.7461A>C (p.Lys2487Asn) n.828A>C n.536A>C c.7194A>C (p.Lys2398Asn) c.7455A>C (p.Lys2485Asn) c.7467A>C (p.Lys2489Asn) c.5592A>C (p.Lys1864Asn) | dbSNP ExAC gnomAD v2 |
| 6 | g.129465186A>G | CA451926427 | LAMA2 | c.7197A>G (p.Lys2399=) c.7461A>G (p.Lys2487=) n.828A>G n.536A>G c.7194A>G (p.Lys2398=) c.7455A>G (p.Lys2485=) c.7467A>G (p.Lys2489=) c.5592A>G (p.Lys1864=) | |
| 6 | g.129465186A>T | CA365621607 | LAMA2 | c.7197A>T (p.Lys2399Asn) c.7461A>T (p.Lys2487Asn) n.828A>T n.536A>T c.7194A>T (p.Lys2398Asn) c.7455A>T (p.Lys2485Asn) c.7467A>T (p.Lys2489Asn) c.5592A>T (p.Lys1864Asn) | gnomAD v4 |
| 6 | g.129465187G>A | CA146892066 | LAMA2 | c.7198G>A (p.Val2400Ile) c.7462G>A (p.Val2488Ile) n.829G>A n.537G>A c.7195G>A (p.Val2399Ile) c.7456G>A (p.Val2486Ile) c.7468G>A (p.Val2490Ile) c.5593G>A (p.Val1865Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465187G>C | CA365621610 | LAMA2 | c.7198G>C (p.Val2400Leu) c.7462G>C (p.Val2488Leu) n.829G>C n.537G>C c.7195G>C (p.Val2399Leu) c.7456G>C (p.Val2486Leu) c.7468G>C (p.Val2490Leu) c.5593G>C (p.Val1865Leu) | |
| 6 | g.129465187G= | CA1663192616 | LAMA2 | c.7198G= (p.Val2400=) c.7462G= (p.Val2488=) n.829G= n.537G= c.7195G= (p.Val2399=) c.7456G= (p.Val2486=) c.7468G= (p.Val2490=) c.5593G= (p.Val1865=) | |
| 6 | g.129465187G>T | CA365621614 | LAMA2 | c.7198G>T (p.Val2400Phe) c.7462G>T (p.Val2488Phe) n.829G>T n.537G>T c.7195G>T (p.Val2399Phe) c.7456G>T (p.Val2486Phe) c.7468G>T (p.Val2490Phe) c.5593G>T (p.Val1865Phe) | |
| 6 | g.129465188T>A | CA365621618 | LAMA2 | c.7199T>A (p.Val2400Asp) c.7463T>A (p.Val2488Asp) n.830T>A n.538T>A c.7196T>A (p.Val2399Asp) c.7457T>A (p.Val2486Asp) c.7469T>A (p.Val2490Asp) c.5594T>A (p.Val1865Asp) | |
| 6 | g.129465188T>C | CA365621620 | LAMA2 | c.7199T>C (p.Val2400Ala) c.7463T>C (p.Val2488Ala) n.830T>C n.538T>C c.7196T>C (p.Val2399Ala) c.7457T>C (p.Val2486Ala) c.7469T>C (p.Val2490Ala) c.5594T>C (p.Val1865Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465188T>G | CA365621616 | LAMA2 | c.7199T>G (p.Val2400Gly) c.7463T>G (p.Val2488Gly) n.830T>G n.538T>G c.7196T>G (p.Val2399Gly) c.7457T>G (p.Val2486Gly) c.7469T>G (p.Val2490Gly) c.5594T>G (p.Val1865Gly) | |
| 6 | g.129465188T= | CA1663192618 | LAMA2 | c.7199T= (p.Val2400=) c.7463T= (p.Val2488=) n.830T= n.538T= c.7196T= (p.Val2399=) c.7457T= (p.Val2486=) c.7469T= (p.Val2490=) c.5594T= (p.Val1865=) | |
| 6 | g.129465189C>A | CA451926430 | LAMA2 | c.7200C>A (p.Val2400=) c.7464C>A (p.Val2488=) n.831C>A n.539C>A c.7197C>A (p.Val2399=) c.7458C>A (p.Val2486=) c.7470C>A (p.Val2490=) c.5595C>A (p.Val1865=) | gnomAD v4 |
| 6 | g.129465189C>G | CA451926433 | LAMA2 | c.7200C>G (p.Val2400=) c.7464C>G (p.Val2488=) n.831C>G n.539C>G c.7197C>G (p.Val2399=) c.7458C>G (p.Val2486=) c.7470C>G (p.Val2490=) c.5595C>G (p.Val1865=) | |
| 6 | g.129465189C>T | CA451926432 | LAMA2 | c.7200C>T (p.Val2400=) c.7464C>T (p.Val2488=) n.831C>T n.539C>T c.7197C>T (p.Val2399=) c.7458C>T (p.Val2486=) c.7470C>T (p.Val2490=) c.5595C>T (p.Val1865=) | dbSNP |
| 6 | g.129465190A>C | CA365621624 | LAMA2 | c.7201A>C (p.Ser2401Arg) c.7465A>C (p.Ser2489Arg) n.832A>C n.540A>C c.7198A>C (p.Ser2400Arg) c.7459A>C (p.Ser2487Arg) c.7471A>C (p.Ser2491Arg) c.5596A>C (p.Ser1866Arg) | |
| 6 | g.129465190A>G | CA365621626 | LAMA2 | c.7201A>G (p.Ser2401Gly) c.7465A>G (p.Ser2489Gly) n.832A>G n.540A>G c.7198A>G (p.Ser2400Gly) c.7459A>G (p.Ser2487Gly) c.7471A>G (p.Ser2491Gly) c.5596A>G (p.Ser1866Gly) | |
| 6 | g.129465190A>T | CA365621628 | LAMA2 | c.7201A>T (p.Ser2401Cys) c.7465A>T (p.Ser2489Cys) n.832A>T n.540A>T c.7198A>T (p.Ser2400Cys) c.7459A>T (p.Ser2487Cys) c.7471A>T (p.Ser2491Cys) c.5596A>T (p.Ser1866Cys) | |
| 6 | g.129465191G>A | CA365621645 | LAMA2 | c.7202G>A (p.Ser2401Asn) c.7466G>A (p.Ser2489Asn) n.833G>A n.541G>A c.7199G>A (p.Ser2400Asn) c.7460G>A (p.Ser2487Asn) c.7472G>A (p.Ser2491Asn) c.5597G>A (p.Ser1866Asn) | |
| 6 | g.129465191G>C | CA365621649 | LAMA2 | c.7202G>C (p.Ser2401Thr) c.7466G>C (p.Ser2489Thr) n.833G>C n.541G>C c.7199G>C (p.Ser2400Thr) c.7460G>C (p.Ser2487Thr) c.7472G>C (p.Ser2491Thr) c.5597G>C (p.Ser1866Thr) | |
| 6 | g.129465191G>T | CA365621653 | LAMA2 | c.7202G>T (p.Ser2401Ile) c.7466G>T (p.Ser2489Ile) n.833G>T n.541G>T c.7199G>T (p.Ser2400Ile) c.7460G>T (p.Ser2487Ile) c.7472G>T (p.Ser2491Ile) c.5597G>T (p.Ser1866Ile) | |
| 6 | g.129465192T>A | CA365621659 | LAMA2 | c.7203T>A (p.Ser2401Arg) c.7467T>A (p.Ser2489Arg) n.834T>A n.542T>A c.7200T>A (p.Ser2400Arg) c.7461T>A (p.Ser2487Arg) c.7473T>A (p.Ser2491Arg) c.5598T>A (p.Ser1866Arg) | |
| 6 | g.129465192T>C | CA451926437 | LAMA2 | c.7203T>C (p.Ser2401=) c.7467T>C (p.Ser2489=) n.834T>C n.542T>C c.7200T>C (p.Ser2400=) c.7461T>C (p.Ser2487=) c.7473T>C (p.Ser2491=) c.5598T>C (p.Ser1866=) | |
| 6 | g.129465192T>G | CA365621657 | LAMA2 | c.7203T>G (p.Ser2401Arg) c.7467T>G (p.Ser2489Arg) n.834T>G n.542T>G c.7200T>G (p.Ser2400Arg) c.7461T>G (p.Ser2487Arg) c.7473T>G (p.Ser2491Arg) c.5598T>G (p.Ser1866Arg) | |
| 6 | g.129465193T>A | CA365621663 | LAMA2 | c.7204T>A (p.Tyr2402Asn) c.7468T>A (p.Tyr2490Asn) n.835T>A n.543T>A c.7201T>A (p.Tyr2401Asn) c.7462T>A (p.Tyr2488Asn) c.7474T>A (p.Tyr2492Asn) c.5599T>A (p.Tyr1867Asn) | |
| 6 | g.129465193T>C | CA365621664 | LAMA2 | c.7204T>C (p.Tyr2402His) c.7468T>C (p.Tyr2490His) n.835T>C n.543T>C c.7201T>C (p.Tyr2401His) c.7462T>C (p.Tyr2488His) c.7474T>C (p.Tyr2492His) c.5599T>C (p.Tyr1867His) | |
| 6 | g.129465193T>G | CA365621668 | LAMA2 | c.7204T>G (p.Tyr2402Asp) c.7468T>G (p.Tyr2490Asp) n.835T>G n.543T>G c.7201T>G (p.Tyr2401Asp) c.7462T>G (p.Tyr2488Asp) c.7474T>G (p.Tyr2492Asp) c.5599T>G (p.Tyr1867Asp) | |
| 6 | g.129465194A>C | CA365621676 | LAMA2 | c.7205A>C (p.Tyr2402Ser) c.7469A>C (p.Tyr2490Ser) n.836A>C n.544A>C c.7202A>C (p.Tyr2401Ser) c.7463A>C (p.Tyr2488Ser) c.7475A>C (p.Tyr2492Ser) c.5600A>C (p.Tyr1867Ser) | |
| 6 | g.129465194A>G | CA365621681 | LAMA2 | c.7205A>G (p.Tyr2402Cys) c.7469A>G (p.Tyr2490Cys) n.836A>G n.544A>G c.7202A>G (p.Tyr2401Cys) c.7463A>G (p.Tyr2488Cys) c.7475A>G (p.Tyr2492Cys) c.5600A>G (p.Tyr1867Cys) | |
| 6 | g.129465194A>T | CA365621686 | LAMA2 | c.7205A>T (p.Tyr2402Phe) c.7469A>T (p.Tyr2490Phe) n.836A>T n.544A>T c.7202A>T (p.Tyr2401Phe) c.7463A>T (p.Tyr2488Phe) c.7475A>T (p.Tyr2492Phe) c.5600A>T (p.Tyr1867Phe) | |
| 6 | g.129465195C>A | CA365621690 | LAMA2 | c.7206C>A (p.Tyr2402Ter) c.7470C>A (p.Tyr2490Ter) n.837C>A n.545C>A c.7203C>A (p.Tyr2401Ter) c.7464C>A (p.Tyr2488Ter) c.7476C>A (p.Tyr2492Ter) c.5601C>A (p.Tyr1867Ter) | |
| 6 | g.129465195C= | CA1663192621 | LAMA2 | c.7206C= (p.Tyr2402=) c.7470C= (p.Tyr2490=) n.837C= n.545C= c.7203C= (p.Tyr2401=) c.7464C= (p.Tyr2488=) c.7476C= (p.Tyr2492=) c.5601C= (p.Tyr1867=) | |
| 6 | g.129465195C>G | CA365621691 | LAMA2 | c.7206C>G (p.Tyr2402Ter) c.7470C>G (p.Tyr2490Ter) n.837C>G n.545C>G c.7203C>G (p.Tyr2401Ter) c.7464C>G (p.Tyr2488Ter) c.7476C>G (p.Tyr2492Ter) c.5601C>G (p.Tyr1867Ter) | |
| 6 | g.129465195C>T | CA3994483 | LAMA2 | c.7206C>T (p.Tyr2402=) c.7470C>T (p.Tyr2490=) n.837C>T n.545C>T c.7203C>T (p.Tyr2401=) c.7464C>T (p.Tyr2488=) c.7476C>T (p.Tyr2492=) c.5601C>T (p.Tyr1867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465196G>A | CA3994484 | LAMA2 | c.7207G>A (p.Asp2403Asn) c.7471G>A (p.Asp2491Asn) n.838G>A n.546G>A c.7204G>A (p.Asp2402Asn) c.7465G>A (p.Asp2489Asn) c.7477G>A (p.Asp2493Asn) c.5602G>A (p.Asp1868Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129465196G>C | CA365621694 | LAMA2 | c.7207G>C (p.Asp2403His) c.7471G>C (p.Asp2491His) n.838G>C n.546G>C c.7204G>C (p.Asp2402His) c.7465G>C (p.Asp2489His) c.7477G>C (p.Asp2493His) c.5602G>C (p.Asp1868His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465196G= | CA1663192625 | LAMA2 | c.7207G= (p.Asp2403=) c.7471G= (p.Asp2491=) n.838G= n.546G= c.7204G= (p.Asp2402=) c.7465G= (p.Asp2489=) c.7477G= (p.Asp2493=) c.5602G= (p.Asp1868=) | |
| 6 | g.129465196G>T | CA365621697 | LAMA2 | c.7207G>T (p.Asp2403Tyr) c.7471G>T (p.Asp2491Tyr) n.838G>T n.546G>T c.7204G>T (p.Asp2402Tyr) c.7465G>T (p.Asp2489Tyr) c.7477G>T (p.Asp2493Tyr) c.5602G>T (p.Asp1868Tyr) | |
| 6 | g.129465196_129465197dup | CA658796829 | LAMA2 | c.7207_7208dup (p.Asp2403GlufsTer?) c.7471_7472dup (p.Asp2491GlufsTer?) n.838_839dup n.546_547dup c.7204_7205dup (p.Asp2402GlufsTer?) c.7465_7466dup (p.Asp2489GlufsTer?) c.7477_7478dup (p.Asp2493GlufsTer?) c.5602_5603dup (p.Asp1868GlufsTer?) | ClinVar dbSNP |
| 6 | g.129465197A>C | CA365621702 | LAMA2 | c.7208A>C (p.Asp2403Ala) c.7472A>C (p.Asp2491Ala) n.839A>C n.547A>C c.7205A>C (p.Asp2402Ala) c.7466A>C (p.Asp2489Ala) c.7478A>C (p.Asp2493Ala) c.5603A>C (p.Asp1868Ala) | |
| 6 | g.129465197A>G | CA365621707 | LAMA2 | c.7208A>G (p.Asp2403Gly) c.7472A>G (p.Asp2491Gly) n.839A>G n.547A>G c.7205A>G (p.Asp2402Gly) c.7466A>G (p.Asp2489Gly) c.7478A>G (p.Asp2493Gly) c.5603A>G (p.Asp1868Gly) | |
| 6 | g.129465197A>T | CA365621710 | LAMA2 | c.7208A>T (p.Asp2403Val) c.7472A>T (p.Asp2491Val) n.839A>T n.547A>T c.7205A>T (p.Asp2402Val) c.7466A>T (p.Asp2489Val) c.7478A>T (p.Asp2493Val) c.5603A>T (p.Asp1868Val) | |
| 6 | g.129465198T>A | CA365621716 | LAMA2 | c.7209T>A (p.Asp2403Glu) c.7473T>A (p.Asp2491Glu) n.840T>A n.548T>A c.7206T>A (p.Asp2402Glu) c.7467T>A (p.Asp2489Glu) c.7479T>A (p.Asp2493Glu) c.5604T>A (p.Asp1868Glu) | |
| 6 | g.129465198T>C | CA3994485 | LAMA2 | c.7209T>C (p.Asp2403=) c.7473T>C (p.Asp2491=) n.840T>C n.548T>C c.7206T>C (p.Asp2402=) c.7467T>C (p.Asp2489=) c.7479T>C (p.Asp2493=) c.5604T>C (p.Asp1868=) | ClinVar dbSNP ExAC |
| 6 | g.129465198T>G | CA365621720 | LAMA2 | c.7209T>G (p.Asp2403Glu) c.7473T>G (p.Asp2491Glu) n.840T>G n.548T>G c.7206T>G (p.Asp2402Glu) c.7467T>G (p.Asp2489Glu) c.7479T>G (p.Asp2493Glu) c.5604T>G (p.Asp1868Glu) | |
| 6 | g.129465198T= | CA1663192629 | LAMA2 | c.7209T= (p.Asp2403=) c.7473T= (p.Asp2491=) n.840T= n.548T= c.7206T= (p.Asp2402=) c.7467T= (p.Asp2489=) c.7479T= (p.Asp2493=) c.5604T= (p.Asp1868=) | |
| 6 | g.129465199C>A | CA365621725 | LAMA2 | c.7210C>A (p.Leu2404Met) c.7474C>A (p.Leu2492Met) n.841C>A n.549C>A c.7207C>A (p.Leu2403Met) c.7468C>A (p.Leu2490Met) c.7480C>A (p.Leu2494Met) c.5605C>A (p.Leu1869Met) | gnomAD v4 |
| 6 | g.129465199C= | CA1663192631 | LAMA2 | c.7210C= (p.Leu2404=) c.7474C= (p.Leu2492=) n.841C= n.549C= c.7207C= (p.Leu2403=) c.7468C= (p.Leu2490=) c.7480C= (p.Leu2494=) c.5605C= (p.Leu1869=) | |
| 6 | g.129465199C>G | CA3994486 | LAMA2 | c.7210C>G (p.Leu2404Val) c.7474C>G (p.Leu2492Val) n.841C>G n.549C>G c.7207C>G (p.Leu2403Val) c.7468C>G (p.Leu2490Val) c.7480C>G (p.Leu2494Val) c.5605C>G (p.Leu1869Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465199C>T | CA451926442 | LAMA2 | c.7210C>T (p.Leu2404=) c.7474C>T (p.Leu2492=) n.841C>T n.549C>T c.7207C>T (p.Leu2403=) c.7468C>T (p.Leu2490=) c.7480C>T (p.Leu2494=) c.5605C>T (p.Leu1869=) | |
| 6 | g.129465200T>A | CA365621743 | LAMA2 | c.7211T>A (p.Leu2404Gln) c.7475T>A (p.Leu2492Gln) n.842T>A n.550T>A c.7208T>A (p.Leu2403Gln) c.7469T>A (p.Leu2490Gln) c.7481T>A (p.Leu2494Gln) c.5606T>A (p.Leu1869Gln) | |
| 6 | g.129465200T>C | CA365621741 | LAMA2 | c.7211T>C (p.Leu2404Pro) c.7475T>C (p.Leu2492Pro) n.842T>C n.550T>C c.7208T>C (p.Leu2403Pro) c.7469T>C (p.Leu2490Pro) c.7481T>C (p.Leu2494Pro) c.5606T>C (p.Leu1869Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465200T>G | CA365621733 | LAMA2 | c.7211T>G (p.Leu2404Arg) c.7475T>G (p.Leu2492Arg) n.842T>G n.550T>G c.7208T>G (p.Leu2403Arg) c.7469T>G (p.Leu2490Arg) c.7481T>G (p.Leu2494Arg) c.5606T>G (p.Leu1869Arg) | gnomAD v4 |
| 6 | g.129465200T= | CA1663192632 | LAMA2 | c.7211T= (p.Leu2404=) c.7475T= (p.Leu2492=) n.842T= n.550T= c.7208T= (p.Leu2403=) c.7469T= (p.Leu2490=) c.7481T= (p.Leu2494=) c.5606T= (p.Leu1869=) | |
| 6 | g.129465201G>A | CA451926443 | LAMA2 | c.7212G>A (p.Leu2404=) c.7476G>A (p.Leu2492=) n.843G>A n.551G>A c.7209G>A (p.Leu2403=) c.7470G>A (p.Leu2490=) c.7482G>A (p.Leu2494=) c.5607G>A (p.Leu1869=) | |
| 6 | g.129465201G>C | CA451926445 | LAMA2 | c.7212G>C (p.Leu2404=) c.7476G>C (p.Leu2492=) n.843G>C n.551G>C c.7209G>C (p.Leu2403=) c.7470G>C (p.Leu2490=) c.7482G>C (p.Leu2494=) c.5607G>C (p.Leu1869=) | |
| 6 | g.129465201G>T | CA451926444 | LAMA2 | c.7212G>T (p.Leu2404=) c.7476G>T (p.Leu2492=) n.843G>T n.551G>T c.7209G>T (p.Leu2403=) c.7470G>T (p.Leu2490=) c.7482G>T (p.Leu2494=) c.5607G>T (p.Leu1869=) | |
| 6 | g.129465202G>A | CA365621744 | LAMA2 | c.7213G>A (p.Gly2405Ser) c.7477G>A (p.Gly2493Ser) n.844G>A n.552G>A c.7210G>A (p.Gly2404Ser) c.7471G>A (p.Gly2491Ser) c.7483G>A (p.Gly2495Ser) c.5608G>A (p.Gly1870Ser) | |
| 6 | g.129465202G>C | CA365621747 | LAMA2 | c.7213G>C (p.Gly2405Arg) c.7477G>C (p.Gly2493Arg) n.844G>C n.552G>C c.7210G>C (p.Gly2404Arg) c.7471G>C (p.Gly2491Arg) c.7483G>C (p.Gly2495Arg) c.5608G>C (p.Gly1870Arg) | |
| 6 | g.129465202G>T | CA365621751 | LAMA2 | c.7213G>T (p.Gly2405Cys) c.7477G>T (p.Gly2493Cys) n.844G>T n.552G>T c.7210G>T (p.Gly2404Cys) c.7471G>T (p.Gly2491Cys) c.7483G>T (p.Gly2495Cys) c.5608G>T (p.Gly1870Cys) | |
| 6 | g.129465203G>A | CA3994487 | LAMA2 | c.7214G>A (p.Gly2405Asp) c.7478G>A (p.Gly2493Asp) n.845G>A n.553G>A c.7211G>A (p.Gly2404Asp) c.7472G>A (p.Gly2491Asp) c.7484G>A (p.Gly2495Asp) c.5609G>A (p.Gly1870Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465203G>C | CA365621762 | LAMA2 | c.7214G>C (p.Gly2405Ala) c.7478G>C (p.Gly2493Ala) n.845G>C n.553G>C c.7211G>C (p.Gly2404Ala) c.7472G>C (p.Gly2491Ala) c.7484G>C (p.Gly2495Ala) c.5609G>C (p.Gly1870Ala) | |
| 6 | g.129465203G= | CA1663192634 | LAMA2 | c.7214G= (p.Gly2405=) c.7478G= (p.Gly2493=) n.845G= n.553G= c.7211G= (p.Gly2404=) c.7472G= (p.Gly2491=) c.7484G= (p.Gly2495=) c.5609G= (p.Gly1870=) | |
| 6 | g.129465203G>T | CA365621766 | LAMA2 | c.7214G>T (p.Gly2405Val) c.7478G>T (p.Gly2493Val) n.845G>T n.553G>T c.7211G>T (p.Gly2404Val) c.7472G>T (p.Gly2491Val) c.7484G>T (p.Gly2495Val) c.5609G>T (p.Gly1870Val) | gnomAD v4 |
| 6 | g.129465204C>A | CA451926448 | LAMA2 | c.7215C>A (p.Gly2405=) c.7479C>A (p.Gly2493=) n.846C>A n.554C>A c.7212C>A (p.Gly2404=) c.7473C>A (p.Gly2491=) c.7485C>A (p.Gly2495=) c.5610C>A (p.Gly1870=) | |
| 6 | g.129465204C>G | CA451926447 | LAMA2 | c.7215C>G (p.Gly2405=) c.7479C>G (p.Gly2493=) n.846C>G n.554C>G c.7212C>G (p.Gly2404=) c.7473C>G (p.Gly2491=) c.7485C>G (p.Gly2495=) c.5610C>G (p.Gly1870=) | |
| 6 | g.129465204C>T | CA451926446 | LAMA2 | c.7215C>T (p.Gly2405=) c.7479C>T (p.Gly2493=) n.846C>T n.554C>T c.7212C>T (p.Gly2404=) c.7473C>T (p.Gly2491=) c.7485C>T (p.Gly2495=) c.5610C>T (p.Gly1870=) | |
| 6 | g.129465204_129465206delinsA | CA2580074991 | LAMA2 | c.7215_7217delinsA (p.Ser2406ArgfsTer12) c.7479_7481delinsA (p.Ser2494ArgfsTer12) n.846_848delinsA n.554_556delinsA c.7212_7214delinsA (p.Ser2405ArgfsTer12) c.7473_7475delinsA (p.Ser2492ArgfsTer12) c.7485_7487delinsA (p.Ser2496ArgfsTer12) c.5610_5612delinsA (p.Ser1871ArgfsTer12) | ClinVar |
| 6 | g.129465205T>A | CA365621788 | LAMA2 | c.7216T>A (p.Ser2406Thr) c.7480T>A (p.Ser2494Thr) n.847T>A n.555T>A c.7213T>A (p.Ser2405Thr) c.7474T>A (p.Ser2492Thr) c.7486T>A (p.Ser2496Thr) c.5611T>A (p.Ser1871Thr) | |
| 6 | g.129465205T>C | CA365621784 | LAMA2 | c.7216T>C (p.Ser2406Pro) c.7480T>C (p.Ser2494Pro) n.847T>C n.555T>C c.7213T>C (p.Ser2405Pro) c.7474T>C (p.Ser2492Pro) c.7486T>C (p.Ser2496Pro) c.5611T>C (p.Ser1871Pro) | ClinVar dbSNP |
| 6 | g.129465205T>G | CA365621782 | LAMA2 | c.7216T>G (p.Ser2406Ala) c.7480T>G (p.Ser2494Ala) n.847T>G n.555T>G c.7213T>G (p.Ser2405Ala) c.7474T>G (p.Ser2492Ala) c.7486T>G (p.Ser2496Ala) c.5611T>G (p.Ser1871Ala) | |
| 6 | g.129465206C>A | CA365621791 | LAMA2 | c.7217C>A (p.Ser2406Ter) c.7481C>A (p.Ser2494Ter) n.848C>A n.556C>A c.7214C>A (p.Ser2405Ter) c.7475C>A (p.Ser2492Ter) c.7487C>A (p.Ser2496Ter) c.5612C>A (p.Ser1871Ter) | |
| 6 | g.129465206C>G | CA365621793 | LAMA2 | c.7217C>G (p.Ser2406Ter) c.7481C>G (p.Ser2494Ter) n.848C>G n.556C>G c.7214C>G (p.Ser2405Ter) c.7475C>G (p.Ser2492Ter) c.7487C>G (p.Ser2496Ter) c.5612C>G (p.Ser1871Ter) | |
| 6 | g.129465206C>T | CA365621795 | LAMA2 | c.7217C>T (p.Ser2406Leu) c.7481C>T (p.Ser2494Leu) n.848C>T n.556C>T c.7214C>T (p.Ser2405Leu) c.7475C>T (p.Ser2492Leu) c.7487C>T (p.Ser2496Leu) c.5612C>T (p.Ser1871Leu) | gnomAD v4 |
| 6 | g.129465207A>C | CA451926449 | LAMA2 | c.7218A>C (p.Ser2406=) c.7482A>C (p.Ser2494=) n.849A>C n.557A>C c.7215A>C (p.Ser2405=) c.7476A>C (p.Ser2492=) c.7488A>C (p.Ser2496=) c.5613A>C (p.Ser1871=) | gnomAD v4 |
| 6 | g.129465207A>G | CA451926451 | LAMA2 | c.7218A>G (p.Ser2406=) c.7482A>G (p.Ser2494=) n.849A>G n.557A>G c.7215A>G (p.Ser2405=) c.7476A>G (p.Ser2492=) c.7488A>G (p.Ser2496=) c.5613A>G (p.Ser1871=) | gnomAD v4 |
| 6 | g.129465207A>T | CA451926450 | LAMA2 | c.7218A>T (p.Ser2406=) c.7482A>T (p.Ser2494=) n.849A>T n.557A>T c.7215A>T (p.Ser2405=) c.7476A>T (p.Ser2492=) c.7488A>T (p.Ser2496=) c.5613A>T (p.Ser1871=) | |
| 6 | g.129465208G>A | CA365621797 | LAMA2 | c.7219G>A (p.Gly2407Arg) c.7483G>A (p.Gly2495Arg) n.850G>A c.7216G>A (p.Gly2406Arg) c.7477G>A (p.Gly2493Arg) c.7489G>A (p.Gly2497Arg) c.5614G>A (p.Gly1872Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465208G>C | CA365621801 | LAMA2 | c.7219G>C (p.Gly2407Arg) c.7483G>C (p.Gly2495Arg) n.850G>C c.7216G>C (p.Gly2406Arg) c.7477G>C (p.Gly2493Arg) c.7489G>C (p.Gly2497Arg) c.5614G>C (p.Gly1872Arg) | |
| 6 | g.129465208G= | CA1663192636 | LAMA2 | c.7219G= (p.Gly2407=) c.7483G= (p.Gly2495=) n.850G= c.7216G= (p.Gly2406=) c.7477G= (p.Gly2493=) c.7489G= (p.Gly2497=) c.5614G= (p.Gly1872=) | |
| 6 | g.129465208G>T | CA365621818 | LAMA2 | c.7219G>T (p.Gly2407Ter) c.7483G>T (p.Gly2495Ter) n.850G>T c.7216G>T (p.Gly2406Ter) c.7477G>T (p.Gly2493Ter) c.7489G>T (p.Gly2497Ter) c.5614G>T (p.Gly1872Ter) | |
| 6 | g.129465209G>A | CA365621823 | LAMA2 | c.7220G>A (p.Gly2407Glu) c.7484G>A (p.Gly2495Glu) n.851G>A c.7217G>A (p.Gly2406Glu) c.7478G>A (p.Gly2493Glu) c.7490G>A (p.Gly2497Glu) c.5615G>A (p.Gly1872Glu) | |
| 6 | g.129465209G>C | CA365621827 | LAMA2 | c.7220G>C (p.Gly2407Ala) c.7484G>C (p.Gly2495Ala) n.851G>C c.7217G>C (p.Gly2406Ala) c.7478G>C (p.Gly2493Ala) c.7490G>C (p.Gly2497Ala) c.5615G>C (p.Gly1872Ala) | |
| 6 | g.129465209G>T | CA365621825 | LAMA2 | c.7220G>T (p.Gly2407Val) c.7484G>T (p.Gly2495Val) n.851G>T c.7217G>T (p.Gly2406Val) c.7478G>T (p.Gly2493Val) c.7490G>T (p.Gly2497Val) c.5615G>T (p.Gly1872Val) | |
| 6 | g.129465210A>C | CA451926452 | LAMA2 | c.7221A>C (p.Gly2407=) c.7485A>C (p.Gly2495=) n.852A>C c.7218A>C (p.Gly2406=) c.7479A>C (p.Gly2493=) c.7491A>C (p.Gly2497=) c.5616A>C (p.Gly1872=) | |
| 6 | g.129465210A>G | CA451926453 | LAMA2 | c.7221A>G (p.Gly2407=) c.7485A>G (p.Gly2495=) n.852A>G c.7218A>G (p.Gly2406=) c.7479A>G (p.Gly2493=) c.7491A>G (p.Gly2497=) c.5616A>G (p.Gly1872=) | |
| 6 | g.129465210A>T | CA451926454 | LAMA2 | c.7221A>T (p.Gly2407=) c.7485A>T (p.Gly2495=) n.852A>T c.7218A>T (p.Gly2406=) c.7479A>T (p.Gly2493=) c.7491A>T (p.Gly2497=) c.5616A>T (p.Gly1872=) | |
| 6 | g.129465211A>C | CA365621831 | LAMA2 | c.7222A>C (p.Met2408Leu) c.7486A>C (p.Met2496Leu) n.853A>C c.7219A>C (p.Met2407Leu) c.7480A>C (p.Met2494Leu) c.7492A>C (p.Met2498Leu) c.5617A>C (p.Met1873Leu) | |
| 6 | g.129465211A>G | CA365621832 | LAMA2 | c.7222A>G (p.Met2408Val) c.7486A>G (p.Met2496Val) n.853A>G c.7219A>G (p.Met2407Val) c.7480A>G (p.Met2494Val) c.7492A>G (p.Met2498Val) c.5617A>G (p.Met1873Val) | |
| 6 | g.129465211A>T | CA365621835 | LAMA2 | c.7222A>T (p.Met2408Leu) c.7486A>T (p.Met2496Leu) n.853A>T c.7219A>T (p.Met2407Leu) c.7480A>T (p.Met2494Leu) c.7492A>T (p.Met2498Leu) c.5617A>T (p.Met1873Leu) | |
| 6 | g.129465212T>A | CA365621838 | LAMA2 | c.7223T>A (p.Met2408Lys) c.7487T>A (p.Met2496Lys) n.854T>A c.7220T>A (p.Met2407Lys) c.7481T>A (p.Met2494Lys) c.7493T>A (p.Met2498Lys) c.5618T>A (p.Met1873Lys) | |
| 6 | g.129465212T>C | CA146892120 | LAMA2 | c.7223T>C (p.Met2408Thr) c.7487T>C (p.Met2496Thr) n.854T>C c.7220T>C (p.Met2407Thr) c.7481T>C (p.Met2494Thr) c.7493T>C (p.Met2498Thr) c.5618T>C (p.Met1873Thr) | dbSNP |
| 6 | g.129465212T>G | CA365621842 | LAMA2 | c.7223T>G (p.Met2408Arg) c.7487T>G (p.Met2496Arg) n.854T>G c.7220T>G (p.Met2407Arg) c.7481T>G (p.Met2494Arg) c.7493T>G (p.Met2498Arg) c.5618T>G (p.Met1873Arg) | |
| 6 | g.129465212T= | CA1663192638 | LAMA2 | c.7223T= (p.Met2408=) c.7487T= (p.Met2496=) n.854T= c.7220T= (p.Met2407=) c.7481T= (p.Met2494=) c.7493T= (p.Met2498=) c.5618T= (p.Met1873=) | |
| 6 | g.129465213G>A | CA365621844 | LAMA2 | c.7224G>A (p.Met2408Ile) c.7488G>A (p.Met2496Ile) n.855G>A c.7221G>A (p.Met2407Ile) c.7482G>A (p.Met2494Ile) c.7494G>A (p.Met2498Ile) c.5619G>A (p.Met1873Ile) | |
| 6 | g.129465213G>C | CA365621847 | LAMA2 | c.7224G>C (p.Met2408Ile) c.7488G>C (p.Met2496Ile) n.855G>C c.7221G>C (p.Met2407Ile) c.7482G>C (p.Met2494Ile) c.7494G>C (p.Met2498Ile) c.5619G>C (p.Met1873Ile) | |
| 6 | g.129465213G>T | CA365621848 | LAMA2 | c.7224G>T (p.Met2408Ile) c.7488G>T (p.Met2496Ile) n.855G>T c.7221G>T (p.Met2407Ile) c.7482G>T (p.Met2494Ile) c.7494G>T (p.Met2498Ile) c.5619G>T (p.Met1873Ile) | |
| 6 | g.129465214G>A | CA365621850 | LAMA2 | c.7225G>A (p.Ala2409Thr) c.7489G>A (p.Ala2497Thr) n.856G>A c.7222G>A (p.Ala2408Thr) c.7483G>A (p.Ala2495Thr) c.7495G>A (p.Ala2499Thr) c.5620G>A (p.Ala1874Thr) | |
| 6 | g.129465214G>C | CA365621853 | LAMA2 | c.7225G>C (p.Ala2409Pro) c.7489G>C (p.Ala2497Pro) n.856G>C c.7222G>C (p.Ala2408Pro) c.7483G>C (p.Ala2495Pro) c.7495G>C (p.Ala2499Pro) c.5620G>C (p.Ala1874Pro) | |
| 6 | g.129465214G= | CA1663192640 | LAMA2 | c.7225G= (p.Ala2409=) c.7489G= (p.Ala2497=) n.856G= c.7222G= (p.Ala2408=) c.7483G= (p.Ala2495=) c.7495G= (p.Ala2499=) c.5620G= (p.Ala1874=) | |
| 6 | g.129465214G>T | CA365621857 | LAMA2 | c.7225G>T (p.Ala2409Ser) c.7489G>T (p.Ala2497Ser) n.856G>T c.7222G>T (p.Ala2408Ser) c.7483G>T (p.Ala2495Ser) c.7495G>T (p.Ala2499Ser) c.5620G>T (p.Ala1874Ser) | dbSNP |
| 6 | g.129465215C>A | CA365621864 | LAMA2 | c.7226C>A (p.Ala2409Asp) c.7490C>A (p.Ala2497Asp) n.857C>A c.7223C>A (p.Ala2408Asp) c.7484C>A (p.Ala2495Asp) c.7496C>A (p.Ala2499Asp) c.5621C>A (p.Ala1874Asp) | |
| 6 | g.129465215C= | CA1663192641 | LAMA2 | c.7226C= (p.Ala2409=) c.7490C= (p.Ala2497=) n.857C= c.7223C= (p.Ala2408=) c.7484C= (p.Ala2495=) c.7496C= (p.Ala2499=) c.5621C= (p.Ala1874=) | |
| 6 | g.129465215C>G | CA365621859 | LAMA2 | c.7226C>G (p.Ala2409Gly) c.7490C>G (p.Ala2497Gly) n.857C>G c.7223C>G (p.Ala2408Gly) c.7484C>G (p.Ala2495Gly) c.7496C>G (p.Ala2499Gly) c.5621C>G (p.Ala1874Gly) | gnomAD v4 |
| 6 | g.129465215C>T | CA365621861 | LAMA2 | c.7226C>T (p.Ala2409Val) c.7490C>T (p.Ala2497Val) n.857C>T c.7223C>T (p.Ala2408Val) c.7484C>T (p.Ala2495Val) c.7496C>T (p.Ala2499Val) c.5621C>T (p.Ala1874Val) | dbSNP gnomAD v4 |
| 6 | g.129465216T>A | CA451926455 | LAMA2 | c.7227T>A (p.Ala2409=) c.7491T>A (p.Ala2497=) n.858T>A c.7224T>A (p.Ala2408=) c.7485T>A (p.Ala2495=) c.7497T>A (p.Ala2499=) c.5622T>A (p.Ala1874=) | |
| 6 | g.129465216T>C | CA451926456 | LAMA2 | c.7227T>C (p.Ala2409=) c.7491T>C (p.Ala2497=) n.858T>C c.7224T>C (p.Ala2408=) c.7485T>C (p.Ala2495=) c.7497T>C (p.Ala2499=) c.5622T>C (p.Ala1874=) | |
| 6 | g.129465216T>G | CA451926457 | LAMA2 | c.7227T>G (p.Ala2409=) c.7491T>G (p.Ala2497=) n.858T>G c.7224T>G (p.Ala2408=) c.7485T>G (p.Ala2495=) c.7497T>G (p.Ala2499=) c.5622T>G (p.Ala1874=) | |
| 6 | g.129465217T>A | CA365621868 | LAMA2 | c.7228T>A (p.Ser2410Thr) c.7492T>A (p.Ser2498Thr) n.859T>A c.7225T>A (p.Ser2409Thr) c.7486T>A (p.Ser2496Thr) c.7498T>A (p.Ser2500Thr) c.5623T>A (p.Ser1875Thr) | |
| 6 | g.129465217T>C | CA365621875 | LAMA2 | c.7228T>C (p.Ser2410Pro) c.7492T>C (p.Ser2498Pro) n.859T>C c.7225T>C (p.Ser2409Pro) c.7486T>C (p.Ser2496Pro) c.7498T>C (p.Ser2500Pro) c.5623T>C (p.Ser1875Pro) | |
| 6 | g.129465217T>G | CA365621878 | LAMA2 | c.7228T>G (p.Ser2410Ala) c.7492T>G (p.Ser2498Ala) n.859T>G c.7225T>G (p.Ser2409Ala) c.7486T>G (p.Ser2496Ala) c.7498T>G (p.Ser2500Ala) c.5623T>G (p.Ser1875Ala) | |
| 6 | g.129465218C>A | CA365621881 | LAMA2 | c.7229C>A (p.Ser2410Tyr) c.7493C>A (p.Ser2498Tyr) n.860C>A c.7226C>A (p.Ser2409Tyr) c.7487C>A (p.Ser2496Tyr) c.7499C>A (p.Ser2500Tyr) c.5624C>A (p.Ser1875Tyr) | |
| 6 | g.129465218C>G | CA365621882 | LAMA2 | c.7229C>G (p.Ser2410Cys) c.7493C>G (p.Ser2498Cys) n.860C>G c.7226C>G (p.Ser2409Cys) c.7487C>G (p.Ser2496Cys) c.7499C>G (p.Ser2500Cys) c.5624C>G (p.Ser1875Cys) | |
| 6 | g.129465218C>T | CA365621885 | LAMA2 | c.7229C>T (p.Ser2410Phe) c.7493C>T (p.Ser2498Phe) n.860C>T c.7226C>T (p.Ser2409Phe) c.7487C>T (p.Ser2496Phe) c.7499C>T (p.Ser2500Phe) c.5624C>T (p.Ser1875Phe) | |
| 6 | g.129465219C>A | CA451926458 | LAMA2 | c.7230C>A (p.Ser2410=) c.7494C>A (p.Ser2498=) n.861C>A c.7227C>A (p.Ser2409=) c.7488C>A (p.Ser2496=) c.7500C>A (p.Ser2500=) c.5625C>A (p.Ser1875=) | gnomAD v4 |
| 6 | g.129465219C= | CA1663192643 | LAMA2 | c.7230C= (p.Ser2410=) c.7494C= (p.Ser2498=) n.861C= c.7227C= (p.Ser2409=) c.7488C= (p.Ser2496=) c.7500C= (p.Ser2500=) c.5625C= (p.Ser1875=) | |
| 6 | g.129465219C>G | CA451926459 | LAMA2 | c.7230C>G (p.Ser2410=) c.7494C>G (p.Ser2498=) n.861C>G c.7227C>G (p.Ser2409=) c.7488C>G (p.Ser2496=) c.7500C>G (p.Ser2500=) c.5625C>G (p.Ser1875=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465219C>T | CA3994488 | LAMA2 | c.7230C>T (p.Ser2410=) c.7494C>T (p.Ser2498=) n.861C>T c.7227C>T (p.Ser2409=) c.7488C>T (p.Ser2496=) c.7500C>T (p.Ser2500=) c.5625C>T (p.Ser1875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465219_129465220insT | CA645547602 | LAMA2 | c.7230_7231insT (p.Val2411CysfsTer8) c.7494_7495insT (p.Val2499CysfsTer8) n.861_862insT c.7227_7228insT (p.Val2410CysfsTer8) c.7488_7489insT (p.Val2497CysfsTer8) c.7500_7501insT (p.Val2501CysfsTer8) c.5625_5626insT (p.Val1876CysfsTer8) | COSMIC |
| 6 | g.129465220G>A | CA3994489 | LAMA2 | c.7231G>A (p.Val2411Ile) c.7495G>A (p.Val2499Ile) n.862G>A c.7228G>A (p.Val2410Ile) c.7489G>A (p.Val2497Ile) c.7501G>A (p.Val2501Ile) c.5626G>A (p.Val1876Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465220G>C | CA365621890 | LAMA2 | c.7231G>C (p.Val2411Leu) c.7495G>C (p.Val2499Leu) n.862G>C c.7228G>C (p.Val2410Leu) c.7489G>C (p.Val2497Leu) c.7501G>C (p.Val2501Leu) c.5626G>C (p.Val1876Leu) | |
| 6 | g.129465220G= | CA1663192644 | LAMA2 | c.7231G= (p.Val2411=) c.7495G= (p.Val2499=) n.862G= c.7228G= (p.Val2410=) c.7489G= (p.Val2497=) c.7501G= (p.Val2501=) c.5626G= (p.Val1876=) | |
| 6 | g.129465220G>T | CA365621889 | LAMA2 | c.7231G>T (p.Val2411Phe) c.7495G>T (p.Val2499Phe) n.862G>T c.7228G>T (p.Val2410Phe) c.7489G>T (p.Val2497Phe) c.7501G>T (p.Val2501Phe) c.5626G>T (p.Val1876Phe) | |
| 6 | g.129465221T>A | CA365621900 | LAMA2 | c.7232T>A (p.Val2411Asp) c.7496T>A (p.Val2499Asp) n.863T>A c.7229T>A (p.Val2410Asp) c.7490T>A (p.Val2497Asp) c.7502T>A (p.Val2501Asp) c.5627T>A (p.Val1876Asp) | |
| 6 | g.129465221T>C | CA365621903 | LAMA2 | c.7232T>C (p.Val2411Ala) c.7496T>C (p.Val2499Ala) n.863T>C c.7229T>C (p.Val2410Ala) c.7490T>C (p.Val2497Ala) c.7502T>C (p.Val2501Ala) c.5627T>C (p.Val1876Ala) | |
| 6 | g.129465221T>G | CA365621905 | LAMA2 | c.7232T>G (p.Val2411Gly) c.7496T>G (p.Val2499Gly) n.863T>G c.7229T>G (p.Val2410Gly) c.7490T>G (p.Val2497Gly) c.7502T>G (p.Val2501Gly) c.5627T>G (p.Val1876Gly) | |
| 6 | g.129465222dup | CA451926460 | LAMA2 | c.7233dup (p.Val2412CysfsTer7) c.7497dup (p.Val2500CysfsTer7) n.864dup c.7230dup (p.Val2411CysfsTer7) c.7491dup (p.Val2498CysfsTer7) c.7503dup (p.Val2502CysfsTer7) c.5628dup (p.Val1877CysfsTer7) | |
| 6 | g.129465222T>A | CA451926462 | LAMA2 | c.7233T>A (p.Val2411=) c.7497T>A (p.Val2499=) n.864T>A c.7230T>A (p.Val2410=) c.7491T>A (p.Val2497=) c.7503T>A (p.Val2501=) c.5628T>A (p.Val1876=) | |
| 6 | g.129465222T>C | CA3994490 | LAMA2 | c.7233T>C (p.Val2411=) c.7497T>C (p.Val2499=) n.864T>C c.7230T>C (p.Val2410=) c.7491T>C (p.Val2497=) c.7503T>C (p.Val2501=) c.5628T>C (p.Val1876=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465222T>G | CA451926461 | LAMA2 | c.7233T>G (p.Val2411=) c.7497T>G (p.Val2499=) n.864T>G c.7230T>G (p.Val2410=) c.7491T>G (p.Val2497=) c.7503T>G (p.Val2501=) c.5628T>G (p.Val1876=) | |
| 6 | g.129465222T= | CA1663192646 | LAMA2 | c.7233T= (p.Val2411=) c.7497T= (p.Val2499=) n.864T= c.7230T= (p.Val2410=) c.7491T= (p.Val2497=) c.7503T= (p.Val2501=) c.5628T= (p.Val1876=) | |
| 6 | g.129465223G>A | CA146892144 | LAMA2 | c.7234G>A (p.Val2412Ile) c.7498G>A (p.Val2500Ile) n.865G>A c.7231G>A (p.Val2411Ile) c.7492G>A (p.Val2498Ile) c.7504G>A (p.Val2502Ile) c.5629G>A (p.Val1877Ile) | dbSNP |
| 6 | g.129465223G>C | CA365621911 | LAMA2 | c.7234G>C (p.Val2412Leu) c.7498G>C (p.Val2500Leu) n.865G>C c.7231G>C (p.Val2411Leu) c.7492G>C (p.Val2498Leu) c.7504G>C (p.Val2502Leu) c.5629G>C (p.Val1877Leu) | |
| 6 | g.129465223G= | CA1663192648 | LAMA2 | c.7234G= (p.Val2412=) c.7498G= (p.Val2500=) n.865G= c.7231G= (p.Val2411=) c.7492G= (p.Val2498=) c.7504G= (p.Val2502=) c.5629G= (p.Val1877=) | |
| 6 | g.129465223G>T | CA365621913 | LAMA2 | c.7234G>T (p.Val2412Phe) c.7498G>T (p.Val2500Phe) n.865G>T c.7231G>T (p.Val2411Phe) c.7492G>T (p.Val2498Phe) c.7504G>T (p.Val2502Phe) c.5629G>T (p.Val1877Phe) | |
| 6 | g.129465224T>A | CA365621917 | LAMA2 | c.7235T>A (p.Val2412Asp) c.7499T>A (p.Val2500Asp) n.866T>A c.7232T>A (p.Val2411Asp) c.7493T>A (p.Val2498Asp) c.7505T>A (p.Val2502Asp) c.5630T>A (p.Val1877Asp) | |
| 6 | g.129465224T>C | CA365621920 | LAMA2 | c.7235T>C (p.Val2412Ala) c.7499T>C (p.Val2500Ala) n.866T>C c.7232T>C (p.Val2411Ala) c.7493T>C (p.Val2498Ala) c.7505T>C (p.Val2502Ala) c.5630T>C (p.Val1877Ala) | |
| 6 | g.129465224T>G | CA365621922 | LAMA2 | c.7235T>G (p.Val2412Gly) c.7499T>G (p.Val2500Gly) n.866T>G c.7232T>G (p.Val2411Gly) c.7493T>G (p.Val2498Gly) c.7505T>G (p.Val2502Gly) c.5630T>G (p.Val1877Gly) | |
| 6 | g.129465225C>A | CA451926466 | LAMA2 | c.7236C>A (p.Val2412=) c.7500C>A (p.Val2500=) n.867C>A c.7233C>A (p.Val2411=) c.7494C>A (p.Val2498=) c.7506C>A (p.Val2502=) c.5631C>A (p.Val1877=) | |
| 6 | g.129465225C= | CA1663192650 | LAMA2 | c.7236C= (p.Val2412=) c.7500C= (p.Val2500=) n.867C= c.7233C= (p.Val2411=) c.7494C= (p.Val2498=) c.7506C= (p.Val2502=) c.5631C= (p.Val1877=) | |
| 6 | g.129465225C>G | CA451926467 | LAMA2 | c.7236C>G (p.Val2412=) c.7500C>G (p.Val2500=) n.867C>G c.7233C>G (p.Val2411=) c.7494C>G (p.Val2498=) c.7506C>G (p.Val2502=) c.5631C>G (p.Val1877=) | |
| 6 | g.129465225C>T | CA451926468 | LAMA2 | c.7236C>T (p.Val2412=) c.7500C>T (p.Val2500=) n.867C>T c.7233C>T (p.Val2411=) c.7494C>T (p.Val2498=) c.7506C>T (p.Val2502=) c.5631C>T (p.Val1877=) | dbSNP gnomAD v2 |
| 6 | g.129465226A>C | CA365621925 | LAMA2 | c.7237A>C (p.Ser2413Arg) c.7501A>C (p.Ser2501Arg) n.868A>C c.7234A>C (p.Ser2412Arg) c.7495A>C (p.Ser2499Arg) c.7507A>C (p.Ser2503Arg) c.5632A>C (p.Ser1878Arg) | |
| 6 | g.129465226A>G | CA365621927 | LAMA2 | c.7237A>G (p.Ser2413Gly) c.7501A>G (p.Ser2501Gly) n.868A>G c.7234A>G (p.Ser2412Gly) c.7495A>G (p.Ser2499Gly) c.7507A>G (p.Ser2503Gly) c.5632A>G (p.Ser1878Gly) | |
| 6 | g.129465226A>T | CA365621928 | LAMA2 | c.7237A>T (p.Ser2413Cys) c.7501A>T (p.Ser2501Cys) n.868A>T c.7234A>T (p.Ser2412Cys) c.7495A>T (p.Ser2499Cys) c.7507A>T (p.Ser2503Cys) c.5632A>T (p.Ser1878Cys) | |
| 6 | g.129465227G>A | CA365621929 | LAMA2 | c.7238G>A (p.Ser2413Asn) c.7502G>A (p.Ser2501Asn) n.869G>A c.7235G>A (p.Ser2412Asn) c.7496G>A (p.Ser2499Asn) c.7508G>A (p.Ser2503Asn) c.5633G>A (p.Ser1878Asn) | gnomAD v4 |
| 6 | g.129465227G>C | CA365621931 | LAMA2 | c.7238G>C (p.Ser2413Thr) c.7502G>C (p.Ser2501Thr) n.869G>C c.7235G>C (p.Ser2412Thr) c.7496G>C (p.Ser2499Thr) c.7508G>C (p.Ser2503Thr) c.5633G>C (p.Ser1878Thr) | |
| 6 | g.129465227G>T | CA365621935 | LAMA2 | c.7238G>T (p.Ser2413Ile) c.7502G>T (p.Ser2501Ile) n.869G>T c.7235G>T (p.Ser2412Ile) c.7496G>T (p.Ser2499Ile) c.7508G>T (p.Ser2503Ile) c.5633G>T (p.Ser1878Ile) | |
| 6 | g.129465228C>A | CA365621937 | LAMA2 | c.7239C>A (p.Ser2413Arg) c.7503C>A (p.Ser2501Arg) n.870C>A c.7236C>A (p.Ser2412Arg) c.7497C>A (p.Ser2499Arg) c.7509C>A (p.Ser2503Arg) c.5634C>A (p.Ser1878Arg) | |
| 6 | g.129465228C= | CA1663192652 | LAMA2 | c.7239C= (p.Ser2413=) c.7503C= (p.Ser2501=) n.870C= c.7236C= (p.Ser2412=) c.7497C= (p.Ser2499=) c.7509C= (p.Ser2503=) c.5634C= (p.Ser1878=) | |
| 6 | g.129465228C>G | CA365621939 | LAMA2 | c.7239C>G (p.Ser2413Arg) c.7503C>G (p.Ser2501Arg) n.870C>G c.7236C>G (p.Ser2412Arg) c.7497C>G (p.Ser2499Arg) c.7509C>G (p.Ser2503Arg) c.5634C>G (p.Ser1878Arg) | |
| 6 | g.129465228C>T | CA146892163 | LAMA2 | c.7239C>T (p.Ser2413=) c.7503C>T (p.Ser2501=) n.870C>T c.7236C>T (p.Ser2412=) c.7497C>T (p.Ser2499=) c.7509C>T (p.Ser2503=) c.5634C>T (p.Ser1878=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465229A>C | CA365621947 | LAMA2 | c.7240A>C (p.Asn2414His) c.7504A>C (p.Asn2502His) n.871A>C c.7237A>C (p.Asn2413His) c.7498A>C (p.Asn2500His) c.7510A>C (p.Asn2504His) c.5635A>C (p.Asn1879His) | gnomAD v4 |
| 6 | g.129465229A>G | CA365621942 | LAMA2 | c.7240A>G (p.Asn2414Asp) c.7504A>G (p.Asn2502Asp) n.871A>G c.7237A>G (p.Asn2413Asp) c.7498A>G (p.Asn2500Asp) c.7510A>G (p.Asn2504Asp) c.5635A>G (p.Asn1879Asp) | |
| 6 | g.129465229A>T | CA365621945 | LAMA2 | c.7240A>T (p.Asn2414Tyr) c.7504A>T (p.Asn2502Tyr) n.871A>T c.7237A>T (p.Asn2413Tyr) c.7498A>T (p.Asn2500Tyr) c.7510A>T (p.Asn2504Tyr) c.5635A>T (p.Asn1879Tyr) | |
| 6 | g.129465230A= | CA1663192654 | LAMA2 | c.7241A= (p.Asn2414=) c.7505A= (p.Asn2502=) n.872A= c.7238A= (p.Asn2413=) c.7499A= (p.Asn2500=) c.7511A= (p.Asn2504=) c.5636A= (p.Asn1879=) | |
| 6 | g.129465230A>C | CA365621948 | LAMA2 | c.7241A>C (p.Asn2414Thr) c.7505A>C (p.Asn2502Thr) n.872A>C c.7238A>C (p.Asn2413Thr) c.7499A>C (p.Asn2500Thr) c.7511A>C (p.Asn2504Thr) c.5636A>C (p.Asn1879Thr) | |
| 6 | g.129465230A>G | CA146892168 | LAMA2 | c.7241A>G (p.Asn2414Ser) c.7505A>G (p.Asn2502Ser) n.872A>G c.7238A>G (p.Asn2413Ser) c.7499A>G (p.Asn2500Ser) c.7511A>G (p.Asn2504Ser) c.5636A>G (p.Asn1879Ser) | dbSNP |
| 6 | g.129465230A>T | CA365621952 | LAMA2 | c.7241A>T (p.Asn2414Ile) c.7505A>T (p.Asn2502Ile) n.872A>T c.7238A>T (p.Asn2413Ile) c.7499A>T (p.Asn2500Ile) c.7511A>T (p.Asn2504Ile) c.5636A>T (p.Asn1879Ile) | |
| 6 | g.129465231T>A | CA365621955 | LAMA2 | c.7242T>A (p.Asn2414Lys) c.7506T>A (p.Asn2502Lys) n.873T>A c.7239T>A (p.Asn2413Lys) c.7500T>A (p.Asn2500Lys) c.7512T>A (p.Asn2504Lys) c.5637T>A (p.Asn1879Lys) | |
| 6 | g.129465231T>C | CA451926469 | LAMA2 | c.7242T>C (p.Asn2414=) c.7506T>C (p.Asn2502=) n.873T>C c.7239T>C (p.Asn2413=) c.7500T>C (p.Asn2500=) c.7512T>C (p.Asn2504=) c.5637T>C (p.Asn1879=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465231T>G | CA365621957 | LAMA2 | c.7242T>G (p.Asn2414Lys) c.7506T>G (p.Asn2502Lys) n.873T>G c.7239T>G (p.Asn2413Lys) c.7500T>G (p.Asn2500Lys) c.7512T>G (p.Asn2504Lys) c.5637T>G (p.Asn1879Lys) | |
| 6 | g.129465231T= | CA1663192656 | LAMA2 | c.7242T= (p.Asn2414=) c.7506T= (p.Asn2502=) n.873T= c.7239T= (p.Asn2413=) c.7500T= (p.Asn2500=) c.7512T= (p.Asn2504=) c.5637T= (p.Asn1879=) | |
| 6 | g.129465232C>A | CA365621962 | LAMA2 | c.7243C>A (p.Gln2415Lys) c.7507C>A (p.Gln2503Lys) n.874C>A c.7240C>A (p.Gln2414Lys) c.7501C>A (p.Gln2501Lys) c.7513C>A (p.Gln2505Lys) c.5638C>A (p.Gln1880Lys) | gnomAD v4 |
| 6 | g.129465232C>G | CA365621960 | LAMA2 | c.7243C>G (p.Gln2415Glu) c.7507C>G (p.Gln2503Glu) n.874C>G c.7240C>G (p.Gln2414Glu) c.7501C>G (p.Gln2501Glu) c.7513C>G (p.Gln2505Glu) c.5638C>G (p.Gln1880Glu) | |
| 6 | g.129465232C>T | CA365621959 | LAMA2 | c.7243C>T (p.Gln2415Ter) c.7507C>T (p.Gln2503Ter) n.874C>T c.7240C>T (p.Gln2414Ter) c.7501C>T (p.Gln2501Ter) c.7513C>T (p.Gln2505Ter) c.5638C>T (p.Gln1880Ter) | |
| 6 | g.129465233A= | CA1663192658 | LAMA2 | c.7244A= (p.Gln2415=) c.7508A= (p.Gln2503=) n.875A= c.7241A= (p.Gln2414=) c.7502A= (p.Gln2501=) c.7514A= (p.Gln2505=) c.5639A= (p.Gln1880=) | |
| 6 | g.129465233A>C | CA365621964 | LAMA2 | c.7244A>C (p.Gln2415Pro) c.7508A>C (p.Gln2503Pro) n.875A>C c.7241A>C (p.Gln2414Pro) c.7502A>C (p.Gln2501Pro) c.7514A>C (p.Gln2505Pro) c.5639A>C (p.Gln1880Pro) | |
| 6 | g.129465233A>G | CA3994491 | LAMA2 | c.7244A>G (p.Gln2415Arg) c.7508A>G (p.Gln2503Arg) n.875A>G c.7241A>G (p.Gln2414Arg) c.7502A>G (p.Gln2501Arg) c.7514A>G (p.Gln2505Arg) c.5639A>G (p.Gln1880Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.129465233A>T | CA365621966 | LAMA2 | c.7244A>T (p.Gln2415Leu) c.7508A>T (p.Gln2503Leu) n.875A>T c.7241A>T (p.Gln2414Leu) c.7502A>T (p.Gln2501Leu) c.7514A>T (p.Gln2505Leu) c.5639A>T (p.Gln1880Leu) | |
| 6 | g.129465234A= | CA1663192660 | LAMA2 | c.7245A= (p.Gln2415=) c.7509A= (p.Gln2503=) n.876A= c.7242A= (p.Gln2414=) c.7503A= (p.Gln2501=) c.7515A= (p.Gln2505=) c.5640A= (p.Gln1880=) | |
| 6 | g.129465234A>C | CA365621967 | LAMA2 | c.7245A>C (p.Gln2415His) c.7509A>C (p.Gln2503His) n.876A>C c.7242A>C (p.Gln2414His) c.7503A>C (p.Gln2501His) c.7515A>C (p.Gln2505His) c.5640A>C (p.Gln1880His) | ClinVar dbSNP |
| 6 | g.129465234A>G | CA146892178 | LAMA2 | c.7245A>G (p.Gln2415=) c.7509A>G (p.Gln2503=) n.876A>G c.7242A>G (p.Gln2414=) c.7503A>G (p.Gln2501=) c.7515A>G (p.Gln2505=) c.5640A>G (p.Gln1880=) | dbSNP |
| 6 | g.129465234A>T | CA365621970 | LAMA2 | c.7245A>T (p.Gln2415His) c.7509A>T (p.Gln2503His) n.876A>T c.7242A>T (p.Gln2414His) c.7503A>T (p.Gln2501His) c.7515A>T (p.Gln2505His) c.5640A>T (p.Gln1880His) | |
| 6 | g.129465235A>C | CA365621976 | LAMA2 | c.7246A>C (p.Asn2416His) c.7510A>C (p.Asn2504His) n.877A>C c.7243A>C (p.Asn2415His) c.7504A>C (p.Asn2502His) c.7516A>C (p.Asn2506His) c.5641A>C (p.Asn1881His) | |
| 6 | g.129465235A>G | CA365621972 | LAMA2 | c.7246A>G (p.Asn2416Asp) c.7510A>G (p.Asn2504Asp) n.877A>G c.7243A>G (p.Asn2415Asp) c.7504A>G (p.Asn2502Asp) c.7516A>G (p.Asn2506Asp) c.5641A>G (p.Asn1881Asp) | |
| 6 | g.129465235A>T | CA365621973 | LAMA2 | c.7246A>T (p.Asn2416Tyr) c.7510A>T (p.Asn2504Tyr) n.877A>T c.7243A>T (p.Asn2415Tyr) c.7504A>T (p.Asn2502Tyr) c.7516A>T (p.Asn2506Tyr) c.5641A>T (p.Asn1881Tyr) | |
| 6 | g.129465236A>C | CA365621977 | LAMA2 | c.7247A>C (p.Asn2416Thr) c.7511A>C (p.Asn2504Thr) n.878A>C c.7244A>C (p.Asn2415Thr) c.7505A>C (p.Asn2502Thr) c.7517A>C (p.Asn2506Thr) c.5642A>C (p.Asn1881Thr) | |
| 6 | g.129465236A>G | CA365621978 | LAMA2 | c.7247A>G (p.Asn2416Ser) c.7511A>G (p.Asn2504Ser) n.878A>G c.7244A>G (p.Asn2415Ser) c.7505A>G (p.Asn2502Ser) c.7517A>G (p.Asn2506Ser) c.5642A>G (p.Asn1881Ser) | |
| 6 | g.129465236A>T | CA365621980 | LAMA2 | c.7247A>T (p.Asn2416Ile) c.7511A>T (p.Asn2504Ile) n.878A>T c.7244A>T (p.Asn2415Ile) c.7505A>T (p.Asn2502Ile) c.7517A>T (p.Asn2506Ile) c.5642A>T (p.Asn1881Ile) | |
| 6 | g.129465237C>A | CA365621988 | LAMA2 | c.7248C>A (p.Asn2416Lys) c.7512C>A (p.Asn2504Lys) n.879C>A c.7245C>A (p.Asn2415Lys) c.7506C>A (p.Asn2502Lys) c.7518C>A (p.Asn2506Lys) c.5643C>A (p.Asn1881Lys) | |
| 6 | g.129465237C>G | CA365621993 | LAMA2 | c.7248C>G (p.Asn2416Lys) c.7512C>G (p.Asn2504Lys) n.879C>G c.7245C>G (p.Asn2415Lys) c.7506C>G (p.Asn2502Lys) c.7518C>G (p.Asn2506Lys) c.5643C>G (p.Asn1881Lys) | |
| 6 | g.129465237C>T | CA451926470 | LAMA2 | c.7248C>T (p.Asn2416=) c.7512C>T (p.Asn2504=) n.879C>T c.7245C>T (p.Asn2415=) c.7506C>T (p.Asn2502=) c.7518C>T (p.Asn2506=) c.5643C>T (p.Asn1881=) | gnomAD v4 |
| 6 | g.129465238C>A | CA365621995 | LAMA2 | c.7249C>A (p.His2417Asn) c.7513C>A (p.His2505Asn) n.880C>A c.7246C>A (p.His2416Asn) c.7507C>A (p.His2503Asn) c.7519C>A (p.His2507Asn) c.5644C>A (p.His1882Asn) | |
| 6 | g.129465238C>G | CA365621996 | LAMA2 | c.7249C>G (p.His2417Asp) c.7513C>G (p.His2505Asp) n.880C>G c.7246C>G (p.His2416Asp) c.7507C>G (p.His2503Asp) c.7519C>G (p.His2507Asp) c.5644C>G (p.His1882Asp) | gnomAD v3 gnomAD v4 |
| 6 | g.129465238C>T | CA365621998 | LAMA2 | c.7249C>T (p.His2417Tyr) c.7513C>T (p.His2505Tyr) n.880C>T c.7246C>T (p.His2416Tyr) c.7507C>T (p.His2503Tyr) c.7519C>T (p.His2507Tyr) c.5644C>T (p.His1882Tyr) | |
| 6 | g.129465239A= | CA1663192662 | LAMA2 | c.7250A= (p.His2417=) c.7514A= (p.His2505=) n.881A= c.7247A= (p.His2416=) c.7508A= (p.His2503=) c.7520A= (p.His2507=) c.5645A= (p.His1882=) | |
| 6 | g.129465239A>C | CA365622000 | LAMA2 | c.7250A>C (p.His2417Pro) c.7514A>C (p.His2505Pro) n.881A>C c.7247A>C (p.His2416Pro) c.7508A>C (p.His2503Pro) c.7520A>C (p.His2507Pro) c.5645A>C (p.His1882Pro) | |
| 6 | g.129465239A>G | CA295398 | LAMA2 | c.7250A>G (p.His2417Arg) c.7514A>G (p.His2505Arg) n.881A>G c.7247A>G (p.His2416Arg) c.7508A>G (p.His2503Arg) c.7520A>G (p.His2507Arg) c.5645A>G (p.His1882Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465239A>T | CA365622004 | LAMA2 | c.7250A>T (p.His2417Leu) c.7514A>T (p.His2505Leu) n.881A>T c.7247A>T (p.His2416Leu) c.7508A>T (p.His2503Leu) c.7520A>T (p.His2507Leu) c.5645A>T (p.His1882Leu) | |
| 6 | g.129465240T>A | CA365622007 | LAMA2 | c.7251T>A (p.His2417Gln) c.7515T>A (p.His2505Gln) n.882T>A c.7248T>A (p.His2416Gln) c.7509T>A (p.His2503Gln) c.7521T>A (p.His2507Gln) c.5646T>A (p.His1882Gln) | |
| 6 | g.129465240T>C | CA451926471 | LAMA2 | c.7251T>C (p.His2417=) c.7515T>C (p.His2505=) n.882T>C c.7248T>C (p.His2416=) c.7509T>C (p.His2503=) c.7521T>C (p.His2507=) c.5646T>C (p.His1882=) | ClinVar |
| 6 | g.129465240T>G | CA365622010 | LAMA2 | c.7251T>G (p.His2417Gln) c.7515T>G (p.His2505Gln) n.882T>G c.7248T>G (p.His2416Gln) c.7509T>G (p.His2503Gln) c.7521T>G (p.His2507Gln) c.5646T>G (p.His1882Gln) | |
| 6 | g.129465241A>C | CA365622017 | LAMA2 | c.7252A>C (p.Asn2418His) c.7516A>C (p.Asn2506His) n.883A>C c.7249A>C (p.Asn2417His) c.7510A>C (p.Asn2504His) c.7522A>C (p.Asn2508His) c.5647A>C (p.Asn1883His) | |
| 6 | g.129465241A>G | CA365622013 | LAMA2 | c.7252A>G (p.Asn2418Asp) c.7516A>G (p.Asn2506Asp) n.883A>G c.7249A>G (p.Asn2417Asp) c.7510A>G (p.Asn2504Asp) c.7522A>G (p.Asn2508Asp) c.5647A>G (p.Asn1883Asp) | |
| 6 | g.129465241A>T | CA365622015 | LAMA2 | c.7252A>T (p.Asn2418Tyr) c.7516A>T (p.Asn2506Tyr) n.883A>T c.7249A>T (p.Asn2417Tyr) c.7510A>T (p.Asn2504Tyr) c.7522A>T (p.Asn2508Tyr) c.5647A>T (p.Asn1883Tyr) | |
| 6 | g.129465241_129465242insCACACCCAACAC | CA2773038003 | LAMA2 | c.7252_7253insCACACCCAACAC (p.Asn2418delinsThrHisProThrHis) c.7516_7517insCACACCCAACAC (p.Asn2506delinsThrHisProThrHis) n.883_884insCACACCCAACAC c.7249_7250insCACACCCAACAC (p.Asn2417delinsThrHisProThrHis) c.7510_7511insCACACCCAACAC (p.Asn2504delinsThrHisProThrHis) c.7522_7523insCACACCCAACAC (p.Asn2508delinsThrHisProThrHis) c.5647_5648insCACACCCAACAC (p.Asn1883delinsThrHisProThrHis) | |
| 6 | g.129465242A>C | CA365622018 | LAMA2 | c.7253A>C (p.Asn2418Thr) c.7517A>C (p.Asn2506Thr) n.884A>C c.7250A>C (p.Asn2417Thr) c.7511A>C (p.Asn2504Thr) c.7523A>C (p.Asn2508Thr) c.5648A>C (p.Asn1883Thr) | |
| 6 | g.129465242A>G | CA365622019 | LAMA2 | c.7253A>G (p.Asn2418Ser) c.7517A>G (p.Asn2506Ser) n.884A>G c.7250A>G (p.Asn2417Ser) c.7511A>G (p.Asn2504Ser) c.7523A>G (p.Asn2508Ser) c.5648A>G (p.Asn1883Ser) | |
| 6 | g.129465242A>T | CA365622020 | LAMA2 | c.7253A>T (p.Asn2418Ile) c.7517A>T (p.Asn2506Ile) n.884A>T c.7250A>T (p.Asn2417Ile) c.7511A>T (p.Asn2504Ile) c.7523A>T (p.Asn2508Ile) c.5648A>T (p.Asn1883Ile) | |
| 6 | g.129465243T>A | CA365622022 | LAMA2 | c.7254T>A (p.Asn2418Lys) c.7518T>A (p.Asn2506Lys) n.885T>A c.7251T>A (p.Asn2417Lys) c.7512T>A (p.Asn2504Lys) c.7524T>A (p.Asn2508Lys) c.5649T>A (p.Asn1883Lys) | |
| 6 | g.129465243T>C | CA3994492 | LAMA2 | c.7254T>C (p.Asn2418=) c.7518T>C (p.Asn2506=) n.885T>C c.7251T>C (p.Asn2417=) c.7512T>C (p.Asn2504=) c.7524T>C (p.Asn2508=) c.5649T>C (p.Asn1883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129465243T>G | CA365622027 | LAMA2 | c.7254T>G (p.Asn2418Lys) c.7518T>G (p.Asn2506Lys) n.885T>G c.7251T>G (p.Asn2417Lys) c.7512T>G (p.Asn2504Lys) c.7524T>G (p.Asn2508Lys) c.5649T>G (p.Asn1883Lys) | |
| 6 | g.129465243T= | CA1663192668 | LAMA2 | c.7254T= (p.Asn2418=) c.7518T= (p.Asn2506=) n.885T= c.7251T= (p.Asn2417=) c.7512T= (p.Asn2504=) c.7524T= (p.Asn2508=) c.5649T= (p.Asn1883=) | |
| 6 | g.129465244G>A | CA365622034 | LAMA2 | c.7255G>A (p.Asp2419Asn) c.7519G>A (p.Asp2507Asn) n.886G>A c.7252G>A (p.Asp2418Asn) c.7513G>A (p.Asp2505Asn) c.7525G>A (p.Asp2509Asn) c.5650G>A (p.Asp1884Asn) | |
| 6 | g.129465244G>C | CA365622030 | LAMA2 | c.7255G>C (p.Asp2419His) c.7519G>C (p.Asp2507His) n.886G>C c.7252G>C (p.Asp2418His) c.7513G>C (p.Asp2505His) c.7525G>C (p.Asp2509His) c.5650G>C (p.Asp1884His) | |
| 6 | g.129465244G>T | CA365622031 | LAMA2 | c.7255G>T (p.Asp2419Tyr) c.7519G>T (p.Asp2507Tyr) n.886G>T c.7252G>T (p.Asp2418Tyr) c.7513G>T (p.Asp2505Tyr) c.7525G>T (p.Asp2509Tyr) c.5650G>T (p.Asp1884Tyr) | |
| 6 | g.129465245A= | CA1663192670 | LAMA2 | c.7256A= (p.Asp2419=) c.7520A= (p.Asp2507=) n.887A= c.7253A= (p.Asp2418=) c.7514A= (p.Asp2505=) c.7526A= (p.Asp2509=) c.5651A= (p.Asp1884=) | |
| 6 | g.129465245A>C | CA365622037 | LAMA2 | c.7256A>C (p.Asp2419Ala) c.7520A>C (p.Asp2507Ala) n.887A>C c.7253A>C (p.Asp2418Ala) c.7514A>C (p.Asp2505Ala) c.7526A>C (p.Asp2509Ala) c.5651A>C (p.Asp1884Ala) | |
| 6 | g.129465245A>G | CA365622039 | LAMA2 | c.7256A>G (p.Asp2419Gly) c.7520A>G (p.Asp2507Gly) n.887A>G c.7253A>G (p.Asp2418Gly) c.7514A>G (p.Asp2505Gly) c.7526A>G (p.Asp2509Gly) c.5651A>G (p.Asp1884Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465245A>T | CA365622041 | LAMA2 | c.7256A>T (p.Asp2419Val) c.7520A>T (p.Asp2507Val) n.887A>T c.7253A>T (p.Asp2418Val) c.7514A>T (p.Asp2505Val) c.7526A>T (p.Asp2509Val) c.5651A>T (p.Asp1884Val) | COSMIC |
| 6 | g.129465246T>A | CA365622044 | LAMA2 | c.7257T>A (p.Asp2419Glu) c.7521T>A (p.Asp2507Glu) n.888T>A c.7254T>A (p.Asp2418Glu) c.7515T>A (p.Asp2505Glu) c.7527T>A (p.Asp2509Glu) c.5652T>A (p.Asp1884Glu) | |
| 6 | g.129465246T>C | CA451926472 | LAMA2 | c.7257T>C (p.Asp2419=) c.7521T>C (p.Asp2507=) n.888T>C c.7254T>C (p.Asp2418=) c.7515T>C (p.Asp2505=) c.7527T>C (p.Asp2509=) c.5652T>C (p.Asp1884=) | |
| 6 | g.129465246T>G | CA365622046 | LAMA2 | c.7257T>G (p.Asp2419Glu) c.7521T>G (p.Asp2507Glu) n.888T>G c.7254T>G (p.Asp2418Glu) c.7515T>G (p.Asp2505Glu) c.7527T>G (p.Asp2509Glu) c.5652T>G (p.Asp1884Glu) | |
| 6 | g.129465247G>A | CA365622049 | LAMA2 | c.7258G>A (p.Gly2420Arg) c.7522G>A (p.Gly2508Arg) n.889G>A c.7255G>A (p.Gly2419Arg) c.7516G>A (p.Gly2506Arg) c.7528G>A (p.Gly2510Arg) c.5653G>A (p.Gly1885Arg) | |
| 6 | g.129465247G>C | CA365622054 | LAMA2 | c.7258G>C (p.Gly2420Arg) c.7522G>C (p.Gly2508Arg) n.889G>C c.7255G>C (p.Gly2419Arg) c.7516G>C (p.Gly2506Arg) c.7528G>C (p.Gly2510Arg) c.5653G>C (p.Gly1885Arg) | |
| 6 | g.129465247G>T | CA365622051 | LAMA2 | c.7258G>T (p.Gly2420Trp) c.7522G>T (p.Gly2508Trp) n.889G>T c.7255G>T (p.Gly2419Trp) c.7516G>T (p.Gly2506Trp) c.7528G>T (p.Gly2510Trp) c.5653G>T (p.Gly1885Trp) | |
| 6 | g.129465248G>A | CA365622057 | LAMA2 | c.7259G>A (p.Gly2420Glu) c.7523G>A (p.Gly2508Glu) n.890G>A c.7256G>A (p.Gly2419Glu) c.7517G>A (p.Gly2506Glu) c.7529G>A (p.Gly2510Glu) c.5654G>A (p.Gly1885Glu) | |
| 6 | g.129465248G>C | CA365622059 | LAMA2 | c.7259G>C (p.Gly2420Ala) c.7523G>C (p.Gly2508Ala) n.890G>C c.7256G>C (p.Gly2419Ala) c.7517G>C (p.Gly2506Ala) c.7529G>C (p.Gly2510Ala) c.5654G>C (p.Gly1885Ala) | |
| 6 | g.129465248G>T | CA365622063 | LAMA2 | c.7259G>T (p.Gly2420Val) c.7523G>T (p.Gly2508Val) n.890G>T c.7256G>T (p.Gly2419Val) c.7517G>T (p.Gly2506Val) c.7529G>T (p.Gly2510Val) c.5654G>T (p.Gly1885Val) | |
| 6 | g.129465249G>A | CA451926473 | LAMA2 | c.7260G>A (p.Gly2420=) c.7524G>A (p.Gly2508=) n.891G>A c.7257G>A (p.Gly2419=) c.7518G>A (p.Gly2506=) c.7530G>A (p.Gly2510=) c.5655G>A (p.Gly1885=) | |
| 6 | g.129465249G>C | CA451926475 | LAMA2 | c.7260G>C (p.Gly2420=) c.7524G>C (p.Gly2508=) n.891G>C c.7257G>C (p.Gly2419=) c.7518G>C (p.Gly2506=) c.7530G>C (p.Gly2510=) c.5655G>C (p.Gly1885=) | |
| 6 | g.129465249G>T | CA451926474 | LAMA2 | c.7260G>T (p.Gly2420=) c.7524G>T (p.Gly2508=) n.891G>T c.7257G>T (p.Gly2419=) c.7518G>T (p.Gly2506=) c.7530G>T (p.Gly2510=) c.5655G>T (p.Gly1885=) | |
| 6 | g.129465250A>C | CA365622065 | LAMA2 | c.7261A>C (p.Lys2421Gln) c.7525A>C (p.Lys2509Gln) n.892A>C c.7258A>C (p.Lys2420Gln) c.7519A>C (p.Lys2507Gln) c.7531A>C (p.Lys2511Gln) c.5656A>C (p.Lys1886Gln) | |
| 6 | g.129465250A>G | CA365622066 | LAMA2 | c.7261A>G (p.Lys2421Glu) c.7525A>G (p.Lys2509Glu) n.892A>G c.7258A>G (p.Lys2420Glu) c.7519A>G (p.Lys2507Glu) c.7531A>G (p.Lys2511Glu) c.5656A>G (p.Lys1886Glu) | |
| 6 | g.129465250A>T | CA365622068 | LAMA2 | c.7261A>T (p.Lys2421Ter) c.7525A>T (p.Lys2509Ter) n.892A>T c.7258A>T (p.Lys2420Ter) c.7519A>T (p.Lys2507Ter) c.7531A>T (p.Lys2511Ter) c.5656A>T (p.Lys1886Ter) | |
| 6 | g.129465251A= | CA1663192673 | LAMA2 | c.7262A= (p.Lys2421=) c.7526A= (p.Lys2509=) n.893A= c.7259A= (p.Lys2420=) c.7520A= (p.Lys2507=) c.7532A= (p.Lys2511=) c.5657A= (p.Lys1886=) | |
| 6 | g.129465251A>C | CA365622073 | LAMA2 | c.7262A>C (p.Lys2421Thr) c.7526A>C (p.Lys2509Thr) n.893A>C c.7259A>C (p.Lys2420Thr) c.7520A>C (p.Lys2507Thr) c.7532A>C (p.Lys2511Thr) c.5657A>C (p.Lys1886Thr) | |
| 6 | g.129465251A>G | CA365622074 | LAMA2 | c.7262A>G (p.Lys2421Arg) c.7526A>G (p.Lys2509Arg) n.893A>G c.7259A>G (p.Lys2420Arg) c.7520A>G (p.Lys2507Arg) c.7532A>G (p.Lys2511Arg) c.5657A>G (p.Lys1886Arg) | ClinVar dbSNP |
| 6 | g.129465251A>T | CA365622076 | LAMA2 | c.7262A>T (p.Lys2421Ile) c.7526A>T (p.Lys2509Ile) n.893A>T c.7259A>T (p.Lys2420Ile) c.7520A>T (p.Lys2507Ile) c.7532A>T (p.Lys2511Ile) c.5657A>T (p.Lys1886Ile) | |
| 6 | g.129465252A>C | CA365622078 | LAMA2 | c.7263A>C (p.Lys2421Asn) c.7527A>C (p.Lys2509Asn) n.894A>C c.7260A>C (p.Lys2420Asn) c.7521A>C (p.Lys2507Asn) c.7533A>C (p.Lys2511Asn) c.5658A>C (p.Lys1886Asn) | |
| 6 | g.129465252A>G | CA451926476 | LAMA2 | c.7263A>G (p.Lys2421=) c.7527A>G (p.Lys2509=) n.894A>G c.7260A>G (p.Lys2420=) c.7521A>G (p.Lys2507=) c.7533A>G (p.Lys2511=) c.5658A>G (p.Lys1886=) | gnomAD v4 |
| 6 | g.129465252A>T | CA365622081 | LAMA2 | c.7263A>T (p.Lys2421Asn) c.7527A>T (p.Lys2509Asn) n.894A>T c.7260A>T (p.Lys2420Asn) c.7521A>T (p.Lys2507Asn) c.7533A>T (p.Lys2511Asn) c.5658A>T (p.Lys1886Asn) | |
| 6 | g.129465253T>A | CA365622084 | LAMA2 | c.7264T>A (p.Trp2422Arg) c.7528T>A (p.Trp2510Arg) n.895T>A c.7261T>A (p.Trp2421Arg) c.7522T>A (p.Trp2508Arg) c.7534T>A (p.Trp2512Arg) c.5659T>A (p.Trp1887Arg) | |
| 6 | g.129465253T>C | CA365622090 | LAMA2 | c.7264T>C (p.Trp2422Arg) c.7528T>C (p.Trp2510Arg) n.895T>C c.7261T>C (p.Trp2421Arg) c.7522T>C (p.Trp2508Arg) c.7534T>C (p.Trp2512Arg) c.5659T>C (p.Trp1887Arg) | gnomAD v4 |
| 6 | g.129465253T>G | CA365622086 | LAMA2 | c.7264T>G (p.Trp2422Gly) c.7528T>G (p.Trp2510Gly) n.895T>G c.7261T>G (p.Trp2421Gly) c.7522T>G (p.Trp2508Gly) c.7534T>G (p.Trp2512Gly) c.5659T>G (p.Trp1887Gly) | |
| 6 | g.129465254G>A | CA365622092 | LAMA2 | c.7265G>A (p.Trp2422Ter) c.7529G>A (p.Trp2510Ter) n.896G>A c.7262G>A (p.Trp2421Ter) c.7523G>A (p.Trp2508Ter) c.7535G>A (p.Trp2512Ter) c.5660G>A (p.Trp1887Ter) | ClinVar gnomAD v4 |
| 6 | g.129465254G>C | CA365622095 | LAMA2 | c.7265G>C (p.Trp2422Ser) c.7529G>C (p.Trp2510Ser) n.896G>C c.7262G>C (p.Trp2421Ser) c.7523G>C (p.Trp2508Ser) c.7535G>C (p.Trp2512Ser) c.5660G>C (p.Trp1887Ser) | |
| 6 | g.129465254G>T | CA365622096 | LAMA2 | c.7265G>T (p.Trp2422Leu) c.7529G>T (p.Trp2510Leu) n.896G>T c.7262G>T (p.Trp2421Leu) c.7523G>T (p.Trp2508Leu) c.7535G>T (p.Trp2512Leu) c.5660G>T (p.Trp1887Leu) | |
| 6 | g.129465255G>A | CA365622099 | LAMA2 | c.7266G>A (p.Trp2422Ter) c.7530G>A (p.Trp2510Ter) n.897G>A c.7263G>A (p.Trp2421Ter) c.7524G>A (p.Trp2508Ter) c.7536G>A (p.Trp2512Ter) c.5661G>A (p.Trp1887Ter) | ClinVar dbSNP |
| 6 | g.129465255G>C | CA365622101 | LAMA2 | c.7266G>C (p.Trp2422Cys) c.7530G>C (p.Trp2510Cys) n.897G>C c.7263G>C (p.Trp2421Cys) c.7524G>C (p.Trp2508Cys) c.7536G>C (p.Trp2512Cys) c.5661G>C (p.Trp1887Cys) | |
| 6 | g.129465255G= | CA1663192676 | LAMA2 | c.7266G= (p.Trp2422=) c.7530G= (p.Trp2510=) n.897G= c.7263G= (p.Trp2421=) c.7524G= (p.Trp2508=) c.7536G= (p.Trp2512=) c.5661G= (p.Trp1887=) | |
| 6 | g.129465255G>T | CA365622103 | LAMA2 | c.7266G>T (p.Trp2422Cys) c.7530G>T (p.Trp2510Cys) n.897G>T c.7263G>T (p.Trp2421Cys) c.7524G>T (p.Trp2508Cys) c.7536G>T (p.Trp2512Cys) c.5661G>T (p.Trp1887Cys) | |
| 6 | g.129465256A= | CA1663192678 | LAMA2 | c.7267A= (p.Lys2423=) c.7531A= (p.Lys2511=) n.898A= c.7264A= (p.Lys2422=) c.7525A= (p.Lys2509=) c.7537A= (p.Lys2513=) c.5662A= (p.Lys1888=) | |
| 6 | g.129465256A>C | CA365622104 | LAMA2 | c.7267A>C (p.Lys2423Gln) c.7531A>C (p.Lys2511Gln) n.898A>C c.7264A>C (p.Lys2422Gln) c.7525A>C (p.Lys2509Gln) c.7537A>C (p.Lys2513Gln) c.5662A>C (p.Lys1888Gln) | |
| 6 | g.129465256A>G | CA365622106 | LAMA2 | c.7267A>G (p.Lys2423Glu) c.7531A>G (p.Lys2511Glu) n.898A>G c.7264A>G (p.Lys2422Glu) c.7525A>G (p.Lys2509Glu) c.7537A>G (p.Lys2513Glu) c.5662A>G (p.Lys1888Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465256A>T | CA365622108 | LAMA2 | c.7267A>T (p.Lys2423Ter) c.7531A>T (p.Lys2511Ter) n.898A>T c.7264A>T (p.Lys2422Ter) c.7525A>T (p.Lys2509Ter) c.7537A>T (p.Lys2513Ter) c.5662A>T (p.Lys1888Ter) | |
| 6 | g.129465257A>C | CA365622111 | LAMA2 | c.7268A>C (p.Lys2423Thr) c.7532A>C (p.Lys2511Thr) n.899A>C c.7265A>C (p.Lys2422Thr) c.7526A>C (p.Lys2509Thr) c.7538A>C (p.Lys2513Thr) c.5663A>C (p.Lys1888Thr) | |
| 6 | g.129465257A>G | CA365622113 | LAMA2 | c.7268A>G (p.Lys2423Arg) c.7532A>G (p.Lys2511Arg) n.899A>G c.7265A>G (p.Lys2422Arg) c.7526A>G (p.Lys2509Arg) c.7538A>G (p.Lys2513Arg) c.5663A>G (p.Lys1888Arg) | |
| 6 | g.129465257A>T | CA365622115 | LAMA2 | c.7268A>T (p.Lys2423Ile) c.7532A>T (p.Lys2511Ile) n.899A>T c.7265A>T (p.Lys2422Ile) c.7526A>T (p.Lys2509Ile) c.7538A>T (p.Lys2513Ile) c.5663A>T (p.Lys1888Ile) | |
| 6 | g.129465258A>C | CA365622118 | LAMA2 | c.7269A>C (p.Lys2423Asn) c.7533A>C (p.Lys2511Asn) n.900A>C c.7266A>C (p.Lys2422Asn) c.7527A>C (p.Lys2509Asn) c.7539A>C (p.Lys2513Asn) c.5664A>C (p.Lys1888Asn) | |
| 6 | g.129465258A>G | CA451926477 | LAMA2 | c.7269A>G (p.Lys2423=) c.7533A>G (p.Lys2511=) n.900A>G c.7266A>G (p.Lys2422=) c.7527A>G (p.Lys2509=) c.7539A>G (p.Lys2513=) c.5664A>G (p.Lys1888=) | |
| 6 | g.129465258A>T | CA365622119 | LAMA2 | c.7269A>T (p.Lys2423Asn) c.7533A>T (p.Lys2511Asn) n.900A>T c.7266A>T (p.Lys2422Asn) c.7527A>T (p.Lys2509Asn) c.7539A>T (p.Lys2513Asn) c.5664A>T (p.Lys1888Asn) | |
| 6 | g.129465259T>A | CA365622123 | LAMA2 | c.7270T>A (p.Ser2424Thr) c.7534T>A (p.Ser2512Thr) n.901T>A c.7267T>A (p.Ser2423Thr) c.7528T>A (p.Ser2510Thr) c.7540T>A (p.Ser2514Thr) c.5665T>A (p.Ser1889Thr) | |
| 6 | g.129465259T>C | CA365622122 | LAMA2 | c.7270T>C (p.Ser2424Pro) c.7534T>C (p.Ser2512Pro) n.901T>C c.7267T>C (p.Ser2423Pro) c.7528T>C (p.Ser2510Pro) c.7540T>C (p.Ser2514Pro) c.5665T>C (p.Ser1889Pro) | |
| 6 | g.129465259T>G | CA365622121 | LAMA2 | c.7270T>G (p.Ser2424Ala) c.7534T>G (p.Ser2512Ala) n.901T>G c.7267T>G (p.Ser2423Ala) c.7528T>G (p.Ser2510Ala) c.7540T>G (p.Ser2514Ala) c.5665T>G (p.Ser1889Ala) | |
| 6 | g.129465260C>A | CA365622125 | LAMA2 | c.7271C>A (p.Ser2424Ter) c.7535C>A (p.Ser2512Ter) n.902C>A c.7268C>A (p.Ser2423Ter) c.7529C>A (p.Ser2510Ter) c.7541C>A (p.Ser2514Ter) c.5666C>A (p.Ser1889Ter) | |
| 6 | g.129465260C>G | CA365622127 | LAMA2 | c.7271C>G (p.Ser2424Ter) c.7535C>G (p.Ser2512Ter) n.902C>G c.7268C>G (p.Ser2423Ter) c.7529C>G (p.Ser2510Ter) c.7541C>G (p.Ser2514Ter) c.5666C>G (p.Ser1889Ter) | |
| 6 | g.129465260C>T | CA365622129 | LAMA2 | c.7271C>T (p.Ser2424Leu) c.7535C>T (p.Ser2512Leu) n.902C>T c.7268C>T (p.Ser2423Leu) c.7529C>T (p.Ser2510Leu) c.7541C>T (p.Ser2514Leu) c.5666C>T (p.Ser1889Leu) | |
| 6 | g.129465261A>C | CA451926479 | LAMA2 | c.7272A>C (p.Ser2424=) c.7536A>C (p.Ser2512=) n.903A>C c.7269A>C (p.Ser2423=) c.7530A>C (p.Ser2510=) c.7542A>C (p.Ser2514=) c.5667A>C (p.Ser1889=) | |
| 6 | g.129465261A>G | CA451926480 | LAMA2 | c.7272A>G (p.Ser2424=) c.7536A>G (p.Ser2512=) n.903A>G c.7269A>G (p.Ser2423=) c.7530A>G (p.Ser2510=) c.7542A>G (p.Ser2514=) c.5667A>G (p.Ser1889=) | |
| 6 | g.129465261A>T | CA451926481 | LAMA2 | c.7272A>T (p.Ser2424=) c.7536A>T (p.Ser2512=) n.903A>T c.7269A>T (p.Ser2423=) c.7530A>T (p.Ser2510=) c.7542A>T (p.Ser2514=) c.5667A>T (p.Ser1889=) | |
| 6 | g.129465262T>A | CA365622132 | LAMA2 | c.7273T>A (p.Phe2425Ile) c.7537T>A (p.Phe2513Ile) n.904T>A c.7270T>A (p.Phe2424Ile) c.7531T>A (p.Phe2511Ile) c.7543T>A (p.Phe2515Ile) c.5668T>A (p.Phe1890Ile) | |
| 6 | g.129465262T>C | CA365622134 | LAMA2 | c.7273T>C (p.Phe2425Leu) c.7537T>C (p.Phe2513Leu) n.904T>C c.7270T>C (p.Phe2424Leu) c.7531T>C (p.Phe2511Leu) c.7543T>C (p.Phe2515Leu) c.5668T>C (p.Phe1890Leu) | |
| 6 | g.129465262T>G | CA3994493 | LAMA2 | c.7273T>G (p.Phe2425Val) c.7537T>G (p.Phe2513Val) n.904T>G c.7270T>G (p.Phe2424Val) c.7531T>G (p.Phe2511Val) c.7543T>G (p.Phe2515Val) c.5668T>G (p.Phe1890Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465262T= | CA1663192679 | LAMA2 | c.7273T= (p.Phe2425=) c.7537T= (p.Phe2513=) n.904T= c.7270T= (p.Phe2424=) c.7531T= (p.Phe2511=) c.7543T= (p.Phe2515=) c.5668T= (p.Phe1890=) | |
| 6 | g.129465263T>A | CA365622137 | LAMA2 | c.7274T>A (p.Phe2425Tyr) c.7538T>A (p.Phe2513Tyr) n.905T>A c.7271T>A (p.Phe2424Tyr) c.7532T>A (p.Phe2511Tyr) c.7544T>A (p.Phe2515Tyr) c.5669T>A (p.Phe1890Tyr) | |
| 6 | g.129465263T>C | CA365622139 | LAMA2 | c.7274T>C (p.Phe2425Ser) c.7538T>C (p.Phe2513Ser) n.905T>C c.7271T>C (p.Phe2424Ser) c.7532T>C (p.Phe2511Ser) c.7544T>C (p.Phe2515Ser) c.5669T>C (p.Phe1890Ser) | |
| 6 | g.129465263T>G | CA365622140 | LAMA2 | c.7274T>G (p.Phe2425Cys) c.7538T>G (p.Phe2513Cys) n.905T>G c.7271T>G (p.Phe2424Cys) c.7532T>G (p.Phe2511Cys) c.7544T>G (p.Phe2515Cys) c.5669T>G (p.Phe1890Cys) | |
| 6 | g.129465264C>A | CA365622142 | LAMA2 | c.7275C>A (p.Phe2425Leu) c.7539C>A (p.Phe2513Leu) n.906C>A c.7272C>A (p.Phe2424Leu) c.7533C>A (p.Phe2511Leu) c.7545C>A (p.Phe2515Leu) c.5670C>A (p.Phe1890Leu) | COSMIC |
| 6 | g.129465264C>G | CA365622143 | LAMA2 | c.7275C>G (p.Phe2425Leu) c.7539C>G (p.Phe2513Leu) n.906C>G c.7272C>G (p.Phe2424Leu) c.7533C>G (p.Phe2511Leu) c.7545C>G (p.Phe2515Leu) c.5670C>G (p.Phe1890Leu) | |
| 6 | g.129465264C>T | CA451926482 | LAMA2 | c.7275C>T (p.Phe2425=) c.7539C>T (p.Phe2513=) n.906C>T c.7272C>T (p.Phe2424=) c.7533C>T (p.Phe2511=) c.7545C>T (p.Phe2515=) c.5670C>T (p.Phe1890=) | |
| 6 | g.129465265A>C | CA365622145 | LAMA2 | c.7276A>C (p.Thr2426Pro) c.7540A>C (p.Thr2514Pro) n.907A>C c.7273A>C (p.Thr2425Pro) c.7534A>C (p.Thr2512Pro) c.7546A>C (p.Thr2516Pro) c.5671A>C (p.Thr1891Pro) | |
| 6 | g.129465265A>G | CA365622146 | LAMA2 | c.7276A>G (p.Thr2426Ala) c.7540A>G (p.Thr2514Ala) n.907A>G c.7273A>G (p.Thr2425Ala) c.7534A>G (p.Thr2512Ala) c.7546A>G (p.Thr2516Ala) c.5671A>G (p.Thr1891Ala) | |
| 6 | g.129465265A>T | CA365622150 | LAMA2 | c.7276A>T (p.Thr2426Ser) c.7540A>T (p.Thr2514Ser) n.907A>T c.7273A>T (p.Thr2425Ser) c.7534A>T (p.Thr2512Ser) c.7546A>T (p.Thr2516Ser) c.5671A>T (p.Thr1891Ser) | |
| 6 | g.129465265_129465267delinsACT | CA1663192682 | LAMA2 | c.7276_7278delinsACT (p.Thr2426=) c.7540_7542delinsACT (p.Thr2514=) n.907_909delinsACT c.7273_7275delinsACT (p.Thr2425=) c.7534_7536delinsACT (p.Thr2512=) c.7546_7548delinsACT (p.Thr2516=) c.5671_5673delinsACT (p.Thr1891=) | |
| 6 | g.129465266C>A | CA365622153 | LAMA2 | c.7277C>A (p.Thr2426Asn) c.7541C>A (p.Thr2514Asn) n.908C>A c.7274C>A (p.Thr2425Asn) c.7535C>A (p.Thr2512Asn) c.7547C>A (p.Thr2516Asn) c.5672C>A (p.Thr1891Asn) | |
| 6 | g.129465266C= | CA1663192688 | LAMA2 | c.7277C= (p.Thr2426=) c.7541C= (p.Thr2514=) n.908C= c.7274C= (p.Thr2425=) c.7535C= (p.Thr2512=) c.7547C= (p.Thr2516=) c.5672C= (p.Thr1891=) | |
| 6 | g.129465266C>G | CA365622154 | LAMA2 | c.7277C>G (p.Thr2426Ser) c.7541C>G (p.Thr2514Ser) n.908C>G c.7274C>G (p.Thr2425Ser) c.7535C>G (p.Thr2512Ser) c.7547C>G (p.Thr2516Ser) c.5672C>G (p.Thr1891Ser) | |
| 6 | g.129465266C>T | CA365622156 | LAMA2 | c.7277C>T (p.Thr2426Ile) c.7541C>T (p.Thr2514Ile) n.908C>T c.7274C>T (p.Thr2425Ile) c.7535C>T (p.Thr2512Ile) c.7547C>T (p.Thr2516Ile) c.5672C>T (p.Thr1891Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465268_129465269del | CA220801 | LAMA2 | c.7279_7280del (p.Leu2427ValfsTer17) c.7543_7544del (p.Leu2515ValfsTer17) n.910_911del c.7276_7277del (p.Leu2426ValfsTer17) c.7537_7538del (p.Leu2513ValfsTer17) c.7549_7550del (p.Leu2517ValfsTer17) c.5674_5675del (p.Leu1892ValfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |