| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99870863C>A | CA182331157 | VPS13B | c.*640C>A (n.*640C>A) n.11616C>A c.*7228C>A (n.*7228C>A) c.11471C>A (p.Pro3824Gln) c.11546C>A (p.Pro3849Gln) n.488C>A c.11543C>A (p.Pro3848Gln) c.11468C>A (p.Pro3823Gln) c.11168C>A (p.Pro3723Gln) c.8432C>A (p.Pro2811Gln) c.7325C>A (p.Pro2442Gln) c.11351C>A (p.Pro3784Gln) c.7103C>A (p.Pro2368Gln) c.10331C>A (p.Pro3444Gln) | dbSNP |
| 8 | g.99870863C>G | CA371793705 | VPS13B | c.*640C>G (n.*640C>G) n.11616C>G c.*7228C>G (n.*7228C>G) c.11471C>G (p.Pro3824Arg) c.11546C>G (p.Pro3849Arg) n.488C>G c.11543C>G (p.Pro3848Arg) c.11468C>G (p.Pro3823Arg) c.11168C>G (p.Pro3723Arg) c.8432C>G (p.Pro2811Arg) c.7325C>G (p.Pro2442Arg) c.11351C>G (p.Pro3784Arg) c.7103C>G (p.Pro2368Arg) c.10331C>G (p.Pro3444Arg) | |
| 8 | g.99870863C>T | CA371793706 | VPS13B | c.*640C>T (n.*640C>T) n.11616C>T c.*7228C>T (n.*7228C>T) c.11471C>T (p.Pro3824Leu) c.11546C>T (p.Pro3849Leu) n.488C>T c.11543C>T (p.Pro3848Leu) c.11468C>T (p.Pro3823Leu) c.11168C>T (p.Pro3723Leu) c.8432C>T (p.Pro2811Leu) c.7325C>T (p.Pro2442Leu) c.11351C>T (p.Pro3784Leu) c.7103C>T (p.Pro2368Leu) c.10331C>T (p.Pro3444Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99870863_99870866delinsTGT | CA16041277 | VPS13B | c.*640_*643delinsTGT (n.*640_*643delinsTGT) n.11616_11619delinsTGT c.*7228_*7231delinsTGT (n.*7228_*7231delinsTGT) c.11471_11474delinsTGT (p.Pro3824LeufsTer29) c.11546_11549delinsTGT (p.Pro3849LeufsTer29) n.488_491delinsTGT c.11543_11546delinsTGT (p.Pro3848LeufsTer29) c.11468_11471delinsTGT (p.Pro3823LeufsTer29) c.11168_11171delinsTGT (p.Pro3723LeufsTer29) c.8432_8435delinsTGT (p.Pro2811LeufsTer29) c.7325_7328delinsTGT (p.Pro2442LeufsTer29) c.11351_11354delinsTGT (p.Pro3784LeufsTer29) c.7103_7106delinsTGT (p.Pro2368LeufsTer29) c.10331_10334delinsTGT (p.Pro3444LeufsTer29) | ClinVar dbSNP |
| 8 | g.99870865_99870868del | CA2573143505 | VPS13B | c.*642_*645del (n.*642_*645del) n.11618_11621del c.*7230_*7233del (n.*7230_*7233del) c.11473_11476del (p.Asn3825AlafsTer27) c.11548_11551del (p.Asn3850AlafsTer27) n.490_493del c.11545_11548del (p.Asn3849AlafsTer27) c.11470_11473del (p.Asn3824AlafsTer27) c.11170_11173del (p.Asn3724AlafsTer27) c.8434_8437del (p.Asn2812AlafsTer27) c.7327_7330del (p.Asn2443AlafsTer27) c.11353_11356del (p.Asn3785AlafsTer27) c.7105_7108del (p.Asn2369AlafsTer27) c.10333_10336del (p.Asn3445AlafsTer27) | ClinVar dbSNP |
| 8 | g.99870864A>C | CA462339727 | VPS13B | c.*641A>C (n.*641A>C) n.11617A>C c.*7229A>C (n.*7229A>C) c.11472A>C (p.Pro3824=) c.11547A>C (p.Pro3849=) n.489A>C c.11544A>C (p.Pro3848=) c.11469A>C (p.Pro3823=) c.11169A>C (p.Pro3723=) c.8433A>C (p.Pro2811=) c.7326A>C (p.Pro2442=) c.11352A>C (p.Pro3784=) c.7104A>C (p.Pro2368=) c.10332A>C (p.Pro3444=) | |
| 8 | g.99870864A>G | CA462339724 | VPS13B | c.*641A>G (n.*641A>G) n.11617A>G c.*7229A>G (n.*7229A>G) c.11472A>G (p.Pro3824=) c.11547A>G (p.Pro3849=) n.489A>G c.11544A>G (p.Pro3848=) c.11469A>G (p.Pro3823=) c.11169A>G (p.Pro3723=) c.8433A>G (p.Pro2811=) c.7326A>G (p.Pro2442=) c.11352A>G (p.Pro3784=) c.7104A>G (p.Pro2368=) c.10332A>G (p.Pro3444=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99870864A>T | CA462339725 | VPS13B | c.*641A>T (n.*641A>T) n.11617A>T c.*7229A>T (n.*7229A>T) c.11472A>T (p.Pro3824=) c.11547A>T (p.Pro3849=) n.489A>T c.11544A>T (p.Pro3848=) c.11469A>T (p.Pro3823=) c.11169A>T (p.Pro3723=) c.8433A>T (p.Pro2811=) c.7326A>T (p.Pro2442=) c.11352A>T (p.Pro3784=) c.7104A>T (p.Pro2368=) c.10332A>T (p.Pro3444=) | |
| 8 | g.99870865A>C | CA371793708 | VPS13B | c.*642A>C (n.*642A>C) n.11618A>C c.*7230A>C (n.*7230A>C) c.11473A>C (p.Asn3825His) c.11548A>C (p.Asn3850His) n.490A>C c.11545A>C (p.Asn3849His) c.11470A>C (p.Asn3824His) c.11170A>C (p.Asn3724His) c.8434A>C (p.Asn2812His) c.7327A>C (p.Asn2443His) c.11353A>C (p.Asn3785His) c.7105A>C (p.Asn2369His) c.10333A>C (p.Asn3445His) | |
| 8 | g.99870865A>G | CA371793709 | VPS13B | c.*642A>G (n.*642A>G) n.11618A>G c.*7230A>G (n.*7230A>G) c.11473A>G (p.Asn3825Asp) c.11548A>G (p.Asn3850Asp) n.490A>G c.11545A>G (p.Asn3849Asp) c.11470A>G (p.Asn3824Asp) c.11170A>G (p.Asn3724Asp) c.8434A>G (p.Asn2812Asp) c.7327A>G (p.Asn2443Asp) c.11353A>G (p.Asn3785Asp) c.7105A>G (p.Asn2369Asp) c.10333A>G (p.Asn3445Asp) | |
| 8 | g.99870865A>T | CA371793707 | VPS13B | c.*642A>T (n.*642A>T) n.11618A>T c.*7230A>T (n.*7230A>T) c.11473A>T (p.Asn3825Tyr) c.11548A>T (p.Asn3850Tyr) n.490A>T c.11545A>T (p.Asn3849Tyr) c.11470A>T (p.Asn3824Tyr) c.11170A>T (p.Asn3724Tyr) c.8434A>T (p.Asn2812Tyr) c.7327A>T (p.Asn2443Tyr) c.11353A>T (p.Asn3785Tyr) c.7105A>T (p.Asn2369Tyr) c.10333A>T (p.Asn3445Tyr) | |
| 8 | g.99870866A>C | CA371793710 | VPS13B | c.*643A>C (n.*643A>C) n.11619A>C c.*7231A>C (n.*7231A>C) c.11474A>C (p.Asn3825Thr) c.11549A>C (p.Asn3850Thr) n.491A>C c.11546A>C (p.Asn3849Thr) c.11471A>C (p.Asn3824Thr) c.11171A>C (p.Asn3724Thr) c.8435A>C (p.Asn2812Thr) c.7328A>C (p.Asn2443Thr) c.11354A>C (p.Asn3785Thr) c.7106A>C (p.Asn2369Thr) c.10334A>C (p.Asn3445Thr) | |
| 8 | g.99870866A>G | CA4825246 | VPS13B | c.*643A>G (n.*643A>G) n.11619A>G c.*7231A>G (n.*7231A>G) c.11474A>G (p.Asn3825Ser) c.11549A>G (p.Asn3850Ser) n.491A>G c.11546A>G (p.Asn3849Ser) c.11471A>G (p.Asn3824Ser) c.11171A>G (p.Asn3724Ser) c.8435A>G (p.Asn2812Ser) c.7328A>G (p.Asn2443Ser) c.11354A>G (p.Asn3785Ser) c.7106A>G (p.Asn2369Ser) c.10334A>G (p.Asn3445Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99870866A>T | CA371793711 | VPS13B | c.*643A>T (n.*643A>T) n.11619A>T c.*7231A>T (n.*7231A>T) c.11474A>T (p.Asn3825Ile) c.11549A>T (p.Asn3850Ile) n.491A>T c.11546A>T (p.Asn3849Ile) c.11471A>T (p.Asn3824Ile) c.11171A>T (p.Asn3724Ile) c.8435A>T (p.Asn2812Ile) c.7328A>T (p.Asn2443Ile) c.11354A>T (p.Asn3785Ile) c.7106A>T (p.Asn2369Ile) c.10334A>T (p.Asn3445Ile) | |
| 8 | g.99870867C>A | CA371793712 | VPS13B | c.*644C>A (n.*644C>A) n.11620C>A c.*7232C>A (n.*7232C>A) c.11475C>A (p.Asn3825Lys) c.11550C>A (p.Asn3850Lys) n.492C>A c.11547C>A (p.Asn3849Lys) c.11472C>A (p.Asn3824Lys) c.11172C>A (p.Asn3724Lys) c.8436C>A (p.Asn2812Lys) c.7329C>A (p.Asn2443Lys) c.11355C>A (p.Asn3785Lys) c.7107C>A (p.Asn2369Lys) c.10335C>A (p.Asn3445Lys) | |
| 8 | g.99870867C>G | CA371793713 | VPS13B | c.*644C>G (n.*644C>G) n.11620C>G c.*7232C>G (n.*7232C>G) c.11475C>G (p.Asn3825Lys) c.11550C>G (p.Asn3850Lys) n.492C>G c.11547C>G (p.Asn3849Lys) c.11472C>G (p.Asn3824Lys) c.11172C>G (p.Asn3724Lys) c.8436C>G (p.Asn2812Lys) c.7329C>G (p.Asn2443Lys) c.11355C>G (p.Asn3785Lys) c.7107C>G (p.Asn2369Lys) c.10335C>G (p.Asn3445Lys) | gnomAD v4 |
| 8 | g.99870867C>T | CA462339731 | VPS13B | c.*644C>T (n.*644C>T) n.11620C>T c.*7232C>T (n.*7232C>T) c.11475C>T (p.Asn3825=) c.11550C>T (p.Asn3850=) n.492C>T c.11547C>T (p.Asn3849=) c.11472C>T (p.Asn3824=) c.11172C>T (p.Asn3724=) c.8436C>T (p.Asn2812=) c.7329C>T (p.Asn2443=) c.11355C>T (p.Asn3785=) c.7107C>T (p.Asn2369=) c.10335C>T (p.Asn3445=) | gnomAD v4 |
| 8 | g.99870868A>C | CA371793714 | VPS13B | c.*645A>C (n.*645A>C) n.11621A>C c.*7233A>C (n.*7233A>C) c.11476A>C (p.Ser3826Arg) c.11551A>C (p.Ser3851Arg) n.493A>C c.11548A>C (p.Ser3850Arg) c.11473A>C (p.Ser3825Arg) c.11173A>C (p.Ser3725Arg) c.8437A>C (p.Ser2813Arg) c.7330A>C (p.Ser2444Arg) c.11356A>C (p.Ser3786Arg) c.7108A>C (p.Ser2370Arg) c.10336A>C (p.Ser3446Arg) | |
| 8 | g.99870868A>G | CA182331158 | VPS13B | c.*645A>G (n.*645A>G) n.11621A>G c.*7233A>G (n.*7233A>G) c.11476A>G (p.Ser3826Gly) c.11551A>G (p.Ser3851Gly) n.493A>G c.11548A>G (p.Ser3850Gly) c.11473A>G (p.Ser3825Gly) c.11173A>G (p.Ser3725Gly) c.8437A>G (p.Ser2813Gly) c.7330A>G (p.Ser2444Gly) c.11356A>G (p.Ser3786Gly) c.7108A>G (p.Ser2370Gly) c.10336A>G (p.Ser3446Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99870868A>T | CA371793715 | VPS13B | c.*645A>T (n.*645A>T) n.11621A>T c.*7233A>T (n.*7233A>T) c.11476A>T (p.Ser3826Cys) c.11551A>T (p.Ser3851Cys) n.493A>T c.11548A>T (p.Ser3850Cys) c.11473A>T (p.Ser3825Cys) c.11173A>T (p.Ser3725Cys) c.8437A>T (p.Ser2813Cys) c.7330A>T (p.Ser2444Cys) c.11356A>T (p.Ser3786Cys) c.7108A>T (p.Ser2370Cys) c.10336A>T (p.Ser3446Cys) | |
| 8 | g.99870869G>A | CA371793716 | VPS13B | c.*646G>A (n.*646G>A) n.11622G>A c.*7234G>A (n.*7234G>A) c.11477G>A (p.Ser3826Asn) c.11552G>A (p.Ser3851Asn) n.494G>A c.11549G>A (p.Ser3850Asn) c.11474G>A (p.Ser3825Asn) c.11174G>A (p.Ser3725Asn) c.8438G>A (p.Ser2813Asn) c.7331G>A (p.Ser2444Asn) c.11357G>A (p.Ser3786Asn) c.7109G>A (p.Ser2370Asn) c.10337G>A (p.Ser3446Asn) | |
| 8 | g.99870869G>C | CA371793718 | VPS13B | c.*646G>C (n.*646G>C) n.11622G>C c.*7234G>C (n.*7234G>C) c.11477G>C (p.Ser3826Thr) c.11552G>C (p.Ser3851Thr) n.494G>C c.11549G>C (p.Ser3850Thr) c.11474G>C (p.Ser3825Thr) c.11174G>C (p.Ser3725Thr) c.8438G>C (p.Ser2813Thr) c.7331G>C (p.Ser2444Thr) c.11357G>C (p.Ser3786Thr) c.7109G>C (p.Ser2370Thr) c.10337G>C (p.Ser3446Thr) | |
| 8 | g.99870869G>T | CA371793717 | VPS13B | c.*646G>T (n.*646G>T) n.11622G>T c.*7234G>T (n.*7234G>T) c.11477G>T (p.Ser3826Ile) c.11552G>T (p.Ser3851Ile) n.494G>T c.11549G>T (p.Ser3850Ile) c.11474G>T (p.Ser3825Ile) c.11174G>T (p.Ser3725Ile) c.8438G>T (p.Ser2813Ile) c.7331G>T (p.Ser2444Ile) c.11357G>T (p.Ser3786Ile) c.7109G>T (p.Ser2370Ile) c.10337G>T (p.Ser3446Ile) | |
| 8 | g.99870870C>A | CA371793719 | VPS13B | c.*647C>A (n.*647C>A) n.11623C>A c.*7235C>A (n.*7235C>A) c.11478C>A (p.Ser3826Arg) c.11553C>A (p.Ser3851Arg) n.495C>A c.11550C>A (p.Ser3850Arg) c.11475C>A (p.Ser3825Arg) c.11175C>A (p.Ser3725Arg) c.8439C>A (p.Ser2813Arg) c.7332C>A (p.Ser2444Arg) c.11358C>A (p.Ser3786Arg) c.7110C>A (p.Ser2370Arg) c.10338C>A (p.Ser3446Arg) | |
| 8 | g.99870870C>G | CA371793720 | VPS13B | c.*647C>G (n.*647C>G) n.11623C>G c.*7235C>G (n.*7235C>G) c.11478C>G (p.Ser3826Arg) c.11553C>G (p.Ser3851Arg) n.495C>G c.11550C>G (p.Ser3850Arg) c.11475C>G (p.Ser3825Arg) c.11175C>G (p.Ser3725Arg) c.8439C>G (p.Ser2813Arg) c.7332C>G (p.Ser2444Arg) c.11358C>G (p.Ser3786Arg) c.7110C>G (p.Ser2370Arg) c.10338C>G (p.Ser3446Arg) | |
| 8 | g.99870870C>T | CA462339735 | VPS13B | c.*647C>T (n.*647C>T) n.11623C>T c.*7235C>T (n.*7235C>T) c.11478C>T (p.Ser3826=) c.11553C>T (p.Ser3851=) n.495C>T c.11550C>T (p.Ser3850=) c.11475C>T (p.Ser3825=) c.11175C>T (p.Ser3725=) c.8439C>T (p.Ser2813=) c.7332C>T (p.Ser2444=) c.11358C>T (p.Ser3786=) c.7110C>T (p.Ser2370=) c.10338C>T (p.Ser3446=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99870871C>A | CA371793721 | VPS13B | c.*648C>A (n.*648C>A) n.11624C>A c.*7236C>A (n.*7236C>A) c.11479C>A (p.His3827Asn) c.11554C>A (p.His3852Asn) n.496C>A c.11551C>A (p.His3851Asn) c.11476C>A (p.His3826Asn) c.11176C>A (p.His3726Asn) c.8440C>A (p.His2814Asn) c.7333C>A (p.His2445Asn) c.11359C>A (p.His3787Asn) c.7111C>A (p.His2371Asn) c.10339C>A (p.His3447Asn) | |
| 8 | g.99870871C>G | CA371793722 | VPS13B | c.*648C>G (n.*648C>G) n.11624C>G c.*7236C>G (n.*7236C>G) c.11479C>G (p.His3827Asp) c.11554C>G (p.His3852Asp) n.496C>G c.11551C>G (p.His3851Asp) c.11476C>G (p.His3826Asp) c.11176C>G (p.His3726Asp) c.8440C>G (p.His2814Asp) c.7333C>G (p.His2445Asp) c.11359C>G (p.His3787Asp) c.7111C>G (p.His2371Asp) c.10339C>G (p.His3447Asp) | |
| 8 | g.99870871C>T | CA371793723 | VPS13B | c.*648C>T (n.*648C>T) n.11624C>T c.*7236C>T (n.*7236C>T) c.11479C>T (p.His3827Tyr) c.11554C>T (p.His3852Tyr) n.496C>T c.11551C>T (p.His3851Tyr) c.11476C>T (p.His3826Tyr) c.11176C>T (p.His3726Tyr) c.8440C>T (p.His2814Tyr) c.7333C>T (p.His2445Tyr) c.11359C>T (p.His3787Tyr) c.7111C>T (p.His2371Tyr) c.10339C>T (p.His3447Tyr) | COSMIC COSMIC |
| 8 | g.99870872A>C | CA371793724 | VPS13B | c.*649A>C (n.*649A>C) n.11625A>C c.*7237A>C (n.*7237A>C) c.11480A>C (p.His3827Pro) c.11555A>C (p.His3852Pro) n.497A>C c.11552A>C (p.His3851Pro) c.11477A>C (p.His3826Pro) c.11177A>C (p.His3726Pro) c.8441A>C (p.His2814Pro) c.7334A>C (p.His2445Pro) c.11360A>C (p.His3787Pro) c.7112A>C (p.His2371Pro) c.10340A>C (p.His3447Pro) | |
| 8 | g.99870872A>G | CA371793725 | VPS13B | c.*649A>G (n.*649A>G) n.11625A>G c.*7237A>G (n.*7237A>G) c.11480A>G (p.His3827Arg) c.11555A>G (p.His3852Arg) n.497A>G c.11552A>G (p.His3851Arg) c.11477A>G (p.His3826Arg) c.11177A>G (p.His3726Arg) c.8441A>G (p.His2814Arg) c.7334A>G (p.His2445Arg) c.11360A>G (p.His3787Arg) c.7112A>G (p.His2371Arg) c.10340A>G (p.His3447Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99870872A>T | CA371793726 | VPS13B | c.*649A>T (n.*649A>T) n.11625A>T c.*7237A>T (n.*7237A>T) c.11480A>T (p.His3827Leu) c.11555A>T (p.His3852Leu) n.497A>T c.11552A>T (p.His3851Leu) c.11477A>T (p.His3826Leu) c.11177A>T (p.His3726Leu) c.8441A>T (p.His2814Leu) c.7334A>T (p.His2445Leu) c.11360A>T (p.His3787Leu) c.7112A>T (p.His2371Leu) c.10340A>T (p.His3447Leu) | |
| 8 | g.99870873T>A | CA371793727 | VPS13B | c.*650T>A (n.*650T>A) n.11626T>A c.*7238T>A (n.*7238T>A) c.11481T>A (p.His3827Gln) c.11556T>A (p.His3852Gln) n.498T>A c.11553T>A (p.His3851Gln) c.11478T>A (p.His3826Gln) c.11178T>A (p.His3726Gln) c.8442T>A (p.His2814Gln) c.7335T>A (p.His2445Gln) c.11361T>A (p.His3787Gln) c.7113T>A (p.His2371Gln) c.10341T>A (p.His3447Gln) | gnomAD v4 |
| 8 | g.99870873T>C | CA462339742 | VPS13B | c.*650T>C (n.*650T>C) n.11626T>C c.*7238T>C (n.*7238T>C) c.11481T>C (p.His3827=) c.11556T>C (p.His3852=) n.498T>C c.11553T>C (p.His3851=) c.11478T>C (p.His3826=) c.11178T>C (p.His3726=) c.8442T>C (p.His2814=) c.7335T>C (p.His2445=) c.11361T>C (p.His3787=) c.7113T>C (p.His2371=) c.10341T>C (p.His3447=) | |
| 8 | g.99870873T>G | CA371793728 | VPS13B | c.*650T>G (n.*650T>G) n.11626T>G c.*7238T>G (n.*7238T>G) c.11481T>G (p.His3827Gln) c.11556T>G (p.His3852Gln) n.498T>G c.11553T>G (p.His3851Gln) c.11478T>G (p.His3826Gln) c.11178T>G (p.His3726Gln) c.8442T>G (p.His2814Gln) c.7335T>G (p.His2445Gln) c.11361T>G (p.His3787Gln) c.7113T>G (p.His2371Gln) c.10341T>G (p.His3447Gln) | ClinVar dbSNP |
| 8 | g.99870873dup | CA264014 | VPS13B | c.*650dup (n.*650dup) n.11626dup c.*7238dup (n.*7238dup) c.11481dup (p.Val3828CysfsTer?) c.11556dup (p.Val3853CysfsTer?) n.498dup c.11553dup (p.Val3852CysfsTer?) c.11478dup (p.Val3827CysfsTer?) c.11178dup (p.Val3727CysfsTer?) c.8442dup (p.Val2815CysfsTer?) c.7335dup (p.Val2446CysfsTer?) c.11361dup (p.Val3788CysfsTer?) c.7113dup (p.Val2372CysfsTer?) c.10341dup (p.Val3448CysfsTer?) | ClinVar dbSNP |
| 8 | g.99870874G>A | CA371793729 | VPS13B | c.*651G>A (n.*651G>A) n.11627G>A c.*7239G>A (n.*7239G>A) c.11482G>A (p.Val3828Ile) c.11557G>A (p.Val3853Ile) n.499G>A c.11554G>A (p.Val3852Ile) c.11479G>A (p.Val3827Ile) c.11179G>A (p.Val3727Ile) c.8443G>A (p.Val2815Ile) c.7336G>A (p.Val2446Ile) c.11362G>A (p.Val3788Ile) c.7114G>A (p.Val2372Ile) c.10342G>A (p.Val3448Ile) | gnomAD v4 |
| 8 | g.99870874G>C | CA371793730 | VPS13B | c.*651G>C (n.*651G>C) n.11627G>C c.*7239G>C (n.*7239G>C) c.11482G>C (p.Val3828Leu) c.11557G>C (p.Val3853Leu) n.499G>C c.11554G>C (p.Val3852Leu) c.11479G>C (p.Val3827Leu) c.11179G>C (p.Val3727Leu) c.8443G>C (p.Val2815Leu) c.7336G>C (p.Val2446Leu) c.11362G>C (p.Val3788Leu) c.7114G>C (p.Val2372Leu) c.10342G>C (p.Val3448Leu) | |
| 8 | g.99870874G>T | CA371793731 | VPS13B | c.*651G>T (n.*651G>T) n.11627G>T c.*7239G>T (n.*7239G>T) c.11482G>T (p.Val3828Phe) c.11557G>T (p.Val3853Phe) n.499G>T c.11554G>T (p.Val3852Phe) c.11479G>T (p.Val3827Phe) c.11179G>T (p.Val3727Phe) c.8443G>T (p.Val2815Phe) c.7336G>T (p.Val2446Phe) c.11362G>T (p.Val3788Phe) c.7114G>T (p.Val2372Phe) c.10342G>T (p.Val3448Phe) | |
| 8 | g.99870875T>A | CA371793732 | VPS13B | c.*652T>A (n.*652T>A) n.11628T>A c.*7240T>A (n.*7240T>A) c.11483T>A (p.Val3828Asp) c.11558T>A (p.Val3853Asp) n.500T>A c.11555T>A (p.Val3852Asp) c.11480T>A (p.Val3827Asp) c.11180T>A (p.Val3727Asp) c.8444T>A (p.Val2815Asp) c.7337T>A (p.Val2446Asp) c.11363T>A (p.Val3788Asp) c.7115T>A (p.Val2372Asp) c.10343T>A (p.Val3448Asp) | |
| 8 | g.99870875T>C | CA371793734 | VPS13B | c.*652T>C (n.*652T>C) n.11628T>C c.*7240T>C (n.*7240T>C) c.11483T>C (p.Val3828Ala) c.11558T>C (p.Val3853Ala) n.500T>C c.11555T>C (p.Val3852Ala) c.11480T>C (p.Val3827Ala) c.11180T>C (p.Val3727Ala) c.8444T>C (p.Val2815Ala) c.7337T>C (p.Val2446Ala) c.11363T>C (p.Val3788Ala) c.7115T>C (p.Val2372Ala) c.10343T>C (p.Val3448Ala) | |
| 8 | g.99870875T>G | CA371793733 | VPS13B | c.*652T>G (n.*652T>G) n.11628T>G c.*7240T>G (n.*7240T>G) c.11483T>G (p.Val3828Gly) c.11558T>G (p.Val3853Gly) n.500T>G c.11555T>G (p.Val3852Gly) c.11480T>G (p.Val3827Gly) c.11180T>G (p.Val3727Gly) c.8444T>G (p.Val2815Gly) c.7337T>G (p.Val2446Gly) c.11363T>G (p.Val3788Gly) c.7115T>G (p.Val2372Gly) c.10343T>G (p.Val3448Gly) | COSMIC COSMIC |
| 8 | g.99870876C>A | CA462339749 | VPS13B | c.*653C>A (n.*653C>A) n.11629C>A c.*7241C>A (n.*7241C>A) c.11484C>A (p.Val3828=) c.11559C>A (p.Val3853=) n.501C>A c.11556C>A (p.Val3852=) c.11481C>A (p.Val3827=) c.11181C>A (p.Val3727=) c.8445C>A (p.Val2815=) c.7338C>A (p.Val2446=) c.11364C>A (p.Val3788=) c.7116C>A (p.Val2372=) c.10344C>A (p.Val3448=) | |
| 8 | g.99870876C>G | CA4825247 | VPS13B | c.*653C>G (n.*653C>G) n.11629C>G c.*7241C>G (n.*7241C>G) c.11484C>G (p.Val3828=) c.11559C>G (p.Val3853=) n.501C>G c.11556C>G (p.Val3852=) c.11481C>G (p.Val3827=) c.11181C>G (p.Val3727=) c.8445C>G (p.Val2815=) c.7338C>G (p.Val2446=) c.11364C>G (p.Val3788=) c.7116C>G (p.Val2372=) c.10344C>G (p.Val3448=) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.99870876C>T | CA462339747 | VPS13B | c.*653C>T (n.*653C>T) n.11629C>T c.*7241C>T (n.*7241C>T) c.11484C>T (p.Val3828=) c.11559C>T (p.Val3853=) n.501C>T c.11556C>T (p.Val3852=) c.11481C>T (p.Val3827=) c.11181C>T (p.Val3727=) c.8445C>T (p.Val2815=) c.7338C>T (p.Val2446=) c.11364C>T (p.Val3788=) c.7116C>T (p.Val2372=) c.10344C>T (p.Val3448=) | gnomAD v4 |
| 8 | g.99870877A>C | CA371793735 | VPS13B | c.*654A>C (n.*654A>C) n.11630A>C c.*7242A>C (n.*7242A>C) c.11485A>C (p.Lys3829Gln) c.11560A>C (p.Lys3854Gln) n.502A>C c.11557A>C (p.Lys3853Gln) c.11482A>C (p.Lys3828Gln) c.11182A>C (p.Lys3728Gln) c.8446A>C (p.Lys2816Gln) c.7339A>C (p.Lys2447Gln) c.11365A>C (p.Lys3789Gln) c.7117A>C (p.Lys2373Gln) c.10345A>C (p.Lys3449Gln) | gnomAD v4 |
| 8 | g.99870877A>G | CA371793736 | VPS13B | c.*654A>G (n.*654A>G) n.11630A>G c.*7242A>G (n.*7242A>G) c.11485A>G (p.Lys3829Glu) c.11560A>G (p.Lys3854Glu) n.502A>G c.11557A>G (p.Lys3853Glu) c.11482A>G (p.Lys3828Glu) c.11182A>G (p.Lys3728Glu) c.8446A>G (p.Lys2816Glu) c.7339A>G (p.Lys2447Glu) c.11365A>G (p.Lys3789Glu) c.7117A>G (p.Lys2373Glu) c.10345A>G (p.Lys3449Glu) | |
| 8 | g.99870877A>T | CA371793737 | VPS13B | c.*654A>T (n.*654A>T) n.11630A>T c.*7242A>T (n.*7242A>T) c.11485A>T (p.Lys3829Ter) c.11560A>T (p.Lys3854Ter) n.502A>T c.11557A>T (p.Lys3853Ter) c.11482A>T (p.Lys3828Ter) c.11182A>T (p.Lys3728Ter) c.8446A>T (p.Lys2816Ter) c.7339A>T (p.Lys2447Ter) c.11365A>T (p.Lys3789Ter) c.7117A>T (p.Lys2373Ter) c.10345A>T (p.Lys3449Ter) | |
| 8 | g.99870878A>C | CA371793738 | VPS13B | c.*655A>C (n.*655A>C) n.11631A>C c.*7243A>C (n.*7243A>C) c.11486A>C (p.Lys3829Thr) c.11561A>C (p.Lys3854Thr) n.503A>C c.11558A>C (p.Lys3853Thr) c.11483A>C (p.Lys3828Thr) c.11183A>C (p.Lys3728Thr) c.8447A>C (p.Lys2816Thr) c.7340A>C (p.Lys2447Thr) c.11366A>C (p.Lys3789Thr) c.7118A>C (p.Lys2373Thr) c.10346A>C (p.Lys3449Thr) | |
| 8 | g.99870878A>G | CA371793739 | VPS13B | c.*655A>G (n.*655A>G) n.11631A>G c.*7243A>G (n.*7243A>G) c.11486A>G (p.Lys3829Arg) c.11561A>G (p.Lys3854Arg) n.503A>G c.11558A>G (p.Lys3853Arg) c.11483A>G (p.Lys3828Arg) c.11183A>G (p.Lys3728Arg) c.8447A>G (p.Lys2816Arg) c.7340A>G (p.Lys2447Arg) c.11366A>G (p.Lys3789Arg) c.7118A>G (p.Lys2373Arg) c.10346A>G (p.Lys3449Arg) |