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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99853770_99853771del | CA284769 | VPS13B | c.10456_10457del (p.Leu3487ProfsTer24) n.10526_10527del c.*6138_*6139del (n.*6138_*6139del) c.10381_10382del (p.Leu3462ProfsTer24) c.10453_10454del (p.Leu3486ProfsTer24) c.10378_10379del (p.Leu3461ProfsTer24) c.10078_10079del (p.Leu3361ProfsTer24) c.7342_7343del (p.Leu2449ProfsTer24) c.6235_6236del (p.Leu2080ProfsTer24) c.10261_10262del (p.Leu3422ProfsTer24) c.6013_6014del (p.Leu2006ProfsTer24) c.9241_9242del (p.Leu3082ProfsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99853770A>C | CA371782610 | VPS13B | c.10456A>C (p.Ser3486Arg) n.10526A>C c.*6138A>C (n.*6138A>C) c.10381A>C (p.Ser3461Arg) c.10453A>C (p.Ser3485Arg) c.10378A>C (p.Ser3460Arg) c.10078A>C (p.Ser3360Arg) c.7342A>C (p.Ser2448Arg) c.6235A>C (p.Ser2079Arg) c.10261A>C (p.Ser3421Arg) c.6013A>C (p.Ser2005Arg) c.9241A>C (p.Ser3081Arg) | |
| 8 | g.99853770A>G | CA371782608 | VPS13B | c.10456A>G (p.Ser3486Gly) n.10526A>G c.*6138A>G (n.*6138A>G) c.10381A>G (p.Ser3461Gly) c.10453A>G (p.Ser3485Gly) c.10378A>G (p.Ser3460Gly) c.10078A>G (p.Ser3360Gly) c.7342A>G (p.Ser2448Gly) c.6235A>G (p.Ser2079Gly) c.10261A>G (p.Ser3421Gly) c.6013A>G (p.Ser2005Gly) c.9241A>G (p.Ser3081Gly) | |
| 8 | g.99853770A>T | CA371782605 | VPS13B | c.10456A>T (p.Ser3486Cys) n.10526A>T c.*6138A>T (n.*6138A>T) c.10381A>T (p.Ser3461Cys) c.10453A>T (p.Ser3485Cys) c.10378A>T (p.Ser3460Cys) c.10078A>T (p.Ser3360Cys) c.7342A>T (p.Ser2448Cys) c.6235A>T (p.Ser2079Cys) c.10261A>T (p.Ser3421Cys) c.6013A>T (p.Ser2005Cys) c.9241A>T (p.Ser3081Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99853771G>A | CA371782613 | VPS13B | c.10457G>A (p.Ser3486Asn) n.10527G>A c.*6139G>A (n.*6139G>A) c.10382G>A (p.Ser3461Asn) c.10454G>A (p.Ser3485Asn) c.10379G>A (p.Ser3460Asn) c.10079G>A (p.Ser3360Asn) c.7343G>A (p.Ser2448Asn) c.6236G>A (p.Ser2079Asn) c.10262G>A (p.Ser3421Asn) c.6014G>A (p.Ser2005Asn) c.9242G>A (p.Ser3081Asn) | ClinVar dbSNP |
| 8 | g.99853771G>C | CA371782615 | VPS13B | c.10457G>C (p.Ser3486Thr) n.10527G>C c.*6139G>C (n.*6139G>C) c.10382G>C (p.Ser3461Thr) c.10454G>C (p.Ser3485Thr) c.10379G>C (p.Ser3460Thr) c.10079G>C (p.Ser3360Thr) c.7343G>C (p.Ser2448Thr) c.6236G>C (p.Ser2079Thr) c.10262G>C (p.Ser3421Thr) c.6014G>C (p.Ser2005Thr) c.9242G>C (p.Ser3081Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99853771G>T | CA371782618 | VPS13B | c.10457G>T (p.Ser3486Ile) n.10527G>T c.*6139G>T (n.*6139G>T) c.10382G>T (p.Ser3461Ile) c.10454G>T (p.Ser3485Ile) c.10379G>T (p.Ser3460Ile) c.10079G>T (p.Ser3360Ile) c.7343G>T (p.Ser2448Ile) c.6236G>T (p.Ser2079Ile) c.10262G>T (p.Ser3421Ile) c.6014G>T (p.Ser2005Ile) c.9242G>T (p.Ser3081Ile) | |
| 8 | g.99853772T>A | CA371782623 | VPS13B | c.10458T>A (p.Ser3486Arg) n.10528T>A c.*6140T>A (n.*6140T>A) c.10383T>A (p.Ser3461Arg) c.10455T>A (p.Ser3485Arg) c.10380T>A (p.Ser3460Arg) c.10080T>A (p.Ser3360Arg) c.7344T>A (p.Ser2448Arg) c.6237T>A (p.Ser2079Arg) c.10263T>A (p.Ser3421Arg) c.6015T>A (p.Ser2005Arg) c.9243T>A (p.Ser3081Arg) | |
| 8 | g.99853772T>C | CA462458173 | VPS13B | c.10458T>C (p.Ser3486=) n.10528T>C c.*6140T>C (n.*6140T>C) c.10383T>C (p.Ser3461=) c.10455T>C (p.Ser3485=) c.10380T>C (p.Ser3460=) c.10080T>C (p.Ser3360=) c.7344T>C (p.Ser2448=) c.6237T>C (p.Ser2079=) c.10263T>C (p.Ser3421=) c.6015T>C (p.Ser2005=) c.9243T>C (p.Ser3081=) | |
| 8 | g.99853772T>G | CA371782625 | VPS13B | c.10458T>G (p.Ser3486Arg) n.10528T>G c.*6140T>G (n.*6140T>G) c.10383T>G (p.Ser3461Arg) c.10455T>G (p.Ser3485Arg) c.10380T>G (p.Ser3460Arg) c.10080T>G (p.Ser3360Arg) c.7344T>G (p.Ser2448Arg) c.6237T>G (p.Ser2079Arg) c.10263T>G (p.Ser3421Arg) c.6015T>G (p.Ser2005Arg) c.9243T>G (p.Ser3081Arg) | |
| 8 | g.99853773C>A | CA371782628 | VPS13B | c.10459C>A (p.Leu3487Ile) n.10529C>A c.*6141C>A (n.*6141C>A) c.10384C>A (p.Leu3462Ile) c.10456C>A (p.Leu3486Ile) c.10381C>A (p.Leu3461Ile) c.10081C>A (p.Leu3361Ile) c.7345C>A (p.Leu2449Ile) c.6238C>A (p.Leu2080Ile) c.10264C>A (p.Leu3422Ile) c.6016C>A (p.Leu2006Ile) c.9244C>A (p.Leu3082Ile) | |
| 8 | g.99853773C>G | CA4824940 | VPS13B | c.10459C>G (p.Leu3487Val) n.10529C>G c.*6141C>G (n.*6141C>G) c.10384C>G (p.Leu3462Val) c.10456C>G (p.Leu3486Val) c.10381C>G (p.Leu3461Val) c.10081C>G (p.Leu3361Val) c.7345C>G (p.Leu2449Val) c.6238C>G (p.Leu2080Val) c.10264C>G (p.Leu3422Val) c.6016C>G (p.Leu2006Val) c.9244C>G (p.Leu3082Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99853773C>T | CA10628543 | VPS13B | c.10459C>T (p.Leu3487Phe) n.10529C>T c.*6141C>T (n.*6141C>T) c.10384C>T (p.Leu3462Phe) c.10456C>T (p.Leu3486Phe) c.10381C>T (p.Leu3461Phe) c.10081C>T (p.Leu3361Phe) c.7345C>T (p.Leu2449Phe) c.6238C>T (p.Leu2080Phe) c.10264C>T (p.Leu3422Phe) c.6016C>T (p.Leu2006Phe) c.9244C>T (p.Leu3082Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853774T>A | CA371782638 | VPS13B | c.10460T>A (p.Leu3487His) n.10530T>A c.*6142T>A (n.*6142T>A) c.10385T>A (p.Leu3462His) c.10457T>A (p.Leu3486His) c.10382T>A (p.Leu3461His) c.10082T>A (p.Leu3361His) c.7346T>A (p.Leu2449His) c.6239T>A (p.Leu2080His) c.10265T>A (p.Leu3422His) c.6017T>A (p.Leu2006His) c.9245T>A (p.Leu3082His) | |
| 8 | g.99853774T>C | CA371782640 | VPS13B | c.10460T>C (p.Leu3487Pro) n.10530T>C c.*6142T>C (n.*6142T>C) c.10385T>C (p.Leu3462Pro) c.10457T>C (p.Leu3486Pro) c.10382T>C (p.Leu3461Pro) c.10082T>C (p.Leu3361Pro) c.7346T>C (p.Leu2449Pro) c.6239T>C (p.Leu2080Pro) c.10265T>C (p.Leu3422Pro) c.6017T>C (p.Leu2006Pro) c.9245T>C (p.Leu3082Pro) | |
| 8 | g.99853774T>G | CA371782642 | VPS13B | c.10460T>G (p.Leu3487Arg) n.10530T>G c.*6142T>G (n.*6142T>G) c.10385T>G (p.Leu3462Arg) c.10457T>G (p.Leu3486Arg) c.10382T>G (p.Leu3461Arg) c.10082T>G (p.Leu3361Arg) c.7346T>G (p.Leu2449Arg) c.6239T>G (p.Leu2080Arg) c.10265T>G (p.Leu3422Arg) c.6017T>G (p.Leu2006Arg) c.9245T>G (p.Leu3082Arg) | |
| 8 | g.99853775C>A | CA462458174 | VPS13B | c.10461C>A (p.Leu3487=) n.10531C>A c.*6143C>A (n.*6143C>A) c.10386C>A (p.Leu3462=) c.10458C>A (p.Leu3486=) c.10383C>A (p.Leu3461=) c.10083C>A (p.Leu3361=) c.7347C>A (p.Leu2449=) c.6240C>A (p.Leu2080=) c.10266C>A (p.Leu3422=) c.6018C>A (p.Leu2006=) c.9246C>A (p.Leu3082=) | |
| 8 | g.99853775C>G | CA462458175 | VPS13B | c.10461C>G (p.Leu3487=) n.10531C>G c.*6143C>G (n.*6143C>G) c.10386C>G (p.Leu3462=) c.10458C>G (p.Leu3486=) c.10383C>G (p.Leu3461=) c.10083C>G (p.Leu3361=) c.7347C>G (p.Leu2449=) c.6240C>G (p.Leu2080=) c.10266C>G (p.Leu3422=) c.6018C>G (p.Leu2006=) c.9246C>G (p.Leu3082=) | ClinVar |
| 8 | g.99853775C>T | CA462458176 | VPS13B | c.10461C>T (p.Leu3487=) n.10531C>T c.*6143C>T (n.*6143C>T) c.10386C>T (p.Leu3462=) c.10458C>T (p.Leu3486=) c.10383C>T (p.Leu3461=) c.10083C>T (p.Leu3361=) c.7347C>T (p.Leu2449=) c.6240C>T (p.Leu2080=) c.10266C>T (p.Leu3422=) c.6018C>T (p.Leu2006=) c.9246C>T (p.Leu3082=) | |
| 8 | g.99853776C>A | CA371782643 | VPS13B | c.10462C>A (p.Leu3488Ile) n.10532C>A c.*6144C>A (n.*6144C>A) c.10387C>A (p.Leu3463Ile) c.10459C>A (p.Leu3487Ile) c.10384C>A (p.Leu3462Ile) c.10084C>A (p.Leu3362Ile) c.7348C>A (p.Leu2450Ile) c.6241C>A (p.Leu2081Ile) c.10267C>A (p.Leu3423Ile) c.6019C>A (p.Leu2007Ile) c.9247C>A (p.Leu3083Ile) | |
| 8 | g.99853776C>G | CA371782644 | VPS13B | c.10462C>G (p.Leu3488Val) n.10532C>G c.*6144C>G (n.*6144C>G) c.10387C>G (p.Leu3463Val) c.10459C>G (p.Leu3487Val) c.10384C>G (p.Leu3462Val) c.10084C>G (p.Leu3362Val) c.7348C>G (p.Leu2450Val) c.6241C>G (p.Leu2081Val) c.10267C>G (p.Leu3423Val) c.6019C>G (p.Leu2007Val) c.9247C>G (p.Leu3083Val) | |
| 8 | g.99853776C>T | CA4824941 | VPS13B | c.10462C>T (p.Leu3488Phe) n.10532C>T c.*6144C>T (n.*6144C>T) c.10387C>T (p.Leu3463Phe) c.10459C>T (p.Leu3487Phe) c.10384C>T (p.Leu3462Phe) c.10084C>T (p.Leu3362Phe) c.7348C>T (p.Leu2450Phe) c.6241C>T (p.Leu2081Phe) c.10267C>T (p.Leu3423Phe) c.6019C>T (p.Leu2007Phe) c.9247C>T (p.Leu3083Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853777T>A | CA371782645 | VPS13B | c.10463T>A (p.Leu3488His) n.10533T>A c.*6145T>A (n.*6145T>A) c.10388T>A (p.Leu3463His) c.10460T>A (p.Leu3487His) c.10385T>A (p.Leu3462His) c.10085T>A (p.Leu3362His) c.7349T>A (p.Leu2450His) c.6242T>A (p.Leu2081His) c.10268T>A (p.Leu3423His) c.6020T>A (p.Leu2007His) c.9248T>A (p.Leu3083His) | |
| 8 | g.99853777T>C | CA371782646 | VPS13B | c.10463T>C (p.Leu3488Pro) n.10533T>C c.*6145T>C (n.*6145T>C) c.10388T>C (p.Leu3463Pro) c.10460T>C (p.Leu3487Pro) c.10385T>C (p.Leu3462Pro) c.10085T>C (p.Leu3362Pro) c.7349T>C (p.Leu2450Pro) c.6242T>C (p.Leu2081Pro) c.10268T>C (p.Leu3423Pro) c.6020T>C (p.Leu2007Pro) c.9248T>C (p.Leu3083Pro) | |
| 8 | g.99853777T>G | CA371782647 | VPS13B | c.10463T>G (p.Leu3488Arg) n.10533T>G c.*6145T>G (n.*6145T>G) c.10388T>G (p.Leu3463Arg) c.10460T>G (p.Leu3487Arg) c.10385T>G (p.Leu3462Arg) c.10085T>G (p.Leu3362Arg) c.7349T>G (p.Leu2450Arg) c.6242T>G (p.Leu2081Arg) c.10268T>G (p.Leu3423Arg) c.6020T>G (p.Leu2007Arg) c.9248T>G (p.Leu3083Arg) | |
| 8 | g.99853778C>A | CA462458178 | VPS13B | c.10464C>A (p.Leu3488=) n.10534C>A c.*6146C>A (n.*6146C>A) c.10389C>A (p.Leu3463=) c.10461C>A (p.Leu3487=) c.10386C>A (p.Leu3462=) c.10086C>A (p.Leu3362=) c.7350C>A (p.Leu2450=) c.6243C>A (p.Leu2081=) c.10269C>A (p.Leu3423=) c.6021C>A (p.Leu2007=) c.9249C>A (p.Leu3083=) | ClinVar |
| 8 | g.99853778C>G | CA462458179 | VPS13B | c.10464C>G (p.Leu3488=) n.10534C>G c.*6146C>G (n.*6146C>G) c.10389C>G (p.Leu3463=) c.10461C>G (p.Leu3487=) c.10386C>G (p.Leu3462=) c.10086C>G (p.Leu3362=) c.7350C>G (p.Leu2450=) c.6243C>G (p.Leu2081=) c.10269C>G (p.Leu3423=) c.6021C>G (p.Leu2007=) c.9249C>G (p.Leu3083=) | |
| 8 | g.99853778C>T | CA462458181 | VPS13B | c.10464C>T (p.Leu3488=) n.10534C>T c.*6146C>T (n.*6146C>T) c.10389C>T (p.Leu3463=) c.10461C>T (p.Leu3487=) c.10386C>T (p.Leu3462=) c.10086C>T (p.Leu3362=) c.7350C>T (p.Leu2450=) c.6243C>T (p.Leu2081=) c.10269C>T (p.Leu3423=) c.6021C>T (p.Leu2007=) c.9249C>T (p.Leu3083=) | dbSNP |
| 8 | g.99853779A>C | CA371782649 | VPS13B | c.10465A>C (p.Ile3489Leu) n.10535A>C c.*6147A>C (n.*6147A>C) c.10390A>C (p.Ile3464Leu) c.10462A>C (p.Ile3488Leu) c.10387A>C (p.Ile3463Leu) c.10087A>C (p.Ile3363Leu) c.7351A>C (p.Ile2451Leu) c.6244A>C (p.Ile2082Leu) c.10270A>C (p.Ile3424Leu) c.6022A>C (p.Ile2008Leu) c.9250A>C (p.Ile3084Leu) | |
| 8 | g.99853779A>G | CA371782651 | VPS13B | c.10465A>G (p.Ile3489Val) n.10535A>G c.*6147A>G (n.*6147A>G) c.10390A>G (p.Ile3464Val) c.10462A>G (p.Ile3488Val) c.10387A>G (p.Ile3463Val) c.10087A>G (p.Ile3363Val) c.7351A>G (p.Ile2451Val) c.6244A>G (p.Ile2082Val) c.10270A>G (p.Ile3424Val) c.6022A>G (p.Ile2008Val) c.9250A>G (p.Ile3084Val) | gnomAD v4 |
| 8 | g.99853779A>T | CA371782653 | VPS13B | c.10465A>T (p.Ile3489Leu) n.10535A>T c.*6147A>T (n.*6147A>T) c.10390A>T (p.Ile3464Leu) c.10462A>T (p.Ile3488Leu) c.10387A>T (p.Ile3463Leu) c.10087A>T (p.Ile3363Leu) c.7351A>T (p.Ile2451Leu) c.6244A>T (p.Ile2082Leu) c.10270A>T (p.Ile3424Leu) c.6022A>T (p.Ile2008Leu) c.9250A>T (p.Ile3084Leu) | |
| 8 | g.99853780T>A | CA371782656 | VPS13B | c.10466T>A (p.Ile3489Lys) n.10536T>A c.*6148T>A (n.*6148T>A) c.10391T>A (p.Ile3464Lys) c.10463T>A (p.Ile3488Lys) c.10388T>A (p.Ile3463Lys) c.10088T>A (p.Ile3363Lys) c.7352T>A (p.Ile2451Lys) c.6245T>A (p.Ile2082Lys) c.10271T>A (p.Ile3424Lys) c.6023T>A (p.Ile2008Lys) c.9251T>A (p.Ile3084Lys) | |
| 8 | g.99853780T>C | CA371782661 | VPS13B | c.10466T>C (p.Ile3489Thr) n.10536T>C c.*6148T>C (n.*6148T>C) c.10391T>C (p.Ile3464Thr) c.10463T>C (p.Ile3488Thr) c.10388T>C (p.Ile3463Thr) c.10088T>C (p.Ile3363Thr) c.7352T>C (p.Ile2451Thr) c.6245T>C (p.Ile2082Thr) c.10271T>C (p.Ile3424Thr) c.6023T>C (p.Ile2008Thr) c.9251T>C (p.Ile3084Thr) | gnomAD v4 |
| 8 | g.99853780T>G | CA371782658 | VPS13B | c.10466T>G (p.Ile3489Arg) n.10536T>G c.*6148T>G (n.*6148T>G) c.10391T>G (p.Ile3464Arg) c.10463T>G (p.Ile3488Arg) c.10388T>G (p.Ile3463Arg) c.10088T>G (p.Ile3363Arg) c.7352T>G (p.Ile2451Arg) c.6245T>G (p.Ile2082Arg) c.10271T>G (p.Ile3424Arg) c.6023T>G (p.Ile2008Arg) c.9251T>G (p.Ile3084Arg) | |
| 8 | g.99853781A>C | CA462458182 | VPS13B | c.10467A>C (p.Ile3489=) n.10537A>C c.*6149A>C (n.*6149A>C) c.10392A>C (p.Ile3464=) c.10464A>C (p.Ile3488=) c.10389A>C (p.Ile3463=) c.10089A>C (p.Ile3363=) c.7353A>C (p.Ile2451=) c.6246A>C (p.Ile2082=) c.10272A>C (p.Ile3424=) c.6024A>C (p.Ile2008=) c.9252A>C (p.Ile3084=) | |
| 8 | g.99853781A>G | CA371782662 | VPS13B | c.10467A>G (p.Ile3489Met) n.10537A>G c.*6149A>G (n.*6149A>G) c.10392A>G (p.Ile3464Met) c.10464A>G (p.Ile3488Met) c.10389A>G (p.Ile3463Met) c.10089A>G (p.Ile3363Met) c.7353A>G (p.Ile2451Met) c.6246A>G (p.Ile2082Met) c.10272A>G (p.Ile3424Met) c.6024A>G (p.Ile2008Met) c.9252A>G (p.Ile3084Met) | gnomAD v4 |
| 8 | g.99853781A>T | CA462458183 | VPS13B | c.10467A>T (p.Ile3489=) n.10537A>T c.*6149A>T (n.*6149A>T) c.10392A>T (p.Ile3464=) c.10464A>T (p.Ile3488=) c.10389A>T (p.Ile3463=) c.10089A>T (p.Ile3363=) c.7353A>T (p.Ile2451=) c.6246A>T (p.Ile2082=) c.10272A>T (p.Ile3424=) c.6024A>T (p.Ile2008=) c.9252A>T (p.Ile3084=) | |
| 8 | g.99853782T>A | CA371782663 | VPS13B | c.10468T>A (p.Ser3490Thr) n.10538T>A c.*6150T>A (n.*6150T>A) c.10393T>A (p.Ser3465Thr) c.10465T>A (p.Ser3489Thr) c.10390T>A (p.Ser3464Thr) c.10090T>A (p.Ser3364Thr) c.7354T>A (p.Ser2452Thr) c.6247T>A (p.Ser2083Thr) c.10273T>A (p.Ser3425Thr) c.6025T>A (p.Ser2009Thr) c.9253T>A (p.Ser3085Thr) | |
| 8 | g.99853782T>C | CA371782664 | VPS13B | c.10468T>C (p.Ser3490Pro) n.10538T>C c.*6150T>C (n.*6150T>C) c.10393T>C (p.Ser3465Pro) c.10465T>C (p.Ser3489Pro) c.10390T>C (p.Ser3464Pro) c.10090T>C (p.Ser3364Pro) c.7354T>C (p.Ser2452Pro) c.6247T>C (p.Ser2083Pro) c.10273T>C (p.Ser3425Pro) c.6025T>C (p.Ser2009Pro) c.9253T>C (p.Ser3085Pro) | gnomAD v4 |
| 8 | g.99853782T>G | CA371782666 | VPS13B | c.10468T>G (p.Ser3490Ala) n.10538T>G c.*6150T>G (n.*6150T>G) c.10393T>G (p.Ser3465Ala) c.10465T>G (p.Ser3489Ala) c.10390T>G (p.Ser3464Ala) c.10090T>G (p.Ser3364Ala) c.7354T>G (p.Ser2452Ala) c.6247T>G (p.Ser2083Ala) c.10273T>G (p.Ser3425Ala) c.6025T>G (p.Ser2009Ala) c.9253T>G (p.Ser3085Ala) | |
| 8 | g.99853783C>A | CA371782669 | VPS13B | c.10469C>A (p.Ser3490Tyr) n.10539C>A c.*6151C>A (n.*6151C>A) c.10394C>A (p.Ser3465Tyr) c.10466C>A (p.Ser3489Tyr) c.10391C>A (p.Ser3464Tyr) c.10091C>A (p.Ser3364Tyr) c.7355C>A (p.Ser2452Tyr) c.6248C>A (p.Ser2083Tyr) c.10274C>A (p.Ser3425Tyr) c.6026C>A (p.Ser2009Tyr) c.9254C>A (p.Ser3085Tyr) | |
| 8 | g.99853783C>G | CA371782671 | VPS13B | c.10469C>G (p.Ser3490Cys) n.10539C>G c.*6151C>G (n.*6151C>G) c.10394C>G (p.Ser3465Cys) c.10466C>G (p.Ser3489Cys) c.10391C>G (p.Ser3464Cys) c.10091C>G (p.Ser3364Cys) c.7355C>G (p.Ser2452Cys) c.6248C>G (p.Ser2083Cys) c.10274C>G (p.Ser3425Cys) c.6026C>G (p.Ser2009Cys) c.9254C>G (p.Ser3085Cys) | |
| 8 | g.99853783C>T | CA371782674 | VPS13B | c.10469C>T (p.Ser3490Phe) n.10539C>T c.*6151C>T (n.*6151C>T) c.10394C>T (p.Ser3465Phe) c.10466C>T (p.Ser3489Phe) c.10391C>T (p.Ser3464Phe) c.10091C>T (p.Ser3364Phe) c.7355C>T (p.Ser2452Phe) c.6248C>T (p.Ser2083Phe) c.10274C>T (p.Ser3425Phe) c.6026C>T (p.Ser2009Phe) c.9254C>T (p.Ser3085Phe) | gnomAD v4 |
| 8 | g.99853784C>A | CA462458186 | VPS13B | c.10470C>A (p.Ser3490=) n.10540C>A c.*6152C>A (n.*6152C>A) c.10395C>A (p.Ser3465=) c.10467C>A (p.Ser3489=) c.10392C>A (p.Ser3464=) c.10092C>A (p.Ser3364=) c.7356C>A (p.Ser2452=) c.6249C>A (p.Ser2083=) c.10275C>A (p.Ser3425=) c.6027C>A (p.Ser2009=) c.9255C>A (p.Ser3085=) | |
| 8 | g.99853784C>G | CA462458187 | VPS13B | c.10470C>G (p.Ser3490=) n.10540C>G c.*6152C>G (n.*6152C>G) c.10395C>G (p.Ser3465=) c.10467C>G (p.Ser3489=) c.10392C>G (p.Ser3464=) c.10092C>G (p.Ser3364=) c.7356C>G (p.Ser2452=) c.6249C>G (p.Ser2083=) c.10275C>G (p.Ser3425=) c.6027C>G (p.Ser2009=) c.9255C>G (p.Ser3085=) | |
| 8 | g.99853784C>T | CA462458188 | VPS13B | c.10470C>T (p.Ser3490=) n.10540C>T c.*6152C>T (n.*6152C>T) c.10395C>T (p.Ser3465=) c.10467C>T (p.Ser3489=) c.10392C>T (p.Ser3464=) c.10092C>T (p.Ser3364=) c.7356C>T (p.Ser2452=) c.6249C>T (p.Ser2083=) c.10275C>T (p.Ser3425=) c.6027C>T (p.Ser2009=) c.9255C>T (p.Ser3085=) | |
| 8 | g.99853785A>C | CA371782677 | VPS13B | c.10471A>C (p.Asn3491His) n.10541A>C c.*6153A>C (n.*6153A>C) c.10396A>C (p.Asn3466His) c.10468A>C (p.Asn3490His) c.10393A>C (p.Asn3465His) c.10093A>C (p.Asn3365His) c.7357A>C (p.Asn2453His) c.6250A>C (p.Asn2084His) c.10276A>C (p.Asn3426His) c.6028A>C (p.Asn2010His) c.9256A>C (p.Asn3086His) | |
| 8 | g.99853785A>G | CA371782679 | VPS13B | c.10471A>G (p.Asn3491Asp) n.10541A>G c.*6153A>G (n.*6153A>G) c.10396A>G (p.Asn3466Asp) c.10468A>G (p.Asn3490Asp) c.10393A>G (p.Asn3465Asp) c.10093A>G (p.Asn3365Asp) c.7357A>G (p.Asn2453Asp) c.6250A>G (p.Asn2084Asp) c.10276A>G (p.Asn3426Asp) c.6028A>G (p.Asn2010Asp) c.9256A>G (p.Asn3086Asp) | gnomAD v4 |
| 8 | g.99853785A>T | CA371782681 | VPS13B | c.10471A>T (p.Asn3491Tyr) n.10541A>T c.*6153A>T (n.*6153A>T) c.10396A>T (p.Asn3466Tyr) c.10468A>T (p.Asn3490Tyr) c.10393A>T (p.Asn3465Tyr) c.10093A>T (p.Asn3365Tyr) c.7357A>T (p.Asn2453Tyr) c.6250A>T (p.Asn2084Tyr) c.10276A>T (p.Asn3426Tyr) c.6028A>T (p.Asn2010Tyr) c.9256A>T (p.Asn3086Tyr) | |
| 8 | g.99853786A>C | CA371782685 | VPS13B | c.10472A>C (p.Asn3491Thr) n.10542A>C c.*6154A>C (n.*6154A>C) c.10397A>C (p.Asn3466Thr) c.10469A>C (p.Asn3490Thr) c.10394A>C (p.Asn3465Thr) c.10094A>C (p.Asn3365Thr) c.7358A>C (p.Asn2453Thr) c.6251A>C (p.Asn2084Thr) c.10277A>C (p.Asn3426Thr) c.6029A>C (p.Asn2010Thr) c.9257A>C (p.Asn3086Thr) |