| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99835676C>A | CA371784603 | VPS13B | c.9955C>A (p.Pro3319Thr) n.10025C>A c.*5637C>A (n.*5637C>A) c.9880C>A (p.Pro3294Thr) c.9952C>A (p.Pro3318Thr) c.9877C>A (p.Pro3293Thr) c.9577C>A (p.Pro3193Thr) c.6841C>A (p.Pro2281Thr) c.5734C>A (p.Pro1912Thr) c.9760C>A (p.Pro3254Thr) c.5512C>A (p.Pro1838Thr) c.8740C>A (p.Pro2914Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99835676C>G | CA371784601 | VPS13B | c.9955C>G (p.Pro3319Ala) n.10025C>G c.*5637C>G (n.*5637C>G) c.9880C>G (p.Pro3294Ala) c.9952C>G (p.Pro3318Ala) c.9877C>G (p.Pro3293Ala) c.9577C>G (p.Pro3193Ala) c.6841C>G (p.Pro2281Ala) c.5734C>G (p.Pro1912Ala) c.9760C>G (p.Pro3254Ala) c.5512C>G (p.Pro1838Ala) c.8740C>G (p.Pro2914Ala) | |
| 8 | g.99835676C>T | CA371784599 | VPS13B | c.9955C>T (p.Pro3319Ser) n.10025C>T c.*5637C>T (n.*5637C>T) c.9880C>T (p.Pro3294Ser) c.9952C>T (p.Pro3318Ser) c.9877C>T (p.Pro3293Ser) c.9577C>T (p.Pro3193Ser) c.6841C>T (p.Pro2281Ser) c.5734C>T (p.Pro1912Ser) c.9760C>T (p.Pro3254Ser) c.5512C>T (p.Pro1838Ser) c.8740C>T (p.Pro2914Ser) | |
| 8 | g.99835676_99835677del | CA16041267 | VPS13B | c.9955_9956del (p.Pro3319SerfsTer3) n.10025_10026del c.*5637_*5638del (n.*5637_*5638del) c.9880_9881del (p.Pro3294SerfsTer3) c.9952_9953del (p.Pro3318SerfsTer3) c.9877_9878del (p.Pro3293SerfsTer3) c.9577_9578del (p.Pro3193SerfsTer3) c.6841_6842del (p.Pro2281SerfsTer3) c.5734_5735del (p.Pro1912SerfsTer3) c.9760_9761del (p.Pro3254SerfsTer3) c.5512_5513del (p.Pro1838SerfsTer3) c.8740_8741del (p.Pro2914SerfsTer3) | ClinVar dbSNP |
| 8 | g.99835677C>A | CA371784604 | VPS13B | c.9956C>A (p.Pro3319His) n.10026C>A c.*5638C>A (n.*5638C>A) c.9881C>A (p.Pro3294His) c.9953C>A (p.Pro3318His) c.9878C>A (p.Pro3293His) c.9578C>A (p.Pro3193His) c.6842C>A (p.Pro2281His) c.5735C>A (p.Pro1912His) c.9761C>A (p.Pro3254His) c.5513C>A (p.Pro1838His) c.8741C>A (p.Pro2914His) | dbSNP |
| 8 | g.99835677C>G | CA371784605 | VPS13B | c.9956C>G (p.Pro3319Arg) n.10026C>G c.*5638C>G (n.*5638C>G) c.9881C>G (p.Pro3294Arg) c.9953C>G (p.Pro3318Arg) c.9878C>G (p.Pro3293Arg) c.9578C>G (p.Pro3193Arg) c.6842C>G (p.Pro2281Arg) c.5735C>G (p.Pro1912Arg) c.9761C>G (p.Pro3254Arg) c.5513C>G (p.Pro1838Arg) c.8741C>G (p.Pro2914Arg) | |
| 8 | g.99835677C>T | CA371784606 | VPS13B | c.9956C>T (p.Pro3319Leu) n.10026C>T c.*5638C>T (n.*5638C>T) c.9881C>T (p.Pro3294Leu) c.9953C>T (p.Pro3318Leu) c.9878C>T (p.Pro3293Leu) c.9578C>T (p.Pro3193Leu) c.6842C>T (p.Pro2281Leu) c.5735C>T (p.Pro1912Leu) c.9761C>T (p.Pro3254Leu) c.5513C>T (p.Pro1838Leu) c.8741C>T (p.Pro2914Leu) | |
| 8 | g.99835678T>A | CA462340952 | VPS13B | c.9957T>A (p.Pro3319=) n.10027T>A c.*5639T>A (n.*5639T>A) c.9882T>A (p.Pro3294=) c.9954T>A (p.Pro3318=) c.9879T>A (p.Pro3293=) c.9579T>A (p.Pro3193=) c.6843T>A (p.Pro2281=) c.5736T>A (p.Pro1912=) c.9762T>A (p.Pro3254=) c.5514T>A (p.Pro1838=) c.8742T>A (p.Pro2914=) | |
| 8 | g.99835678T>C | CA462340955 | VPS13B | c.9957T>C (p.Pro3319=) n.10027T>C c.*5639T>C (n.*5639T>C) c.9882T>C (p.Pro3294=) c.9954T>C (p.Pro3318=) c.9879T>C (p.Pro3293=) c.9579T>C (p.Pro3193=) c.6843T>C (p.Pro2281=) c.5736T>C (p.Pro1912=) c.9762T>C (p.Pro3254=) c.5514T>C (p.Pro1838=) c.8742T>C (p.Pro2914=) | |
| 8 | g.99835678T>G | CA462340954 | VPS13B | c.9957T>G (p.Pro3319=) n.10027T>G c.*5639T>G (n.*5639T>G) c.9882T>G (p.Pro3294=) c.9954T>G (p.Pro3318=) c.9879T>G (p.Pro3293=) c.9579T>G (p.Pro3193=) c.6843T>G (p.Pro2281=) c.5736T>G (p.Pro1912=) c.9762T>G (p.Pro3254=) c.5514T>G (p.Pro1838=) c.8742T>G (p.Pro2914=) | |
| 8 | g.99835679C>A | CA371784609 | VPS13B | c.9958C>A (p.Leu3320Ile) n.10028C>A c.*5640C>A (n.*5640C>A) c.9883C>A (p.Leu3295Ile) c.9955C>A (p.Leu3319Ile) c.9880C>A (p.Leu3294Ile) c.9580C>A (p.Leu3194Ile) c.6844C>A (p.Leu2282Ile) c.5737C>A (p.Leu1913Ile) c.9763C>A (p.Leu3255Ile) c.5515C>A (p.Leu1839Ile) c.8743C>A (p.Leu2915Ile) | |
| 8 | g.99835679C>G | CA371784612 | VPS13B | c.9958C>G (p.Leu3320Val) n.10028C>G c.*5640C>G (n.*5640C>G) c.9883C>G (p.Leu3295Val) c.9955C>G (p.Leu3319Val) c.9880C>G (p.Leu3294Val) c.9580C>G (p.Leu3194Val) c.6844C>G (p.Leu2282Val) c.5737C>G (p.Leu1913Val) c.9763C>G (p.Leu3255Val) c.5515C>G (p.Leu1839Val) c.8743C>G (p.Leu2915Val) | |
| 8 | g.99835679C>T | CA462340958 | VPS13B | c.9958C>T (p.Leu3320=) n.10028C>T c.*5640C>T (n.*5640C>T) c.9883C>T (p.Leu3295=) c.9955C>T (p.Leu3319=) c.9880C>T (p.Leu3294=) c.9580C>T (p.Leu3194=) c.6844C>T (p.Leu2282=) c.5737C>T (p.Leu1913=) c.9763C>T (p.Leu3255=) c.5515C>T (p.Leu1839=) c.8743C>T (p.Leu2915=) | |
| 8 | g.99835680T>A | CA371784615 | VPS13B | c.9959T>A (p.Leu3320Gln) n.10029T>A c.*5641T>A (n.*5641T>A) c.9884T>A (p.Leu3295Gln) c.9956T>A (p.Leu3319Gln) c.9881T>A (p.Leu3294Gln) c.9581T>A (p.Leu3194Gln) c.6845T>A (p.Leu2282Gln) c.5738T>A (p.Leu1913Gln) c.9764T>A (p.Leu3255Gln) c.5516T>A (p.Leu1839Gln) c.8744T>A (p.Leu2915Gln) | |
| 8 | g.99835680T>C | CA371784617 | VPS13B | c.9959T>C (p.Leu3320Pro) n.10029T>C c.*5641T>C (n.*5641T>C) c.9884T>C (p.Leu3295Pro) c.9956T>C (p.Leu3319Pro) c.9881T>C (p.Leu3294Pro) c.9581T>C (p.Leu3194Pro) c.6845T>C (p.Leu2282Pro) c.5738T>C (p.Leu1913Pro) c.9764T>C (p.Leu3255Pro) c.5516T>C (p.Leu1839Pro) c.8744T>C (p.Leu2915Pro) | |
| 8 | g.99835680T>G | CA371784619 | VPS13B | c.9959T>G (p.Leu3320Arg) n.10029T>G c.*5641T>G (n.*5641T>G) c.9884T>G (p.Leu3295Arg) c.9956T>G (p.Leu3319Arg) c.9881T>G (p.Leu3294Arg) c.9581T>G (p.Leu3194Arg) c.6845T>G (p.Leu2282Arg) c.5738T>G (p.Leu1913Arg) c.9764T>G (p.Leu3255Arg) c.5516T>G (p.Leu1839Arg) c.8744T>G (p.Leu2915Arg) | |
| 8 | g.99835681A>C | CA462340962 | VPS13B | c.9960A>C (p.Leu3320=) n.10030A>C c.*5642A>C (n.*5642A>C) c.9885A>C (p.Leu3295=) c.9957A>C (p.Leu3319=) c.9882A>C (p.Leu3294=) c.9582A>C (p.Leu3194=) c.6846A>C (p.Leu2282=) c.5739A>C (p.Leu1913=) c.9765A>C (p.Leu3255=) c.5517A>C (p.Leu1839=) c.8745A>C (p.Leu2915=) | |
| 8 | g.99835681A>G | CA462340964 | VPS13B | c.9960A>G (p.Leu3320=) n.10030A>G c.*5642A>G (n.*5642A>G) c.9885A>G (p.Leu3295=) c.9957A>G (p.Leu3319=) c.9882A>G (p.Leu3294=) c.9582A>G (p.Leu3194=) c.6846A>G (p.Leu2282=) c.5739A>G (p.Leu1913=) c.9765A>G (p.Leu3255=) c.5517A>G (p.Leu1839=) c.8745A>G (p.Leu2915=) | |
| 8 | g.99835681A>T | CA462340965 | VPS13B | c.9960A>T (p.Leu3320=) n.10030A>T c.*5642A>T (n.*5642A>T) c.9885A>T (p.Leu3295=) c.9957A>T (p.Leu3319=) c.9882A>T (p.Leu3294=) c.9582A>T (p.Leu3194=) c.6846A>T (p.Leu2282=) c.5739A>T (p.Leu1913=) c.9765A>T (p.Leu3255=) c.5517A>T (p.Leu1839=) c.8745A>T (p.Leu2915=) | |
| 8 | g.99835682G>A | CA371784620 | VPS13B | c.9961G>A (p.Asp3321Asn) n.10031G>A c.*5643G>A (n.*5643G>A) c.9886G>A (p.Asp3296Asn) c.9958G>A (p.Asp3320Asn) c.9883G>A (p.Asp3295Asn) c.9583G>A (p.Asp3195Asn) c.6847G>A (p.Asp2283Asn) c.5740G>A (p.Asp1914Asn) c.9766G>A (p.Asp3256Asn) c.5518G>A (p.Asp1840Asn) c.8746G>A (p.Asp2916Asn) | |
| 8 | g.99835682G>C | CA371784621 | VPS13B | c.9961G>C (p.Asp3321His) n.10031G>C c.*5643G>C (n.*5643G>C) c.9886G>C (p.Asp3296His) c.9958G>C (p.Asp3320His) c.9883G>C (p.Asp3295His) c.9583G>C (p.Asp3195His) c.6847G>C (p.Asp2283His) c.5740G>C (p.Asp1914His) c.9766G>C (p.Asp3256His) c.5518G>C (p.Asp1840His) c.8746G>C (p.Asp2916His) | gnomAD v4 |
| 8 | g.99835682G>T | CA371784623 | VPS13B | c.9961G>T (p.Asp3321Tyr) n.10031G>T c.*5643G>T (n.*5643G>T) c.9886G>T (p.Asp3296Tyr) c.9958G>T (p.Asp3320Tyr) c.9883G>T (p.Asp3295Tyr) c.9583G>T (p.Asp3195Tyr) c.6847G>T (p.Asp2283Tyr) c.5740G>T (p.Asp1914Tyr) c.9766G>T (p.Asp3256Tyr) c.5518G>T (p.Asp1840Tyr) c.8746G>T (p.Asp2916Tyr) | |
| 8 | g.99835683A>C | CA371784635 | VPS13B | c.9962A>C (p.Asp3321Ala) n.10032A>C c.*5644A>C (n.*5644A>C) c.9887A>C (p.Asp3296Ala) c.9959A>C (p.Asp3320Ala) c.9884A>C (p.Asp3295Ala) c.9584A>C (p.Asp3195Ala) c.6848A>C (p.Asp2283Ala) c.5741A>C (p.Asp1914Ala) c.9767A>C (p.Asp3256Ala) c.5519A>C (p.Asp1840Ala) c.8747A>C (p.Asp2916Ala) | |
| 8 | g.99835683A>G | CA371784628 | VPS13B | c.9962A>G (p.Asp3321Gly) n.10032A>G c.*5644A>G (n.*5644A>G) c.9887A>G (p.Asp3296Gly) c.9959A>G (p.Asp3320Gly) c.9884A>G (p.Asp3295Gly) c.9584A>G (p.Asp3195Gly) c.6848A>G (p.Asp2283Gly) c.5741A>G (p.Asp1914Gly) c.9767A>G (p.Asp3256Gly) c.5519A>G (p.Asp1840Gly) c.8747A>G (p.Asp2916Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99835683A>T | CA371784626 | VPS13B | c.9962A>T (p.Asp3321Val) n.10032A>T c.*5644A>T (n.*5644A>T) c.9887A>T (p.Asp3296Val) c.9959A>T (p.Asp3320Val) c.9884A>T (p.Asp3295Val) c.9584A>T (p.Asp3195Val) c.6848A>T (p.Asp2283Val) c.5741A>T (p.Asp1914Val) c.9767A>T (p.Asp3256Val) c.5519A>T (p.Asp1840Val) c.8747A>T (p.Asp2916Val) | gnomAD v4 |
| 8 | g.99835684T>A | CA371784639 | VPS13B | c.9963T>A (p.Asp3321Glu) n.10033T>A c.*5645T>A (n.*5645T>A) c.9888T>A (p.Asp3296Glu) c.9960T>A (p.Asp3320Glu) c.9885T>A (p.Asp3295Glu) c.9585T>A (p.Asp3195Glu) c.6849T>A (p.Asp2283Glu) c.5742T>A (p.Asp1914Glu) c.9768T>A (p.Asp3256Glu) c.5520T>A (p.Asp1840Glu) c.8748T>A (p.Asp2916Glu) | gnomAD v4 |
| 8 | g.99835684T>C | CA462340972 | VPS13B | c.9963T>C (p.Asp3321=) n.10033T>C c.*5645T>C (n.*5645T>C) c.9888T>C (p.Asp3296=) c.9960T>C (p.Asp3320=) c.9885T>C (p.Asp3295=) c.9585T>C (p.Asp3195=) c.6849T>C (p.Asp2283=) c.5742T>C (p.Asp1914=) c.9768T>C (p.Asp3256=) c.5520T>C (p.Asp1840=) c.8748T>C (p.Asp2916=) | |
| 8 | g.99835684T>G | CA371784641 | VPS13B | c.9963T>G (p.Asp3321Glu) n.10033T>G c.*5645T>G (n.*5645T>G) c.9888T>G (p.Asp3296Glu) c.9960T>G (p.Asp3320Glu) c.9885T>G (p.Asp3295Glu) c.9585T>G (p.Asp3195Glu) c.6849T>G (p.Asp2283Glu) c.5742T>G (p.Asp1914Glu) c.9768T>G (p.Asp3256Glu) c.5520T>G (p.Asp1840Glu) c.8748T>G (p.Asp2916Glu) | |
| 8 | g.99835685G>A | CA4824818 | VPS13B | c.9964G>A (p.Glu3322Lys) n.10034G>A c.*5646G>A (n.*5646G>A) c.9889G>A (p.Glu3297Lys) c.9961G>A (p.Glu3321Lys) c.9886G>A (p.Glu3296Lys) c.9586G>A (p.Glu3196Lys) c.6850G>A (p.Glu2284Lys) c.5743G>A (p.Glu1915Lys) c.9769G>A (p.Glu3257Lys) c.5521G>A (p.Glu1841Lys) c.8749G>A (p.Glu2917Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99835685G>C | CA371784646 | VPS13B | c.9964G>C (p.Glu3322Gln) n.10034G>C c.*5646G>C (n.*5646G>C) c.9889G>C (p.Glu3297Gln) c.9961G>C (p.Glu3321Gln) c.9886G>C (p.Glu3296Gln) c.9586G>C (p.Glu3196Gln) c.6850G>C (p.Glu2284Gln) c.5743G>C (p.Glu1915Gln) c.9769G>C (p.Glu3257Gln) c.5521G>C (p.Glu1841Gln) c.8749G>C (p.Glu2917Gln) | |
| 8 | g.99835685G>T | CA371784650 | VPS13B | c.9964G>T (p.Glu3322Ter) n.10034G>T c.*5646G>T (n.*5646G>T) c.9889G>T (p.Glu3297Ter) c.9961G>T (p.Glu3321Ter) c.9886G>T (p.Glu3296Ter) c.9586G>T (p.Glu3196Ter) c.6850G>T (p.Glu2284Ter) c.5743G>T (p.Glu1915Ter) c.9769G>T (p.Glu3257Ter) c.5521G>T (p.Glu1841Ter) c.8749G>T (p.Glu2917Ter) | |
| 8 | g.99835686A>C | CA371784651 | VPS13B | c.9965A>C (p.Glu3322Ala) n.10035A>C c.*5647A>C (n.*5647A>C) c.9890A>C (p.Glu3297Ala) c.9962A>C (p.Glu3321Ala) c.9887A>C (p.Glu3296Ala) c.9587A>C (p.Glu3196Ala) c.6851A>C (p.Glu2284Ala) c.5744A>C (p.Glu1915Ala) c.9770A>C (p.Glu3257Ala) c.5522A>C (p.Glu1841Ala) c.8750A>C (p.Glu2917Ala) | |
| 8 | g.99835686A>G | CA371784652 | VPS13B | c.9965A>G (p.Glu3322Gly) n.10035A>G c.*5647A>G (n.*5647A>G) c.9890A>G (p.Glu3297Gly) c.9962A>G (p.Glu3321Gly) c.9887A>G (p.Glu3296Gly) c.9587A>G (p.Glu3196Gly) c.6851A>G (p.Glu2284Gly) c.5744A>G (p.Glu1915Gly) c.9770A>G (p.Glu3257Gly) c.5522A>G (p.Glu1841Gly) c.8750A>G (p.Glu2917Gly) | |
| 8 | g.99835686A>T | CA371784653 | VPS13B | c.9965A>T (p.Glu3322Val) n.10035A>T c.*5647A>T (n.*5647A>T) c.9890A>T (p.Glu3297Val) c.9962A>T (p.Glu3321Val) c.9887A>T (p.Glu3296Val) c.9587A>T (p.Glu3196Val) c.6851A>T (p.Glu2284Val) c.5744A>T (p.Glu1915Val) c.9770A>T (p.Glu3257Val) c.5522A>T (p.Glu1841Val) c.8750A>T (p.Glu2917Val) | |
| 8 | g.99835687A>C | CA371784654 | VPS13B | c.9966A>C (p.Glu3322Asp) n.10036A>C c.*5648A>C (n.*5648A>C) c.9891A>C (p.Glu3297Asp) c.9963A>C (p.Glu3321Asp) c.9888A>C (p.Glu3296Asp) c.9588A>C (p.Glu3196Asp) c.6852A>C (p.Glu2284Asp) c.5745A>C (p.Glu1915Asp) c.9771A>C (p.Glu3257Asp) c.5523A>C (p.Glu1841Asp) c.8751A>C (p.Glu2917Asp) | |
| 8 | g.99835687A>G | CA462340979 | VPS13B | c.9966A>G (p.Glu3322=) n.10036A>G c.*5648A>G (n.*5648A>G) c.9891A>G (p.Glu3297=) c.9963A>G (p.Glu3321=) c.9888A>G (p.Glu3296=) c.9588A>G (p.Glu3196=) c.6852A>G (p.Glu2284=) c.5745A>G (p.Glu1915=) c.9771A>G (p.Glu3257=) c.5523A>G (p.Glu1841=) c.8751A>G (p.Glu2917=) | |
| 8 | g.99835687A>T | CA371784655 | VPS13B | c.9966A>T (p.Glu3322Asp) n.10036A>T c.*5648A>T (n.*5648A>T) c.9891A>T (p.Glu3297Asp) c.9963A>T (p.Glu3321Asp) c.9888A>T (p.Glu3296Asp) c.9588A>T (p.Glu3196Asp) c.6852A>T (p.Glu2284Asp) c.5745A>T (p.Glu1915Asp) c.9771A>T (p.Glu3257Asp) c.5523A>T (p.Glu1841Asp) c.8751A>T (p.Glu2917Asp) | |
| 8 | g.99835687_99835688insCCTCTAGA | CA2573143609 | VPS13B | c.9966_9967insCCTCTAGA (p.Val3323ProfsTer4) n.10036_10037insCCTCTAGA c.*5648_*5649insCCTCTAGA (n.*5648_*5649insCCTCTAGA) c.9891_9892insCCTCTAGA (p.Val3298ProfsTer4) c.9963_9964insCCTCTAGA (p.Val3322ProfsTer4) c.9888_9889insCCTCTAGA (p.Val3297ProfsTer4) c.9588_9589insCCTCTAGA (p.Val3197ProfsTer4) c.6852_6853insCCTCTAGA (p.Val2285ProfsTer4) c.5745_5746insCCTCTAGA (p.Val1916ProfsTer4) c.9771_9772insCCTCTAGA (p.Val3258ProfsTer4) c.5523_5524insCCTCTAGA (p.Val1842ProfsTer4) c.8751_8752insCCTCTAGA (p.Val2918ProfsTer4) | ClinVar dbSNP |
| 8 | g.99835688G>A | CA371784656 | VPS13B | c.9967G>A (p.Val3323Ile) n.10037G>A c.*5649G>A (n.*5649G>A) c.9892G>A (p.Val3298Ile) c.9964G>A (p.Val3322Ile) c.9889G>A (p.Val3297Ile) c.9589G>A (p.Val3197Ile) c.6853G>A (p.Val2285Ile) c.5746G>A (p.Val1916Ile) c.9772G>A (p.Val3258Ile) c.5524G>A (p.Val1842Ile) c.8752G>A (p.Val2918Ile) | |
| 8 | g.99835688G>C | CA371784665 | VPS13B | c.9967G>C (p.Val3323Leu) n.10037G>C c.*5649G>C (n.*5649G>C) c.9892G>C (p.Val3298Leu) c.9964G>C (p.Val3322Leu) c.9889G>C (p.Val3297Leu) c.9589G>C (p.Val3197Leu) c.6853G>C (p.Val2285Leu) c.5746G>C (p.Val1916Leu) c.9772G>C (p.Val3258Leu) c.5524G>C (p.Val1842Leu) c.8752G>C (p.Val2918Leu) | |
| 8 | g.99835688G>T | CA371784669 | VPS13B | c.9967G>T (p.Val3323Leu) n.10037G>T c.*5649G>T (n.*5649G>T) c.9892G>T (p.Val3298Leu) c.9964G>T (p.Val3322Leu) c.9889G>T (p.Val3297Leu) c.9589G>T (p.Val3197Leu) c.6853G>T (p.Val2285Leu) c.5746G>T (p.Val1916Leu) c.9772G>T (p.Val3258Leu) c.5524G>T (p.Val1842Leu) c.8752G>T (p.Val2918Leu) | |
| 8 | g.99835689T>A | CA371784675 | VPS13B | c.9968T>A (p.Val3323Glu) n.10038T>A c.*5650T>A (n.*5650T>A) c.9893T>A (p.Val3298Glu) c.9965T>A (p.Val3322Glu) c.9890T>A (p.Val3297Glu) c.9590T>A (p.Val3197Glu) c.6854T>A (p.Val2285Glu) c.5747T>A (p.Val1916Glu) c.9773T>A (p.Val3258Glu) c.5525T>A (p.Val1842Glu) c.8753T>A (p.Val2918Glu) | |
| 8 | g.99835689T>C | CA371784672 | VPS13B | c.9968T>C (p.Val3323Ala) n.10038T>C c.*5650T>C (n.*5650T>C) c.9893T>C (p.Val3298Ala) c.9965T>C (p.Val3322Ala) c.9890T>C (p.Val3297Ala) c.9590T>C (p.Val3197Ala) c.6854T>C (p.Val2285Ala) c.5747T>C (p.Val1916Ala) c.9773T>C (p.Val3258Ala) c.5525T>C (p.Val1842Ala) c.8753T>C (p.Val2918Ala) | dbSNP gnomAD v2 |
| 8 | g.99835689T>G | CA371784674 | VPS13B | c.9968T>G (p.Val3323Gly) n.10038T>G c.*5650T>G (n.*5650T>G) c.9893T>G (p.Val3298Gly) c.9965T>G (p.Val3322Gly) c.9890T>G (p.Val3297Gly) c.9590T>G (p.Val3197Gly) c.6854T>G (p.Val2285Gly) c.5747T>G (p.Val1916Gly) c.9773T>G (p.Val3258Gly) c.5525T>G (p.Val1842Gly) c.8753T>G (p.Val2918Gly) | |
| 8 | g.99835690A>C | CA462340985 | VPS13B | c.9969A>C (p.Val3323=) n.10039A>C c.*5651A>C (n.*5651A>C) c.9894A>C (p.Val3298=) c.9966A>C (p.Val3322=) c.9891A>C (p.Val3297=) c.9591A>C (p.Val3197=) c.6855A>C (p.Val2285=) c.5748A>C (p.Val1916=) c.9774A>C (p.Val3258=) c.5526A>C (p.Val1842=) c.8754A>C (p.Val2918=) | |
| 8 | g.99835690A>G | CA462340986 | VPS13B | c.9969A>G (p.Val3323=) n.10039A>G c.*5651A>G (n.*5651A>G) c.9894A>G (p.Val3298=) c.9966A>G (p.Val3322=) c.9891A>G (p.Val3297=) c.9591A>G (p.Val3197=) c.6855A>G (p.Val2285=) c.5748A>G (p.Val1916=) c.9774A>G (p.Val3258=) c.5526A>G (p.Val1842=) c.8754A>G (p.Val2918=) | gnomAD v4 |
| 8 | g.99835690A>T | CA462340988 | VPS13B | c.9969A>T (p.Val3323=) n.10039A>T c.*5651A>T (n.*5651A>T) c.9894A>T (p.Val3298=) c.9966A>T (p.Val3322=) c.9891A>T (p.Val3297=) c.9591A>T (p.Val3197=) c.6855A>T (p.Val2285=) c.5748A>T (p.Val1916=) c.9774A>T (p.Val3258=) c.5526A>T (p.Val1842=) c.8754A>T (p.Val2918=) | |
| 8 | g.99835691A>C | CA371784677 | VPS13B | c.9970A>C (p.Thr3324Pro) n.10040A>C c.*5652A>C (n.*5652A>C) c.9895A>C (p.Thr3299Pro) c.9967A>C (p.Thr3323Pro) c.9892A>C (p.Thr3298Pro) c.9592A>C (p.Thr3198Pro) c.6856A>C (p.Thr2286Pro) c.5749A>C (p.Thr1917Pro) c.9775A>C (p.Thr3259Pro) c.5527A>C (p.Thr1843Pro) c.8755A>C (p.Thr2919Pro) | |
| 8 | g.99835691A>G | CA371784681 | VPS13B | c.9970A>G (p.Thr3324Ala) n.10040A>G c.*5652A>G (n.*5652A>G) c.9895A>G (p.Thr3299Ala) c.9967A>G (p.Thr3323Ala) c.9892A>G (p.Thr3298Ala) c.9592A>G (p.Thr3198Ala) c.6856A>G (p.Thr2286Ala) c.5749A>G (p.Thr1917Ala) c.9775A>G (p.Thr3259Ala) c.5527A>G (p.Thr1843Ala) c.8755A>G (p.Thr2919Ala) | gnomAD v4 |
| 8 | g.99835691A>T | CA371784683 | VPS13B | c.9970A>T (p.Thr3324Ser) n.10040A>T c.*5652A>T (n.*5652A>T) c.9895A>T (p.Thr3299Ser) c.9967A>T (p.Thr3323Ser) c.9892A>T (p.Thr3298Ser) c.9592A>T (p.Thr3198Ser) c.6856A>T (p.Thr2286Ser) c.5749A>T (p.Thr1917Ser) c.9775A>T (p.Thr3259Ser) c.5527A>T (p.Thr1843Ser) c.8755A>T (p.Thr2919Ser) |