| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152395571T>A | CA366111180 | SYNE1 | c.7657A>T (p.Lys2553Ter) c.7678A>T (p.Lys2560Ter) c.7723A>T (p.Lys2575Ter) n.7875A>T c.7627A>T (p.Lys2543Ter) c.7606A>T (p.Lys2536Ter) c.7519A>T (p.Lys2507Ter) c.7513A>T (p.Lys2505Ter) c.5953A>T (p.Lys1985Ter) c.5446A>T (p.Lys1816Ter) c.913A>T (p.Lys305Ter) c.7651A>T (p.Lys2551Ter) c.7600A>T (p.Lys2534Ter) n.8161A>T | |
| 6 | g.152395571T>C | CA4057761 | SYNE1 | c.7657A>G (p.Lys2553Glu) c.7678A>G (p.Lys2560Glu) c.7723A>G (p.Lys2575Glu) n.7875A>G c.7627A>G (p.Lys2543Glu) c.7606A>G (p.Lys2536Glu) c.7519A>G (p.Lys2507Glu) c.7513A>G (p.Lys2505Glu) c.5953A>G (p.Lys1985Glu) c.5446A>G (p.Lys1816Glu) c.913A>G (p.Lys305Glu) c.7651A>G (p.Lys2551Glu) c.7600A>G (p.Lys2534Glu) n.8161A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.152395571T>G | CA366111181 | SYNE1 | c.7657A>C (p.Lys2553Gln) c.7678A>C (p.Lys2560Gln) c.7723A>C (p.Lys2575Gln) n.7875A>C c.7627A>C (p.Lys2543Gln) c.7606A>C (p.Lys2536Gln) c.7519A>C (p.Lys2507Gln) c.7513A>C (p.Lys2505Gln) c.5953A>C (p.Lys1985Gln) c.5446A>C (p.Lys1816Gln) c.913A>C (p.Lys305Gln) c.7651A>C (p.Lys2551Gln) c.7600A>C (p.Lys2534Gln) n.8161A>C | |
| 6 | g.152395571T= | CA1673313209 | SYNE1 | c.7657A= (p.Lys2553=) c.7678A= (p.Lys2560=) c.7723A= (p.Lys2575=) n.7875A= c.7627A= (p.Lys2543=) c.7606A= (p.Lys2536=) c.7519A= (p.Lys2507=) c.7513A= (p.Lys2505=) c.5953A= (p.Lys1985=) c.5446A= (p.Lys1816=) c.913A= (p.Lys305=) c.7651A= (p.Lys2551=) c.7600A= (p.Lys2534=) n.8161A= | |
| 6 | g.152395572C>A | CA366111183 | SYNE1 | c.7656G>T (p.Glu2552Asp) c.7677G>T (p.Glu2559Asp) c.7722G>T (p.Glu2574Asp) n.7874G>T c.7626G>T (p.Glu2542Asp) c.7605G>T (p.Glu2535Asp) c.7518G>T (p.Glu2506Asp) c.7512G>T (p.Glu2504Asp) c.5952G>T (p.Glu1984Asp) c.5445G>T (p.Glu1815Asp) c.912G>T (p.Glu304Asp) c.7650G>T (p.Glu2550Asp) c.7599G>T (p.Glu2533Asp) n.8160G>T | |
| 6 | g.152395572C>G | CA366111182 | SYNE1 | c.7656G>C (p.Glu2552Asp) c.7677G>C (p.Glu2559Asp) c.7722G>C (p.Glu2574Asp) n.7874G>C c.7626G>C (p.Glu2542Asp) c.7605G>C (p.Glu2535Asp) c.7518G>C (p.Glu2506Asp) c.7512G>C (p.Glu2504Asp) c.5952G>C (p.Glu1984Asp) c.5445G>C (p.Glu1815Asp) c.912G>C (p.Glu304Asp) c.7650G>C (p.Glu2550Asp) c.7599G>C (p.Glu2533Asp) n.8160G>C | gnomAD v4 |
| 6 | g.152395572C>T | CA452751575 | SYNE1 | c.7656G>A (p.Glu2552=) c.7677G>A (p.Glu2559=) c.7722G>A (p.Glu2574=) n.7874G>A c.7626G>A (p.Glu2542=) c.7605G>A (p.Glu2535=) c.7518G>A (p.Glu2506=) c.7512G>A (p.Glu2504=) c.5952G>A (p.Glu1984=) c.5445G>A (p.Glu1815=) c.912G>A (p.Glu304=) c.7650G>A (p.Glu2550=) c.7599G>A (p.Glu2533=) n.8160G>A | |
| 6 | g.152395572_152395574del | CA2680833318 | SYNE1 | c.7654_7656del (p.Glu2552del) c.7675_7677del (p.Glu2559del) c.7720_7722del (p.Glu2574del) n.7872_7874del c.7624_7626del (p.Glu2542del) c.7603_7605del (p.Glu2535del) c.7516_7518del (p.Glu2506del) c.7510_7512del (p.Glu2504del) c.5950_5952del (p.Glu1984del) c.5443_5445del (p.Glu1815del) c.910_912del (p.Glu304del) c.7648_7650del (p.Glu2550del) c.7597_7599del (p.Glu2533del) n.8158_8160del | gnomAD v4 |
| 6 | g.152395573T>A | CA366111184 | SYNE1 | c.7655A>T (p.Glu2552Val) c.7676A>T (p.Glu2559Val) c.7721A>T (p.Glu2574Val) n.7873A>T c.7625A>T (p.Glu2542Val) c.7604A>T (p.Glu2535Val) c.7517A>T (p.Glu2506Val) c.7511A>T (p.Glu2504Val) c.5951A>T (p.Glu1984Val) c.5444A>T (p.Glu1815Val) c.911A>T (p.Glu304Val) c.7649A>T (p.Glu2550Val) c.7598A>T (p.Glu2533Val) n.8159A>T | |
| 6 | g.152395573T>C | CA366111185 | SYNE1 | c.7655A>G (p.Glu2552Gly) c.7676A>G (p.Glu2559Gly) c.7721A>G (p.Glu2574Gly) n.7873A>G c.7625A>G (p.Glu2542Gly) c.7604A>G (p.Glu2535Gly) c.7517A>G (p.Glu2506Gly) c.7511A>G (p.Glu2504Gly) c.5951A>G (p.Glu1984Gly) c.5444A>G (p.Glu1815Gly) c.911A>G (p.Glu304Gly) c.7649A>G (p.Glu2550Gly) c.7598A>G (p.Glu2533Gly) n.8159A>G | gnomAD v4 |
| 6 | g.152395573T>G | CA366111186 | SYNE1 | c.7655A>C (p.Glu2552Ala) c.7676A>C (p.Glu2559Ala) c.7721A>C (p.Glu2574Ala) n.7873A>C c.7625A>C (p.Glu2542Ala) c.7604A>C (p.Glu2535Ala) c.7517A>C (p.Glu2506Ala) c.7511A>C (p.Glu2504Ala) c.5951A>C (p.Glu1984Ala) c.5444A>C (p.Glu1815Ala) c.911A>C (p.Glu304Ala) c.7649A>C (p.Glu2550Ala) c.7598A>C (p.Glu2533Ala) n.8159A>C | |
| 6 | g.152395574C>A | CA366111187 | SYNE1 | c.7654G>T (p.Glu2552Ter) c.7675G>T (p.Glu2559Ter) c.7720G>T (p.Glu2574Ter) n.7872G>T c.7624G>T (p.Glu2542Ter) c.7603G>T (p.Glu2535Ter) c.7516G>T (p.Glu2506Ter) c.7510G>T (p.Glu2504Ter) c.5950G>T (p.Glu1984Ter) c.5443G>T (p.Glu1815Ter) c.910G>T (p.Glu304Ter) c.7648G>T (p.Glu2550Ter) c.7597G>T (p.Glu2533Ter) n.8158G>T | |
| 6 | g.152395574C= | CA1673313210 | SYNE1 | c.7654G= (p.Glu2552=) c.7675G= (p.Glu2559=) c.7720G= (p.Glu2574=) n.7872G= c.7624G= (p.Glu2542=) c.7603G= (p.Glu2535=) c.7516G= (p.Glu2506=) c.7510G= (p.Glu2504=) c.5950G= (p.Glu1984=) c.5443G= (p.Glu1815=) c.910G= (p.Glu304=) c.7648G= (p.Glu2550=) c.7597G= (p.Glu2533=) n.8158G= | |
| 6 | g.152395574C>G | CA366111188 | SYNE1 | c.7654G>C (p.Glu2552Gln) c.7675G>C (p.Glu2559Gln) c.7720G>C (p.Glu2574Gln) n.7872G>C c.7624G>C (p.Glu2542Gln) c.7603G>C (p.Glu2535Gln) c.7516G>C (p.Glu2506Gln) c.7510G>C (p.Glu2504Gln) c.5950G>C (p.Glu1984Gln) c.5443G>C (p.Glu1815Gln) c.910G>C (p.Glu304Gln) c.7648G>C (p.Glu2550Gln) c.7597G>C (p.Glu2533Gln) n.8158G>C | |
| 6 | g.152395574C>T | CA366111190 | SYNE1 | c.7654G>A (p.Glu2552Lys) c.7675G>A (p.Glu2559Lys) c.7720G>A (p.Glu2574Lys) n.7872G>A c.7624G>A (p.Glu2542Lys) c.7603G>A (p.Glu2535Lys) c.7516G>A (p.Glu2506Lys) c.7510G>A (p.Glu2504Lys) c.5950G>A (p.Glu1984Lys) c.5443G>A (p.Glu1815Lys) c.910G>A (p.Glu304Lys) c.7648G>A (p.Glu2550Lys) c.7597G>A (p.Glu2533Lys) n.8158G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152395575A>C | CA452751578 | SYNE1 | c.7653T>G (p.Pro2551=) c.7674T>G (p.Pro2558=) c.7719T>G (p.Pro2573=) n.7871T>G c.7623T>G (p.Pro2541=) c.7602T>G (p.Pro2534=) c.7515T>G (p.Pro2505=) c.7509T>G (p.Pro2503=) c.5949T>G (p.Pro1983=) c.5442T>G (p.Pro1814=) c.909T>G (p.Pro303=) c.7647T>G (p.Pro2549=) c.7596T>G (p.Pro2532=) n.8157T>G | |
| 6 | g.152395575A>G | CA452751580 | SYNE1 | c.7653T>C (p.Pro2551=) c.7674T>C (p.Pro2558=) c.7719T>C (p.Pro2573=) n.7871T>C c.7623T>C (p.Pro2541=) c.7602T>C (p.Pro2534=) c.7515T>C (p.Pro2505=) c.7509T>C (p.Pro2503=) c.5949T>C (p.Pro1983=) c.5442T>C (p.Pro1814=) c.909T>C (p.Pro303=) c.7647T>C (p.Pro2549=) c.7596T>C (p.Pro2532=) n.8157T>C | gnomAD v4 |
| 6 | g.152395575A>T | CA452751581 | SYNE1 | c.7653T>A (p.Pro2551=) c.7674T>A (p.Pro2558=) c.7719T>A (p.Pro2573=) n.7871T>A c.7623T>A (p.Pro2541=) c.7602T>A (p.Pro2534=) c.7515T>A (p.Pro2505=) c.7509T>A (p.Pro2503=) c.5949T>A (p.Pro1983=) c.5442T>A (p.Pro1814=) c.909T>A (p.Pro303=) c.7647T>A (p.Pro2549=) c.7596T>A (p.Pro2532=) n.8157T>A | |
| 6 | g.152395576G>A | CA366111197 | SYNE1 | c.7652C>T (p.Pro2551Leu) c.7673C>T (p.Pro2558Leu) c.7718C>T (p.Pro2573Leu) n.7870C>T c.7622C>T (p.Pro2541Leu) c.7601C>T (p.Pro2534Leu) c.7514C>T (p.Pro2505Leu) c.7508C>T (p.Pro2503Leu) c.5948C>T (p.Pro1983Leu) c.5441C>T (p.Pro1814Leu) c.908C>T (p.Pro303Leu) c.7646C>T (p.Pro2549Leu) c.7595C>T (p.Pro2532Leu) n.8156C>T | |
| 6 | g.152395576G>C | CA366111192 | SYNE1 | c.7652C>G (p.Pro2551Arg) c.7673C>G (p.Pro2558Arg) c.7718C>G (p.Pro2573Arg) n.7870C>G c.7622C>G (p.Pro2541Arg) c.7601C>G (p.Pro2534Arg) c.7514C>G (p.Pro2505Arg) c.7508C>G (p.Pro2503Arg) c.5948C>G (p.Pro1983Arg) c.5441C>G (p.Pro1814Arg) c.908C>G (p.Pro303Arg) c.7646C>G (p.Pro2549Arg) c.7595C>G (p.Pro2532Arg) n.8156C>G | |
| 6 | g.152395576G>T | CA366111195 | SYNE1 | c.7652C>A (p.Pro2551His) c.7673C>A (p.Pro2558His) c.7718C>A (p.Pro2573His) n.7870C>A c.7622C>A (p.Pro2541His) c.7601C>A (p.Pro2534His) c.7514C>A (p.Pro2505His) c.7508C>A (p.Pro2503His) c.5948C>A (p.Pro1983His) c.5441C>A (p.Pro1814His) c.908C>A (p.Pro303His) c.7646C>A (p.Pro2549His) c.7595C>A (p.Pro2532His) n.8156C>A | |
| 6 | g.152395577G>A | CA366111199 | SYNE1 | c.7651C>T (p.Pro2551Ser) c.7672C>T (p.Pro2558Ser) c.7717C>T (p.Pro2573Ser) n.7869C>T c.7621C>T (p.Pro2541Ser) c.7600C>T (p.Pro2534Ser) c.7513C>T (p.Pro2505Ser) c.7507C>T (p.Pro2503Ser) c.5947C>T (p.Pro1983Ser) c.5440C>T (p.Pro1814Ser) c.907C>T (p.Pro303Ser) c.7645C>T (p.Pro2549Ser) c.7594C>T (p.Pro2532Ser) n.8155C>T | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152395577G>C | CA366111201 | SYNE1 | c.7651C>G (p.Pro2551Ala) c.7672C>G (p.Pro2558Ala) c.7717C>G (p.Pro2573Ala) n.7869C>G c.7621C>G (p.Pro2541Ala) c.7600C>G (p.Pro2534Ala) c.7513C>G (p.Pro2505Ala) c.7507C>G (p.Pro2503Ala) c.5947C>G (p.Pro1983Ala) c.5440C>G (p.Pro1814Ala) c.907C>G (p.Pro303Ala) c.7645C>G (p.Pro2549Ala) c.7594C>G (p.Pro2532Ala) n.8155C>G | |
| 6 | g.152395577G>T | CA366111202 | SYNE1 | c.7651C>A (p.Pro2551Thr) c.7672C>A (p.Pro2558Thr) c.7717C>A (p.Pro2573Thr) n.7869C>A c.7621C>A (p.Pro2541Thr) c.7600C>A (p.Pro2534Thr) c.7513C>A (p.Pro2505Thr) c.7507C>A (p.Pro2503Thr) c.5947C>A (p.Pro1983Thr) c.5440C>A (p.Pro1814Thr) c.907C>A (p.Pro303Thr) c.7645C>A (p.Pro2549Thr) c.7594C>A (p.Pro2532Thr) n.8155C>A | |
| 6 | g.152395578A>C | CA366111204 | SYNE1 | c.7650T>G (p.Ile2550Met) c.7671T>G (p.Ile2557Met) c.7716T>G (p.Ile2572Met) n.7868T>G c.7620T>G (p.Ile2540Met) c.7599T>G (p.Ile2533Met) c.7512T>G (p.Ile2504Met) c.7506T>G (p.Ile2502Met) c.5946T>G (p.Ile1982Met) c.5439T>G (p.Ile1813Met) c.906T>G (p.Ile302Met) c.7644T>G (p.Ile2548Met) c.7593T>G (p.Ile2531Met) n.8154T>G | |
| 6 | g.152395578A>G | CA452751583 | SYNE1 | c.7650T>C (p.Ile2550=) c.7671T>C (p.Ile2557=) c.7716T>C (p.Ile2572=) n.7868T>C c.7620T>C (p.Ile2540=) c.7599T>C (p.Ile2533=) c.7512T>C (p.Ile2504=) c.7506T>C (p.Ile2502=) c.5946T>C (p.Ile1982=) c.5439T>C (p.Ile1813=) c.906T>C (p.Ile302=) c.7644T>C (p.Ile2548=) c.7593T>C (p.Ile2531=) n.8154T>C | |
| 6 | g.152395578A>T | CA452751584 | SYNE1 | c.7650T>A (p.Ile2550=) c.7671T>A (p.Ile2557=) c.7716T>A (p.Ile2572=) n.7868T>A c.7620T>A (p.Ile2540=) c.7599T>A (p.Ile2533=) c.7512T>A (p.Ile2504=) c.7506T>A (p.Ile2502=) c.5946T>A (p.Ile1982=) c.5439T>A (p.Ile1813=) c.906T>A (p.Ile302=) c.7644T>A (p.Ile2548=) c.7593T>A (p.Ile2531=) n.8154T>A | |
| 6 | g.152395579A>C | CA366111207 | SYNE1 | c.7649T>G (p.Ile2550Ser) c.7670T>G (p.Ile2557Ser) c.7715T>G (p.Ile2572Ser) n.7867T>G c.7619T>G (p.Ile2540Ser) c.7598T>G (p.Ile2533Ser) c.7511T>G (p.Ile2504Ser) c.7505T>G (p.Ile2502Ser) c.5945T>G (p.Ile1982Ser) c.5438T>G (p.Ile1813Ser) c.905T>G (p.Ile302Ser) c.7643T>G (p.Ile2548Ser) c.7592T>G (p.Ile2531Ser) n.8153T>G | |
| 6 | g.152395579A>G | CA366111208 | SYNE1 | c.7649T>C (p.Ile2550Thr) c.7670T>C (p.Ile2557Thr) c.7715T>C (p.Ile2572Thr) n.7867T>C c.7619T>C (p.Ile2540Thr) c.7598T>C (p.Ile2533Thr) c.7511T>C (p.Ile2504Thr) c.7505T>C (p.Ile2502Thr) c.5945T>C (p.Ile1982Thr) c.5438T>C (p.Ile1813Thr) c.905T>C (p.Ile302Thr) c.7643T>C (p.Ile2548Thr) c.7592T>C (p.Ile2531Thr) n.8153T>C | |
| 6 | g.152395579A>T | CA366111215 | SYNE1 | c.7649T>A (p.Ile2550Asn) c.7670T>A (p.Ile2557Asn) c.7715T>A (p.Ile2572Asn) n.7867T>A c.7619T>A (p.Ile2540Asn) c.7598T>A (p.Ile2533Asn) c.7511T>A (p.Ile2504Asn) c.7505T>A (p.Ile2502Asn) c.5945T>A (p.Ile1982Asn) c.5438T>A (p.Ile1813Asn) c.905T>A (p.Ile302Asn) c.7643T>A (p.Ile2548Asn) c.7592T>A (p.Ile2531Asn) n.8153T>A | |
| 6 | g.152395580T>A | CA366111217 | SYNE1 | c.7648A>T (p.Ile2550Phe) c.7669A>T (p.Ile2557Phe) c.7714A>T (p.Ile2572Phe) n.7866A>T c.7618A>T (p.Ile2540Phe) c.7597A>T (p.Ile2533Phe) c.7510A>T (p.Ile2504Phe) c.7504A>T (p.Ile2502Phe) c.5944A>T (p.Ile1982Phe) c.5437A>T (p.Ile1813Phe) c.904A>T (p.Ile302Phe) c.7642A>T (p.Ile2548Phe) c.7591A>T (p.Ile2531Phe) n.8152A>T | |
| 6 | g.152395580T>C | CA4057762 | SYNE1 | c.7648A>G (p.Ile2550Val) c.7669A>G (p.Ile2557Val) c.7714A>G (p.Ile2572Val) n.7866A>G c.7618A>G (p.Ile2540Val) c.7597A>G (p.Ile2533Val) c.7510A>G (p.Ile2504Val) c.7504A>G (p.Ile2502Val) c.5944A>G (p.Ile1982Val) c.5437A>G (p.Ile1813Val) c.904A>G (p.Ile302Val) c.7642A>G (p.Ile2548Val) c.7591A>G (p.Ile2531Val) n.8152A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152395580T>G | CA366111220 | SYNE1 | c.7648A>C (p.Ile2550Leu) c.7669A>C (p.Ile2557Leu) c.7714A>C (p.Ile2572Leu) n.7866A>C c.7618A>C (p.Ile2540Leu) c.7597A>C (p.Ile2533Leu) c.7510A>C (p.Ile2504Leu) c.7504A>C (p.Ile2502Leu) c.5944A>C (p.Ile1982Leu) c.5437A>C (p.Ile1813Leu) c.904A>C (p.Ile302Leu) c.7642A>C (p.Ile2548Leu) c.7591A>C (p.Ile2531Leu) n.8152A>C | |
| 6 | g.152395580T= | CA1673313211 | SYNE1 | c.7648A= (p.Ile2550=) c.7669A= (p.Ile2557=) c.7714A= (p.Ile2572=) n.7866A= c.7618A= (p.Ile2540=) c.7597A= (p.Ile2533=) c.7510A= (p.Ile2504=) c.7504A= (p.Ile2502=) c.5944A= (p.Ile1982=) c.5437A= (p.Ile1813=) c.904A= (p.Ile302=) c.7642A= (p.Ile2548=) c.7591A= (p.Ile2531=) n.8152A= | |
| 6 | g.152395581G>A | CA246320 | SYNE1 | c.7647C>T (p.His2549=) c.7668C>T (p.His2556=) c.7713C>T (p.His2571=) n.7865C>T c.7617C>T (p.His2539=) c.7596C>T (p.His2532=) c.7509C>T (p.His2503=) c.7503C>T (p.His2501=) c.5943C>T (p.His1981=) c.5436C>T (p.His1812=) c.903C>T (p.His301=) c.7641C>T (p.His2547=) c.7590C>T (p.His2530=) n.8151C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152395581G>C | CA366111225 | SYNE1 | c.7647C>G (p.His2549Gln) c.7668C>G (p.His2556Gln) c.7713C>G (p.His2571Gln) n.7865C>G c.7617C>G (p.His2539Gln) c.7596C>G (p.His2532Gln) c.7509C>G (p.His2503Gln) c.7503C>G (p.His2501Gln) c.5943C>G (p.His1981Gln) c.5436C>G (p.His1812Gln) c.903C>G (p.His301Gln) c.7641C>G (p.His2547Gln) c.7590C>G (p.His2530Gln) n.8151C>G | |
| 6 | g.152395581G= | CA1673313212 | SYNE1 | c.7647C= (p.His2549=) c.7668C= (p.His2556=) c.7713C= (p.His2571=) n.7865C= c.7617C= (p.His2539=) c.7596C= (p.His2532=) c.7509C= (p.His2503=) c.7503C= (p.His2501=) c.5943C= (p.His1981=) c.5436C= (p.His1812=) c.903C= (p.His301=) c.7641C= (p.His2547=) c.7590C= (p.His2530=) n.8151C= | |
| 6 | g.152395581G>T | CA366111227 | SYNE1 | c.7647C>A (p.His2549Gln) c.7668C>A (p.His2556Gln) c.7713C>A (p.His2571Gln) n.7865C>A c.7617C>A (p.His2539Gln) c.7596C>A (p.His2532Gln) c.7509C>A (p.His2503Gln) c.7503C>A (p.His2501Gln) c.5943C>A (p.His1981Gln) c.5436C>A (p.His1812Gln) c.903C>A (p.His301Gln) c.7641C>A (p.His2547Gln) c.7590C>A (p.His2530Gln) n.8151C>A | |
| 6 | g.152395582T>A | CA366111229 | SYNE1 | c.7646A>T (p.His2549Leu) c.7667A>T (p.His2556Leu) c.7712A>T (p.His2571Leu) n.7864A>T c.7616A>T (p.His2539Leu) c.7595A>T (p.His2532Leu) c.7508A>T (p.His2503Leu) c.7502A>T (p.His2501Leu) c.5942A>T (p.His1981Leu) c.5435A>T (p.His1812Leu) c.902A>T (p.His301Leu) c.7640A>T (p.His2547Leu) c.7589A>T (p.His2530Leu) n.8150A>T | |
| 6 | g.152395582T>C | CA4057763 | SYNE1 | c.7646A>G (p.His2549Arg) c.7667A>G (p.His2556Arg) c.7712A>G (p.His2571Arg) n.7864A>G c.7616A>G (p.His2539Arg) c.7595A>G (p.His2532Arg) c.7508A>G (p.His2503Arg) c.7502A>G (p.His2501Arg) c.5942A>G (p.His1981Arg) c.5435A>G (p.His1812Arg) c.902A>G (p.His301Arg) c.7640A>G (p.His2547Arg) c.7589A>G (p.His2530Arg) n.8150A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152395582T>G | CA366111231 | SYNE1 | c.7646A>C (p.His2549Pro) c.7667A>C (p.His2556Pro) c.7712A>C (p.His2571Pro) n.7864A>C c.7616A>C (p.His2539Pro) c.7595A>C (p.His2532Pro) c.7508A>C (p.His2503Pro) c.7502A>C (p.His2501Pro) c.5942A>C (p.His1981Pro) c.5435A>C (p.His1812Pro) c.902A>C (p.His301Pro) c.7640A>C (p.His2547Pro) c.7589A>C (p.His2530Pro) n.8150A>C | |
| 6 | g.152395582T= | CA1673313213 | SYNE1 | c.7646A= (p.His2549=) c.7667A= (p.His2556=) c.7712A= (p.His2571=) n.7864A= c.7616A= (p.His2539=) c.7595A= (p.His2532=) c.7508A= (p.His2503=) c.7502A= (p.His2501=) c.5942A= (p.His1981=) c.5435A= (p.His1812=) c.902A= (p.His301=) c.7640A= (p.His2547=) c.7589A= (p.His2530=) n.8150A= | |
| 6 | g.152395583G>A | CA366111234 | SYNE1 | c.7645C>T (p.His2549Tyr) c.7666C>T (p.His2556Tyr) c.7711C>T (p.His2571Tyr) n.7863C>T c.7615C>T (p.His2539Tyr) c.7594C>T (p.His2532Tyr) c.7507C>T (p.His2503Tyr) c.7501C>T (p.His2501Tyr) c.5941C>T (p.His1981Tyr) c.5434C>T (p.His1812Tyr) c.901C>T (p.His301Tyr) c.7639C>T (p.His2547Tyr) c.7588C>T (p.His2530Tyr) n.8149C>T | dbSNP |
| 6 | g.152395583G>C | CA366111237 | SYNE1 | c.7645C>G (p.His2549Asp) c.7666C>G (p.His2556Asp) c.7711C>G (p.His2571Asp) n.7863C>G c.7615C>G (p.His2539Asp) c.7594C>G (p.His2532Asp) c.7507C>G (p.His2503Asp) c.7501C>G (p.His2501Asp) c.5941C>G (p.His1981Asp) c.5434C>G (p.His1812Asp) c.901C>G (p.His301Asp) c.7639C>G (p.His2547Asp) c.7588C>G (p.His2530Asp) n.8149C>G | |
| 6 | g.152395583G= | CA1673313214 | SYNE1 | c.7645C= (p.His2549=) c.7666C= (p.His2556=) c.7711C= (p.His2571=) n.7863C= c.7615C= (p.His2539=) c.7594C= (p.His2532=) c.7507C= (p.His2503=) c.7501C= (p.His2501=) c.5941C= (p.His1981=) c.5434C= (p.His1812=) c.901C= (p.His301=) c.7639C= (p.His2547=) c.7588C= (p.His2530=) n.8149C= | |
| 6 | g.152395583G>T | CA150193926 | SYNE1 | c.7645C>A (p.His2549Asn) c.7666C>A (p.His2556Asn) c.7711C>A (p.His2571Asn) n.7863C>A c.7615C>A (p.His2539Asn) c.7594C>A (p.His2532Asn) c.7507C>A (p.His2503Asn) c.7501C>A (p.His2501Asn) c.5941C>A (p.His1981Asn) c.5434C>A (p.His1812Asn) c.901C>A (p.His301Asn) c.7639C>A (p.His2547Asn) c.7588C>A (p.His2530Asn) n.8149C>A | dbSNP |
| 6 | g.152395584C>A | CA366111240 | SYNE1 | c.7644G>T (p.Gln2548His) c.7665G>T (p.Gln2555His) c.7710G>T (p.Gln2570His) n.7862G>T c.7614G>T (p.Gln2538His) c.7593G>T (p.Gln2531His) c.7506G>T (p.Gln2502His) c.7500G>T (p.Gln2500His) c.5940G>T (p.Gln1980His) c.5433G>T (p.Gln1811His) c.900G>T (p.Gln300His) c.7638G>T (p.Gln2546His) c.7587G>T (p.Gln2529His) n.8148G>T | |
| 6 | g.152395584C= | CA1673313215 | SYNE1 | c.7644G= (p.Gln2548=) c.7665G= (p.Gln2555=) c.7710G= (p.Gln2570=) n.7862G= c.7614G= (p.Gln2538=) c.7593G= (p.Gln2531=) c.7506G= (p.Gln2502=) c.7500G= (p.Gln2500=) c.5940G= (p.Gln1980=) c.5433G= (p.Gln1811=) c.900G= (p.Gln300=) c.7638G= (p.Gln2546=) c.7587G= (p.Gln2529=) n.8148G= | |
| 6 | g.152395584C>G | CA366111242 | SYNE1 | c.7644G>C (p.Gln2548His) c.7665G>C (p.Gln2555His) c.7710G>C (p.Gln2570His) n.7862G>C c.7614G>C (p.Gln2538His) c.7593G>C (p.Gln2531His) c.7506G>C (p.Gln2502His) c.7500G>C (p.Gln2500His) c.5940G>C (p.Gln1980His) c.5433G>C (p.Gln1811His) c.900G>C (p.Gln300His) c.7638G>C (p.Gln2546His) c.7587G>C (p.Gln2529His) n.8148G>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.152395584C>T | CA452751593 | SYNE1 | c.7644G>A (p.Gln2548=) c.7665G>A (p.Gln2555=) c.7710G>A (p.Gln2570=) n.7862G>A c.7614G>A (p.Gln2538=) c.7593G>A (p.Gln2531=) c.7506G>A (p.Gln2502=) c.7500G>A (p.Gln2500=) c.5940G>A (p.Gln1980=) c.5433G>A (p.Gln1811=) c.900G>A (p.Gln300=) c.7638G>A (p.Gln2546=) c.7587G>A (p.Gln2529=) n.8148G>A | dbSNP |