Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.120788677_120788757del | CA2695208538 | TSPAN12 | c.753_833del (p.Asp251_Leu278delinsGlu) c.732_812del (n.732_812del) c.678_758del (p.Asp226_Leu253delinsGlu) | |
7 | g.120788710T>A | CA369133501 | TSPAN12 | c.800A>T (p.Asn267Ile) c.779A>T (n.779A>T) c.725A>T (p.Asn242Ile) | |
7 | g.120788710T>C | CA4453800 | TSPAN12 | c.800A>G (p.Asn267Ser) c.779A>G (n.779A>G) c.725A>G (p.Asn242Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788710T>G | CA369133504 | TSPAN12 | c.800A>C (p.Asn267Thr) c.779A>C (n.779A>C) c.725A>C (p.Asn242Thr) | gnomAD v3 gnomAD v4 |
7 | g.120788710T= | CA1738876297 | TSPAN12 | c.800A= (p.Asn267=) c.779A= (n.779A=) c.725A= (p.Asn242=) | |
7 | g.120788711T>A | CA369133509 | TSPAN12 | c.799A>T (p.Asn267Tyr) c.778A>T (n.778A>T) c.724A>T (p.Asn242Tyr) | |
7 | g.120788711T>C | CA369133506 | TSPAN12 | c.799A>G (p.Asn267Asp) c.778A>G (n.778A>G) c.724A>G (p.Asn242Asp) | |
7 | g.120788711T>G | CA369133507 | TSPAN12 | c.799A>C (p.Asn267His) c.778A>C (n.778A>C) c.724A>C (p.Asn242His) | |
7 | g.120788712_120788716del | CA2777663991 | TSPAN12 | c.795_799del (p.Asn265LysfsTer22) c.774_778del (n.774_778del) c.720_724del (p.Asn240LysfsTer22) | |
7 | g.120788712G>A | CA457393540 | TSPAN12 | c.798C>T (p.Asp266=) c.777C>T (n.777C>T) c.723C>T (p.Asp241=) | dbSNP |
7 | g.120788712G>C | CA369133510 | TSPAN12 | c.798C>G (p.Asp266Glu) c.777C>G (n.777C>G) c.723C>G (p.Asp241Glu) | |
7 | g.120788712G= | CA1738876303 | TSPAN12 | c.798C= (p.Asp266=) c.777C= (n.777C=) c.723C= (p.Asp241=) | |
7 | g.120788712G>T | CA369133511 | TSPAN12 | c.798C>A (p.Asp266Glu) c.777C>A (n.777C>A) c.723C>A (p.Asp241Glu) | |
7 | g.120788713T>A | CA369133514 | TSPAN12 | c.797A>T (p.Asp266Val) c.776A>T (n.776A>T) c.722A>T (p.Asp241Val) | |
7 | g.120788713T>C | CA369133516 | TSPAN12 | c.797A>G (p.Asp266Gly) c.776A>G (n.776A>G) c.722A>G (p.Asp241Gly) | |
7 | g.120788713T>G | CA369133518 | TSPAN12 | c.797A>C (p.Asp266Ala) c.776A>C (n.776A>C) c.722A>C (p.Asp241Ala) | |
7 | g.120788714C>A | CA369133521 | TSPAN12 | c.796G>T (p.Asp266Tyr) c.775G>T (n.775G>T) c.721G>T (p.Asp241Tyr) | |
7 | g.120788714C>G | CA369133522 | TSPAN12 | c.796G>C (p.Asp266His) c.775G>C (n.775G>C) c.721G>C (p.Asp241His) | |
7 | g.120788714C>T | CA369133524 | TSPAN12 | c.796G>A (p.Asp266Asn) c.775G>A (n.775G>A) c.721G>A (p.Asp241Asn) | |
7 | g.120788715A>C | CA369133526 | TSPAN12 | c.795T>G (p.Asn265Lys) c.774T>G (n.774T>G) c.720T>G (p.Asn240Lys) | gnomAD v4 |
7 | g.120788715A>G | CA457393541 | TSPAN12 | c.795T>C (p.Asn265=) c.774T>C (n.774T>C) c.720T>C (p.Asn240=) | |
7 | g.120788715A>T | CA369133528 | TSPAN12 | c.795T>A (p.Asn265Lys) c.774T>A (n.774T>A) c.720T>A (p.Asn240Lys) | |
7 | g.120788716T>A | CA369133530 | TSPAN12 | c.794A>T (p.Asn265Ile) c.773A>T (n.773A>T) c.719A>T (p.Asn240Ile) | |
7 | g.120788716T>C | CA369133531 | TSPAN12 | c.794A>G (p.Asn265Ser) c.773A>G (n.773A>G) c.719A>G (p.Asn240Ser) | gnomAD v4 |
7 | g.120788716T>G | CA369133533 | TSPAN12 | c.794A>C (p.Asn265Thr) c.773A>C (n.773A>C) c.719A>C (p.Asn240Thr) | |
7 | g.120788717T>A | CA369133539 | TSPAN12 | c.793A>T (p.Asn265Tyr) c.772A>T (n.772A>T) c.718A>T (p.Asn240Tyr) | |
7 | g.120788717T>C | CA369133537 | TSPAN12 | c.793A>G (p.Asn265Asp) c.772A>G (n.772A>G) c.718A>G (p.Asn240Asp) | gnomAD v4 |
7 | g.120788717T>G | CA369133538 | TSPAN12 | c.793A>C (p.Asn265His) c.772A>C (n.772A>C) c.718A>C (p.Asn240His) | |
7 | g.120788718C>A | CA369133542 | TSPAN12 | c.792G>T (p.Lys264Asn) c.771G>T (n.771G>T) c.717G>T (p.Lys239Asn) | |
7 | g.120788718C= | CA1738876307 | TSPAN12 | c.792G= (p.Lys264=) c.771G= (n.771G=) c.717G= (p.Lys239=) | |
7 | g.120788718C>G | CA369133544 | TSPAN12 | c.792G>C (p.Lys264Asn) c.771G>C (n.771G>C) c.717G>C (p.Lys239Asn) | |
7 | g.120788718C>T | CA457393542 | TSPAN12 | c.792G>A (p.Lys264=) c.771G>A (n.771G>A) c.717G>A (p.Lys239=) | dbSNP gnomAD v4 |
7 | g.120788719T>A | CA369133546 | TSPAN12 | c.791A>T (p.Lys264Met) c.770A>T (n.770A>T) c.716A>T (p.Lys239Met) | |
7 | g.120788719T>C | CA369133548 | TSPAN12 | c.791A>G (p.Lys264Arg) c.770A>G (n.770A>G) c.716A>G (p.Lys239Arg) | |
7 | g.120788719T>G | CA369133550 | TSPAN12 | c.791A>C (p.Lys264Thr) c.770A>C (n.770A>C) c.716A>C (p.Lys239Thr) | |
7 | g.120788720T>A | CA369133552 | TSPAN12 | c.790A>T (p.Lys264Ter) c.769A>T (n.769A>T) c.715A>T (p.Lys239Ter) | |
7 | g.120788720T>C | CA369133554 | TSPAN12 | c.790A>G (p.Lys264Glu) c.769A>G (n.769A>G) c.715A>G (p.Lys239Glu) | |
7 | g.120788720T>G | CA4453801 | TSPAN12 | c.790A>C (p.Lys264Gln) c.769A>C (n.769A>C) c.715A>C (p.Lys239Gln) | dbSNP ExAC gnomAD v2 |
7 | g.120788720T= | CA1738876315 | TSPAN12 | c.790A= (p.Lys264=) c.769A= (n.769A=) c.715A= (p.Lys239=) | |
7 | g.120788720_120788721delinsTC | CA1738876317 | TSPAN12 | c.789_790delinsGA (p.Leu263=) c.768_769delinsGA (n.768_769delinsGA) c.714_715delinsGA (p.Leu238=) | |
7 | g.120788721del | CA832444387 | TSPAN12 | c.789del (p.Lys264ArgfsTer13) c.768del (n.768del) c.714del (p.Lys239ArgfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.120788721C>A | CA369133557 | TSPAN12 | c.789G>T (p.Leu263Phe) c.768G>T (n.768G>T) c.714G>T (p.Leu238Phe) | |
7 | g.120788721C>G | CA369133559 | TSPAN12 | c.789G>C (p.Leu263Phe) c.768G>C (n.768G>C) c.714G>C (p.Leu238Phe) | |
7 | g.120788721C>T | CA457393612 | TSPAN12 | c.789G>A (p.Leu263=) c.768G>A (n.768G>A) c.714G>A (p.Leu238=) | |
7 | g.120788722A>C | CA369133561 | TSPAN12 | c.788T>G (p.Leu263Trp) c.767T>G (n.767T>G) c.713T>G (p.Leu238Trp) | |
7 | g.120788722A>G | CA369133563 | TSPAN12 | c.788T>C (p.Leu263Ser) c.767T>C (n.767T>C) c.713T>C (p.Leu238Ser) | |
7 | g.120788722A>T | CA369133565 | TSPAN12 | c.788T>A (p.Leu263Ter) c.767T>A (n.767T>A) c.713T>A (p.Leu238Ter) | |
7 | g.120788722_120788724delinsAAG | CA1738876327 | TSPAN12 | c.786_788delinsCTT (p.Ser262=) c.765_767delinsCTT (n.765_767delinsCTT) c.711_713delinsCTT (p.Ser237=) | |
7 | g.120788723A= | CA1738876332 | TSPAN12 | c.787T= (p.Leu263=) c.766T= (n.766T=) c.712T= (p.Leu238=) | |
7 | g.120788723A>C | CA369133569 | TSPAN12 | c.787T>G (p.Leu263Val) c.766T>G (n.766T>G) c.712T>G (p.Leu238Val) |