| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.151568077C>A | CA348804601 | NEB | c.689G>T c.17838G>T (p.Gln5946His) c.12735G>T (p.Gln4245His) c.2028G>T (p.Gln676His) c.17109G>T (p.Gln5703His) c.14922G>T (p.Gln4974His) c.15651G>T (p.Gln5217His) c.13464G>T (p.Gln4488His) | |
| 2 | g.151568077C= | CA1298181560 | NEB | c.689G= c.17838G= (p.Gln5946=) c.12735G= (p.Gln4245=) c.2028G= (p.Gln676=) c.17109G= (p.Gln5703=) c.14922G= (p.Gln4974=) c.15651G= (p.Gln5217=) c.13464G= (p.Gln4488=) | |
| 2 | g.151568077C>G | CA57661223 | NEB | c.689G>C c.17838G>C (p.Gln5946His) c.12735G>C (p.Gln4245His) c.2028G>C (p.Gln676His) c.17109G>C (p.Gln5703His) c.14922G>C (p.Gln4974His) c.15651G>C (p.Gln5217His) c.13464G>C (p.Gln4488His) | dbSNP |
| 2 | g.151568077C>T | CA1908096 | NEB | c.689G>A c.17838G>A (p.Gln5946=) c.12735G>A (p.Gln4245=) c.2028G>A (p.Gln676=) c.17109G>A (p.Gln5703=) c.14922G>A (p.Gln4974=) c.15651G>A (p.Gln5217=) c.13464G>A (p.Gln4488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151568078T>A | CA348804602 | NEB | c.688A>T c.17837A>T (p.Gln5946Leu) c.12734A>T (p.Gln4245Leu) c.2027A>T (p.Gln676Leu) c.17108A>T (p.Gln5703Leu) c.14921A>T (p.Gln4974Leu) c.15650A>T (p.Gln5217Leu) c.13463A>T (p.Gln4488Leu) | |
| 2 | g.151568078T>C | CA348804604 | NEB | c.688A>G c.17837A>G (p.Gln5946Arg) c.12734A>G (p.Gln4245Arg) c.2027A>G (p.Gln676Arg) c.17108A>G (p.Gln5703Arg) c.14921A>G (p.Gln4974Arg) c.15650A>G (p.Gln5217Arg) c.13463A>G (p.Gln4488Arg) | gnomAD v4 |
| 2 | g.151568078T>G | CA348804603 | NEB | c.688A>C c.17837A>C (p.Gln5946Pro) c.12734A>C (p.Gln4245Pro) c.2027A>C (p.Gln676Pro) c.17108A>C (p.Gln5703Pro) c.14921A>C (p.Gln4974Pro) c.15650A>C (p.Gln5217Pro) c.13463A>C (p.Gln4488Pro) | |
| 2 | g.151568079G>A | CA348804605 | NEB | c.687C>T c.17836C>T (p.Gln5946Ter) c.12733C>T (p.Gln4245Ter) c.2026C>T (p.Gln676Ter) c.17107C>T (p.Gln5703Ter) c.14920C>T (p.Gln4974Ter) c.15649C>T (p.Gln5217Ter) c.13462C>T (p.Gln4488Ter) | |
| 2 | g.151568079G>C | CA348804607 | NEB | c.687C>G c.17836C>G (p.Gln5946Glu) c.12733C>G (p.Gln4245Glu) c.2026C>G (p.Gln676Glu) c.17107C>G (p.Gln5703Glu) c.14920C>G (p.Gln4974Glu) c.15649C>G (p.Gln5217Glu) c.13462C>G (p.Gln4488Glu) | |
| 2 | g.151568079G>T | CA348804606 | NEB | c.687C>A c.17836C>A (p.Gln5946Lys) c.12733C>A (p.Gln4245Lys) c.2026C>A (p.Gln676Lys) c.17107C>A (p.Gln5703Lys) c.14920C>A (p.Gln4974Lys) c.15649C>A (p.Gln5217Lys) c.13462C>A (p.Gln4488Lys) | gnomAD v4 |
| 2 | g.151568080A>C | CA429240291 | NEB | c.686T>G c.17835T>G (p.Val5945=) c.12732T>G (p.Val4244=) c.2025T>G (p.Val675=) c.17106T>G (p.Val5702=) c.14919T>G (p.Val4973=) c.15648T>G (p.Val5216=) c.13461T>G (p.Val4487=) | |
| 2 | g.151568080A>G | CA429240292 | NEB | c.686T>C c.17835T>C (p.Val5945=) c.12732T>C (p.Val4244=) c.2025T>C (p.Val675=) c.17106T>C (p.Val5702=) c.14919T>C (p.Val4973=) c.15648T>C (p.Val5216=) c.13461T>C (p.Val4487=) | |
| 2 | g.151568080A>T | CA429240294 | NEB | c.686T>A c.17835T>A (p.Val5945=) c.12732T>A (p.Val4244=) c.2025T>A (p.Val675=) c.17106T>A (p.Val5702=) c.14919T>A (p.Val4973=) c.15648T>A (p.Val5216=) c.13461T>A (p.Val4487=) | |
| 2 | g.151568081A>C | CA348804608 | NEB | c.685T>G c.17834T>G (p.Val5945Gly) c.12731T>G (p.Val4244Gly) c.2024T>G (p.Val675Gly) c.17105T>G (p.Val5702Gly) c.14918T>G (p.Val4973Gly) c.15647T>G (p.Val5216Gly) c.13460T>G (p.Val4487Gly) | |
| 2 | g.151568081A>G | CA348804609 | NEB | c.685T>C c.17834T>C (p.Val5945Ala) c.12731T>C (p.Val4244Ala) c.2024T>C (p.Val675Ala) c.17105T>C (p.Val5702Ala) c.14918T>C (p.Val4973Ala) c.15647T>C (p.Val5216Ala) c.13460T>C (p.Val4487Ala) | |
| 2 | g.151568081A>T | CA348804610 | NEB | c.685T>A c.17834T>A (p.Val5945Asp) c.12731T>A (p.Val4244Asp) c.2024T>A (p.Val675Asp) c.17105T>A (p.Val5702Asp) c.14918T>A (p.Val4973Asp) c.15647T>A (p.Val5216Asp) c.13460T>A (p.Val4487Asp) | |
| 2 | g.151568082C>A | CA348804611 | NEB | c.684G>T c.17833G>T (p.Val5945Phe) c.12730G>T (p.Val4244Phe) c.2023G>T (p.Val675Phe) c.17104G>T (p.Val5702Phe) c.14917G>T (p.Val4973Phe) c.15646G>T (p.Val5216Phe) c.13459G>T (p.Val4487Phe) | |
| 2 | g.151568082C= | CA1298181561 | NEB | c.684G= c.17833G= (p.Val5945=) c.12730G= (p.Val4244=) c.2023G= (p.Val675=) c.17104G= (p.Val5702=) c.14917G= (p.Val4973=) c.15646G= (p.Val5216=) c.13459G= (p.Val4487=) | |
| 2 | g.151568082C>G | CA348804612 | NEB | c.684G>C c.17833G>C (p.Val5945Leu) c.12730G>C (p.Val4244Leu) c.2023G>C (p.Val675Leu) c.17104G>C (p.Val5702Leu) c.14917G>C (p.Val4973Leu) c.15646G>C (p.Val5216Leu) c.13459G>C (p.Val4487Leu) | |
| 2 | g.151568082C>T | CA1908097 | NEB | c.684G>A c.17833G>A (p.Val5945Ile) c.12730G>A (p.Val4244Ile) c.2023G>A (p.Val675Ile) c.17104G>A (p.Val5702Ile) c.14917G>A (p.Val4973Ile) c.15646G>A (p.Val5216Ile) c.13459G>A (p.Val4487Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151568083G>A | CA1908098 | NEB | c.683C>T c.17832C>T (p.Asp5944=) c.12729C>T (p.Asp4243=) c.2022C>T (p.Asp674=) c.17103C>T (p.Asp5701=) c.14916C>T (p.Asp4972=) c.15645C>T (p.Asp5215=) c.13458C>T (p.Asp4486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.151568083G>C | CA348804613 | NEB | c.683C>G c.17832C>G (p.Asp5944Glu) c.12729C>G (p.Asp4243Glu) c.2022C>G (p.Asp674Glu) c.17103C>G (p.Asp5701Glu) c.14916C>G (p.Asp4972Glu) c.15645C>G (p.Asp5215Glu) c.13458C>G (p.Asp4486Glu) | |
| 2 | g.151568083G= | CA1298181562 | NEB | c.683C= c.17832C= (p.Asp5944=) c.12729C= (p.Asp4243=) c.2022C= (p.Asp674=) c.17103C= (p.Asp5701=) c.14916C= (p.Asp4972=) c.15645C= (p.Asp5215=) c.13458C= (p.Asp4486=) | |
| 2 | g.151568083G>T | CA348804614 | NEB | c.683C>A c.17832C>A (p.Asp5944Glu) c.12729C>A (p.Asp4243Glu) c.2022C>A (p.Asp674Glu) c.17103C>A (p.Asp5701Glu) c.14916C>A (p.Asp4972Glu) c.15645C>A (p.Asp5215Glu) c.13458C>A (p.Asp4486Glu) | |
| 2 | g.151568084T>A | CA348804615 | NEB | c.682A>T c.17831A>T (p.Asp5944Val) c.12728A>T (p.Asp4243Val) c.2021A>T (p.Asp674Val) c.17102A>T (p.Asp5701Val) c.14915A>T (p.Asp4972Val) c.15644A>T (p.Asp5215Val) c.13457A>T (p.Asp4486Val) | gnomAD v4 |
| 2 | g.151568084T>C | CA348804616 | NEB | c.682A>G c.17831A>G (p.Asp5944Gly) c.12728A>G (p.Asp4243Gly) c.2021A>G (p.Asp674Gly) c.17102A>G (p.Asp5701Gly) c.14915A>G (p.Asp4972Gly) c.15644A>G (p.Asp5215Gly) c.13457A>G (p.Asp4486Gly) | dbSNP gnomAD v4 |
| 2 | g.151568084T>G | CA348804617 | NEB | c.682A>C c.17831A>C (p.Asp5944Ala) c.12728A>C (p.Asp4243Ala) c.2021A>C (p.Asp674Ala) c.17102A>C (p.Asp5701Ala) c.14915A>C (p.Asp4972Ala) c.15644A>C (p.Asp5215Ala) c.13457A>C (p.Asp4486Ala) | |
| 2 | g.151568084T= | CA1298181563 | NEB | c.682A= c.17831A= (p.Asp5944=) c.12728A= (p.Asp4243=) c.2021A= (p.Asp674=) c.17102A= (p.Asp5701=) c.14915A= (p.Asp4972=) c.15644A= (p.Asp5215=) c.13457A= (p.Asp4486=) | |
| 2 | g.151568085C>A | CA348804620 | NEB | c.681G>T c.17830G>T (p.Asp5944Tyr) c.12727G>T (p.Asp4243Tyr) c.2020G>T (p.Asp674Tyr) c.17101G>T (p.Asp5701Tyr) c.14914G>T (p.Asp4972Tyr) c.15643G>T (p.Asp5215Tyr) c.13456G>T (p.Asp4486Tyr) | |
| 2 | g.151568085C>G | CA348804619 | NEB | c.681G>C c.17830G>C (p.Asp5944His) c.12727G>C (p.Asp4243His) c.2020G>C (p.Asp674His) c.17101G>C (p.Asp5701His) c.14914G>C (p.Asp4972His) c.15643G>C (p.Asp5215His) c.13456G>C (p.Asp4486His) | |
| 2 | g.151568085C>T | CA348804618 | NEB | c.681G>A c.17830G>A (p.Asp5944Asn) c.12727G>A (p.Asp4243Asn) c.2020G>A (p.Asp674Asn) c.17101G>A (p.Asp5701Asn) c.14914G>A (p.Asp4972Asn) c.15643G>A (p.Asp5215Asn) c.13456G>A (p.Asp4486Asn) | |
| 2 | g.151568086A>C | CA348804621 | NEB | c.680T>G c.17829T>G (p.Asn5943Lys) c.12726T>G (p.Asn4242Lys) c.2019T>G (p.Asn673Lys) c.17100T>G (p.Asn5700Lys) c.14913T>G (p.Asn4971Lys) c.15642T>G (p.Asn5214Lys) c.13455T>G (p.Asn4485Lys) | |
| 2 | g.151568086A>G | CA429240297 | NEB | c.680T>C c.17829T>C (p.Asn5943=) c.12726T>C (p.Asn4242=) c.2019T>C (p.Asn673=) c.17100T>C (p.Asn5700=) c.14913T>C (p.Asn4971=) c.15642T>C (p.Asn5214=) c.13455T>C (p.Asn4485=) | gnomAD v4 |
| 2 | g.151568086A>T | CA348804622 | NEB | c.680T>A c.17829T>A (p.Asn5943Lys) c.12726T>A (p.Asn4242Lys) c.2019T>A (p.Asn673Lys) c.17100T>A (p.Asn5700Lys) c.14913T>A (p.Asn4971Lys) c.15642T>A (p.Asn5214Lys) c.13455T>A (p.Asn4485Lys) | |
| 2 | g.151568086_151568087delinsAT | CA1298181564 | NEB | c.679_680delinsAT c.17828_17829delinsAT (p.Asn5943=) c.12725_12726delinsAT (p.Asn4242=) c.2018_2019delinsAT (p.Asn673=) c.17099_17100delinsAT (p.Asn5700=) c.14912_14913delinsAT (p.Asn4971=) c.15641_15642delinsAT (p.Asn5214=) c.13454_13455delinsAT (p.Asn4485=) | |
| 2 | g.151568087T>A | CA348804623 | NEB | c.679A>T c.17828A>T (p.Asn5943Ile) c.12725A>T (p.Asn4242Ile) c.2018A>T (p.Asn673Ile) c.17099A>T (p.Asn5700Ile) c.14912A>T (p.Asn4971Ile) c.15641A>T (p.Asn5214Ile) c.13454A>T (p.Asn4485Ile) | |
| 2 | g.151568087T>C | CA348804624 | NEB | c.679A>G c.17828A>G (p.Asn5943Ser) c.12725A>G (p.Asn4242Ser) c.2018A>G (p.Asn673Ser) c.17099A>G (p.Asn5700Ser) c.14912A>G (p.Asn4971Ser) c.15641A>G (p.Asn5214Ser) c.13454A>G (p.Asn4485Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.151568087T>G | CA348804625 | NEB | c.679A>C c.17828A>C (p.Asn5943Thr) c.12725A>C (p.Asn4242Thr) c.2018A>C (p.Asn673Thr) c.17099A>C (p.Asn5700Thr) c.14912A>C (p.Asn4971Thr) c.15641A>C (p.Asn5214Thr) c.13454A>C (p.Asn4485Thr) | |
| 2 | g.151568087T= | CA1298181565 | NEB | c.679A= c.17828A= (p.Asn5943=) c.12725A= (p.Asn4242=) c.2018A= (p.Asn673=) c.17099A= (p.Asn5700=) c.14912A= (p.Asn4971=) c.15641A= (p.Asn5214=) c.13454A= (p.Asn4485=) | |
| 2 | g.151568088del | CA891842952 | NEB | c.679del c.17828del (p.Asn5943MetfsTer7) c.12725del (p.Asn4242MetfsTer7) c.2018del (p.Asn673MetfsTer7) c.17099del (p.Asn5700MetfsTer7) c.14912del (p.Asn4971MetfsTer7) c.15641del (p.Asn5214MetfsTer7) c.13454del (p.Asn4485MetfsTer7) | ClinVar dbSNP gnomAD v4 |
| 2 | g.151568088T>A | CA348804626 | NEB | c.678A>T c.17827A>T (p.Asn5943Tyr) c.12724A>T (p.Asn4242Tyr) c.2017A>T (p.Asn673Tyr) c.17098A>T (p.Asn5700Tyr) c.14911A>T (p.Asn4971Tyr) c.15640A>T (p.Asn5214Tyr) c.13453A>T (p.Asn4485Tyr) | |
| 2 | g.151568088T>C | CA348804627 | NEB | c.678A>G c.17827A>G (p.Asn5943Asp) c.12724A>G (p.Asn4242Asp) c.2017A>G (p.Asn673Asp) c.17098A>G (p.Asn5700Asp) c.14911A>G (p.Asn4971Asp) c.15640A>G (p.Asn5214Asp) c.13453A>G (p.Asn4485Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.151568088T>G | CA348804628 | NEB | c.678A>C c.17827A>C (p.Asn5943His) c.12724A>C (p.Asn4242His) c.2017A>C (p.Asn673His) c.17098A>C (p.Asn5700His) c.14911A>C (p.Asn4971His) c.15640A>C (p.Asn5214His) c.13453A>C (p.Asn4485His) | |
| 2 | g.151568088T= | CA1298181566 | NEB | c.678A= c.17827A= (p.Asn5943=) c.12724A= (p.Asn4242=) c.2017A= (p.Asn673=) c.17098A= (p.Asn5700=) c.14911A= (p.Asn4971=) c.15640A= (p.Asn5214=) c.13453A= (p.Asn4485=) | |
| 2 | g.151568089G>A | CA429240302 | NEB | c.677C>T c.17826C>T (p.Cys5942=) c.12723C>T (p.Cys4241=) c.2016C>T (p.Cys672=) c.17097C>T (p.Cys5699=) c.14910C>T (p.Cys4970=) c.15639C>T (p.Cys5213=) c.13452C>T (p.Cys4484=) | gnomAD v4 |
| 2 | g.151568089G>C | CA348804629 | NEB | c.677C>G c.17826C>G (p.Cys5942Trp) c.12723C>G (p.Cys4241Trp) c.2016C>G (p.Cys672Trp) c.17097C>G (p.Cys5699Trp) c.14910C>G (p.Cys4970Trp) c.15639C>G (p.Cys5213Trp) c.13452C>G (p.Cys4484Trp) | |
| 2 | g.151568089G>T | CA348804630 | NEB | c.677C>A c.17826C>A (p.Cys5942Ter) c.12723C>A (p.Cys4241Ter) c.2016C>A (p.Cys672Ter) c.17097C>A (p.Cys5699Ter) c.14910C>A (p.Cys4970Ter) c.15639C>A (p.Cys5213Ter) c.13452C>A (p.Cys4484Ter) | |
| 2 | g.151568090C>A | CA348804631 | NEB | c.676G>T c.17825G>T (p.Cys5942Phe) c.12722G>T (p.Cys4241Phe) c.2015G>T (p.Cys672Phe) c.17096G>T (p.Cys5699Phe) c.14909G>T (p.Cys4970Phe) c.15638G>T (p.Cys5213Phe) c.13451G>T (p.Cys4484Phe) | |
| 2 | g.151568090C>G | CA348804632 | NEB | c.676G>C c.17825G>C (p.Cys5942Ser) c.12722G>C (p.Cys4241Ser) c.2015G>C (p.Cys672Ser) c.17096G>C (p.Cys5699Ser) c.14909G>C (p.Cys4970Ser) c.15638G>C (p.Cys5213Ser) c.13451G>C (p.Cys4484Ser) | |
| 2 | g.151568090C>T | CA348804633 | NEB | c.676G>A c.17825G>A (p.Cys5942Tyr) c.12722G>A (p.Cys4241Tyr) c.2015G>A (p.Cys672Tyr) c.17096G>A (p.Cys5699Tyr) c.14909G>A (p.Cys4970Tyr) c.15638G>A (p.Cys5213Tyr) c.13451G>A (p.Cys4484Tyr) |