Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96761693_96761721delCA2580068340CNNM4c.694_722del (p.Ile232ProfsTer?)
ClinVar
2g.96761694T>ACA347714754CNNM4c.695T>A (p.Ile232Asn)
2g.96761694T>CCA347714756CNNM4c.695T>C (p.Ile232Thr)
2g.96761694T>GCA347714757CNNM4c.695T>G (p.Ile232Ser)
2g.96761695T>ACA427813488CNNM4c.696T>A (p.Ile232=)
2g.96761695T>CCA427813489CNNM4c.696T>C (p.Ile232=)
gnomAD v4
2g.96761695T>GCA347714759CNNM4c.696T>G (p.Ile232Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761695T=CA1272753245CNNM4c.696T= (p.Ile232=)
2g.96761696G>ACA347714760CNNM4c.697G>A (p.Glu233Lys)
COSMIC
2g.96761696G>CCA347714762CNNM4c.697G>C (p.Glu233Gln)
2g.96761696G>TCA347714763CNNM4c.697G>T (p.Glu233Ter)
gnomAD v4
2g.96761697A>CCA347714765CNNM4c.698A>C (p.Glu233Ala)
2g.96761697A>GCA347714766CNNM4c.698A>G (p.Glu233Gly)
gnomAD v4
2g.96761697A>TCA347714767CNNM4c.698A>T (p.Glu233Val)
2g.96761698G>ACA427813494CNNM4c.699G>A (p.Glu233=)
dbSNP gnomAD v3 gnomAD v4
2g.96761698G>CCA347714769CNNM4c.699G>C (p.Glu233Asp)
2g.96761698G=CA1272753246CNNM4c.699G= (p.Glu233=)
2g.96761698G>TCA347714770CNNM4c.699G>T (p.Glu233Asp)
2g.96761699C>ACA347714775CNNM4c.700C>A (p.Pro234Thr)
2g.96761699C>GCA347714772CNNM4c.700C>G (p.Pro234Ala)
2g.96761699C>TCA347714774CNNM4c.700C>T (p.Pro234Ser)
gnomAD v4 COSMIC
2g.96761700C>ACA347714776CNNM4c.701C>A (p.Pro234His)
2g.96761700C>GCA347714777CNNM4c.701C>G (p.Pro234Arg)
2g.96761700C>TCA347714779CNNM4c.701C>T (p.Pro234Leu)
2g.96761701C>ACA427813500CNNM4c.702C>A (p.Pro234=)
2g.96761701C=CA1272753247CNNM4c.702C= (p.Pro234=)
2g.96761701C>GCA427813501CNNM4c.702C>G (p.Pro234=)
2g.96761701C>TCA1783249CNNM4c.702C>T (p.Pro234=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761702A>CCA347714782CNNM4c.703A>C (p.Ile235Leu)
2g.96761702A>GCA347714783CNNM4c.703A>G (p.Ile235Val)
2g.96761702A>TCA347714784CNNM4c.703A>T (p.Ile235Phe)
2g.96761703T>ACA347714785CNNM4c.704T>A (p.Ile235Asn)
gnomAD v4
2g.96761703T>CCA347714786CNNM4c.704T>C (p.Ile235Thr)
2g.96761703T>GCA347714788CNNM4c.704T>G (p.Ile235Ser)
2g.96761704C>ACA427813504CNNM4c.705C>A (p.Ile235=)
2g.96761704C>GCA347714790CNNM4c.705C>G (p.Ile235Met)
2g.96761704C>TCA427813502CNNM4c.705C>T (p.Ile235=)
2g.96761705C>ACA427813507CNNM4c.706C>A (p.Arg236=)
dbSNP gnomAD v4
2g.96761705C=CA1272753248CNNM4c.706C= (p.Arg236=)
2g.96761705C>GCA347714791CNNM4c.706C>G (p.Arg236Gly)
2g.96761705C>TCA347714792CNNM4c.706C>T (p.Arg236Trp)
dbSNP
2g.96761706G>ACA115779CNNM4c.707G>A (p.Arg236Gln)
ClinVar dbSNP gnomAD v4
2g.96761706G>CCA347714797CNNM4c.707G>C (p.Arg236Pro)
2g.96761706G=CA1272753249CNNM4c.707G= (p.Arg236=)
2g.96761706G>TCA347714795CNNM4c.707G>T (p.Arg236Leu)
2g.96761707G>ACA427813510CNNM4c.708G>A (p.Arg236=)
2g.96761707G>CCA427813511CNNM4c.708G>C (p.Arg236=)
2g.96761707G>TCA427813512CNNM4c.708G>T (p.Arg236=)
gnomAD v4
2g.96761708C>ACA347714801CNNM4c.709C>A (p.Arg237Ser)
2g.96761708C=CA1272753250CNNM4c.709C= (p.Arg237=)
2g.96761708C>GCA347714798CNNM4c.709C>G (p.Arg237Gly)
dbSNP gnomAD v4
2g.96761708C>TCA347714800CNNM4c.709C>T (p.Arg237Cys)
dbSNP gnomAD v4
2g.96761709G>ACA347714803CNNM4c.710G>A (p.Arg237His)
gnomAD v4
2g.96761709G>CCA347714805CNNM4c.710G>C (p.Arg237Pro)
2g.96761709G=CA1272753251CNNM4c.710G= (p.Arg237=)
2g.96761709G>TCA347714806CNNM4c.710G>T (p.Arg237Leu)
dbSNP gnomAD v2
2g.96761710C>ACA427813516CNNM4c.711C>A (p.Arg237=)
2g.96761710C>GCA427813517CNNM4c.711C>G (p.Arg237=)
2g.96761710C>TCA427813518CNNM4c.711C>T (p.Arg237=)
2g.96761711A=CA1272753252CNNM4c.712A= (p.Lys238=)
2g.96761711A>CCA347714808CNNM4c.712A>C (p.Lys238Gln)
2g.96761711A>GCA52467164CNNM4c.712A>G (p.Lys238Glu)
dbSNP gnomAD v3 gnomAD v4
2g.96761711A>TCA347714810CNNM4c.712A>T (p.Lys238Ter)
2g.96761712A>CCA347714811CNNM4c.713A>C (p.Lys238Thr)
2g.96761712A>GCA347714813CNNM4c.713A>G (p.Lys238Arg)
2g.96761712A>TCA347714815CNNM4c.713A>T (p.Lys238Met)
2g.96761713G>ACA427813519CNNM4c.714G>A (p.Lys238=)
2g.96761713G>CCA347714816CNNM4c.714G>C (p.Lys238Asn)
2g.96761713G>TCA347714818CNNM4c.714G>T (p.Lys238Asn)
gnomAD v4
2g.96761714G>ACA347714822CNNM4c.715G>A (p.Gly239Ser)
2g.96761714G>CCA347714819CNNM4c.715G>C (p.Gly239Arg)
2g.96761714G>TCA347714820CNNM4c.715G>T (p.Gly239Cys)
2g.96761715G>ACA347714824CNNM4c.716G>A (p.Gly239Asp)
2g.96761715G>CCA347714826CNNM4c.716G>C (p.Gly239Ala)
2g.96761715G>TCA347714827CNNM4c.716G>T (p.Gly239Val)
COSMIC
2g.96761716C>ACA427813526CNNM4c.717C>A (p.Gly239=)
2g.96761716C=CA1272753253CNNM4c.717C= (p.Gly239=)
2g.96761716C>GCA427813527CNNM4c.717C>G (p.Gly239=)
2g.96761716C>TCA427813528CNNM4c.717C>T (p.Gly239=)
dbSNP gnomAD v3 gnomAD v4
2g.96761717A>CCA347714828CNNM4c.718A>C (p.Asn240His)
2g.96761717A>GCA347714829CNNM4c.718A>G (p.Asn240Asp)
2g.96761717A>TCA347714830CNNM4c.718A>T (p.Asn240Tyr)
2g.96761718A>CCA347714832CNNM4c.719A>C (p.Asn240Thr)
2g.96761718A>GCA347714834CNNM4c.719A>G (p.Asn240Ser)
2g.96761718A>TCA347714835CNNM4c.719A>T (p.Asn240Ile)
2g.96761719C>ACA347714837CNNM4c.720C>A (p.Asn240Lys)
2g.96761719C>GCA347714838CNNM4c.720C>G (p.Asn240Lys)
2g.96761719C>TCA427813529CNNM4c.720C>T (p.Asn240=)
2g.96761720T>ACA347714843CNNM4c.721T>A (p.Tyr241Asn)
2g.96761720T>CCA347714841CNNM4c.721T>C (p.Tyr241His)
2g.96761720T>GCA347714840CNNM4c.721T>G (p.Tyr241Asp)
2g.96761721A>CCA347714845CNNM4c.722A>C (p.Tyr241Ser)
2g.96761721A>GCA347714846CNNM4c.722A>G (p.Tyr241Cys)
gnomAD v4
2g.96761721A>TCA347714847CNNM4c.722A>T (p.Tyr241Phe)
2g.96761722C>ACA347714848CNNM4c.723C>A (p.Tyr241Ter)
2g.96761722C>GCA347714850CNNM4c.723C>G (p.Tyr241Ter)
2g.96761722C>TCA427813531CNNM4c.723C>T (p.Tyr241=)
gnomAD v4
2g.96761723C>ACA347714852CNNM4c.724C>A (p.Leu242Ile)
2g.96761723C>GCA347714854CNNM4c.724C>G (p.Leu242Val)
2g.96761723C>TCA347714856CNNM4c.724C>T (p.Leu242Phe)
gnomAD v4
2g.96761724T>ACA347714858CNNM4c.725T>A (p.Leu242His)
2g.96761724T>CCA347714859CNNM4c.725T>C (p.Leu242Pro)
2g.96761724T>GCA347714860CNNM4c.725T>G (p.Leu242Arg)
2g.96761725T>ACA427813533CNNM4c.726T>A (p.Leu242=)
2g.96761725T>CCA427813534CNNM4c.726T>C (p.Leu242=)
2g.96761725T>GCA1783250CNNM4c.726T>G (p.Leu242=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761725T=CA1272753254CNNM4c.726T= (p.Leu242=)
2g.96761726C>ACA347714865CNNM4c.727C>A (p.Leu243Ile)
2g.96761726C>GCA347714866CNNM4c.727C>G (p.Leu243Val)
2g.96761726C>TCA347714863CNNM4c.727C>T (p.Leu243Phe)
2g.96761727T>ACA347714867CNNM4c.728T>A (p.Leu243His)
2g.96761727T>CCA347714869CNNM4c.728T>C (p.Leu243Pro)
2g.96761727T>GCA347714871CNNM4c.728T>G (p.Leu243Arg)
2g.96761728C>ACA427813536CNNM4c.729C>A (p.Leu243=)
2g.96761728C>GCA427813537CNNM4c.729C>G (p.Leu243=)
2g.96761728C>TCA427813538CNNM4c.729C>T (p.Leu243=)
2g.96761729T>ACA347714872CNNM4c.730T>A (p.Cys244Ser)
2g.96761729T>CCA347714873CNNM4c.730T>C (p.Cys244Arg)
2g.96761729T>GCA347714875CNNM4c.730T>G (p.Cys244Gly)
2g.96761730G>ACA347714877CNNM4c.731G>A (p.Cys244Tyr)
2g.96761730G>CCA347714880CNNM4c.731G>C (p.Cys244Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761730G=CA1272753255CNNM4c.731G= (p.Cys244=)
2g.96761730G>TCA347714878CNNM4c.731G>T (p.Cys244Phe)
ClinVar dbSNP
2g.96761731C>ACA347714881CNNM4c.732C>A (p.Cys244Ter)
2g.96761731C=CA1272753256CNNM4c.732C= (p.Cys244=)
2g.96761731C>GCA347714882CNNM4c.732C>G (p.Cys244Trp)
2g.96761731C>TCA427813292CNNM4c.732C>T (p.Cys244=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761732T>ACA347714884CNNM4c.733T>A (p.Ser245Thr)
2g.96761732T>CCA347714886CNNM4c.733T>C (p.Ser245Pro)
2g.96761732T>GCA347714887CNNM4c.733T>G (p.Ser245Ala)
2g.96761733C>ACA347714889CNNM4c.734C>A (p.Ser245Ter)
2g.96761733C=CA1272753257CNNM4c.734C= (p.Ser245=)
2g.96761733C>GCA347714891CNNM4c.734C>G (p.Ser245Trp)
dbSNP
2g.96761733C>TCA236059CNNM4c.734C>T (p.Ser245Leu)
ClinVar dbSNP
2g.96761734G>ACA1783251CNNM4c.735G>A (p.Ser245=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761734G>CCA427813295CNNM4c.735G>C (p.Ser245=)
2g.96761734G=CA1272753258CNNM4c.735G= (p.Ser245=)
2g.96761734G>TCA427813296CNNM4c.735G>T (p.Ser245=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761735T>ACA347714893CNNM4c.736T>A (p.Leu246Met)
gnomAD v4
2g.96761735T>CCA427813299CNNM4c.736T>C (p.Leu246=)
2g.96761735T>GCA347714894CNNM4c.736T>G (p.Leu246Val)
2g.96761736T>ACA347714895CNNM4c.737T>A (p.Leu246Ter)
2g.96761736T>CCA347714897CNNM4c.737T>C (p.Leu246Ser)
2g.96761736T>GCA347714899CNNM4c.737T>G (p.Leu246Trp)
2g.96761737G>ACA427813304CNNM4c.738G>A (p.Leu246=)
ClinVar dbSNP gnomAD v4
2g.96761737G>CCA347714900CNNM4c.738G>C (p.Leu246Phe)
2g.96761737G=CA1272753259CNNM4c.738G= (p.Leu246=)
2g.96761737G>TCA347714901CNNM4c.738G>T (p.Leu246Phe)
gnomAD v4
2g.96761738C>ACA347714910CNNM4c.739C>A (p.Leu247Ile)
2g.96761738C>GCA347714908CNNM4c.739C>G (p.Leu247Val)
2g.96761738C>TCA347714902CNNM4c.739C>T (p.Leu247Phe)
2g.96761739T>ACA347714911CNNM4c.740T>A (p.Leu247His)
2g.96761739T>CCA347714912CNNM4c.740T>C (p.Leu247Pro)
2g.96761739T>GCA347714913CNNM4c.740T>G (p.Leu247Arg)
2g.96761740C>ACA427813308CNNM4c.741C>A (p.Leu247=)
2g.96761740C=CA1272753260CNNM4c.741C= (p.Leu247=)
2g.96761740C>GCA427813309CNNM4c.741C>G (p.Leu247=)
dbSNP gnomAD v3 gnomAD v4
2g.96761740C>TCA1783252CNNM4c.741C>T (p.Leu247=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761741C>ACA347714916CNNM4c.742C>A (p.Leu248Ile)
2g.96761741C>GCA347714917CNNM4c.742C>G (p.Leu248Val)
2g.96761741C>TCA427813312CNNM4c.742C>T (p.Leu248=)
gnomAD v4
2g.96761742T>ACA347714919CNNM4c.743T>A (p.Leu248Gln)
gnomAD v4
2g.96761742T>CCA347714922CNNM4c.743T>C (p.Leu248Pro)
dbSNP
2g.96761742T>GCA347714920CNNM4c.743T>G (p.Leu248Arg)
2g.96761742T=CA1272753261CNNM4c.743T= (p.Leu248=)
2g.96761743A=CA1272753262CNNM4c.744A= (p.Leu248=)
2g.96761743A>CCA427813315CNNM4c.744A>C (p.Leu248=)
2g.96761743A>GCA52467174CNNM4c.744A>G (p.Leu248=)
dbSNP
2g.96761743A>TCA427813316CNNM4c.744A>T (p.Leu248=)
2g.96761744G>ACA347714924CNNM4c.745G>A (p.Gly249Arg)
2g.96761744G>CCA1783253CNNM4c.745G>C (p.Gly249Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761744G=CA1272753263CNNM4c.745G= (p.Gly249=)
2g.96761744G>TCA347714926CNNM4c.745G>T (p.Gly249Trp)
2g.96761745G>ACA347714927CNNM4c.746G>A (p.Gly249Glu)
2g.96761745G>CCA52467193CNNM4c.746G>C (p.Gly249Ala)
dbSNP
2g.96761745G=CA1272753264CNNM4c.746G= (p.Gly249=)
2g.96761745G>TCA347714930CNNM4c.746G>T (p.Gly249Val)
2g.96761746G>ACA1783254CNNM4c.747G>A (p.Gly249=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761746G>CCA427813325CNNM4c.747G>C (p.Gly249=)
gnomAD v4
2g.96761746G=CA1272753265CNNM4c.747G= (p.Gly249=)
2g.96761746G>TCA427813324CNNM4c.747G>T (p.Gly249=)
2g.96761747A>CCA347714932CNNM4c.748A>C (p.Asn250His)
2g.96761747A>GCA347714933CNNM4c.748A>G (p.Asn250Asp)
2g.96761747A>TCA347714935CNNM4c.748A>T (p.Asn250Tyr)
2g.96761748A>CCA347714940CNNM4c.749A>C (p.Asn250Thr)
gnomAD v4
2g.96761748A>GCA347714938CNNM4c.749A>G (p.Asn250Ser)
ClinVar
2g.96761748A>TCA347714937CNNM4c.749A>T (p.Asn250Ile)
2g.96761749delCA2573136044CNNM4c.750del (p.Asn250LysfsTer12)
ClinVar dbSNP
2g.96761749C>ACA347714941CNNM4c.750C>A (p.Asn250Lys)
2g.96761749C=CA1272753266CNNM4c.750C= (p.Asn250=)
2g.96761749C>GCA347714942CNNM4c.750C>G (p.Asn250Lys)
2g.96761749C>TCA1783255CNNM4c.750C>T (p.Asn250=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761750G>ACA347714945CNNM4c.751G>A (p.Val251Met)
2g.96761750G>CCA347714946CNNM4c.751G>C (p.Val251Leu)
2g.96761750G>TCA347714947CNNM4c.751G>T (p.Val251Leu)
2g.96761751T>ACA347714949CNNM4c.752T>A (p.Val251Glu)
dbSNP
2g.96761751T>CCA347714950CNNM4c.752T>C (p.Val251Ala)
2g.96761751T>GCA347714952CNNM4c.752T>G (p.Val251Gly)
2g.96761752G>ACA427813336CNNM4c.753G>A (p.Val251=)
2g.96761752G>CCA427813337CNNM4c.753G>C (p.Val251=)
2g.96761752G>TCA427813338CNNM4c.753G>T (p.Val251=)
2g.96761753C>ACA347714954CNNM4c.754C>A (p.Leu252Met)
dbSNP gnomAD v2
2g.96761753C=CA1272753267CNNM4c.754C= (p.Leu252=)
2g.96761753C>GCA347714956CNNM4c.754C>G (p.Leu252Val)
2g.96761753C>TCA427813342CNNM4c.754C>T (p.Leu252=)
2g.96761754T>ACA347714957CNNM4c.755T>A (p.Leu252Gln)
2g.96761754T>CCA347714958CNNM4c.755T>C (p.Leu252Pro)
2g.96761754T>GCA347714959CNNM4c.755T>G (p.Leu252Arg)
2g.96761755G>ACA427813345CNNM4c.756G>A (p.Leu252=)
2g.96761755G>CCA1783256CNNM4c.756G>C (p.Leu252=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761755G=CA1272753268CNNM4c.756G= (p.Leu252=)
2g.96761755G>TCA427813346CNNM4c.756G>T (p.Leu252=)
2g.96761756G>ACA347714960CNNM4c.757G>A (p.Val253Ile)
2g.96761756G>CCA347714961CNNM4c.757G>C (p.Val253Leu)
2g.96761756G>TCA347714963CNNM4c.757G>T (p.Val253Phe)
2g.96761757T>ACA347714964CNNM4c.758T>A (p.Val253Asp)
2g.96761757T>CCA347714966CNNM4c.758T>C (p.Val253Ala)
2g.96761757T>GCA347714967CNNM4c.758T>G (p.Val253Gly)
gnomAD v4
2g.96761758C>ACA427813349CNNM4c.759C>A (p.Val253=)
2g.96761758C=CA1272753269CNNM4c.759C= (p.Val253=)
2g.96761758C>GCA427813350CNNM4c.759C>G (p.Val253=)
2g.96761758C>TCA1783257CNNM4c.759C>T (p.Val253=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761758dupCA2660221306CNNM4c.759dup (p.Asn254GlnfsTer?)
gnomAD v4
2g.96761759A>CCA347714969CNNM4c.760A>C (p.Asn254His)
2g.96761759A>GCA347714970CNNM4c.760A>G (p.Asn254Asp)
2g.96761759A>TCA347714972CNNM4c.760A>T (p.Asn254Tyr)
2g.96761760A>CCA347714974CNNM4c.761A>C (p.Asn254Thr)
2g.96761760A>GCA347714976CNNM4c.761A>G (p.Asn254Ser)
2g.96761760A>TCA347714977CNNM4c.761A>T (p.Asn254Ile)
2g.96761761C>ACA347714981CNNM4c.762C>A (p.Asn254Lys)
2g.96761761C=CA1272753270CNNM4c.762C= (p.Asn254=)
2g.96761761C>GCA347714979CNNM4c.762C>G (p.Asn254Lys)
2g.96761761C>TCA427813355CNNM4c.762C>T (p.Asn254=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761762A=CA1272753271CNNM4c.763A= (p.Thr255=)
2g.96761762A>CCA347714982CNNM4c.763A>C (p.Thr255Pro)
2g.96761762A>GCA1783258CNNM4c.763A>G (p.Thr255Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761762A>TCA347714983CNNM4c.763A>T (p.Thr255Ser)
2g.96761763C>ACA347714986CNNM4c.764C>A (p.Thr255Asn)
gnomAD v4
2g.96761763C>GCA347714988CNNM4c.764C>G (p.Thr255Ser)
2g.96761763C>TCA347714989CNNM4c.764C>T (p.Thr255Ile)
gnomAD v4
2g.96761764C>ACA427813362CNNM4c.765C>A (p.Thr255=)
2g.96761764C>GCA427813363CNNM4c.765C>G (p.Thr255=)
2g.96761764C>TCA427813364CNNM4c.765C>T (p.Thr255=)
2g.96761765T>ACA347714990CNNM4c.766T>A (p.Ser256Thr)
2g.96761765T>CCA347714991CNNM4c.766T>C (p.Ser256Pro)
2g.96761765T>GCA347714992CNNM4c.766T>G (p.Ser256Ala)
2g.96761766C>ACA347714994CNNM4c.767C>A (p.Ser256Tyr)
2g.96761766C>GCA347714995CNNM4c.767C>G (p.Ser256Cys)
2g.96761766C>TCA347714997CNNM4c.767C>T (p.Ser256Phe)
2g.96761768delCA2586969662CNNM4c.769del (p.Leu257SerfsTer5)
gnomAD v4
2g.96761767C>ACA427813367CNNM4c.768C>A (p.Ser256=)
2g.96761767C>GCA427813370CNNM4c.768C>G (p.Ser256=)
2g.96761767C>TCA427813369CNNM4c.768C>T (p.Ser256=)
2g.96761768C>ACA347714999CNNM4c.769C>A (p.Leu257Ile)
2g.96761768C>GCA347715000CNNM4c.769C>G (p.Leu257Val)
2g.96761768C>TCA347715001CNNM4c.769C>T (p.Leu257Phe)
gnomAD v4
2g.96761768_96761769insCCAAACACACCCACA2751330682CNNM4c.769_770insCCAAACACACCCA (p.Leu257ProfsTer?)
2g.96761769T>ACA347715006CNNM4c.770T>A (p.Leu257His)
2g.96761769T>CCA347715004CNNM4c.770T>C (p.Leu257Pro)
2g.96761769T>GCA347715003CNNM4c.770T>G (p.Leu257Arg)
2g.96761770C>ACA427813374CNNM4c.771C>A (p.Leu257=)
2g.96761770C>GCA427813375CNNM4c.771C>G (p.Leu257=)
2g.96761770C>TCA427813376CNNM4c.771C>T (p.Leu257=)
2g.96761772_96761773delCA2660221307CNNM4c.773_774del (p.Thr258AsnfsTer?)
gnomAD v4
2g.96761771A=CA1272753272CNNM4c.772A= (p.Thr258=)
2g.96761771A>CCA347715007CNNM4c.772A>C (p.Thr258Pro)
dbSNP gnomAD v2 gnomAD v4
2g.96761771A>GCA1783259CNNM4c.772A>G (p.Thr258Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761771A>TCA347715008CNNM4c.772A>T (p.Thr258Ser)
2g.96761772C>ACA347715009CNNM4c.773C>A (p.Thr258Lys)
dbSNP
2g.96761772C>GCA347715010CNNM4c.773C>G (p.Thr258Arg)
2g.96761772C>TCA347715012CNNM4c.773C>T (p.Thr258Ile)
2g.96761773A=CA1272753273CNNM4c.774A= (p.Thr258=)
2g.96761773A>CCA427813380CNNM4c.774A>C (p.Thr258=)
gnomAD v4
2g.96761773A>GCA1783260CNNM4c.774A>G (p.Thr258=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761773A>TCA427813382CNNM4c.774A>T (p.Thr258=)
2g.96761774A=CA1272753274CNNM4c.775A= (p.Ile259=)
2g.96761774A>CCA347715014CNNM4c.775A>C (p.Ile259Leu)
2g.96761774A>GCA347715015CNNM4c.775A>G (p.Ile259Val)
dbSNP gnomAD v2
2g.96761774A>TCA347715017CNNM4c.775A>T (p.Ile259Phe)
2g.96761775T>ACA347715018CNNM4c.776T>A (p.Ile259Asn)
2g.96761775T>CCA347715019CNNM4c.776T>C (p.Ile259Thr)
2g.96761775T>GCA347715020CNNM4c.776T>G (p.Ile259Ser)
2g.96761776C>ACA52467230CNNM4c.777C>A (p.Ile259=)
dbSNP gnomAD v4
2g.96761776C=CA1272753275CNNM4c.777C= (p.Ile259=)
2g.96761776C>GCA347715021CNNM4c.777C>G (p.Ile259Met)
2g.96761776C>TCA427813389CNNM4c.777C>T (p.Ile259=)
COSMIC
2g.96761777C>ACA347715026CNNM4c.778C>A (p.Leu260Ile)
2g.96761777C=CA1272753276CNNM4c.778C= (p.Leu260=)
2g.96761777C>GCA347715023CNNM4c.778C>G (p.Leu260Val)
dbSNP
2g.96761777C>TCA347715025CNNM4c.778C>T (p.Leu260Phe)
2g.96761778T>ACA347715028CNNM4c.779T>A (p.Leu260His)
2g.96761778T>CCA347715029CNNM4c.779T>C (p.Leu260Pro)
2g.96761778T>GCA347715030CNNM4c.779T>G (p.Leu260Arg)
2g.96761779T>ACA427813395CNNM4c.780T>A (p.Leu260=)
2g.96761779T>CCA427813397CNNM4c.780T>C (p.Leu260=)
2g.96761779T>GCA427813396CNNM4c.780T>G (p.Leu260=)
2g.96761780C>ACA347715031CNNM4c.781C>A (p.Leu261Ile)
2g.96761780C=CA1272753277CNNM4c.781C= (p.Leu261=)
2g.96761780C>GCA347715033CNNM4c.781C>G (p.Leu261Val)
dbSNP gnomAD v3 gnomAD v4
2g.96761780C>TCA427813400CNNM4c.781C>T (p.Leu261=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761781T>ACA347715035CNNM4c.782T>A (p.Leu261Gln)
2g.96761781T>CCA347715036CNNM4c.782T>C (p.Leu261Pro)
ClinVar dbSNP
2g.96761781T>GCA347715038CNNM4c.782T>G (p.Leu261Arg)
2g.96761781T=CA1272753278CNNM4c.782T= (p.Leu261=)
2g.96761782A>CCA427813404CNNM4c.783A>C (p.Leu261=)
2g.96761782A>GCA427813405CNNM4c.783A>G (p.Leu261=)
2g.96761782A>TCA427813406CNNM4c.783A>T (p.Leu261=)
2g.96761783G>ACA347715039CNNM4c.784G>A (p.Asp262Asn)
2g.96761783G>CCA347715040CNNM4c.784G>C (p.Asp262His)
2g.96761783G=CA1272753279CNNM4c.784G= (p.Asp262=)
2g.96761783G>TCA52467243CNNM4c.784G>T (p.Asp262Tyr)
dbSNP
2g.96761784A>CCA347715046CNNM4c.785A>C (p.Asp262Ala)
2g.96761784A>GCA347715042CNNM4c.785A>G (p.Asp262Gly)
2g.96761784A>TCA347715044CNNM4c.785A>T (p.Asp262Val)
2g.96761785C>ACA347715047CNNM4c.786C>A (p.Asp262Glu)
2g.96761785C=CA1272753280CNNM4c.786C= (p.Asp262=)
2g.96761785C>GCA347715049CNNM4c.786C>G (p.Asp262Glu)
2g.96761785C>TCA427813411CNNM4c.786C>T (p.Asp262=)
dbSNP
2g.96761786A>CCA347715050CNNM4c.787A>C (p.Asn263His)
2g.96761786A>GCA347715052CNNM4c.787A>G (p.Asn263Asp)
2g.96761786A>TCA347715053CNNM4c.787A>T (p.Asn263Tyr)
2g.96761787delCA2660221308CNNM4c.788del (p.Asn263ThrfsTer?)
gnomAD v4
2g.96761787A=CA1272753281CNNM4c.788A= (p.Asn263=)
2g.96761787A>CCA347715055CNNM4c.788A>C (p.Asn263Thr)
2g.96761787A>GCA1783261CNNM4c.788A>G (p.Asn263Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761787A>TCA347715058CNNM4c.788A>T (p.Asn263Ile)
2g.96761788C>ACA347715059CNNM4c.789C>A (p.Asn263Lys)
2g.96761788C=CA1272753282CNNM4c.789C= (p.Asn263=)
2g.96761788C>GCA347715060CNNM4c.789C>G (p.Asn263Lys)
dbSNP gnomAD v3 gnomAD v4
2g.96761788C>TCA427813417CNNM4c.789C>T (p.Asn263=)
dbSNP
2g.96761789C>ACA347715062CNNM4c.790C>A (p.Leu264Ile)
2g.96761789C>GCA347715063CNNM4c.790C>G (p.Leu264Val)
gnomAD v4
2g.96761789C>TCA347715064CNNM4c.790C>T (p.Leu264Phe)
dbSNP
2g.96761790T>ACA347715067CNNM4c.791T>A (p.Leu264His)
2g.96761790T>CCA347715068CNNM4c.791T>C (p.Leu264Pro)
2g.96761790T>GCA347715066CNNM4c.791T>G (p.Leu264Arg)
2g.96761791C>ACA427813424CNNM4c.792C>A (p.Leu264=)
2g.96761791C>GCA427813425CNNM4c.792C>G (p.Leu264=)
2g.96761791C>TCA427813426CNNM4c.792C>T (p.Leu264=)
gnomAD v4
2g.96761792A=CA1272753283CNNM4c.793A= (p.Ile265=)
2g.96761792A>CCA347715071CNNM4c.793A>C (p.Ile265Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96761792A>GCA347715070CNNM4c.793A>G (p.Ile265Val)
2g.96761792A>TCA347715072CNNM4c.793A>T (p.Ile265Phe)
2g.96761793T>ACA347715073CNNM4c.794T>A (p.Ile265Asn)
2g.96761793T>CCA347715076CNNM4c.794T>C (p.Ile265Thr)
2g.96761793T>GCA347715074CNNM4c.794T>G (p.Ile265Ser)
gnomAD v4
2g.96761794C>ACA427813432CNNM4c.795C>A (p.Ile265=)
gnomAD v4
2g.96761794C=CA1272753284CNNM4c.795C= (p.Ile265=)
2g.96761794C>GCA347715078CNNM4c.795C>G (p.Ile265Met)
gnomAD v4
2g.96761794C>TCA1783262CNNM4c.795C>T (p.Ile265=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched