UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107917257_107917266delinsTTGATTTCTG | CA1732860020 | DLD | c.1047-16_1047-7delinsTTGATTTCTG (n.1047-16_1047-7delinsTTGATTTCTG) c.*721-16_*721-7delinsTTGATTTCTG (n.*721-16_*721-7delinsTTGATTTCTG) c.903-16_903-7delinsTTGATTTCTG (n.903-16_903-7delinsTTGATTTCTG) c.978-16_978-7delinsTTGATTTCTG (n.978-16_978-7delinsTTGATTTCTG) c.750-16_750-7delinsTTGATTTCTG (n.750-16_750-7delinsTTGATTTCTG) | |
| 7 | g.107917260_107917268del | CA577199155 | DLD | c.1047-13_1047-5del (n.1047-13_1047-5del) c.*721-13_*721-5del (n.*721-13_*721-5del) c.903-13_903-5del (n.903-13_903-5del) c.978-13_978-5del (n.978-13_978-5del) c.750-13_750-5del (n.750-13_750-5del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917259G>A | CA1732860022 | DLD | c.1047-14G>A (n.1047-14G>A) c.*721-14G>A (n.*721-14G>A) c.903-14G>A (n.903-14G>A) c.978-14G>A (n.978-14G>A) c.750-14G>A (n.750-14G>A) | dbSNP gnomAD v4 |
| 7 | g.107917259G= | CA1732860021 | DLD | c.1047-14G= (n.1047-14G=) c.*721-14G= (n.*721-14G=) c.903-14G= (n.903-14G=) c.978-14G= (n.978-14G=) c.750-14G= (n.750-14G=) | |
| 7 | g.107917259G>T | CA2578990197 | DLD | c.1047-14G>T (n.1047-14G>T) c.*721-14G>T (n.*721-14G>T) c.903-14G>T (n.903-14G>T) c.978-14G>T (n.978-14G>T) c.750-14G>T (n.750-14G>T) | gnomAD v4 |
| 7 | g.107917260A= | CA1732860023 | DLD | c.1047-13A= (n.1047-13A=) c.*721-13A= (n.*721-13A=) c.903-13A= (n.903-13A=) c.978-13A= (n.978-13A=) c.750-13A= (n.750-13A=) | |
| 7 | g.107917260A>T | CA164258377 | DLD | c.1047-13A>T (n.1047-13A>T) c.*721-13A>T (n.*721-13A>T) c.903-13A>T (n.903-13A>T) c.978-13A>T (n.978-13A>T) c.750-13A>T (n.750-13A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917262T>A | CA831209572 | DLD | c.1047-11T>A (n.1047-11T>A) c.*721-11T>A (n.*721-11T>A) c.903-11T>A (n.903-11T>A) c.978-11T>A (n.978-11T>A) c.750-11T>A (n.750-11T>A) | dbSNP |
| 7 | g.107917262T>G | CA831209574 | DLD | c.1047-11T>G (n.1047-11T>G) c.*721-11T>G (n.*721-11T>G) c.903-11T>G (n.903-11T>G) c.978-11T>G (n.978-11T>G) c.750-11T>G (n.750-11T>G) | dbSNP gnomAD v4 |
| 7 | g.107917262T= | CA1732860024 | DLD | c.1047-11T= (n.1047-11T=) c.*721-11T= (n.*721-11T=) c.903-11T= (n.903-11T=) c.978-11T= (n.978-11T=) c.750-11T= (n.750-11T=) | |
| 7 | g.107917266G>A | CA2697557540 | DLD | c.1047-7G>A (n.1047-7G>A) c.*721-7G>A (n.*721-7G>A) c.903-7G>A (n.903-7G>A) c.978-7G>A (n.978-7G>A) c.750-7G>A (n.750-7G>A) | ClinVar |
| 7 | g.107917266G>T | CA2684458736 | DLD | c.1047-7G>T (n.1047-7G>T) c.*721-7G>T (n.*721-7G>T) c.903-7G>T (n.903-7G>T) c.978-7G>T (n.978-7G>T) c.750-7G>T (n.750-7G>T) | ClinVar gnomAD v4 |
| 7 | g.107917266_107917269del | CA2499218653 | DLD | c.1047-7_1047-4del (n.1047-7_1047-4del) c.*721-7_*721-4del (n.*721-7_*721-4del) c.903-7_903-4del (n.903-7_903-4del) c.978-7_978-4del (n.978-7_978-4del) c.750-7_750-4del (n.750-7_750-4del) | ClinVar dbSNP |
| 7 | g.107917269del | CA2777357309 | DLD | c.1047-4del (n.1047-4del) c.*721-4del (n.*721-4del) c.903-4del (n.903-4del) c.978-4del (n.978-4del) c.750-4del (n.750-4del) | |
| 7 | g.107917269G>A | CA2684458738 | DLD | c.1047-4G>A (n.1047-4G>A) c.*721-4G>A (n.*721-4G>A) c.903-4G>A (n.903-4G>A) c.978-4G>A (n.978-4G>A) c.750-4G>A (n.750-4G>A) | gnomAD v4 |
| 7 | g.107917269G>T | CA2499218654 | DLD | c.1047-4G>T (n.1047-4G>T) c.*721-4G>T (n.*721-4G>T) c.903-4G>T (n.903-4G>T) c.978-4G>T (n.978-4G>T) c.750-4G>T (n.750-4G>T) | ClinVar dbSNP |
| 7 | g.107917271A>C | CA368857983 | DLD | c.1047-2A>C (n.1047-2A>C) c.*721-2A>C (n.*721-2A>C) c.903-2A>C (n.903-2A>C) c.978-2A>C (n.978-2A>C) c.750-2A>C (n.750-2A>C) | |
| 7 | g.107917271A>G | CA368857984 | DLD | c.1047-2A>G (n.1047-2A>G) c.*721-2A>G (n.*721-2A>G) c.903-2A>G (n.903-2A>G) c.978-2A>G (n.978-2A>G) c.750-2A>G (n.750-2A>G) | |
| 7 | g.107917271A>T | CA368857985 | DLD | c.1047-2A>T (n.1047-2A>T) c.*721-2A>T (n.*721-2A>T) c.903-2A>T (n.903-2A>T) c.978-2A>T (n.978-2A>T) c.750-2A>T (n.750-2A>T) | |
| 7 | g.107917272G>A | CA368857987 | DLD | c.1047-1G>A (n.1047-1G>A) c.*721-1G>A (n.*721-1G>A) c.903-1G>A (n.903-1G>A) c.978-1G>A (n.978-1G>A) c.750-1G>A (n.750-1G>A) | ClinVar |
| 7 | g.107917272G>C | CA368857989 | DLD | c.1047-1G>C (n.1047-1G>C) c.*721-1G>C (n.*721-1G>C) c.903-1G>C (n.903-1G>C) c.978-1G>C (n.978-1G>C) c.750-1G>C (n.750-1G>C) | |
| 7 | g.107917272G>T | CA368857988 | DLD | c.1047-1G>T (n.1047-1G>T) c.*721-1G>T (n.*721-1G>T) c.903-1G>T (n.903-1G>T) c.978-1G>T (n.978-1G>T) c.750-1G>T (n.750-1G>T) | |
| 7 | g.107917273T>A | CA368857990 | DLD | c.1047T>A (p.Asn349Lys) c.*721T>A (n.*721T>A) c.903T>A (p.Asn301Lys) c.978T>A (p.Asn326Lys) c.750T>A (p.Asn250Lys) | |
| 7 | g.107917273T>C | CA457109315 | DLD | c.1047T>C (p.Asn349=) c.*721T>C (n.*721T>C) c.903T>C (p.Asn301=) c.978T>C (p.Asn326=) c.750T>C (p.Asn250=) | |
| 7 | g.107917273T>G | CA368857991 | DLD | c.1047T>G (p.Asn349Lys) c.*721T>G (n.*721T>G) c.903T>G (p.Asn301Lys) c.978T>G (p.Asn326Lys) c.750T>G (p.Asn250Lys) | |
| 7 | g.107917273dup | CA2684458739 | DLD | c.1047dup (p.Ile350TyrfsTer6) c.*721dup (n.*721dup) c.903dup (p.Ile302TyrfsTer6) c.978dup (p.Ile327TyrfsTer6) c.750dup (p.Ile251TyrfsTer6) | gnomAD v4 |
| 7 | g.107917274A>C | CA368857994 | DLD | c.1048A>C (p.Ile350Leu) c.*722A>C (n.*722A>C) c.904A>C (p.Ile302Leu) c.979A>C (p.Ile327Leu) c.751A>C (p.Ile251Leu) | |
| 7 | g.107917274A>G | CA368857995 | DLD | c.1048A>G (p.Ile350Val) c.*722A>G (n.*722A>G) c.904A>G (p.Ile302Val) c.979A>G (p.Ile327Val) c.751A>G (p.Ile251Val) | gnomAD v4 |
| 7 | g.107917274A>T | CA368857996 | DLD | c.1048A>T (p.Ile350Phe) c.*722A>T (n.*722A>T) c.904A>T (p.Ile302Phe) c.979A>T (p.Ile327Phe) c.751A>T (p.Ile251Phe) | |
| 7 | g.107917275T>A | CA368857998 | DLD | c.1049T>A (p.Ile350Asn) c.*723T>A (n.*723T>A) c.905T>A (p.Ile302Asn) c.980T>A (p.Ile327Asn) c.752T>A (p.Ile251Asn) | |
| 7 | g.107917275T>C | CA368857999 | DLD | c.1049T>C (p.Ile350Thr) c.*723T>C (n.*723T>C) c.905T>C (p.Ile302Thr) c.980T>C (p.Ile327Thr) c.752T>C (p.Ile251Thr) | |
| 7 | g.107917275T>G | CA368858001 | DLD | c.1049T>G (p.Ile350Ser) c.*723T>G (n.*723T>G) c.905T>G (p.Ile302Ser) c.980T>G (p.Ile327Ser) c.752T>G (p.Ile251Ser) | |
| 7 | g.107917276C>A | CA457109318 | DLD | c.1050C>A (p.Ile350=) c.*724C>A (n.*724C>A) c.906C>A (p.Ile302=) c.981C>A (p.Ile327=) c.753C>A (p.Ile251=) | |
| 7 | g.107917276C>G | CA368858003 | DLD | c.1050C>G (p.Ile350Met) c.*724C>G (n.*724C>G) c.906C>G (p.Ile302Met) c.981C>G (p.Ile327Met) c.753C>G (p.Ile251Met) | COSMIC COSMIC |
| 7 | g.107917276C>T | CA457109321 | DLD | c.1050C>T (p.Ile350=) c.*724C>T (n.*724C>T) c.906C>T (p.Ile302=) c.981C>T (p.Ile327=) c.753C>T (p.Ile251=) | |
| 7 | g.107917277T>A | CA368858005 | DLD | c.1051T>A (p.Tyr351Asn) c.*725T>A (n.*725T>A) c.907T>A (p.Tyr303Asn) c.982T>A (p.Tyr328Asn) c.754T>A (p.Tyr252Asn) | |
| 7 | g.107917277T>C | CA368858006 | DLD | c.1051T>C (p.Tyr351His) c.*725T>C (n.*725T>C) c.907T>C (p.Tyr303His) c.982T>C (p.Tyr328His) c.754T>C (p.Tyr252His) | |
| 7 | g.107917277T>G | CA368858008 | DLD | c.1051T>G (p.Tyr351Asp) c.*725T>G (n.*725T>G) c.907T>G (p.Tyr303Asp) c.982T>G (p.Tyr328Asp) c.754T>G (p.Tyr252Asp) | |
| 7 | g.107917278A= | CA1732860025 | DLD | c.1052A= (p.Tyr351=) c.*726A= (n.*726A=) c.908A= (p.Tyr303=) c.983A= (p.Tyr328=) c.755A= (p.Tyr252=) | |
| 7 | g.107917278A>C | CA368858013 | DLD | c.1052A>C (p.Tyr351Ser) c.*726A>C (n.*726A>C) c.908A>C (p.Tyr303Ser) c.983A>C (p.Tyr328Ser) c.755A>C (p.Tyr252Ser) | |
| 7 | g.107917278A>G | CA4434624 | DLD | c.1052A>G (p.Tyr351Cys) c.*726A>G (n.*726A>G) c.908A>G (p.Tyr303Cys) c.983A>G (p.Tyr328Cys) c.755A>G (p.Tyr252Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917278A>T | CA368858011 | DLD | c.1052A>T (p.Tyr351Phe) c.*726A>T (n.*726A>T) c.908A>T (p.Tyr303Phe) c.983A>T (p.Tyr328Phe) c.755A>T (p.Tyr252Phe) | |
| 7 | g.107917279T>A | CA368858015 | DLD | c.1053T>A (p.Tyr351Ter) c.*727T>A (n.*727T>A) c.909T>A (p.Tyr303Ter) c.984T>A (p.Tyr328Ter) c.756T>A (p.Tyr252Ter) | |
| 7 | g.107917279T>C | CA457109323 | DLD | c.1053T>C (p.Tyr351=) c.*727T>C (n.*727T>C) c.909T>C (p.Tyr303=) c.984T>C (p.Tyr328=) c.756T>C (p.Tyr252=) | ClinVar dbSNP |
| 7 | g.107917279T>G | CA368858017 | DLD | c.1053T>G (p.Tyr351Ter) c.*727T>G (n.*727T>G) c.909T>G (p.Tyr303Ter) c.984T>G (p.Tyr328Ter) c.756T>G (p.Tyr252Ter) | |
| 7 | g.107917280G>A | CA368858019 | DLD | c.1054G>A (p.Ala352Thr) c.*728G>A (n.*728G>A) c.910G>A (p.Ala304Thr) c.985G>A (p.Ala329Thr) c.757G>A (p.Ala253Thr) | |
| 7 | g.107917280G>C | CA368858020 | DLD | c.1054G>C (p.Ala352Pro) c.*728G>C (n.*728G>C) c.910G>C (p.Ala304Pro) c.985G>C (p.Ala329Pro) c.757G>C (p.Ala253Pro) | |
| 7 | g.107917280G>T | CA368858022 | DLD | c.1054G>T (p.Ala352Ser) c.*728G>T (n.*728G>T) c.910G>T (p.Ala304Ser) c.985G>T (p.Ala329Ser) c.757G>T (p.Ala253Ser) | |
| 7 | g.107917281C>A | CA368858024 | DLD | c.1055C>A (p.Ala352Asp) c.*729C>A (n.*729C>A) c.911C>A (p.Ala304Asp) c.986C>A (p.Ala329Asp) c.758C>A (p.Ala253Asp) | |
| 7 | g.107917281C>G | CA368858025 | DLD | c.1055C>G (p.Ala352Gly) c.*729C>G (n.*729C>G) c.911C>G (p.Ala304Gly) c.986C>G (p.Ala329Gly) c.758C>G (p.Ala253Gly) | |
| 7 | g.107917281C>T | CA368858027 | DLD | c.1055C>T (p.Ala352Val) c.*729C>T (n.*729C>T) c.911C>T (p.Ala304Val) c.986C>T (p.Ala329Val) c.758C>T (p.Ala253Val) | |
| 7 | g.107917282C>A | CA457109327 | DLD | c.1056C>A (p.Ala352=) c.*730C>A (n.*730C>A) c.912C>A (p.Ala304=) c.987C>A (p.Ala329=) c.759C>A (p.Ala253=) | |
| 7 | g.107917282C>G | CA457109328 | DLD | c.1056C>G (p.Ala352=) c.*730C>G (n.*730C>G) c.912C>G (p.Ala304=) c.987C>G (p.Ala329=) c.759C>G (p.Ala253=) | |
| 7 | g.107917282C>T | CA457109329 | DLD | c.1056C>T (p.Ala352=) c.*730C>T (n.*730C>T) c.912C>T (p.Ala304=) c.987C>T (p.Ala329=) c.759C>T (p.Ala253=) | |
| 7 | g.107917283A>C | CA368858028 | DLD | c.1057A>C (p.Ile353Leu) c.*731A>C (n.*731A>C) c.913A>C (p.Ile305Leu) c.988A>C (p.Ile330Leu) c.760A>C (p.Ile254Leu) | |
| 7 | g.107917283A>G | CA368858031 | DLD | c.1057A>G (p.Ile353Val) c.*731A>G (n.*731A>G) c.913A>G (p.Ile305Val) c.988A>G (p.Ile330Val) c.760A>G (p.Ile254Val) | |
| 7 | g.107917283A>T | CA368858029 | DLD | c.1057A>T (p.Ile353Phe) c.*731A>T (n.*731A>T) c.913A>T (p.Ile305Phe) c.988A>T (p.Ile330Phe) c.760A>T (p.Ile254Phe) | |
| 7 | g.107917284T>A | CA368858032 | DLD | c.1058T>A (p.Ile353Asn) c.*732T>A (n.*732T>A) c.914T>A (p.Ile305Asn) c.989T>A (p.Ile330Asn) c.761T>A (p.Ile254Asn) | |
| 7 | g.107917284T>C | CA368858034 | DLD | c.1058T>C (p.Ile353Thr) c.*732T>C (n.*732T>C) c.914T>C (p.Ile305Thr) c.989T>C (p.Ile330Thr) c.761T>C (p.Ile254Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107917284T>G | CA368858035 | DLD | c.1058T>G (p.Ile353Ser) c.*732T>G (n.*732T>G) c.914T>G (p.Ile305Ser) c.989T>G (p.Ile330Ser) c.761T>G (p.Ile254Ser) | |
| 7 | g.107917285T>A | CA457109332 | DLD | c.1059T>A (p.Ile353=) c.*733T>A (n.*733T>A) c.915T>A (p.Ile305=) c.990T>A (p.Ile330=) c.762T>A (p.Ile254=) | |
| 7 | g.107917285T>C | CA457109334 | DLD | c.1059T>C (p.Ile353=) c.*733T>C (n.*733T>C) c.915T>C (p.Ile305=) c.990T>C (p.Ile330=) c.762T>C (p.Ile254=) | |
| 7 | g.107917285T>G | CA368858037 | DLD | c.1059T>G (p.Ile353Met) c.*733T>G (n.*733T>G) c.915T>G (p.Ile305Met) c.990T>G (p.Ile330Met) c.762T>G (p.Ile254Met) | |
| 7 | g.107917286G>A | CA368858039 | DLD | c.1060G>A (p.Gly354Ser) c.*734G>A (n.*734G>A) c.916G>A (p.Gly306Ser) c.991G>A (p.Gly331Ser) c.763G>A (p.Gly255Ser) | |
| 7 | g.107917286G>C | CA368858042 | DLD | c.1060G>C (p.Gly354Arg) c.*734G>C (n.*734G>C) c.916G>C (p.Gly306Arg) c.991G>C (p.Gly331Arg) c.763G>C (p.Gly255Arg) | |
| 7 | g.107917286G>T | CA368858040 | DLD | c.1060G>T (p.Gly354Cys) c.*734G>T (n.*734G>T) c.916G>T (p.Gly306Cys) c.991G>T (p.Gly331Cys) c.763G>T (p.Gly255Cys) | |
| 7 | g.107917287G>A | CA368858043 | DLD | c.1061G>A (p.Gly354Asp) c.*735G>A (n.*735G>A) c.917G>A (p.Gly306Asp) c.992G>A (p.Gly331Asp) c.764G>A (p.Gly255Asp) | |
| 7 | g.107917287G>C | CA368858045 | DLD | c.1061G>C (p.Gly354Ala) c.*735G>C (n.*735G>C) c.917G>C (p.Gly306Ala) c.992G>C (p.Gly331Ala) c.764G>C (p.Gly255Ala) | gnomAD v4 |
| 7 | g.107917287G>T | CA368858046 | DLD | c.1061G>T (p.Gly354Val) c.*735G>T (n.*735G>T) c.917G>T (p.Gly306Val) c.992G>T (p.Gly331Val) c.764G>T (p.Gly255Val) | gnomAD v4 |
| 7 | g.107917288T>A | CA457109341 | DLD | c.1062T>A (p.Gly354=) c.*736T>A (n.*736T>A) c.918T>A (p.Gly306=) c.993T>A (p.Gly331=) c.765T>A (p.Gly255=) | |
| 7 | g.107917288T>C | CA457109343 | DLD | c.1062T>C (p.Gly354=) c.*736T>C (n.*736T>C) c.918T>C (p.Gly306=) c.993T>C (p.Gly331=) c.765T>C (p.Gly255=) | |
| 7 | g.107917288T>G | CA457109342 | DLD | c.1062T>G (p.Gly354=) c.*736T>G (n.*736T>G) c.918T>G (p.Gly306=) c.993T>G (p.Gly331=) c.765T>G (p.Gly255=) | |
| 7 | g.107917289G>A | CA368858049 | DLD | c.1063G>A (p.Asp355Asn) c.*737G>A (n.*737G>A) c.919G>A (p.Asp307Asn) c.994G>A (p.Asp332Asn) c.766G>A (p.Asp256Asn) | |
| 7 | g.107917289G>C | CA368858050 | DLD | c.1063G>C (p.Asp355His) c.*737G>C (n.*737G>C) c.919G>C (p.Asp307His) c.994G>C (p.Asp332His) c.766G>C (p.Asp256His) | |
| 7 | g.107917289G>T | CA368858052 | DLD | c.1063G>T (p.Asp355Tyr) c.*737G>T (n.*737G>T) c.919G>T (p.Asp307Tyr) c.994G>T (p.Asp332Tyr) c.766G>T (p.Asp256Tyr) | |
| 7 | g.107917290A>C | CA368858053 | DLD | c.1064A>C (p.Asp355Ala) c.*738A>C (n.*738A>C) c.920A>C (p.Asp307Ala) c.995A>C (p.Asp332Ala) c.767A>C (p.Asp256Ala) | |
| 7 | g.107917290A>G | CA368858055 | DLD | c.1064A>G (p.Asp355Gly) c.*738A>G (n.*738A>G) c.920A>G (p.Asp307Gly) c.995A>G (p.Asp332Gly) c.767A>G (p.Asp256Gly) | |
| 7 | g.107917290A>T | CA368858056 | DLD | c.1064A>T (p.Asp355Val) c.*738A>T (n.*738A>T) c.920A>T (p.Asp307Val) c.995A>T (p.Asp332Val) c.767A>T (p.Asp256Val) | |
| 7 | g.107917291T>A | CA368858058 | DLD | c.1065T>A (p.Asp355Glu) c.*739T>A (n.*739T>A) c.921T>A (p.Asp307Glu) c.996T>A (p.Asp332Glu) c.768T>A (p.Asp256Glu) | |
| 7 | g.107917291T>C | CA457109351 | DLD | c.1065T>C (p.Asp355=) c.*739T>C (n.*739T>C) c.921T>C (p.Asp307=) c.996T>C (p.Asp332=) c.768T>C (p.Asp256=) | |
| 7 | g.107917291T>G | CA368858061 | DLD | c.1065T>G (p.Asp355Glu) c.*739T>G (n.*739T>G) c.921T>G (p.Asp307Glu) c.996T>G (p.Asp332Glu) c.768T>G (p.Asp256Glu) | ClinVar |
| 7 | g.107917292G>A | CA368858063 | DLD | c.1066G>A (p.Val356Ile) c.*740G>A (n.*740G>A) c.922G>A (p.Val308Ile) c.997G>A (p.Val333Ile) c.769G>A (p.Val257Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917292G>C | CA368858070 | DLD | c.1066G>C (p.Val356Leu) c.*740G>C (n.*740G>C) c.922G>C (p.Val308Leu) c.997G>C (p.Val333Leu) c.769G>C (p.Val257Leu) | |
| 7 | g.107917292G= | CA1732860026 | DLD | c.1066G= (p.Val356=) c.*740G= (n.*740G=) c.922G= (p.Val308=) c.997G= (p.Val333=) c.769G= (p.Val257=) | |
| 7 | g.107917292G>T | CA368858065 | DLD | c.1066G>T (p.Val356Leu) c.*740G>T (n.*740G>T) c.922G>T (p.Val308Leu) c.997G>T (p.Val333Leu) c.769G>T (p.Val257Leu) | |
| 7 | g.107917293T>A | CA368858072 | DLD | c.1067T>A (p.Val356Glu) c.*741T>A (n.*741T>A) c.923T>A (p.Val308Glu) c.998T>A (p.Val333Glu) c.770T>A (p.Val257Glu) | |
| 7 | g.107917293T>C | CA368858075 | DLD | c.1067T>C (p.Val356Ala) c.*741T>C (n.*741T>C) c.923T>C (p.Val308Ala) c.998T>C (p.Val333Ala) c.770T>C (p.Val257Ala) | |
| 7 | g.107917293T>G | CA368858073 | DLD | c.1067T>G (p.Val356Gly) c.*741T>G (n.*741T>G) c.923T>G (p.Val308Gly) c.998T>G (p.Val333Gly) c.770T>G (p.Val257Gly) | |
| 7 | g.107917294_107917297dup | CA1105644876 | DLD | c.1068_1071dup (p.Ala358SerfsTer13) c.*742_*745dup (n.*742_*745dup) c.924_927dup (p.Ala310SerfsTer13) c.999_1002dup (p.Ala335SerfsTer13) c.771_774dup (p.Ala259SerfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917294A>C | CA457109352 | DLD | c.1068A>C (p.Val356=) c.*742A>C (n.*742A>C) c.924A>C (p.Val308=) c.999A>C (p.Val333=) c.771A>C (p.Val257=) | |
| 7 | g.107917294A>G | CA457109353 | DLD | c.1068A>G (p.Val356=) c.*742A>G (n.*742A>G) c.924A>G (p.Val308=) c.999A>G (p.Val333=) c.771A>G (p.Val257=) | |
| 7 | g.107917294A>T | CA457109354 | DLD | c.1068A>T (p.Val356=) c.*742A>T (n.*742A>T) c.924A>T (p.Val308=) c.999A>T (p.Val333=) c.771A>T (p.Val257=) | |
| 7 | g.107917295G>A | CA368858076 | DLD | c.1069G>A (p.Val357Ile) c.*743G>A (n.*743G>A) c.925G>A (p.Val309Ile) c.1000G>A (p.Val334Ile) c.772G>A (p.Val258Ile) | |
| 7 | g.107917295G>C | CA368858078 | DLD | c.1069G>C (p.Val357Leu) c.*743G>C (n.*743G>C) c.925G>C (p.Val309Leu) c.1000G>C (p.Val334Leu) c.772G>C (p.Val258Leu) | |
| 7 | g.107917295G>T | CA368858079 | DLD | c.1069G>T (p.Val357Phe) c.*743G>T (n.*743G>T) c.925G>T (p.Val309Phe) c.1000G>T (p.Val334Phe) c.772G>T (p.Val258Phe) | |
| 7 | g.107917296T>A | CA368858080 | DLD | c.1070T>A (p.Val357Asp) c.*744T>A (n.*744T>A) c.926T>A (p.Val309Asp) c.1001T>A (p.Val334Asp) c.773T>A (p.Val258Asp) | |
| 7 | g.107917296T>C | CA368858082 | DLD | c.1070T>C (p.Val357Ala) c.*744T>C (n.*744T>C) c.926T>C (p.Val309Ala) c.1001T>C (p.Val334Ala) c.773T>C (p.Val258Ala) | |
| 7 | g.107917296T>G | CA368858084 | DLD | c.1070T>G (p.Val357Gly) c.*744T>G (n.*744T>G) c.926T>G (p.Val309Gly) c.1001T>G (p.Val334Gly) c.773T>G (p.Val258Gly) | |
| 7 | g.107917297T>A | CA457109358 | DLD | c.1071T>A (p.Val357=) c.*745T>A (n.*745T>A) c.927T>A (p.Val309=) c.1002T>A (p.Val334=) c.774T>A (p.Val258=) | |
| 7 | g.107917297T>C | CA457109359 | DLD | c.1071T>C (p.Val357=) c.*745T>C (n.*745T>C) c.927T>C (p.Val309=) c.1002T>C (p.Val334=) c.774T>C (p.Val258=) | |
| 7 | g.107917297T>G | CA457109361 | DLD | c.1071T>G (p.Val357=) c.*745T>G (n.*745T>G) c.927T>G (p.Val309=) c.1002T>G (p.Val334=) c.774T>G (p.Val258=) | |
| 7 | g.107917298G>A | CA368858085 | DLD | c.1072G>A (p.Ala358Thr) c.*746G>A (n.*746G>A) c.928G>A (p.Ala310Thr) c.1003G>A (p.Ala335Thr) c.775G>A (p.Ala259Thr) | |
| 7 | g.107917298G>C | CA368858087 | DLD | c.1072G>C (p.Ala358Pro) c.*746G>C (n.*746G>C) c.928G>C (p.Ala310Pro) c.1003G>C (p.Ala335Pro) c.775G>C (p.Ala259Pro) | |
| 7 | g.107917298G>T | CA368858088 | DLD | c.1072G>T (p.Ala358Ser) c.*746G>T (n.*746G>T) c.928G>T (p.Ala310Ser) c.1003G>T (p.Ala335Ser) c.775G>T (p.Ala259Ser) | |
| 7 | g.107917299C>A | CA368858090 | DLD | c.1073C>A (p.Ala358Asp) c.*747C>A (n.*747C>A) c.929C>A (p.Ala310Asp) c.1004C>A (p.Ala335Asp) c.776C>A (p.Ala259Asp) | |
| 7 | g.107917299C>G | CA368858092 | DLD | c.1073C>G (p.Ala358Gly) c.*747C>G (n.*747C>G) c.929C>G (p.Ala310Gly) c.1004C>G (p.Ala335Gly) c.776C>G (p.Ala259Gly) | |
| 7 | g.107917299C>T | CA368858093 | DLD | c.1073C>T (p.Ala358Val) c.*747C>T (n.*747C>T) c.929C>T (p.Ala310Val) c.1004C>T (p.Ala335Val) c.776C>T (p.Ala259Val) | gnomAD v4 |
| 7 | g.107917300T>A | CA4434625 | DLD | c.1074T>A (p.Ala358=) c.*748T>A (n.*748T>A) c.930T>A (p.Ala310=) c.1005T>A (p.Ala335=) c.777T>A (p.Ala259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917300T>C | CA457109367 | DLD | c.1074T>C (p.Ala358=) c.*748T>C (n.*748T>C) c.930T>C (p.Ala310=) c.1005T>C (p.Ala335=) c.777T>C (p.Ala259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917300T>G | CA457109369 | DLD | c.1074T>G (p.Ala358=) c.*748T>G (n.*748T>G) c.930T>G (p.Ala310=) c.1005T>G (p.Ala335=) c.777T>G (p.Ala259=) | |
| 7 | g.107917300T= | CA1732860027 | DLD | c.1074T= (p.Ala358=) c.*748T= (n.*748T=) c.930T= (p.Ala310=) c.1005T= (p.Ala335=) c.777T= (p.Ala259=) | |
| 7 | g.107917301G>A | CA368858095 | DLD | c.1075G>A (p.Gly359Ser) c.*749G>A (n.*749G>A) c.931G>A (p.Gly311Ser) c.1006G>A (p.Gly336Ser) c.778G>A (p.Gly260Ser) | |
| 7 | g.107917301G>C | CA368858097 | DLD | c.1075G>C (p.Gly359Arg) c.*749G>C (n.*749G>C) c.931G>C (p.Gly311Arg) c.1006G>C (p.Gly336Arg) c.778G>C (p.Gly260Arg) | |
| 7 | g.107917301G>T | CA368858098 | DLD | c.1075G>T (p.Gly359Cys) c.*749G>T (n.*749G>T) c.931G>T (p.Gly311Cys) c.1006G>T (p.Gly336Cys) c.778G>T (p.Gly260Cys) | |
| 7 | g.107917302G>A | CA368858100 | DLD | c.1076G>A (p.Gly359Asp) c.*750G>A (n.*750G>A) c.932G>A (p.Gly311Asp) c.1007G>A (p.Gly336Asp) c.779G>A (p.Gly260Asp) | |
| 7 | g.107917302G>C | CA368858102 | DLD | c.1076G>C (p.Gly359Ala) c.*750G>C (n.*750G>C) c.932G>C (p.Gly311Ala) c.1007G>C (p.Gly336Ala) c.779G>C (p.Gly260Ala) | |
| 7 | g.107917302G>T | CA368858103 | DLD | c.1076G>T (p.Gly359Val) c.*750G>T (n.*750G>T) c.932G>T (p.Gly311Val) c.1007G>T (p.Gly336Val) c.779G>T (p.Gly260Val) | |
| 7 | g.107917303T>A | CA457109371 | DLD | c.1077T>A (p.Gly359=) c.*751T>A (n.*751T>A) c.933T>A (p.Gly311=) c.1008T>A (p.Gly336=) c.780T>A (p.Gly260=) | |
| 7 | g.107917303T>C | CA457109372 | DLD | c.1077T>C (p.Gly359=) c.*751T>C (n.*751T>C) c.933T>C (p.Gly311=) c.1008T>C (p.Gly336=) c.780T>C (p.Gly260=) | |
| 7 | g.107917303T>G | CA457109374 | DLD | c.1077T>G (p.Gly359=) c.*751T>G (n.*751T>G) c.933T>G (p.Gly311=) c.1008T>G (p.Gly336=) c.780T>G (p.Gly260=) | |
| 7 | g.107917304C>A | CA368858105 | DLD | c.1078C>A (p.Pro360Thr) c.*752C>A (n.*752C>A) c.934C>A (p.Pro312Thr) c.1009C>A (p.Pro337Thr) c.781C>A (p.Pro261Thr) | gnomAD v4 |
| 7 | g.107917304C>G | CA368858107 | DLD | c.1078C>G (p.Pro360Ala) c.*752C>G (n.*752C>G) c.934C>G (p.Pro312Ala) c.1009C>G (p.Pro337Ala) c.781C>G (p.Pro261Ala) | |
| 7 | g.107917304C>T | CA368858108 | DLD | c.1078C>T (p.Pro360Ser) c.*752C>T (n.*752C>T) c.934C>T (p.Pro312Ser) c.1009C>T (p.Pro337Ser) c.781C>T (p.Pro261Ser) | |
| 7 | g.107917305C>A | CA368858109 | DLD | c.1079C>A (p.Pro360Gln) c.*753C>A (n.*753C>A) c.935C>A (p.Pro312Gln) c.1010C>A (p.Pro337Gln) c.782C>A (p.Pro261Gln) | |
| 7 | g.107917305C>G | CA368858111 | DLD | c.1079C>G (p.Pro360Arg) c.*753C>G (n.*753C>G) c.935C>G (p.Pro312Arg) c.1010C>G (p.Pro337Arg) c.782C>G (p.Pro261Arg) | |
| 7 | g.107917305C>T | CA368858113 | DLD | c.1079C>T (p.Pro360Leu) c.*753C>T (n.*753C>T) c.935C>T (p.Pro312Leu) c.1010C>T (p.Pro337Leu) c.782C>T (p.Pro261Leu) | |
| 7 | g.107917306A>C | CA457109380 | DLD | c.1080A>C (p.Pro360=) c.*754A>C (n.*754A>C) c.936A>C (p.Pro312=) c.1011A>C (p.Pro337=) c.783A>C (p.Pro261=) | |
| 7 | g.107917306A>G | CA457109381 | DLD | c.1080A>G (p.Pro360=) c.*754A>G (n.*754A>G) c.936A>G (p.Pro312=) c.1011A>G (p.Pro337=) c.783A>G (p.Pro261=) | |
| 7 | g.107917306A>T | CA457109383 | DLD | c.1080A>T (p.Pro360=) c.*754A>T (n.*754A>T) c.936A>T (p.Pro312=) c.1011A>T (p.Pro337=) c.783A>T (p.Pro261=) | |
| 7 | g.107917306_107917312dup | CA2695199607 | DLD | c.1080_1086dup (p.Ala363AsnfsTer9) c.*754_*760dup (n.*754_*760dup) c.936_942dup (p.Ala315AsnfsTer9) c.1011_1017dup (p.Ala340AsnfsTer9) c.783_789dup (p.Ala264AsnfsTer9) | ClinVar |
| 7 | g.107917307A= | CA1732860028 | DLD | c.1081A= (p.Met361=) c.*755A= (n.*755A=) c.937A= (p.Met313=) c.1012A= (p.Met338=) c.784A= (p.Met262=) | |
| 7 | g.107917307A>C | CA368858116 | DLD | c.1081A>C (p.Met361Leu) c.*755A>C (n.*755A>C) c.937A>C (p.Met313Leu) c.1012A>C (p.Met338Leu) c.784A>C (p.Met262Leu) | |
| 7 | g.107917307A>G | CA256139 | DLD | c.1081A>G (p.Met361Val) c.*755A>G (n.*755A>G) c.937A>G (p.Met313Val) c.1012A>G (p.Met338Val) c.784A>G (p.Met262Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917307A>T | CA368858115 | DLD | c.1081A>T (p.Met361Leu) c.*755A>T (n.*755A>T) c.937A>T (p.Met313Leu) c.1012A>T (p.Met338Leu) c.784A>T (p.Met262Leu) | |
| 7 | g.107917308T>A | CA368858119 | DLD | c.1082T>A (p.Met361Lys) c.*756T>A (n.*756T>A) c.938T>A (p.Met313Lys) c.1013T>A (p.Met338Lys) c.785T>A (p.Met262Lys) | |
| 7 | g.107917308T>C | CA368858120 | DLD | c.1082T>C (p.Met361Thr) c.*756T>C (n.*756T>C) c.938T>C (p.Met313Thr) c.1013T>C (p.Met338Thr) c.785T>C (p.Met262Thr) | |
| 7 | g.107917308T>G | CA368858121 | DLD | c.1082T>G (p.Met361Arg) c.*756T>G (n.*756T>G) c.938T>G (p.Met313Arg) c.1013T>G (p.Met338Arg) c.785T>G (p.Met262Arg) | |
| 7 | g.107917309G>A | CA368858122 | DLD | c.1083G>A (p.Met361Ile) c.*757G>A (n.*757G>A) c.939G>A (p.Met313Ile) c.1014G>A (p.Met338Ile) c.786G>A (p.Met262Ile) | |
| 7 | g.107917309G>C | CA368858124 | DLD | c.1083G>C (p.Met361Ile) c.*757G>C (n.*757G>C) c.939G>C (p.Met313Ile) c.1014G>C (p.Met338Ile) c.786G>C (p.Met262Ile) | |
| 7 | g.107917309G>T | CA368858126 | DLD | c.1083G>T (p.Met361Ile) c.*757G>T (n.*757G>T) c.939G>T (p.Met313Ile) c.1014G>T (p.Met338Ile) c.786G>T (p.Met262Ile) | |
| 7 | g.107917310C>A | CA368858129 | DLD | c.1084C>A (p.Leu362Met) c.*758C>A (n.*758C>A) c.940C>A (p.Leu314Met) c.1015C>A (p.Leu339Met) c.787C>A (p.Leu263Met) | |
| 7 | g.107917310C>G | CA368858127 | DLD | c.1084C>G (p.Leu362Val) c.*758C>G (n.*758C>G) c.940C>G (p.Leu314Val) c.1015C>G (p.Leu339Val) c.787C>G (p.Leu263Val) | |
| 7 | g.107917310C>T | CA457109390 | DLD | c.1084C>T (p.Leu362=) c.*758C>T (n.*758C>T) c.940C>T (p.Leu314=) c.1015C>T (p.Leu339=) c.787C>T (p.Leu263=) | |
| 7 | g.107917311T>A | CA368858130 | DLD | c.1085T>A (p.Leu362Gln) c.*759T>A (n.*759T>A) c.941T>A (p.Leu314Gln) c.1016T>A (p.Leu339Gln) c.788T>A (p.Leu263Gln) | |
| 7 | g.107917311T>C | CA368858131 | DLD | c.1085T>C (p.Leu362Pro) c.*759T>C (n.*759T>C) c.941T>C (p.Leu314Pro) c.1016T>C (p.Leu339Pro) c.788T>C (p.Leu263Pro) | |
| 7 | g.107917311T>G | CA368858133 | DLD | c.1085T>G (p.Leu362Arg) c.*759T>G (n.*759T>G) c.941T>G (p.Leu314Arg) c.1016T>G (p.Leu339Arg) c.788T>G (p.Leu263Arg) | |
| 7 | g.107917312G>A | CA457109397 | DLD | c.1086G>A (p.Leu362=) c.*760G>A (n.*760G>A) c.942G>A (p.Leu314=) c.1017G>A (p.Leu339=) c.789G>A (p.Leu263=) | COSMIC COSMIC |
| 7 | g.107917312G>C | CA457109395 | DLD | c.1086G>C (p.Leu362=) c.*760G>C (n.*760G>C) c.942G>C (p.Leu314=) c.1017G>C (p.Leu339=) c.789G>C (p.Leu263=) | |
| 7 | g.107917312G>T | CA457109396 | DLD | c.1086G>T (p.Leu362=) c.*760G>T (n.*760G>T) c.942G>T (p.Leu314=) c.1017G>T (p.Leu339=) c.789G>T (p.Leu263=) | |
| 7 | g.107917313G>A | CA368858134 | DLD | c.1087G>A (p.Ala363Thr) c.*761G>A (n.*761G>A) c.943G>A (p.Ala315Thr) c.1018G>A (p.Ala340Thr) c.790G>A (p.Ala264Thr) | |
| 7 | g.107917313G>C | CA368858136 | DLD | c.1087G>C (p.Ala363Pro) c.*761G>C (n.*761G>C) c.943G>C (p.Ala315Pro) c.1018G>C (p.Ala340Pro) c.790G>C (p.Ala264Pro) | |
| 7 | g.107917313G>T | CA368858137 | DLD | c.1087G>T (p.Ala363Ser) c.*761G>T (n.*761G>T) c.943G>T (p.Ala315Ser) c.1018G>T (p.Ala340Ser) c.790G>T (p.Ala264Ser) | gnomAD v4 |
| 7 | g.107917314C>A | CA368858139 | DLD | c.1088C>A (p.Ala363Asp) c.*762C>A (n.*762C>A) c.944C>A (p.Ala315Asp) c.1019C>A (p.Ala340Asp) c.791C>A (p.Ala264Asp) | |
| 7 | g.107917314C= | CA1732860029 | DLD | c.1088C= (p.Ala363=) c.*762C= (n.*762C=) c.944C= (p.Ala315=) c.1019C= (p.Ala340=) c.791C= (p.Ala264=) | |
| 7 | g.107917314C>G | CA368858142 | DLD | c.1088C>G (p.Ala363Gly) c.*762C>G (n.*762C>G) c.944C>G (p.Ala315Gly) c.1019C>G (p.Ala340Gly) c.791C>G (p.Ala264Gly) | |
| 7 | g.107917314C>T | CA4434626 | DLD | c.1088C>T (p.Ala363Val) c.*762C>T (n.*762C>T) c.944C>T (p.Ala315Val) c.1019C>T (p.Ala340Val) c.791C>T (p.Ala264Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917315T>A | CA457109402 | DLD | c.1089T>A (p.Ala363=) c.*763T>A (n.*763T>A) c.945T>A (p.Ala315=) c.1020T>A (p.Ala340=) c.792T>A (p.Ala264=) | |
| 7 | g.107917315T>C | CA457109404 | DLD | c.1089T>C (p.Ala363=) c.*763T>C (n.*763T>C) c.945T>C (p.Ala315=) c.1020T>C (p.Ala340=) c.792T>C (p.Ala264=) | |
| 7 | g.107917315T>G | CA457109403 | DLD | c.1089T>G (p.Ala363=) c.*763T>G (n.*763T>G) c.945T>G (p.Ala315=) c.1020T>G (p.Ala340=) c.792T>G (p.Ala264=) | |
| 7 | g.107917316C>A | CA368858144 | DLD | c.1090C>A (p.His364Asn) c.*764C>A (n.*764C>A) c.946C>A (p.His316Asn) c.1021C>A (p.His341Asn) c.793C>A (p.His265Asn) | gnomAD v4 |
| 7 | g.107917316C>G | CA368858145 | DLD | c.1090C>G (p.His364Asp) c.*764C>G (n.*764C>G) c.946C>G (p.His316Asp) c.1021C>G (p.His341Asp) c.793C>G (p.His265Asp) | |
| 7 | g.107917316C>T | CA368858147 | DLD | c.1090C>T (p.His364Tyr) c.*764C>T (n.*764C>T) c.946C>T (p.His316Tyr) c.1021C>T (p.His341Tyr) c.793C>T (p.His265Tyr) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107917317A>C | CA368858149 | DLD | c.1091A>C (p.His364Pro) c.*765A>C (n.*765A>C) c.947A>C (p.His316Pro) c.1022A>C (p.His341Pro) c.794A>C (p.His265Pro) | |
| 7 | g.107917317A>G | CA368858150 | DLD | c.1091A>G (p.His364Arg) c.*765A>G (n.*765A>G) c.947A>G (p.His316Arg) c.1022A>G (p.His341Arg) c.794A>G (p.His265Arg) | |
| 7 | g.107917317A>T | CA368858151 | DLD | c.1091A>T (p.His364Leu) c.*765A>T (n.*765A>T) c.947A>T (p.His316Leu) c.1022A>T (p.His341Leu) c.794A>T (p.His265Leu) | |
| 7 | g.107917318C>A | CA368858153 | DLD | c.1092C>A (p.His364Gln) c.*766C>A (n.*766C>A) c.948C>A (p.His316Gln) c.1023C>A (p.His341Gln) c.795C>A (p.His265Gln) | |
| 7 | g.107917318C>G | CA368858155 | DLD | c.1092C>G (p.His364Gln) c.*766C>G (n.*766C>G) c.948C>G (p.His316Gln) c.1023C>G (p.His341Gln) c.795C>G (p.His265Gln) | gnomAD v4 |
| 7 | g.107917318C>T | CA457109407 | DLD | c.1092C>T (p.His364=) c.*766C>T (n.*766C>T) c.948C>T (p.His316=) c.1023C>T (p.His341=) c.795C>T (p.His265=) | |
| 7 | g.107917319A>C | CA368858156 | DLD | c.1093A>C (p.Lys365Gln) c.*767A>C (n.*767A>C) c.949A>C (p.Lys317Gln) c.1024A>C (p.Lys342Gln) c.796A>C (p.Lys266Gln) | |
| 7 | g.107917319A>G | CA368858157 | DLD | c.1093A>G (p.Lys365Glu) c.*767A>G (n.*767A>G) c.949A>G (p.Lys317Glu) c.1024A>G (p.Lys342Glu) c.796A>G (p.Lys266Glu) | |
| 7 | g.107917319A>T | CA368858159 | DLD | c.1093A>T (p.Lys365Ter) c.*767A>T (n.*767A>T) c.949A>T (p.Lys317Ter) c.1024A>T (p.Lys342Ter) c.796A>T (p.Lys266Ter) | |
| 7 | g.107917320A>C | CA368858164 | DLD | c.1094A>C (p.Lys365Thr) c.*768A>C (n.*768A>C) c.950A>C (p.Lys317Thr) c.1025A>C (p.Lys342Thr) c.797A>C (p.Lys266Thr) | |
| 7 | g.107917320A>G | CA368858163 | DLD | c.1094A>G (p.Lys365Arg) c.*768A>G (n.*768A>G) c.950A>G (p.Lys317Arg) c.1025A>G (p.Lys342Arg) c.797A>G (p.Lys266Arg) | |
| 7 | g.107917320A>T | CA368858161 | DLD | c.1094A>T (p.Lys365Ile) c.*768A>T (n.*768A>T) c.950A>T (p.Lys317Ile) c.1025A>T (p.Lys342Ile) c.797A>T (p.Lys266Ile) | |
| 7 | g.107917321A>C | CA368858165 | DLD | c.1095A>C (p.Lys365Asn) c.*769A>C (n.*769A>C) c.951A>C (p.Lys317Asn) c.1026A>C (p.Lys342Asn) c.798A>C (p.Lys266Asn) | |
| 7 | g.107917321A>G | CA457109410 | DLD | c.1095A>G (p.Lys365=) c.*769A>G (n.*769A>G) c.951A>G (p.Lys317=) c.1026A>G (p.Lys342=) c.798A>G (p.Lys266=) | ClinVar |
| 7 | g.107917321A>T | CA368858167 | DLD | c.1095A>T (p.Lys365Asn) c.*769A>T (n.*769A>T) c.951A>T (p.Lys317Asn) c.1026A>T (p.Lys342Asn) c.798A>T (p.Lys266Asn) | |
| 7 | g.107917322G>A | CA368858169 | DLD | c.1096G>A (p.Ala366Thr) c.*770G>A (n.*770G>A) c.952G>A (p.Ala318Thr) c.1027G>A (p.Ala343Thr) c.799G>A (p.Ala267Thr) | |
| 7 | g.107917322G>C | CA368858172 | DLD | c.1096G>C (p.Ala366Pro) c.*770G>C (n.*770G>C) c.952G>C (p.Ala318Pro) c.1027G>C (p.Ala343Pro) c.799G>C (p.Ala267Pro) | |
| 7 | g.107917322G>T | CA368858171 | DLD | c.1096G>T (p.Ala366Ser) c.*770G>T (n.*770G>T) c.952G>T (p.Ala318Ser) c.1027G>T (p.Ala343Ser) c.799G>T (p.Ala267Ser) | |
| 7 | g.107917323C>A | CA368858173 | DLD | c.1097C>A (p.Ala366Glu) c.*771C>A (n.*771C>A) c.953C>A (p.Ala318Glu) c.1028C>A (p.Ala343Glu) c.800C>A (p.Ala267Glu) | |
| 7 | g.107917323C>G | CA368858174 | DLD | c.1097C>G (p.Ala366Gly) c.*771C>G (n.*771C>G) c.953C>G (p.Ala318Gly) c.1028C>G (p.Ala343Gly) c.800C>G (p.Ala267Gly) | |
| 7 | g.107917323C>T | CA368858176 | DLD | c.1097C>T (p.Ala366Val) c.*771C>T (n.*771C>T) c.953C>T (p.Ala318Val) c.1028C>T (p.Ala343Val) c.800C>T (p.Ala267Val) | |
| 7 | g.107917323_107917324insCAAT | CA2553443057 | DLD | c.1097_1098insCAAT (p.Glu367AsnfsTer4) c.*771_*772insCAAT (n.*771_*772insCAAT) c.953_954insCAAT (p.Glu319AsnfsTer4) c.1028_1029insCAAT (p.Glu344AsnfsTer4) c.800_801insCAAT (p.Glu268AsnfsTer4) | |
| 7 | g.107917324A>C | CA457109415 | DLD | c.1098A>C (p.Ala366=) c.*772A>C (n.*772A>C) c.954A>C (p.Ala318=) c.1029A>C (p.Ala343=) c.801A>C (p.Ala267=) | |
| 7 | g.107917324A>G | CA457109417 | DLD | c.1098A>G (p.Ala366=) c.*772A>G (n.*772A>G) c.954A>G (p.Ala318=) c.1029A>G (p.Ala343=) c.801A>G (p.Ala267=) | |
| 7 | g.107917324A>T | CA457109420 | DLD | c.1098A>T (p.Ala366=) c.*772A>T (n.*772A>T) c.954A>T (p.Ala318=) c.1029A>T (p.Ala343=) c.801A>T (p.Ala267=) | |
| 7 | g.107917325G>A | CA368858178 | DLD | c.1099G>A (p.Glu367Lys) c.*773G>A (n.*773G>A) c.955G>A (p.Glu319Lys) c.1030G>A (p.Glu344Lys) c.802G>A (p.Glu268Lys) | |
| 7 | g.107917325G>C | CA368858179 | DLD | c.1099G>C (p.Glu367Gln) c.*773G>C (n.*773G>C) c.955G>C (p.Glu319Gln) c.1030G>C (p.Glu344Gln) c.802G>C (p.Glu268Gln) | |
| 7 | g.107917325G>T | CA368858180 | DLD | c.1099G>T (p.Glu367Ter) c.*773G>T (n.*773G>T) c.955G>T (p.Glu319Ter) c.1030G>T (p.Glu344Ter) c.802G>T (p.Glu268Ter) | gnomAD v4 |
| 7 | g.107917326A= | CA1732860030 | DLD | c.1100A= (p.Glu367=) c.*774A= (n.*774A=) c.956A= (p.Glu319=) c.1031A= (p.Glu344=) c.803A= (p.Glu268=) | |
| 7 | g.107917326A>C | CA368858181 | DLD | c.1100A>C (p.Glu367Ala) c.*774A>C (n.*774A>C) c.956A>C (p.Glu319Ala) c.1031A>C (p.Glu344Ala) c.803A>C (p.Glu268Ala) | |
| 7 | g.107917326A>G | CA4434627 | DLD | c.1100A>G (p.Glu367Gly) c.*774A>G (n.*774A>G) c.956A>G (p.Glu319Gly) c.1031A>G (p.Glu344Gly) c.803A>G (p.Glu268Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917326A>T | CA368858183 | DLD | c.1100A>T (p.Glu367Val) c.*774A>T (n.*774A>T) c.956A>T (p.Glu319Val) c.1031A>T (p.Glu344Val) c.803A>T (p.Glu268Val) | |
| 7 | g.107917327G>A | CA4434628 | DLD | c.1101G>A (p.Glu367=) c.*775G>A (n.*775G>A) c.957G>A (p.Glu319=) c.1032G>A (p.Glu344=) c.804G>A (p.Glu268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917327G>C | CA368858185 | DLD | c.1101G>C (p.Glu367Asp) c.*775G>C (n.*775G>C) c.957G>C (p.Glu319Asp) c.1032G>C (p.Glu344Asp) c.804G>C (p.Glu268Asp) | |
| 7 | g.107917327G= | CA1732860031 | DLD | c.1101G= (p.Glu367=) c.*775G= (n.*775G=) c.957G= (p.Glu319=) c.1032G= (p.Glu344=) c.804G= (p.Glu268=) | |
| 7 | g.107917327G>T | CA368858186 | DLD | c.1101G>T (p.Glu367Asp) c.*775G>T (n.*775G>T) c.957G>T (p.Glu319Asp) c.1032G>T (p.Glu344Asp) c.804G>T (p.Glu268Asp) | |
| 7 | g.107917328G>A | CA368858192 | DLD | c.1102G>A (p.Asp368Asn) c.*776G>A (n.*776G>A) c.958G>A (p.Asp320Asn) c.1033G>A (p.Asp345Asn) c.805G>A (p.Asp269Asn) | gnomAD v4 |
| 7 | g.107917328G>C | CA368858188 | DLD | c.1102G>C (p.Asp368His) c.*776G>C (n.*776G>C) c.958G>C (p.Asp320His) c.1033G>C (p.Asp345His) c.805G>C (p.Asp269His) | |
| 7 | g.107917328G>T | CA368858190 | DLD | c.1102G>T (p.Asp368Tyr) c.*776G>T (n.*776G>T) c.958G>T (p.Asp320Tyr) c.1033G>T (p.Asp345Tyr) c.805G>T (p.Asp269Tyr) | |
| 7 | g.107917329A>C | CA368858193 | DLD | c.1103A>C (p.Asp368Ala) c.*777A>C (n.*777A>C) c.959A>C (p.Asp320Ala) c.1034A>C (p.Asp345Ala) c.806A>C (p.Asp269Ala) | |
| 7 | g.107917329A>G | CA368858194 | DLD | c.1103A>G (p.Asp368Gly) c.*777A>G (n.*777A>G) c.959A>G (p.Asp320Gly) c.1034A>G (p.Asp345Gly) c.806A>G (p.Asp269Gly) | |
| 7 | g.107917329A>T | CA368858195 | DLD | c.1103A>T (p.Asp368Val) c.*777A>T (n.*777A>T) c.959A>T (p.Asp320Val) c.1034A>T (p.Asp345Val) c.806A>T (p.Asp269Val) | |
| 7 | g.107917330T>A | CA368858196 | DLD | c.1104T>A (p.Asp368Glu) c.*778T>A (n.*778T>A) c.960T>A (p.Asp320Glu) c.1035T>A (p.Asp345Glu) c.807T>A (p.Asp269Glu) | |
| 7 | g.107917330T>C | CA457109429 | DLD | c.1104T>C (p.Asp368=) c.*778T>C (n.*778T>C) c.960T>C (p.Asp320=) c.1035T>C (p.Asp345=) c.807T>C (p.Asp269=) | |
| 7 | g.107917330T>G | CA368858197 | DLD | c.1104T>G (p.Asp368Glu) c.*778T>G (n.*778T>G) c.960T>G (p.Asp320Glu) c.1035T>G (p.Asp345Glu) c.807T>G (p.Asp269Glu) | |
| 7 | g.107917331G>A | CA368858199 | DLD | c.1105G>A (p.Glu369Lys) c.*779G>A (n.*779G>A) c.961G>A (p.Glu321Lys) c.1036G>A (p.Glu346Lys) c.808G>A (p.Glu270Lys) | dbSNP |
| 7 | g.107917331G>C | CA368858200 | DLD | c.1105G>C (p.Glu369Gln) c.*779G>C (n.*779G>C) c.961G>C (p.Glu321Gln) c.1036G>C (p.Glu346Gln) c.808G>C (p.Glu270Gln) | |
| 7 | g.107917331G= | CA1732860032 | DLD | c.1105G= (p.Glu369=) c.*779G= (n.*779G=) c.961G= (p.Glu321=) c.1036G= (p.Glu346=) c.808G= (p.Glu270=) | |
| 7 | g.107917331G>T | CA368858202 | DLD | c.1105G>T (p.Glu369Ter) c.*779G>T (n.*779G>T) c.961G>T (p.Glu321Ter) c.1036G>T (p.Glu346Ter) c.808G>T (p.Glu270Ter) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.107917332A>C | CA368858203 | DLD | c.1106A>C (p.Glu369Ala) c.*780A>C (n.*780A>C) c.962A>C (p.Glu321Ala) c.1037A>C (p.Glu346Ala) c.809A>C (p.Glu270Ala) | |
| 7 | g.107917332A>G | CA368858204 | DLD | c.1106A>G (p.Glu369Gly) c.*780A>G (n.*780A>G) c.962A>G (p.Glu321Gly) c.1037A>G (p.Glu346Gly) c.809A>G (p.Glu270Gly) | |
| 7 | g.107917332A>T | CA368858205 | DLD | c.1106A>T (p.Glu369Val) c.*780A>T (n.*780A>T) c.962A>T (p.Glu321Val) c.1037A>T (p.Glu346Val) c.809A>T (p.Glu270Val) | |
| 7 | g.107917333A>C | CA368858209 | DLD | c.1107A>C (p.Glu369Asp) c.*781A>C (n.*781A>C) c.963A>C (p.Glu321Asp) c.1038A>C (p.Glu346Asp) c.810A>C (p.Glu270Asp) | |
| 7 | g.107917333A>G | CA457109432 | DLD | c.1107A>G (p.Glu369=) c.*781A>G (n.*781A>G) c.963A>G (p.Glu321=) c.1038A>G (p.Glu346=) c.810A>G (p.Glu270=) | |
| 7 | g.107917333A>T | CA368858207 | DLD | c.1107A>T (p.Glu369Asp) c.*781A>T (n.*781A>T) c.963A>T (p.Glu321Asp) c.1038A>T (p.Glu346Asp) c.810A>T (p.Glu270Asp) | |
| 7 | g.107917334G>A | CA368858211 | DLD | c.1108G>A (p.Gly370Ser) c.*782G>A (n.*782G>A) c.964G>A (p.Gly322Ser) c.1039G>A (p.Gly347Ser) c.811G>A (p.Gly271Ser) | |
| 7 | g.107917334G>C | CA368858212 | DLD | c.1108G>C (p.Gly370Arg) c.*782G>C (n.*782G>C) c.964G>C (p.Gly322Arg) c.1039G>C (p.Gly347Arg) c.811G>C (p.Gly271Arg) | |
| 7 | g.107917334G>T | CA368858214 | DLD | c.1108G>T (p.Gly370Cys) c.*782G>T (n.*782G>T) c.964G>T (p.Gly322Cys) c.1039G>T (p.Gly347Cys) c.811G>T (p.Gly271Cys) | |
| 7 | g.107917335G>A | CA368858216 | DLD | c.1109G>A (p.Gly370Asp) c.*783G>A (n.*783G>A) c.965G>A (p.Gly322Asp) c.1040G>A (p.Gly347Asp) c.812G>A (p.Gly271Asp) | gnomAD v4 |
| 7 | g.107917335G>C | CA368858218 | DLD | c.1109G>C (p.Gly370Ala) c.*783G>C (n.*783G>C) c.965G>C (p.Gly322Ala) c.1040G>C (p.Gly347Ala) c.812G>C (p.Gly271Ala) | dbSNP |
| 7 | g.107917335G= | CA1732860033 | DLD | c.1109G= (p.Gly370=) c.*783G= (n.*783G=) c.965G= (p.Gly322=) c.1040G= (p.Gly347=) c.812G= (p.Gly271=) | |
| 7 | g.107917335G>T | CA368858219 | DLD | c.1109G>T (p.Gly370Val) c.*783G>T (n.*783G>T) c.965G>T (p.Gly322Val) c.1040G>T (p.Gly347Val) c.812G>T (p.Gly271Val) | gnomAD v4 |
| 7 | g.107917335_107917338dup | CA2580076206 | DLD | c.1109_1112dup (p.Ile371MetfsTer6) c.*783_*786dup (n.*783_*786dup) c.965_968dup (p.Ile323MetfsTer6) c.1040_1043dup (p.Ile348MetfsTer6) c.812_815dup (p.Ile272MetfsTer6) | ClinVar |
| 7 | g.107917336C>A | CA457109437 | DLD | c.1110C>A (p.Gly370=) c.*784C>A (n.*784C>A) c.966C>A (p.Gly322=) c.1041C>A (p.Gly347=) c.813C>A (p.Gly271=) | |
| 7 | g.107917336C= | CA1732860034 | DLD | c.1110C= (p.Gly370=) c.*784C= (n.*784C=) c.966C= (p.Gly322=) c.1041C= (p.Gly347=) c.813C= (p.Gly271=) | |
| 7 | g.107917336C>G | CA457109438 | DLD | c.1110C>G (p.Gly370=) c.*784C>G (n.*784C>G) c.966C>G (p.Gly322=) c.1041C>G (p.Gly347=) c.813C>G (p.Gly271=) | |
| 7 | g.107917336C>T | CA457109439 | DLD | c.1110C>T (p.Gly370=) c.*784C>T (n.*784C>T) c.966C>T (p.Gly322=) c.1041C>T (p.Gly347=) c.813C>T (p.Gly271=) | dbSNP gnomAD v4 |
| 7 | g.107917337A>C | CA368858221 | DLD | c.1111A>C (p.Ile371Leu) c.*785A>C (n.*785A>C) c.967A>C (p.Ile323Leu) c.1042A>C (p.Ile348Leu) c.814A>C (p.Ile272Leu) | |
| 7 | g.107917337A>G | CA368858223 | DLD | c.1111A>G (p.Ile371Val) c.*785A>G (n.*785A>G) c.967A>G (p.Ile323Val) c.1042A>G (p.Ile348Val) c.814A>G (p.Ile272Val) | |
| 7 | g.107917337A>T | CA368858224 | DLD | c.1111A>T (p.Ile371Phe) c.*785A>T (n.*785A>T) c.967A>T (p.Ile323Phe) c.1042A>T (p.Ile348Phe) c.814A>T (p.Ile272Phe) | |
| 7 | g.107917338T>A | CA368858226 | DLD | c.1112T>A (p.Ile371Asn) c.*786T>A (n.*786T>A) c.968T>A (p.Ile323Asn) c.1043T>A (p.Ile348Asn) c.815T>A (p.Ile272Asn) | |
| 7 | g.107917338T>C | CA368858227 | DLD | c.1112T>C (p.Ile371Thr) c.*786T>C (n.*786T>C) c.968T>C (p.Ile323Thr) c.1043T>C (p.Ile348Thr) c.815T>C (p.Ile272Thr) | |
| 7 | g.107917338T>G | CA368858228 | DLD | c.1112T>G (p.Ile371Ser) c.*786T>G (n.*786T>G) c.968T>G (p.Ile323Ser) c.1043T>G (p.Ile348Ser) c.815T>G (p.Ile272Ser) | |
| 7 | g.107917339T>A | CA457109445 | DLD | c.1113T>A (p.Ile371=) c.*787T>A (n.*787T>A) c.969T>A (p.Ile323=) c.1044T>A (p.Ile348=) c.816T>A (p.Ile272=) | |
| 7 | g.107917339T>C | CA457109443 | DLD | c.1113T>C (p.Ile371=) c.*787T>C (n.*787T>C) c.969T>C (p.Ile323=) c.1044T>C (p.Ile348=) c.816T>C (p.Ile272=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107917339T>G | CA4434629 | DLD | c.1113T>G (p.Ile371Met) c.*787T>G (n.*787T>G) c.969T>G (p.Ile323Met) c.1044T>G (p.Ile348Met) c.816T>G (p.Ile272Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917339T= | CA1732860035 | DLD | c.1113T= (p.Ile371=) c.*787T= (n.*787T=) c.969T= (p.Ile323=) c.1044T= (p.Ile348=) c.816T= (p.Ile272=) | |
| 7 | g.107917340A>C | CA368858235 | DLD | c.1114A>C (p.Ile372Leu) c.*788A>C (n.*788A>C) c.970A>C (p.Ile324Leu) c.1045A>C (p.Ile349Leu) c.817A>C (p.Ile273Leu) | |
| 7 | g.107917340A>G | CA368858232 | DLD | c.1114A>G (p.Ile372Val) c.*788A>G (n.*788A>G) c.970A>G (p.Ile324Val) c.1045A>G (p.Ile349Val) c.817A>G (p.Ile273Val) | gnomAD v4 |
| 7 | g.107917340A>T | CA368858233 | DLD | c.1114A>T (p.Ile372Phe) c.*788A>T (n.*788A>T) c.970A>T (p.Ile324Phe) c.1045A>T (p.Ile349Phe) c.817A>T (p.Ile273Phe) | |
| 7 | g.107917341T>A | CA368858236 | DLD | c.1115T>A (p.Ile372Asn) c.*789T>A (n.*789T>A) c.971T>A (p.Ile324Asn) c.1046T>A (p.Ile349Asn) c.818T>A (p.Ile273Asn) | |
| 7 | g.107917341T>C | CA368858238 | DLD | c.1115T>C (p.Ile372Thr) c.*789T>C (n.*789T>C) c.971T>C (p.Ile324Thr) c.1046T>C (p.Ile349Thr) c.818T>C (p.Ile273Thr) | |
| 7 | g.107917341T>G | CA368858239 | DLD | c.1115T>G (p.Ile372Ser) c.*789T>G (n.*789T>G) c.971T>G (p.Ile324Ser) c.1046T>G (p.Ile349Ser) c.818T>G (p.Ile273Ser) | |
| 7 | g.107917342_107917343del | CA2580076207 | DLD | c.1116_1117del (p.Ile372MetfsTer3) c.*790_*791del (n.*790_*791del) c.972_973del (p.Ile324MetfsTer3) c.1047_1048del (p.Ile349MetfsTer3) c.819_820del (p.Ile273MetfsTer3) | ClinVar |
| 7 | g.107917342C>A | CA457109447 | DLD | c.1116C>A (p.Ile372=) c.*790C>A (n.*790C>A) c.972C>A (p.Ile324=) c.1047C>A (p.Ile349=) c.819C>A (p.Ile273=) | ClinVar dbSNP |
| 7 | g.107917342C>G | CA368858241 | DLD | c.1116C>G (p.Ile372Met) c.*790C>G (n.*790C>G) c.972C>G (p.Ile324Met) c.1047C>G (p.Ile349Met) c.819C>G (p.Ile273Met) | |
| 7 | g.107917342C>T | CA457109448 | DLD | c.1116C>T (p.Ile372=) c.*790C>T (n.*790C>T) c.972C>T (p.Ile324=) c.1047C>T (p.Ile349=) c.819C>T (p.Ile273=) | gnomAD v4 |
| 7 | g.107917343T>A | CA368858242 | DLD | c.1117T>A (p.Cys373Ser) c.*791T>A (n.*791T>A) c.973T>A (p.Cys325Ser) c.1048T>A (p.Cys350Ser) c.820T>A (p.Cys274Ser) | gnomAD v4 |
| 7 | g.107917343T>C | CA368858243 | DLD | c.1117T>C (p.Cys373Arg) c.*791T>C (n.*791T>C) c.973T>C (p.Cys325Arg) c.1048T>C (p.Cys350Arg) c.820T>C (p.Cys274Arg) | |
| 7 | g.107917343T>G | CA368858244 | DLD | c.1117T>G (p.Cys373Gly) c.*791T>G (n.*791T>G) c.973T>G (p.Cys325Gly) c.1048T>G (p.Cys350Gly) c.820T>G (p.Cys274Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917343T= | CA1732860036 | DLD | c.1117T= (p.Cys373=) c.*791T= (n.*791T=) c.973T= (p.Cys325=) c.1048T= (p.Cys350=) c.820T= (p.Cys274=) | |
| 7 | g.107917344G>A | CA368858246 | DLD | c.1118G>A (p.Cys373Tyr) c.*792G>A (n.*792G>A) c.974G>A (p.Cys325Tyr) c.1049G>A (p.Cys350Tyr) c.821G>A (p.Cys274Tyr) | dbSNP gnomAD v4 |
| 7 | g.107917344G>C | CA368858247 | DLD | c.1118G>C (p.Cys373Ser) c.*792G>C (n.*792G>C) c.974G>C (p.Cys325Ser) c.1049G>C (p.Cys350Ser) c.821G>C (p.Cys274Ser) | gnomAD v4 |
| 7 | g.107917344G= | CA1732860037 | DLD | c.1118G= (p.Cys373=) c.*792G= (n.*792G=) c.974G= (p.Cys325=) c.1049G= (p.Cys350=) c.821G= (p.Cys274=) | |
| 7 | g.107917344G>T | CA368858250 | DLD | c.1118G>T (p.Cys373Phe) c.*792G>T (n.*792G>T) c.974G>T (p.Cys325Phe) c.1049G>T (p.Cys350Phe) c.821G>T (p.Cys274Phe) | gnomAD v4 |
| 7 | g.107917345T>A | CA368858253 | DLD | c.1119T>A (p.Cys373Ter) c.*793T>A (n.*793T>A) c.975T>A (p.Cys325Ter) c.1050T>A (p.Cys350Ter) c.822T>A (p.Cys274Ter) | ClinVar dbSNP |
| 7 | g.107917345T>C | CA457109450 | DLD | c.1119T>C (p.Cys373=) c.*793T>C (n.*793T>C) c.975T>C (p.Cys325=) c.1050T>C (p.Cys350=) c.822T>C (p.Cys274=) | |
| 7 | g.107917345T>G | CA368858254 | DLD | c.1119T>G (p.Cys373Trp) c.*793T>G (n.*793T>G) c.975T>G (p.Cys325Trp) c.1050T>G (p.Cys350Trp) c.822T>G (p.Cys274Trp) | |
| 7 | g.107917345T= | CA1732860038 | DLD | c.1119T= (p.Cys373=) c.*793T= (n.*793T=) c.975T= (p.Cys325=) c.1050T= (p.Cys350=) c.822T= (p.Cys274=) | |
| 7 | g.107917346G>A | CA368858258 | DLD | c.1120G>A (p.Val374Ile) c.*794G>A (n.*794G>A) c.976G>A (p.Val326Ile) c.1051G>A (p.Val351Ile) c.823G>A (p.Val275Ile) | |
| 7 | g.107917346G>C | CA368858257 | DLD | c.1120G>C (p.Val374Leu) c.*794G>C (n.*794G>C) c.976G>C (p.Val326Leu) c.1051G>C (p.Val351Leu) c.823G>C (p.Val275Leu) | |
| 7 | g.107917346G>T | CA368858256 | DLD | c.1120G>T (p.Val374Phe) c.*794G>T (n.*794G>T) c.976G>T (p.Val326Phe) c.1051G>T (p.Val351Phe) c.823G>T (p.Val275Phe) | |
| 7 | g.107917347T>A | CA368858260 | DLD | c.1121T>A (p.Val374Asp) c.*795T>A (n.*795T>A) c.977T>A (p.Val326Asp) c.1052T>A (p.Val351Asp) c.824T>A (p.Val275Asp) | |
| 7 | g.107917347T>C | CA368858263 | DLD | c.1121T>C (p.Val374Ala) c.*795T>C (n.*795T>C) c.977T>C (p.Val326Ala) c.1052T>C (p.Val351Ala) c.824T>C (p.Val275Ala) | dbSNP |
| 7 | g.107917347T>G | CA368858262 | DLD | c.1121T>G (p.Val374Gly) c.*795T>G (n.*795T>G) c.977T>G (p.Val326Gly) c.1052T>G (p.Val351Gly) c.824T>G (p.Val275Gly) | |
| 7 | g.107917347T= | CA1732860039 | DLD | c.1121T= (p.Val374=) c.*795T= (n.*795T=) c.977T= (p.Val326=) c.1052T= (p.Val351=) c.824T= (p.Val275=) | |
| 7 | g.107917348T>A | CA457109456 | DLD | c.1122T>A (p.Val374=) c.*796T>A (n.*796T>A) c.978T>A (p.Val326=) c.1053T>A (p.Val351=) c.825T>A (p.Val275=) | |
| 7 | g.107917348T>C | CA457109459 | DLD | c.1122T>C (p.Val374=) c.*796T>C (n.*796T>C) c.978T>C (p.Val326=) c.1053T>C (p.Val351=) c.825T>C (p.Val275=) | |
| 7 | g.107917348T>G | CA457109461 | DLD | c.1122T>G (p.Val374=) c.*796T>G (n.*796T>G) c.978T>G (p.Val326=) c.1053T>G (p.Val351=) c.825T>G (p.Val275=) | |
| 7 | g.107917349G>A | CA256137 | DLD | c.1123G>A (p.Glu375Lys) c.*797G>A (n.*797G>A) c.979G>A (p.Glu327Lys) c.1054G>A (p.Glu352Lys) c.826G>A (p.Glu276Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917349G>C | CA368858265 | DLD | c.1123G>C (p.Glu375Gln) c.*797G>C (n.*797G>C) c.979G>C (p.Glu327Gln) c.1054G>C (p.Glu352Gln) c.826G>C (p.Glu276Gln) | |
| 7 | g.107917349G= | CA1732860040 | DLD | c.1123G= (p.Glu375=) c.*797G= (n.*797G=) c.979G= (p.Glu327=) c.1054G= (p.Glu352=) c.826G= (p.Glu276=) | |
| 7 | g.107917349G>T | CA368858267 | DLD | c.1123G>T (p.Glu375Ter) c.*797G>T (n.*797G>T) c.979G>T (p.Glu327Ter) c.1054G>T (p.Glu352Ter) c.826G>T (p.Glu276Ter) | |
| 7 | g.107917350A>C | CA368858269 | DLD | c.1124A>C (p.Glu375Ala) c.*798A>C (n.*798A>C) c.980A>C (p.Glu327Ala) c.1055A>C (p.Glu352Ala) c.827A>C (p.Glu276Ala) | |
| 7 | g.107917350A>G | CA368858270 | DLD | c.1124A>G (p.Glu375Gly) c.*798A>G (n.*798A>G) c.980A>G (p.Glu327Gly) c.1055A>G (p.Glu352Gly) c.827A>G (p.Glu276Gly) | |
| 7 | g.107917350A>T | CA368858272 | DLD | c.1124A>T (p.Glu375Val) c.*798A>T (n.*798A>T) c.980A>T (p.Glu327Val) c.1055A>T (p.Glu352Val) c.827A>T (p.Glu276Val) | |
| 7 | g.107917351A>C | CA368858273 | DLD | c.1125A>C (p.Glu375Asp) c.*799A>C (n.*799A>C) c.981A>C (p.Glu327Asp) c.1056A>C (p.Glu352Asp) c.828A>C (p.Glu276Asp) | |
| 7 | g.107917351A>G | CA457109462 | DLD | c.1125A>G (p.Glu375=) c.*799A>G (n.*799A>G) c.981A>G (p.Glu327=) c.1056A>G (p.Glu352=) c.828A>G (p.Glu276=) | |
| 7 | g.107917351A>T | CA368858275 | DLD | c.1125A>T (p.Glu375Asp) c.*799A>T (n.*799A>T) c.981A>T (p.Glu327Asp) c.1056A>T (p.Glu352Asp) c.828A>T (p.Glu276Asp) | |
| 7 | g.107917352G>A | CA368858277 | DLD | c.1126G>A (p.Gly376Arg) c.*800G>A (n.*800G>A) c.982G>A (p.Gly328Arg) c.1057G>A (p.Gly353Arg) c.829G>A (p.Gly277Arg) | |
| 7 | g.107917352G>C | CA368858279 | DLD | c.1126G>C (p.Gly376Arg) c.*800G>C (n.*800G>C) c.982G>C (p.Gly328Arg) c.1057G>C (p.Gly353Arg) c.829G>C (p.Gly277Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917352G= | CA1732860041 | DLD | c.1126G= (p.Gly376=) c.*800G= (n.*800G=) c.982G= (p.Gly328=) c.1057G= (p.Gly353=) c.829G= (p.Gly277=) | |
| 7 | g.107917352G>T | CA368858280 | DLD | c.1126G>T (p.Gly376Ter) c.*800G>T (n.*800G>T) c.982G>T (p.Gly328Ter) c.1057G>T (p.Gly353Ter) c.829G>T (p.Gly277Ter) | |
| 7 | g.107917353G>A | CA368858285 | DLD | c.1127G>A (p.Gly376Glu) c.*801G>A (n.*801G>A) c.983G>A (p.Gly328Glu) c.1058G>A (p.Gly353Glu) c.830G>A (p.Gly277Glu) | dbSNP |
| 7 | g.107917353G>C | CA368858284 | DLD | c.1127G>C (p.Gly376Ala) c.*801G>C (n.*801G>C) c.983G>C (p.Gly328Ala) c.1058G>C (p.Gly353Ala) c.830G>C (p.Gly277Ala) | |
| 7 | g.107917353G= | CA1732860042 | DLD | c.1127G= (p.Gly376=) c.*801G= (n.*801G=) c.983G= (p.Gly328=) c.1058G= (p.Gly353=) c.830G= (p.Gly277=) | |
| 7 | g.107917353G>T | CA368858282 | DLD | c.1127G>T (p.Gly376Val) c.*801G>T (n.*801G>T) c.983G>T (p.Gly328Val) c.1058G>T (p.Gly353Val) c.830G>T (p.Gly277Val) | |
| 7 | g.107917354A>C | CA457109463 | DLD | c.1128A>C (p.Gly376=) c.*802A>C (n.*802A>C) c.984A>C (p.Gly328=) c.1059A>C (p.Gly353=) c.831A>C (p.Gly277=) | |
| 7 | g.107917354A>G | CA457109464 | DLD | c.1128A>G (p.Gly376=) c.*802A>G (n.*802A>G) c.984A>G (p.Gly328=) c.1059A>G (p.Gly353=) c.831A>G (p.Gly277=) | |
| 7 | g.107917354A>T | CA457109465 | DLD | c.1128A>T (p.Gly376=) c.*802A>T (n.*802A>T) c.984A>T (p.Gly328=) c.1059A>T (p.Gly353=) c.831A>T (p.Gly277=) | |
| 7 | g.107917355A= | CA1732860043 | DLD | c.1129A= (p.Met377=) c.*803A= (n.*803A=) c.985A= (p.Met329=) c.1060A= (p.Met354=) c.832A= (p.Met278=) | |
| 7 | g.107917355A>C | CA368858287 | DLD | c.1129A>C (p.Met377Leu) c.*803A>C (n.*803A>C) c.985A>C (p.Met329Leu) c.1060A>C (p.Met354Leu) c.832A>C (p.Met278Leu) | |
| 7 | g.107917355A>G | CA164258401 | DLD | c.1129A>G (p.Met377Val) c.*803A>G (n.*803A>G) c.985A>G (p.Met329Val) c.1060A>G (p.Met354Val) c.832A>G (p.Met278Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917355A>T | CA368858289 | DLD | c.1129A>T (p.Met377Leu) c.*803A>T (n.*803A>T) c.985A>T (p.Met329Leu) c.1060A>T (p.Met354Leu) c.832A>T (p.Met278Leu) | |
| 7 | g.107917356T>A | CA368858291 | DLD | c.1130T>A (p.Met377Lys) c.*804T>A (n.*804T>A) c.986T>A (p.Met329Lys) c.1061T>A (p.Met354Lys) c.833T>A (p.Met278Lys) | |
| 7 | g.107917356T>C | CA368858292 | DLD | c.1130T>C (p.Met377Thr) c.*804T>C (n.*804T>C) c.986T>C (p.Met329Thr) c.1061T>C (p.Met354Thr) c.833T>C (p.Met278Thr) | |
| 7 | g.107917356T>G | CA368858293 | DLD | c.1130T>G (p.Met377Arg) c.*804T>G (n.*804T>G) c.986T>G (p.Met329Arg) c.1061T>G (p.Met354Arg) c.833T>G (p.Met278Arg) | |
| 7 | g.107917357G>A | CA368858295 | DLD | c.1131G>A (p.Met377Ile) c.*805G>A (n.*805G>A) c.987G>A (p.Met329Ile) c.1062G>A (p.Met354Ile) c.834G>A (p.Met278Ile) | dbSNP |
| 7 | g.107917357G>C | CA368858296 | DLD | c.1131G>C (p.Met377Ile) c.*805G>C (n.*805G>C) c.987G>C (p.Met329Ile) c.1062G>C (p.Met354Ile) c.834G>C (p.Met278Ile) | |
| 7 | g.107917357G= | CA1732860044 | DLD | c.1131G= (p.Met377=) c.*805G= (n.*805G=) c.987G= (p.Met329=) c.1062G= (p.Met354=) c.834G= (p.Met278=) | |
| 7 | g.107917357G>T | CA368858297 | DLD | c.1131G>T (p.Met377Ile) c.*805G>T (n.*805G>T) c.987G>T (p.Met329Ile) c.1062G>T (p.Met354Ile) c.834G>T (p.Met278Ile) |