Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.25809005C= | CA1159806118 | SELENON | c.646-90C= (n.646-90C=) c.646-21C= (n.646-21C=) c.748-21C= (n.748-21C=) | |
1 | g.25809005C>T | CA696626 | SELENON | c.646-90C>T (n.646-90C>T) c.646-21C>T (n.646-21C>T) c.748-21C>T (n.748-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
1 | g.25809006G>A | CA696627 | SELENON | c.646-89G>A (n.646-89G>A) c.646-20G>A (n.646-20G>A) c.748-20G>A (n.748-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809006G= | CA1159806119 | SELENON | c.646-89G= (n.646-89G=) c.646-20G= (n.646-20G=) c.748-20G= (n.748-20G=) | |
1 | g.25809006G>T | CA521738282 | SELENON | c.646-89G>T (n.646-89G>T) c.646-20G>T (n.646-20G>T) c.748-20G>T (n.748-20G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809007T>A | CA2574271268 | SELENON | c.646-88T>A (n.646-88T>A) c.646-19T>A (n.646-19T>A) c.748-19T>A (n.748-19T>A) | |
1 | g.25809007T>C | CA696628 | SELENON | c.646-88T>C (n.646-88T>C) c.646-19T>C (n.646-19T>C) c.748-19T>C (n.748-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809007T= | CA1159806120 | SELENON | c.646-88T= (n.646-88T=) c.646-19T= (n.646-19T=) c.748-19T= (n.748-19T=) | |
1 | g.25809008G>A | CA2644199755 | SELENON | c.646-87G>A (n.646-87G>A) c.646-18G>A (n.646-18G>A) c.748-18G>A (n.748-18G>A) | gnomAD v4 |
1 | g.25809012C= | CA1145107027 | SELENON | c.646-83C= (n.646-83C=) c.646-14C= (n.646-14C=) c.748-14C= (n.748-14C=) | |
1 | g.25809012C>T | CA696629 | SELENON | c.646-83C>T (n.646-83C>T) c.646-14C>T (n.646-14C>T) c.748-14C>T (n.748-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809014del | CA2573132210 | SELENON | c.646-81del (n.646-81del) c.646-12del (n.646-12del) c.748-12del (n.748-12del) | ClinVar dbSNP |
1 | g.25809013C>G | CA2644199756 | SELENON | c.646-82C>G (n.646-82C>G) c.646-13C>G (n.646-13C>G) c.748-13C>G (n.748-13C>G) | gnomAD v4 |
1 | g.25809014C= | CA1143328089 | SELENON | c.646-81C= (n.646-81C=) c.646-12C= (n.646-12C=) c.748-12C= (n.748-12C=) | |
1 | g.25809014C>T | CA696630 | SELENON | c.646-81C>T (n.646-81C>T) c.646-12C>T (n.646-12C>T) c.748-12C>T (n.748-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809015G>A | CA696631 | SELENON | c.646-80G>A (n.646-80G>A) c.646-11G>A (n.646-11G>A) c.748-11G>A (n.748-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809015G= | CA1159806121 | SELENON | c.646-80G= (n.646-80G=) c.646-11G= (n.646-11G=) c.748-11G= (n.748-11G=) | |
1 | g.25809016C= | CA1159806122 | SELENON | c.646-79C= (n.646-79C=) c.646-10C= (n.646-10C=) c.748-10C= (n.748-10C=) | |
1 | g.25809016C>T | CA696632 | SELENON | c.646-79C>T (n.646-79C>T) c.646-10C>T (n.646-10C>T) c.748-10C>T (n.748-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809017C>A | CA2574271269 | SELENON | c.646-78C>A (n.646-78C>A) c.646-9C>A (n.646-9C>A) c.748-9C>A (n.748-9C>A) | |
1 | g.25809017C= | CA1159806123 | SELENON | c.646-78C= (n.646-78C=) c.646-9C= (n.646-9C=) c.748-9C= (n.748-9C=) | |
1 | g.25809017C>T | CA696633 | SELENON | c.646-78C>T (n.646-78C>T) c.646-9C>T (n.646-9C>T) c.748-9C>T (n.748-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809018G>A | CA19698365 | SELENON | c.646-77G>A (n.646-77G>A) c.646-8G>A (n.646-8G>A) c.748-8G>A (n.748-8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809018G>C | CA2644199757 | SELENON | c.646-77G>C (n.646-77G>C) c.646-8G>C (n.646-8G>C) c.748-8G>C (n.748-8G>C) | gnomAD v4 |
1 | g.25809018G= | CA1145899418 | SELENON | c.646-77G= (n.646-77G=) c.646-8G= (n.646-8G=) c.748-8G= (n.748-8G=) | |
1 | g.25809019C>A | CA19698368 | SELENON | c.646-76C>A (n.646-76C>A) c.646-7C>A (n.646-7C>A) c.748-7C>A (n.748-7C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809019C= | CA1159806124 | SELENON | c.646-76C= (n.646-76C=) c.646-7C= (n.646-7C=) c.748-7C= (n.748-7C=) | |
1 | g.25809019C>T | CA696634 | SELENON | c.646-76C>T (n.646-76C>T) c.646-7C>T (n.646-7C>T) c.748-7C>T (n.748-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809020C= | CA1159806125 | SELENON | c.646-75C= (n.646-75C=) c.646-6C= (n.646-6C=) c.748-6C= (n.748-6C=) | |
1 | g.25809020C>T | CA521738288 | SELENON | c.646-75C>T (n.646-75C>T) c.646-6C>T (n.646-6C>T) c.748-6C>T (n.748-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809021_25809036delinsCCCAGGTCATCATCCA | CA1159806126 | SELENON | c.646-74_646-59delinsCCCAGGTCATCATCCA (n.646-74_646-59delinsCCCAGGTCATCATCCA) c.646-5_656delinsCCCAGGTCATCATCCA c.748-5_758delinsCCCAGGTCATCATCCA | |
1 | g.25809022C= | CA1159806127 | SELENON | c.646-73C= (n.646-73C=) c.646-4C= (n.646-4C=) c.748-4C= (n.748-4C=) | |
1 | g.25809022C>G | CA696636 | SELENON | c.646-73C>G (n.646-73C>G) c.646-4C>G (n.646-4C>G) c.748-4C>G (n.748-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809024_25809038del | CA696635 | SELENON | c.646-71_646-57del (n.646-71_646-57del) c.646-2_658del c.748-2_760del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809024A>C | CA339113275 | SELENON | c.646-71A>C (n.646-71A>C) c.646-2A>C (n.646-2A>C) c.748-2A>C (n.748-2A>C) | |
1 | g.25809024A>G | CA339113272 | SELENON | c.646-71A>G (n.646-71A>G) c.646-2A>G (n.646-2A>G) c.748-2A>G (n.748-2A>G) | |
1 | g.25809024A>T | CA339113271 | SELENON | c.646-71A>T (n.646-71A>T) c.646-2A>T (n.646-2A>T) c.748-2A>T (n.748-2A>T) | |
1 | g.25809025G>A | CA339113291 | SELENON | c.646-70G>A (n.646-70G>A) c.646-1G>A (n.646-1G>A) c.748-1G>A (n.748-1G>A) | |
1 | g.25809025G>C | CA339113295 | SELENON | c.646-70G>C (n.646-70G>C) c.646-1G>C (n.646-1G>C) c.748-1G>C (n.748-1G>C) | |
1 | g.25809025G= | CA1159806128 | SELENON | c.646-70G= (n.646-70G=) c.646-1G= (n.646-1G=) c.748-1G= (n.748-1G=) | |
1 | g.25809025G>T | CA339113302 | SELENON | c.646-70G>T (n.646-70G>T) c.646-1G>T (n.646-1G>T) c.748-1G>T (n.748-1G>T) | dbSNP gnomAD v4 |
1 | g.25809026G>A | CA339113307 | SELENON | c.646-69G>A (n.646-69G>A) c.646G>A (p.Val216Ile) c.748G>A (p.Val250Ile) | |
1 | g.25809026G>C | CA339113308 | SELENON | c.646-69G>C (n.646-69G>C) c.646G>C (p.Val216Leu) c.748G>C (p.Val250Leu) | |
1 | g.25809026G>T | CA339113311 | SELENON | c.646-69G>T (n.646-69G>T) c.646G>T (p.Val216Phe) c.748G>T (p.Val250Phe) | |
1 | g.25809027T>A | CA339113314 | SELENON | c.646-68T>A (n.646-68T>A) c.647T>A (p.Val216Asp) c.749T>A (p.Val250Asp) | |
1 | g.25809027T>C | CA339113317 | SELENON | c.646-68T>C (n.646-68T>C) c.647T>C (p.Val216Ala) c.749T>C (p.Val250Ala) | |
1 | g.25809027T>G | CA339113320 | SELENON | c.646-68T>G (n.646-68T>G) c.647T>G (p.Val216Gly) c.749T>G (p.Val250Gly) | |
1 | g.25809028C>A | CA416759035 | SELENON | c.646-67C>A (n.646-67C>A) c.648C>A (p.Val216=) c.750C>A (p.Val250=) | |
1 | g.25809028C>G | CA416759036 | SELENON | c.646-67C>G (n.646-67C>G) c.648C>G (p.Val216=) c.750C>G (p.Val250=) | |
1 | g.25809028C>T | CA416759037 | SELENON | c.646-67C>T (n.646-67C>T) c.648C>T (p.Val216=) c.750C>T (p.Val250=) | |
1 | g.25809029A>C | CA339113325 | SELENON | c.646-66A>C (n.646-66A>C) c.649A>C (p.Ile217Leu) c.751A>C (p.Ile251Leu) | |
1 | g.25809029A>G | CA339113331 | SELENON | c.646-66A>G (n.646-66A>G) c.649A>G (p.Ile217Val) c.751A>G (p.Ile251Val) | |
1 | g.25809029A>T | CA339113336 | SELENON | c.646-66A>T (n.646-66A>T) c.649A>T (p.Ile217Phe) c.751A>T (p.Ile251Phe) | |
1 | g.25809029_25809030dup | CA2644199759 | SELENON | c.646-66_646-65dup (n.646-66_646-65dup) c.649_650dup (p.Ile218SerfsTer6) c.751_752dup (p.Ile252SerfsTer6) | gnomAD v4 |
1 | g.25809030T>A | CA339113340 | SELENON | c.646-65T>A (n.646-65T>A) c.650T>A (p.Ile217Asn) c.752T>A (p.Ile251Asn) | |
1 | g.25809030T>C | CA339113338 | SELENON | c.646-65T>C (n.646-65T>C) c.650T>C (p.Ile217Thr) c.752T>C (p.Ile251Thr) | |
1 | g.25809030T>G | CA339113337 | SELENON | c.646-65T>G (n.646-65T>G) c.650T>G (p.Ile217Ser) c.752T>G (p.Ile251Ser) | |
1 | g.25809031C>A | CA416759038 | SELENON | c.646-64C>A (n.646-64C>A) c.651C>A (p.Ile217=) c.753C>A (p.Ile251=) | |
1 | g.25809031C>G | CA339113351 | SELENON | c.646-64C>G (n.646-64C>G) c.651C>G (p.Ile217Met) c.753C>G (p.Ile251Met) | |
1 | g.25809031C>T | CA416759039 | SELENON | c.646-64C>T (n.646-64C>T) c.651C>T (p.Ile217=) c.753C>T (p.Ile251=) | |
1 | g.25809032A>C | CA339113355 | SELENON | c.646-63A>C (n.646-63A>C) c.652A>C (p.Ile218Leu) c.754A>C (p.Ile252Leu) | |
1 | g.25809032A>G | CA339113357 | SELENON | c.646-63A>G (n.646-63A>G) c.652A>G (p.Ile218Val) c.754A>G (p.Ile252Val) | COSMIC |
1 | g.25809032A>T | CA339113361 | SELENON | c.646-63A>T (n.646-63A>T) c.652A>T (p.Ile218Phe) c.754A>T (p.Ile252Phe) | |
1 | g.25809033T>A | CA339113364 | SELENON | c.646-62T>A (n.646-62T>A) c.653T>A (p.Ile218Asn) c.755T>A (p.Ile252Asn) | |
1 | g.25809033T>C | CA339113367 | SELENON | c.646-62T>C (n.646-62T>C) c.653T>C (p.Ile218Thr) c.755T>C (p.Ile252Thr) | |
1 | g.25809033T>G | CA696637 | SELENON | c.646-62T>G (n.646-62T>G) c.653T>G (p.Ile218Ser) c.755T>G (p.Ile252Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809033T= | CA1141096141 | SELENON | c.646-62T= (n.646-62T=) c.653T= (p.Ile218=) c.755T= (p.Ile252=) | |
1 | g.25809034C>A | CA416759040 | SELENON | c.646-61C>A (n.646-61C>A) c.654C>A (p.Ile218=) c.756C>A (p.Ile252=) | |
1 | g.25809034C>G | CA339113368 | SELENON | c.646-61C>G (n.646-61C>G) c.654C>G (p.Ile218Met) c.756C>G (p.Ile252Met) | |
1 | g.25809034C>T | CA416759041 | SELENON | c.646-61C>T (n.646-61C>T) c.654C>T (p.Ile218=) c.756C>T (p.Ile252=) | gnomAD v4 |
1 | g.25809035C>A | CA339113373 | SELENON | c.646-60C>A (n.646-60C>A) c.655C>A (p.His219Asn) c.757C>A (p.His253Asn) | |
1 | g.25809035C>G | CA339113374 | SELENON | c.646-60C>G (n.646-60C>G) c.655C>G (p.His219Asp) c.757C>G (p.His253Asp) | |
1 | g.25809035C>T | CA339113378 | SELENON | c.646-60C>T (n.646-60C>T) c.655C>T (p.His219Tyr) c.757C>T (p.His253Tyr) | gnomAD v4 |
1 | g.25809036A>C | CA339113382 | SELENON | c.646-59A>C (n.646-59A>C) c.656A>C (p.His219Pro) c.758A>C (p.His253Pro) | |
1 | g.25809036A>G | CA339113385 | SELENON | c.646-59A>G (n.646-59A>G) c.656A>G (p.His219Arg) c.758A>G (p.His253Arg) | |
1 | g.25809036A>T | CA339113389 | SELENON | c.646-59A>T (n.646-59A>T) c.656A>T (p.His219Leu) c.758A>T (p.His253Leu) | |
1 | g.25809037C>A | CA696639 | SELENON | c.646-58C>A (n.646-58C>A) c.657C>A (p.His219Gln) c.759C>A (p.His253Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809037C= | CA1159806129 | SELENON | c.646-58C= (n.646-58C=) c.657C= (p.His219=) c.759C= (p.His253=) | |
1 | g.25809037C>G | CA339113397 | SELENON | c.646-58C>G (n.646-58C>G) c.657C>G (p.His219Gln) c.759C>G (p.His253Gln) | |
1 | g.25809037C>T | CA696638 | SELENON | c.646-58C>T (n.646-58C>T) c.657C>T (p.His219=) c.759C>T (p.His253=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.25809038C>A | CA416759042 | SELENON | c.646-57C>A (n.646-57C>A) c.658C>A (p.Arg220=) c.760C>A (p.Arg254=) | |
1 | g.25809038C= | CA1143977469 | SELENON | c.646-57C= (n.646-57C=) c.658C= (p.Arg220=) c.760C= (p.Arg254=) | |
1 | g.25809038C>G | CA696641 | SELENON | c.646-57C>G (n.646-57C>G) c.658C>G (p.Arg220Gly) c.760C>G (p.Arg254Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809038C>T | CA696640 | SELENON | c.646-57C>T (n.646-57C>T) c.658C>T (p.Arg220Trp) c.760C>T (p.Arg254Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.25809039G>A | CA696642 | SELENON | c.646-56G>A (n.646-56G>A) c.659G>A (p.Arg220Gln) c.761G>A (p.Arg254Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.25809039G>C | CA339113411 | SELENON | c.646-56G>C (n.646-56G>C) c.659G>C (p.Arg220Pro) c.761G>C (p.Arg254Pro) | ClinVar dbSNP |
1 | g.25809039G= | CA1159806130 | SELENON | c.646-56G= (n.646-56G=) c.659G= (p.Arg220=) c.761G= (p.Arg254=) | |
1 | g.25809039G>T | CA339113416 | SELENON | c.646-56G>T (n.646-56G>T) c.659G>T (p.Arg220Leu) c.761G>T (p.Arg254Leu) | gnomAD v4 |
1 | g.25809040del | CA2644199761 | SELENON | c.646-55del (n.646-55del) c.660del (p.Leu221SerfsTer2) c.762del (p.Leu255SerfsTer2) | gnomAD v4 |
1 | g.25809040G>A | CA416759043 | SELENON | c.646-55G>A (n.646-55G>A) c.660G>A (p.Arg220=) c.762G>A (p.Arg254=) | |
1 | g.25809040G>C | CA416759044 | SELENON | c.646-55G>C (n.646-55G>C) c.660G>C (p.Arg220=) c.762G>C (p.Arg254=) | |
1 | g.25809040G>T | CA416759045 | SELENON | c.646-55G>T (n.646-55G>T) c.660G>T (p.Arg220=) c.762G>T (p.Arg254=) | |
1 | g.25809041_25809052dup | CA1159806131 | SELENON | c.646-54_646-43dup (n.646-54_646-43dup) c.661_672dup (p.Met224_Phe225insLeuLeuSerMet) c.763_774dup (p.Met258_Phe259insLeuLeuSerMet) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.25809041C>A | CA339113422 | SELENON | c.646-54C>A (n.646-54C>A) c.661C>A (p.Leu221Ile) c.763C>A (p.Leu255Ile) | |
1 | g.25809041C>G | CA339113425 | SELENON | c.646-54C>G (n.646-54C>G) c.661C>G (p.Leu221Val) c.763C>G (p.Leu255Val) | |
1 | g.25809041C>T | CA339113429 | SELENON | c.646-54C>T (n.646-54C>T) c.661C>T (p.Leu221Phe) c.763C>T (p.Leu255Phe) | |
1 | g.25809042T>A | CA339113433 | SELENON | c.646-53T>A (n.646-53T>A) c.662T>A (p.Leu221His) c.764T>A (p.Leu255His) | |
1 | g.25809042T>C | CA339113434 | SELENON | c.646-53T>C (n.646-53T>C) c.662T>C (p.Leu221Pro) c.764T>C (p.Leu255Pro) | |
1 | g.25809042T>G | CA339113435 | SELENON | c.646-53T>G (n.646-53T>G) c.662T>G (p.Leu221Arg) c.764T>G (p.Leu255Arg) | |
1 | g.25809043C>A | CA416759046 | SELENON | c.646-52C>A (n.646-52C>A) c.663C>A (p.Leu221=) c.765C>A (p.Leu255=) | |
1 | g.25809043C= | CA1159806132 | SELENON | c.646-52C= (n.646-52C=) c.663C= (p.Leu221=) c.765C= (p.Leu255=) | |
1 | g.25809043C>G | CA416759048 | SELENON | c.646-52C>G (n.646-52C>G) c.663C>G (p.Leu221=) c.765C>G (p.Leu255=) | |
1 | g.25809043C>T | CA416759047 | SELENON | c.646-52C>T (n.646-52C>T) c.663C>T (p.Leu221=) c.765C>T (p.Leu255=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809044C>A | CA339113436 | SELENON | c.646-51C>A (n.646-51C>A) c.664C>A (p.Leu222Met) c.766C>A (p.Leu256Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809044C= | CA1159806133 | SELENON | c.646-51C= (n.646-51C=) c.664C= (p.Leu222=) c.766C= (p.Leu256=) | |
1 | g.25809044C>G | CA339113438 | SELENON | c.646-51C>G (n.646-51C>G) c.664C>G (p.Leu222Val) c.766C>G (p.Leu256Val) | |
1 | g.25809044C>T | CA416759049 | SELENON | c.646-51C>T (n.646-51C>T) c.664C>T (p.Leu222=) c.766C>T (p.Leu256=) | gnomAD v4 |
1 | g.25809045T>A | CA339113440 | SELENON | c.646-50T>A (n.646-50T>A) c.665T>A (p.Leu222Gln) c.767T>A (p.Leu256Gln) | |
1 | g.25809045T>C | CA339113446 | SELENON | c.646-50T>C (n.646-50T>C) c.665T>C (p.Leu222Pro) c.767T>C (p.Leu256Pro) | gnomAD v4 |
1 | g.25809045T>G | CA339113442 | SELENON | c.646-50T>G (n.646-50T>G) c.665T>G (p.Leu222Arg) c.767T>G (p.Leu256Arg) | |
1 | g.25809046G>A | CA416759050 | SELENON | c.646-49G>A (n.646-49G>A) c.666G>A (p.Leu222=) c.768G>A (p.Leu256=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809046G>C | CA416759051 | SELENON | c.646-49G>C (n.646-49G>C) c.666G>C (p.Leu222=) c.768G>C (p.Leu256=) | |
1 | g.25809046G= | CA1159806134 | SELENON | c.646-49G= (n.646-49G=) c.666G= (p.Leu222=) c.768G= (p.Leu256=) | |
1 | g.25809046G>T | CA416759052 | SELENON | c.646-49G>T (n.646-49G>T) c.666G>T (p.Leu222=) c.768G>T (p.Leu256=) | |
1 | g.25809047A>C | CA339113463 | SELENON | c.646-48A>C (n.646-48A>C) c.667A>C (p.Ser223Arg) c.769A>C (p.Ser257Arg) | gnomAD v4 |
1 | g.25809047A>G | CA339113472 | SELENON | c.646-48A>G (n.646-48A>G) c.667A>G (p.Ser223Gly) c.769A>G (p.Ser257Gly) | |
1 | g.25809047A>T | CA339113465 | SELENON | c.646-48A>T (n.646-48A>T) c.667A>T (p.Ser223Cys) c.769A>T (p.Ser257Cys) | |
1 | g.25809048G>A | CA339113478 | SELENON | c.646-47G>A (n.646-47G>A) c.668G>A (p.Ser223Asn) c.770G>A (p.Ser257Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809048G>C | CA339113481 | SELENON | c.646-47G>C (n.646-47G>C) c.668G>C (p.Ser223Thr) c.770G>C (p.Ser257Thr) | |
1 | g.25809048G= | CA1159806135 | SELENON | c.646-47G= (n.646-47G=) c.668G= (p.Ser223=) c.770G= (p.Ser257=) | |
1 | g.25809048G>T | CA339113486 | SELENON | c.646-47G>T (n.646-47G>T) c.668G>T (p.Ser223Ile) c.770G>T (p.Ser257Ile) | |
1 | g.25809049C>A | CA339113487 | SELENON | c.646-46C>A (n.646-46C>A) c.669C>A (p.Ser223Arg) c.771C>A (p.Ser257Arg) | |
1 | g.25809049C>G | CA339113491 | SELENON | c.646-46C>G (n.646-46C>G) c.669C>G (p.Ser223Arg) c.771C>G (p.Ser257Arg) | |
1 | g.25809049C>T | CA416759053 | SELENON | c.646-46C>T (n.646-46C>T) c.669C>T (p.Ser223=) c.771C>T (p.Ser257=) | |
1 | g.25809049dup | CA2832528843 | SELENON | c.646-46dup (n.646-46dup) c.669dup (p.Met224HisfsTer?) c.771dup (p.Met258HisfsTer?) | |
1 | g.25809050A>C | CA339113502 | SELENON | c.646-45A>C (n.646-45A>C) c.670A>C (p.Met224Leu) c.772A>C (p.Met258Leu) | gnomAD v4 |
1 | g.25809050A>G | CA339113501 | SELENON | c.646-45A>G (n.646-45A>G) c.670A>G (p.Met224Val) c.772A>G (p.Met258Val) | gnomAD v4 |
1 | g.25809050A>T | CA339113498 | SELENON | c.646-45A>T (n.646-45A>T) c.670A>T (p.Met224Leu) c.772A>T (p.Met258Leu) | |
1 | g.25809051del | CA2580062604 | SELENON | c.646-44del (n.646-44del) c.671del (p.Met224SerfsTer8) c.773del (p.Met258SerfsTer8) | ClinVar |
1 | g.25809051T>A | CA339113503 | SELENON | c.646-44T>A (n.646-44T>A) c.671T>A (p.Met224Lys) c.773T>A (p.Met258Lys) | |
1 | g.25809051T>C | CA339113504 | SELENON | c.646-44T>C (n.646-44T>C) c.671T>C (p.Met224Thr) c.773T>C (p.Met258Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809051T>G | CA339113506 | SELENON | c.646-44T>G (n.646-44T>G) c.671T>G (p.Met224Arg) c.773T>G (p.Met258Arg) | dbSNP gnomAD v4 |
1 | g.25809051T= | CA1159806136 | SELENON | c.646-44T= (n.646-44T=) c.671T= (p.Met224=) c.773T= (p.Met258=) | |
1 | g.25809052G>A | CA339113512 | SELENON | c.646-43G>A (n.646-43G>A) c.672G>A (p.Met224Ile) c.774G>A (p.Met258Ile) | |
1 | g.25809052G>C | CA339113517 | SELENON | c.646-43G>C (n.646-43G>C) c.672G>C (p.Met224Ile) c.774G>C (p.Met258Ile) | |
1 | g.25809052G= | CA1159806137 | SELENON | c.646-43G= (n.646-43G=) c.672G= (p.Met224=) c.774G= (p.Met258=) | |
1 | g.25809052G>T | CA19698381 | SELENON | c.646-43G>T (n.646-43G>T) c.672G>T (p.Met224Ile) c.774G>T (p.Met258Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809053T>A | CA339113526 | SELENON | c.646-42T>A (n.646-42T>A) c.673T>A (p.Phe225Ile) c.775T>A (p.Phe259Ile) | |
1 | g.25809053T>C | CA339113531 | SELENON | c.646-42T>C (n.646-42T>C) c.673T>C (p.Phe225Leu) c.775T>C (p.Phe259Leu) | |
1 | g.25809053T>G | CA339113529 | SELENON | c.646-42T>G (n.646-42T>G) c.673T>G (p.Phe225Val) c.775T>G (p.Phe259Val) | |
1 | g.25809054T>A | CA339113537 | SELENON | c.646-41T>A (n.646-41T>A) c.674T>A (p.Phe225Tyr) c.776T>A (p.Phe259Tyr) | |
1 | g.25809054T>C | CA339113538 | SELENON | c.646-41T>C (n.646-41T>C) c.674T>C (p.Phe225Ser) c.776T>C (p.Phe259Ser) | |
1 | g.25809054T>G | CA339113541 | SELENON | c.646-41T>G (n.646-41T>G) c.674T>G (p.Phe225Cys) c.776T>G (p.Phe259Cys) | |
1 | g.25809055C>A | CA339113545 | SELENON | c.646-40C>A (n.646-40C>A) c.675C>A (p.Phe225Leu) c.777C>A (p.Phe259Leu) | |
1 | g.25809055C= | CA1159806138 | SELENON | c.646-40C= (n.646-40C=) c.675C= (p.Phe225=) c.777C= (p.Phe259=) | |
1 | g.25809055C>G | CA339113549 | SELENON | c.646-40C>G (n.646-40C>G) c.675C>G (p.Phe225Leu) c.777C>G (p.Phe259Leu) | dbSNP |
1 | g.25809055C>T | CA416759054 | SELENON | c.646-40C>T (n.646-40C>T) c.675C>T (p.Phe225=) c.777C>T (p.Phe259=) | |
1 | g.25809056C>A | CA339113554 | SELENON | c.646-39C>A (n.646-39C>A) c.676C>A (p.His226Asn) c.778C>A (p.His260Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809056C= | CA1159806139 | SELENON | c.646-39C= (n.646-39C=) c.676C= (p.His226=) c.778C= (p.His260=) | |
1 | g.25809056C>G | CA339113557 | SELENON | c.646-39C>G (n.646-39C>G) c.676C>G (p.His226Asp) c.778C>G (p.His260Asp) | |
1 | g.25809056C>T | CA339113560 | SELENON | c.646-39C>T (n.646-39C>T) c.676C>T (p.His226Tyr) c.778C>T (p.His260Tyr) | gnomAD v4 |
1 | g.25809057A>C | CA339113563 | SELENON | c.646-38A>C (n.646-38A>C) c.677A>C (p.His226Pro) c.779A>C (p.His260Pro) | |
1 | g.25809057A>G | CA339113566 | SELENON | c.646-38A>G (n.646-38A>G) c.677A>G (p.His226Arg) c.779A>G (p.His260Arg) | COSMIC |
1 | g.25809057A>T | CA339113568 | SELENON | c.646-38A>T (n.646-38A>T) c.677A>T (p.His226Leu) c.779A>T (p.His260Leu) | |
1 | g.25809058C>A | CA339113573 | SELENON | c.646-37C>A (n.646-37C>A) c.678C>A (p.His226Gln) c.780C>A (p.His260Gln) | |
1 | g.25809058C>G | CA339113576 | SELENON | c.646-37C>G (n.646-37C>G) c.678C>G (p.His226Gln) c.780C>G (p.His260Gln) | |
1 | g.25809058C>T | CA416759055 | SELENON | c.646-37C>T (n.646-37C>T) c.678C>T (p.His226=) c.780C>T (p.His260=) | |
1 | g.25809059C>A | CA339113582 | SELENON | c.646-36C>A (n.646-36C>A) c.679C>A (p.Pro227Thr) c.781C>A (p.Pro261Thr) | |
1 | g.25809059C= | CA1159806140 | SELENON | c.646-36C= (n.646-36C=) c.679C= (p.Pro227=) c.781C= (p.Pro261=) | |
1 | g.25809059C>G | CA339113585 | SELENON | c.646-36C>G (n.646-36C>G) c.679C>G (p.Pro227Ala) c.781C>G (p.Pro261Ala) | |
1 | g.25809059C>T | CA339113586 | SELENON | c.646-36C>T (n.646-36C>T) c.679C>T (p.Pro227Ser) c.781C>T (p.Pro261Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809060C>A | CA339113590 | SELENON | c.646-35C>A (n.646-35C>A) c.680C>A (p.Pro227His) c.782C>A (p.Pro261His) | |
1 | g.25809060C>G | CA339113591 | SELENON | c.646-35C>G (n.646-35C>G) c.680C>G (p.Pro227Arg) c.782C>G (p.Pro261Arg) | |
1 | g.25809060C>T | CA339113600 | SELENON | c.646-35C>T (n.646-35C>T) c.680C>T (p.Pro227Leu) c.782C>T (p.Pro261Leu) | |
1 | g.25809061T>A | CA416759056 | SELENON | c.646-34T>A (n.646-34T>A) c.681T>A (p.Pro227=) c.783T>A (p.Pro261=) | |
1 | g.25809061T>C | CA416759057 | SELENON | c.646-34T>C (n.646-34T>C) c.681T>C (p.Pro227=) c.783T>C (p.Pro261=) | |
1 | g.25809061T>G | CA416759058 | SELENON | c.646-34T>G (n.646-34T>G) c.681T>G (p.Pro227=) c.783T>G (p.Pro261=) | |
1 | g.25809062C>A | CA416759059 | SELENON | c.646-33C>A (n.646-33C>A) c.682C>A (p.Arg228=) c.784C>A (p.Arg262=) | dbSNP |
1 | g.25809062C= | CA1148427826 | SELENON | c.646-33C= (n.646-33C=) c.682C= (p.Arg228=) c.784C= (p.Arg262=) | |
1 | g.25809062C>G | CA339113619 | SELENON | c.646-33C>G (n.646-33C>G) c.682C>G (p.Arg228Gly) c.784C>G (p.Arg262Gly) | ClinVar gnomAD v4 |
1 | g.25809062C>T | CA696643 | SELENON | c.646-33C>T (n.646-33C>T) c.682C>T (p.Arg228Trp) c.784C>T (p.Arg262Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809063G>A | CA696644 | SELENON | c.646-32G>A (n.646-32G>A) c.683G>A (p.Arg228Gln) c.785G>A (p.Arg262Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809063G>C | CA339113620 | SELENON | c.646-32G>C (n.646-32G>C) c.683G>C (p.Arg228Pro) c.785G>C (p.Arg262Pro) | gnomAD v4 |
1 | g.25809063G= | CA1159806141 | SELENON | c.646-32G= (n.646-32G=) c.683G= (p.Arg228=) c.785G= (p.Arg262=) | |
1 | g.25809063G>T | CA339113621 | SELENON | c.646-32G>T (n.646-32G>T) c.683G>T (p.Arg228Leu) c.785G>T (p.Arg262Leu) | |
1 | g.25809064G>A | CA416759060 | SELENON | c.646-31G>A (n.646-31G>A) c.684G>A (p.Arg228=) c.786G>A (p.Arg262=) | gnomAD v4 |
1 | g.25809064G>C | CA416759062 | SELENON | c.646-31G>C (n.646-31G>C) c.684G>C (p.Arg228=) c.786G>C (p.Arg262=) | |
1 | g.25809064G>T | CA416759061 | SELENON | c.646-31G>T (n.646-31G>T) c.684G>T (p.Arg228=) c.786G>T (p.Arg262=) | |
1 | g.25809065C>A | CA339113624 | SELENON | c.646-30C>A (n.646-30C>A) c.685C>A (p.Pro229Thr) c.787C>A (p.Pro263Thr) | |
1 | g.25809065C>G | CA339113628 | SELENON | c.646-30C>G (n.646-30C>G) c.685C>G (p.Pro229Ala) c.787C>G (p.Pro263Ala) | |
1 | g.25809065C>T | CA339113630 | SELENON | c.646-30C>T (n.646-30C>T) c.685C>T (p.Pro229Ser) c.787C>T (p.Pro263Ser) | |
1 | g.25809066C>A | CA339113632 | SELENON | c.646-29C>A (n.646-29C>A) c.686C>A (p.Pro229His) c.788C>A (p.Pro263His) | |
1 | g.25809066C>G | CA339113639 | SELENON | c.646-29C>G (n.646-29C>G) c.686C>G (p.Pro229Arg) c.788C>G (p.Pro263Arg) | |
1 | g.25809066C>T | CA339113636 | SELENON | c.646-29C>T (n.646-29C>T) c.686C>T (p.Pro229Leu) c.788C>T (p.Pro263Leu) | |
1 | g.25809067C>A | CA416759063 | SELENON | c.646-28C>A (n.646-28C>A) c.687C>A (p.Pro229=) c.789C>A (p.Pro263=) | |
1 | g.25809067C>G | CA416759064 | SELENON | c.646-28C>G (n.646-28C>G) c.687C>G (p.Pro229=) c.789C>G (p.Pro263=) | |
1 | g.25809067C>T | CA416759065 | SELENON | c.646-28C>T (n.646-28C>T) c.687C>T (p.Pro229=) c.789C>T (p.Pro263=) | |
1 | g.25809068T>A | CA339113643 | SELENON | c.646-27T>A (n.646-27T>A) c.688T>A (p.Phe230Ile) c.790T>A (p.Phe264Ile) | gnomAD v4 |
1 | g.25809068T>C | CA339113645 | SELENON | c.646-27T>C (n.646-27T>C) c.688T>C (p.Phe230Leu) c.790T>C (p.Phe264Leu) | |
1 | g.25809068T>G | CA339113651 | SELENON | c.646-27T>G (n.646-27T>G) c.688T>G (p.Phe230Val) c.790T>G (p.Phe264Val) | |
1 | g.25809069T>A | CA339113656 | SELENON | c.646-26T>A (n.646-26T>A) c.689T>A (p.Phe230Tyr) c.791T>A (p.Phe264Tyr) | |
1 | g.25809069T>C | CA339113660 | SELENON | c.646-26T>C (n.646-26T>C) c.689T>C (p.Phe230Ser) c.791T>C (p.Phe264Ser) | dbSNP gnomAD v4 |
1 | g.25809069T>G | CA339113668 | SELENON | c.646-26T>G (n.646-26T>G) c.689T>G (p.Phe230Cys) c.791T>G (p.Phe264Cys) | |
1 | g.25809069T= | CA1159806142 | SELENON | c.646-26T= (n.646-26T=) c.689T= (p.Phe230=) c.791T= (p.Phe264=) | |
1 | g.25809070T>A | CA339113674 | SELENON | c.646-25T>A (n.646-25T>A) c.690T>A (p.Phe230Leu) c.792T>A (p.Phe264Leu) | |
1 | g.25809070T>C | CA416759066 | SELENON | c.646-25T>C (n.646-25T>C) c.690T>C (p.Phe230=) c.792T>C (p.Phe264=) | |
1 | g.25809070T>G | CA339113677 | SELENON | c.646-25T>G (n.646-25T>G) c.690T>G (p.Phe230Leu) c.792T>G (p.Phe264Leu) | |
1 | g.25809071G>A | CA339113681 | SELENON | c.646-24G>A (n.646-24G>A) c.691G>A (p.Val231Met) c.793G>A (p.Val265Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.25809071G>C | CA339113684 | SELENON | c.646-24G>C (n.646-24G>C) c.691G>C (p.Val231Leu) c.793G>C (p.Val265Leu) | |
1 | g.25809071G= | CA1159806143 | SELENON | c.646-24G= (n.646-24G=) c.691G= (p.Val231=) c.793G= (p.Val265=) | |
1 | g.25809071G>T | CA339113690 | SELENON | c.646-24G>T (n.646-24G>T) c.691G>T (p.Val231Leu) c.793G>T (p.Val265Leu) | |
1 | g.25809072T>A | CA696645 | SELENON | c.646-23T>A (n.646-23T>A) c.692T>A (p.Val231Glu) c.794T>A (p.Val265Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809072T>C | CA339113702 | SELENON | c.646-23T>C (n.646-23T>C) c.692T>C (p.Val231Ala) c.794T>C (p.Val265Ala) | |
1 | g.25809072T>G | CA339113698 | SELENON | c.646-23T>G (n.646-23T>G) c.692T>G (p.Val231Gly) c.794T>G (p.Val265Gly) | |
1 | g.25809072T= | CA1159806144 | SELENON | c.646-23T= (n.646-23T=) c.692T= (p.Val231=) c.794T= (p.Val265=) | |
1 | g.25809073G>A | CA416759067 | SELENON | c.646-22G>A (n.646-22G>A) c.693G>A (p.Val231=) c.795G>A (p.Val265=) | ClinVar |
1 | g.25809073G>C | CA416759068 | SELENON | c.646-22G>C (n.646-22G>C) c.693G>C (p.Val231=) c.795G>C (p.Val265=) | |
1 | g.25809073G>T | CA416759069 | SELENON | c.646-22G>T (n.646-22G>T) c.693G>T (p.Val231=) c.795G>T (p.Val265=) | |
1 | g.25809074A>C | CA339113706 | SELENON | c.646-21A>C (n.646-21A>C) c.694A>C (p.Lys232Gln) c.796A>C (p.Lys266Gln) | |
1 | g.25809074A>G | CA339113712 | SELENON | c.646-21A>G (n.646-21A>G) c.694A>G (p.Lys232Glu) c.796A>G (p.Lys266Glu) | |
1 | g.25809074A>T | CA339113709 | SELENON | c.646-21A>T (n.646-21A>T) c.694A>T (p.Lys232Ter) c.796A>T (p.Lys266Ter) | |
1 | g.25809075A>C | CA339113714 | SELENON | c.646-20A>C (n.646-20A>C) c.695A>C (p.Lys232Thr) c.797A>C (p.Lys266Thr) | |
1 | g.25809075A>G | CA339113716 | SELENON | c.646-20A>G (n.646-20A>G) c.695A>G (p.Lys232Arg) c.797A>G (p.Lys266Arg) | |
1 | g.25809075A>T | CA339113719 | SELENON | c.646-20A>T (n.646-20A>T) c.695A>T (p.Lys232Met) c.797A>T (p.Lys266Met) | |
1 | g.25809076G>A | CA416759070 | SELENON | c.646-19G>A (n.646-19G>A) c.696G>A (p.Lys232=) c.798G>A (p.Lys266=) | |
1 | g.25809076G>C | CA339113723 | SELENON | c.646-19G>C (n.646-19G>C) c.696G>C (p.Lys232Asn) c.798G>C (p.Lys266Asn) | |
1 | g.25809076G>T | CA339113724 | SELENON | c.646-19G>T (n.646-19G>T) c.696G>T (p.Lys232Asn) c.798G>T (p.Lys266Asn) | |
1 | g.25809077A>C | CA339113727 | SELENON | c.646-18A>C (n.646-18A>C) c.697A>C (p.Thr233Pro) c.799A>C (p.Thr267Pro) | |
1 | g.25809077A>G | CA339113730 | SELENON | c.646-18A>G (n.646-18A>G) c.697A>G (p.Thr233Ala) c.799A>G (p.Thr267Ala) | |
1 | g.25809077A>T | CA339113731 | SELENON | c.646-18A>T (n.646-18A>T) c.697A>T (p.Thr233Ser) c.799A>T (p.Thr267Ser) | |
1 | g.25809078C>A | CA339113735 | SELENON | c.646-17C>A (n.646-17C>A) c.698C>A (p.Thr233Asn) c.800C>A (p.Thr267Asn) | |
1 | g.25809078C>G | CA339113738 | SELENON | c.646-17C>G (n.646-17C>G) c.698C>G (p.Thr233Ser) c.800C>G (p.Thr267Ser) | |
1 | g.25809078C>T | CA339113740 | SELENON | c.646-17C>T (n.646-17C>T) c.698C>T (p.Thr233Ile) c.800C>T (p.Thr267Ile) | |
1 | g.25809079C>A | CA416759071 | SELENON | c.646-16C>A (n.646-16C>A) c.699C>A (p.Thr233=) c.801C>A (p.Thr267=) | |
1 | g.25809079C>G | CA416759072 | SELENON | c.646-16C>G (n.646-16C>G) c.699C>G (p.Thr233=) c.801C>G (p.Thr267=) | COSMIC |
1 | g.25809079C>T | CA416759073 | SELENON | c.646-16C>T (n.646-16C>T) c.699C>T (p.Thr233=) c.801C>T (p.Thr267=) | |
1 | g.25809080C>A | CA339113750 | SELENON | c.646-15C>A (n.646-15C>A) c.700C>A (p.Arg234Ser) c.802C>A (p.Arg268Ser) | |
1 | g.25809080C= | CA1143573366 | SELENON | c.646-15C= (n.646-15C=) c.700C= (p.Arg234=) c.802C= (p.Arg268=) | |
1 | g.25809080C>G | CA339113746 | SELENON | c.646-15C>G (n.646-15C>G) c.700C>G (p.Arg234Gly) c.802C>G (p.Arg268Gly) | |
1 | g.25809080C>T | CA696646 | SELENON | c.646-15C>T (n.646-15C>T) c.700C>T (p.Arg234Cys) c.802C>T (p.Arg268Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809081G>A | CA339113753 | SELENON | c.646-14G>A (n.646-14G>A) c.701G>A (p.Arg234His) c.803G>A (p.Arg268His) | dbSNP gnomAD v4 COSMIC |
1 | g.25809081G>C | CA339113756 | SELENON | c.646-14G>C (n.646-14G>C) c.701G>C (p.Arg234Pro) c.803G>C (p.Arg268Pro) | |
1 | g.25809081G= | CA1159806145 | SELENON | c.646-14G= (n.646-14G=) c.701G= (p.Arg234=) c.803G= (p.Arg268=) | |
1 | g.25809081G>T | CA339113760 | SELENON | c.646-14G>T (n.646-14G>T) c.701G>T (p.Arg234Leu) c.803G>T (p.Arg268Leu) | COSMIC |
1 | g.25809082C>A | CA416759074 | SELENON | c.646-13C>A (n.646-13C>A) c.702C>A (p.Arg234=) c.804C>A (p.Arg268=) | |
1 | g.25809082C>G | CA416759075 | SELENON | c.646-13C>G (n.646-13C>G) c.702C>G (p.Arg234=) c.804C>G (p.Arg268=) | |
1 | g.25809082C>T | CA416759076 | SELENON | c.646-13C>T (n.646-13C>T) c.702C>T (p.Arg234=) c.804C>T (p.Arg268=) | |
1 | g.25809083T>A | CA339113763 | SELENON | c.646-12T>A (n.646-12T>A) c.703T>A (p.Phe235Ile) c.805T>A (p.Phe269Ile) | |
1 | g.25809083T>C | CA339113770 | SELENON | c.646-12T>C (n.646-12T>C) c.703T>C (p.Phe235Leu) c.805T>C (p.Phe269Leu) | dbSNP gnomAD v2 |
1 | g.25809083T>G | CA339113771 | SELENON | c.646-12T>G (n.646-12T>G) c.703T>G (p.Phe235Val) c.805T>G (p.Phe269Val) | |
1 | g.25809083T= | CA1159806146 | SELENON | c.646-12T= (n.646-12T=) c.703T= (p.Phe235=) c.805T= (p.Phe269=) | |
1 | g.25809084T>A | CA339113774 | SELENON | c.646-11T>A (n.646-11T>A) c.704T>A (p.Phe235Tyr) c.806T>A (p.Phe269Tyr) | |
1 | g.25809084T>C | CA339113778 | SELENON | c.646-11T>C (n.646-11T>C) c.704T>C (p.Phe235Ser) c.806T>C (p.Phe269Ser) | |
1 | g.25809084T>G | CA339113783 | SELENON | c.646-11T>G (n.646-11T>G) c.704T>G (p.Phe235Cys) c.806T>G (p.Phe269Cys) | |
1 | g.25809085T>A | CA339113786 | SELENON | c.646-10T>A (n.646-10T>A) c.705T>A (p.Phe235Leu) c.807T>A (p.Phe269Leu) | |
1 | g.25809085T>C | CA416759077 | SELENON | c.646-10T>C (n.646-10T>C) c.705T>C (p.Phe235=) c.807T>C (p.Phe269=) | |
1 | g.25809085T>G | CA339113788 | SELENON | c.646-10T>G (n.646-10T>G) c.705T>G (p.Phe235Leu) c.807T>G (p.Phe269Leu) | |
1 | g.25809086G>A | CA696647 | SELENON | c.646-9G>A (n.646-9G>A) c.706G>A (p.Ala236Thr) c.808G>A (p.Ala270Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809086G>C | CA339113791 | SELENON | c.646-9G>C (n.646-9G>C) c.706G>C (p.Ala236Pro) c.808G>C (p.Ala270Pro) | |
1 | g.25809086G= | CA1159806147 | SELENON | c.646-9G= (n.646-9G=) c.706G= (p.Ala236=) c.808G= (p.Ala270=) | |
1 | g.25809086G>T | CA339113789 | SELENON | c.646-9G>T (n.646-9G>T) c.706G>T (p.Ala236Ser) c.808G>T (p.Ala270Ser) | |
1 | g.25809087C>A | CA339113797 | SELENON | c.646-8C>A (n.646-8C>A) c.707C>A (p.Ala236Asp) c.809C>A (p.Ala270Asp) | |
1 | g.25809087C>G | CA339113803 | SELENON | c.646-8C>G (n.646-8C>G) c.707C>G (p.Ala236Gly) c.809C>G (p.Ala270Gly) | |
1 | g.25809087C>T | CA339113805 | SELENON | c.646-8C>T (n.646-8C>T) c.707C>T (p.Ala236Val) c.809C>T (p.Ala270Val) | gnomAD v4 |
1 | g.25809088C>A | CA416759080 | SELENON | c.646-7C>A (n.646-7C>A) c.708C>A (p.Ala236=) c.810C>A (p.Ala270=) | |
1 | g.25809088C>G | CA416759079 | SELENON | c.646-7C>G (n.646-7C>G) c.708C>G (p.Ala236=) c.810C>G (p.Ala270=) | gnomAD v4 |
1 | g.25809088C>T | CA416759078 | SELENON | c.646-7C>T (n.646-7C>T) c.708C>T (p.Ala236=) c.810C>T (p.Ala270=) | COSMIC |
1 | g.25809089C>A | CA339113809 | SELENON | c.646-6C>A (n.646-6C>A) c.709C>A (p.Pro237Thr) c.811C>A (p.Pro271Thr) | |
1 | g.25809089C= | CA1159806148 | SELENON | c.646-6C= (n.646-6C=) c.709C= (p.Pro237=) c.811C= (p.Pro271=) | |
1 | g.25809089C>G | CA339113814 | SELENON | c.646-6C>G (n.646-6C>G) c.709C>G (p.Pro237Ala) c.811C>G (p.Pro271Ala) | |
1 | g.25809089C>T | CA19698394 | SELENON | c.646-6C>T (n.646-6C>T) c.709C>T (p.Pro237Ser) c.811C>T (p.Pro271Ser) | dbSNP gnomAD v4 |
1 | g.25809090C>A | CA339113828 | SELENON | c.646-5C>A (n.646-5C>A) c.710C>A (p.Pro237His) c.812C>A (p.Pro271His) | |
1 | g.25809090C>G | CA339113832 | SELENON | c.646-5C>G (n.646-5C>G) c.710C>G (p.Pro237Arg) c.812C>G (p.Pro271Arg) | |
1 | g.25809090C>T | CA339113836 | SELENON | c.646-5C>T (n.646-5C>T) c.710C>T (p.Pro237Leu) c.812C>T (p.Pro271Leu) | gnomAD v4 |
1 | g.25809091T>A | CA416759081 | SELENON | c.646-4T>A (n.646-4T>A) c.711T>A (p.Pro237=) c.813T>A (p.Pro271=) | |
1 | g.25809091T>C | CA416759083 | SELENON | c.646-4T>C (n.646-4T>C) c.711T>C (p.Pro237=) c.813T>C (p.Pro271=) | |
1 | g.25809091T>G | CA416759082 | SELENON | c.646-4T>G (n.646-4T>G) c.711T>G (p.Pro237=) c.813T>G (p.Pro271=) | |
1 | g.25809092C>A | CA339113851 | SELENON | c.646-3C>A (n.646-3C>A) c.712C>A (p.Gln238Lys) c.814C>A (p.Gln272Lys) | |
1 | g.25809092C= | CA1159806149 | SELENON | c.646-3C= (n.646-3C=) c.712C= (p.Gln238=) c.814C= (p.Gln272=) | |
1 | g.25809092C>G | CA339113852 | SELENON | c.646-3C>G (n.646-3C>G) c.712C>G (p.Gln238Glu) c.814C>G (p.Gln272Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.25809092C>T | CA339113853 | SELENON | c.646-3C>T (n.646-3C>T) c.712C>T (p.Gln238Ter) c.814C>T (p.Gln272Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.25809093A>C | CA339113865 | SELENON | c.646-2A>C (n.646-2A>C) c.713A>C (p.Gln238Pro) c.815A>C (p.Gln272Pro) | |
1 | g.25809093A>G | CA339113860 | SELENON | c.646-2A>G (n.646-2A>G) c.713A>G (p.Gln238Arg) c.815A>G (p.Gln272Arg) | |
1 | g.25809093A>T | CA339113857 | SELENON | c.646-2A>T (n.646-2A>T) c.713A>T (p.Gln238Leu) c.815A>T (p.Gln272Leu) | |
1 | g.25809093_25809094del | CA2644199764 | SELENON | c.646-2_646-1del (n.646-2_646-1del) c.713_714del (p.Gln238ArgfsTer28) c.815_816del (p.Gln272ArgfsTer28) | gnomAD v4 |
1 | g.25809094G>A | CA696648 | SELENON | c.646-1G>A (n.646-1G>A) c.714G>A (p.Gln238=) c.816G>A (p.Gln272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809094G>C | CA339113871 | SELENON | c.646-1G>C (n.646-1G>C) c.714G>C (p.Gln238His) c.816G>C (p.Gln272His) | ClinVar dbSNP gnomAD v4 |
1 | g.25809094G= | CA1159806150 | SELENON | c.646-1G= (n.646-1G=) c.714G= (p.Gln238=) c.816G= (p.Gln272=) | |
1 | g.25809094G>T | CA339113875 | SELENON | c.646-1G>T (n.646-1G>T) c.714G>T (p.Gln238His) c.816G>T (p.Gln272His) | |
1 | g.25809095G>A | CA339113882 | SELENON | c.646G>A (p.Gly216Arg) c.715G>A (p.Gly239Arg) c.817G>A (p.Gly273Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.25809095G>C | CA339113885 | SELENON | c.646G>C (p.Gly216Arg) c.715G>C (p.Gly239Arg) c.817G>C (p.Gly273Arg) | |
1 | g.25809095G>T | CA339113887 | SELENON | c.646G>T (p.Gly216Ter) c.715G>T (p.Gly239Ter) c.817G>T (p.Gly273Ter) | |
1 | g.25809096G>A | CA253166 | SELENON | c.647G>A (p.Gly216Glu) c.716G>A (p.Gly239Glu) c.818G>A (p.Gly273Glu) | ClinVar dbSNP |
1 | g.25809096G>C | CA339113894 | SELENON | c.647G>C (p.Gly216Ala) c.716G>C (p.Gly239Ala) c.818G>C (p.Gly273Ala) | |
1 | g.25809096G= | CA1141580680 | SELENON | c.647G= (p.Gly216=) c.716G= (p.Gly239=) c.818G= (p.Gly273=) | |
1 | g.25809096G>T | CA339113895 | SELENON | c.647G>T (p.Gly216Val) c.716G>T (p.Gly239Val) c.818G>T (p.Gly273Val) | |
1 | g.25809097A>C | CA416759084 | SELENON | c.648A>C (p.Gly216=) c.717A>C (p.Gly239=) c.819A>C (p.Gly273=) | |
1 | g.25809097A>G | CA416759086 | SELENON | c.648A>G (p.Gly216=) c.717A>G (p.Gly239=) c.819A>G (p.Gly273=) | gnomAD v4 |
1 | g.25809097A>T | CA416759085 | SELENON | c.648A>T (p.Gly216=) c.717A>T (p.Gly239=) c.819A>T (p.Gly273=) | |
1 | g.25809098G>A | CA339113896 | SELENON | c.649G>A (p.Ala217Thr) c.718G>A (p.Ala240Thr) c.820G>A (p.Ala274Thr) | |
1 | g.25809098G>C | CA696649 | SELENON | c.649G>C (p.Ala217Pro) c.718G>C (p.Ala240Pro) c.820G>C (p.Ala274Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.25809098G= | CA1159806151 | SELENON | c.649G= (p.Ala217=) c.718G= (p.Ala240=) c.820G= (p.Ala274=) | |
1 | g.25809098G>T | CA339113900 | SELENON | c.649G>T (p.Ala217Ser) c.718G>T (p.Ala240Ser) c.820G>T (p.Ala274Ser) | |
1 | g.25809099C>A | CA339113923 | SELENON | c.650C>A (p.Ala217Asp) c.719C>A (p.Ala240Asp) c.821C>A (p.Ala274Asp) | gnomAD v4 |
1 | g.25809099C= | CA1159806152 | SELENON | c.650C= (p.Ala217=) c.719C= (p.Ala240=) c.821C= (p.Ala274=) | |
1 | g.25809099C>G | CA19698400 | SELENON | c.650C>G (p.Ala217Gly) c.719C>G (p.Ala240Gly) c.821C>G (p.Ala274Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809099C>T | CA339113903 | SELENON | c.650C>T (p.Ala217Val) c.719C>T (p.Ala240Val) c.821C>T (p.Ala274Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.25809100T>A | CA416759087 | SELENON | c.651T>A (p.Ala217=) c.720T>A (p.Ala240=) c.822T>A (p.Ala274=) | |
1 | g.25809100T>C | CA696650 | SELENON | c.651T>C (p.Ala217=) c.720T>C (p.Ala240=) c.822T>C (p.Ala274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809100T>G | CA416759088 | SELENON | c.651T>G (p.Ala217=) c.720T>G (p.Ala240=) c.822T>G (p.Ala274=) | |
1 | g.25809100T= | CA1145036176 | SELENON | c.651T= (p.Ala217=) c.720T= (p.Ala240=) c.822T= (p.Ala274=) | |
1 | g.25809101G>A | CA339113933 | SELENON | c.652G>A (p.Val218Met) c.721G>A (p.Val241Met) c.823G>A (p.Val275Met) | |
1 | g.25809101G>C | CA339113932 | SELENON | c.652G>C (p.Val218Leu) c.721G>C (p.Val241Leu) c.823G>C (p.Val275Leu) | |
1 | g.25809101G>T | CA339113935 | SELENON | c.652G>T (p.Val218Leu) c.721G>T (p.Val241Leu) c.823G>T (p.Val275Leu) | |
1 | g.25809102T>A | CA339113938 | SELENON | c.653T>A (p.Val218Glu) c.722T>A (p.Val241Glu) c.824T>A (p.Val275Glu) | |
1 | g.25809102T>C | CA339113941 | SELENON | c.653T>C (p.Val218Ala) c.722T>C (p.Val241Ala) c.824T>C (p.Val275Ala) | |
1 | g.25809102T>G | CA339113944 | SELENON | c.653T>G (p.Val218Gly) c.722T>G (p.Val241Gly) c.824T>G (p.Val275Gly) | |
1 | g.25809103G>A | CA416759089 | SELENON | c.654G>A (p.Val218=) c.723G>A (p.Val241=) c.825G>A (p.Val275=) | |
1 | g.25809103G>C | CA416759090 | SELENON | c.654G>C (p.Val218=) c.723G>C (p.Val241=) c.825G>C (p.Val275=) | |
1 | g.25809103G>T | CA416759091 | SELENON | c.654G>T (p.Val218=) c.723G>T (p.Val241=) c.825G>T (p.Val275=) | |
1 | g.25809104dup | CA2843107339 | SELENON | c.655dup (p.Ala219GlyfsTer25) c.724dup (p.Ala242GlyfsTer25) c.826dup (p.Ala276GlyfsTer25) | |
1 | g.25809104G>A | CA339113947 | SELENON | c.655G>A (p.Ala219Thr) c.724G>A (p.Ala242Thr) c.826G>A (p.Ala276Thr) | |
1 | g.25809104G>C | CA339113949 | SELENON | c.655G>C (p.Ala219Pro) c.724G>C (p.Ala242Pro) c.826G>C (p.Ala276Pro) | |
1 | g.25809104G= | CA1159806153 | SELENON | c.655G= (p.Ala219=) c.724G= (p.Ala242=) c.826G= (p.Ala276=) | |
1 | g.25809104G>T | CA339113951 | SELENON | c.655G>T (p.Ala219Ser) c.724G>T (p.Ala242Ser) c.826G>T (p.Ala276Ser) | gnomAD v4 |
1 | g.25809105C>A | CA339113958 | SELENON | c.656C>A (p.Ala219Asp) c.725C>A (p.Ala242Asp) c.827C>A (p.Ala276Asp) | |
1 | g.25809105C= | CA1159806154 | SELENON | c.656C= (p.Ala219=) c.725C= (p.Ala242=) c.827C= (p.Ala276=) | |
1 | g.25809105C>G | CA339113960 | SELENON | c.656C>G (p.Ala219Gly) c.725C>G (p.Ala242Gly) c.827C>G (p.Ala276Gly) | gnomAD v4 |
1 | g.25809105C>T | CA19698405 | SELENON | c.656C>T (p.Ala219Val) c.725C>T (p.Ala242Val) c.827C>T (p.Ala276Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.25809105_25809107dup | CA276995 | SELENON | c.656_658dup (p.Ala219_Cys220insSer) c.725_727dup (p.Ala242_Cys243insSer) c.827_829dup (p.Ala276_Cys277insSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |