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 |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7584358_7584365del | CA2695205961 | DSP | c.5767_5774del (p.Leu1924SerfsTer10) c.7096_7103del (p.Leu2367SerfsTer10) c.5299_5306del (p.Leu1768SerfsTer10) | |
| 6 | g.7584362_7584368delinsTATTAGA | CA1608611014 | DSP | c.5771_5777delinsTATTAGA (p.Leu1924=) c.7100_7106delinsTATTAGA (p.Leu2367=) c.5303_5309delinsTATTAGA (p.Leu1768=) | |
| 6 | g.7584364_7584369del | CA1608611018 | DSP | c.5773_5778del (p.Leu1925_Glu1926del) c.7102_7107del (p.Leu2368_Glu2369del) c.5305_5310del (p.Leu1769_Glu1770del) | dbSNP |
| 6 | g.7584365T>A | CA362692239 | DSP | c.5774T>A (p.Leu1925Ter) c.7103T>A (p.Leu2368Ter) c.5306T>A (p.Leu1769Ter) | |
| 6 | g.7584365T>C | CA362692240 | DSP | c.5774T>C (p.Leu1925Ser) c.7103T>C (p.Leu2368Ser) c.5306T>C (p.Leu1769Ser) | COSMIC |
| 6 | g.7584365T>G | CA362692241 | DSP | c.5774T>G (p.Leu1925Ter) c.7103T>G (p.Leu2368Ter) c.5306T>G (p.Leu1769Ter) | |
| 6 | g.7584366A>C | CA362692242 | DSP | c.5775A>C (p.Leu1925Phe) c.7104A>C (p.Leu2368Phe) c.5307A>C (p.Leu1769Phe) | |
| 6 | g.7584366A>G | CA448716323 | DSP | c.5775A>G (p.Leu1925=) c.7104A>G (p.Leu2368=) c.5307A>G (p.Leu1769=) | |
| 6 | g.7584366A>T | CA362692243 | DSP | c.5775A>T (p.Leu1925Phe) c.7104A>T (p.Leu2368Phe) c.5307A>T (p.Leu1769Phe) | |
| 6 | g.7584367G>A | CA362692244 | DSP | c.5776G>A (p.Glu1926Lys) c.7105G>A (p.Glu2369Lys) c.5308G>A (p.Glu1770Lys) | ClinVar COSMIC |
| 6 | g.7584367G>C | CA362692245 | DSP | c.5776G>C (p.Glu1926Gln) c.7105G>C (p.Glu2369Gln) c.5308G>C (p.Glu1770Gln) | |
| 6 | g.7584367G>T | CA362692246 | DSP | c.5776G>T (p.Glu1926Ter) c.7105G>T (p.Glu2369Ter) c.5308G>T (p.Glu1770Ter) | |
| 6 | g.7584368A>C | CA362692247 | DSP | c.5777A>C (p.Glu1926Ala) c.7106A>C (p.Glu2369Ala) c.5309A>C (p.Glu1770Ala) | |
| 6 | g.7584368A>G | CA362692248 | DSP | c.5777A>G (p.Glu1926Gly) c.7106A>G (p.Glu2369Gly) c.5309A>G (p.Glu1770Gly) | gnomAD v4 |
| 6 | g.7584368A>T | CA362692249 | DSP | c.5777A>T (p.Glu1926Val) c.7106A>T (p.Glu2369Val) c.5309A>T (p.Glu1770Val) | |
| 6 | g.7584369A>C | CA362692250 | DSP | c.5778A>C (p.Glu1926Asp) c.7107A>C (p.Glu2369Asp) c.5310A>C (p.Glu1770Asp) | |
| 6 | g.7584369A>G | CA448716337 | DSP | c.5778A>G (p.Glu1926=) c.7107A>G (p.Glu2369=) c.5310A>G (p.Glu1770=) | |
| 6 | g.7584369A>T | CA362692251 | DSP | c.5778A>T (p.Glu1926Asp) c.7107A>T (p.Glu2369Asp) c.5310A>T (p.Glu1770Asp) | |
| 6 | g.7584370G>A | CA362692252 | DSP | c.5779G>A (p.Ala1927Thr) c.7108G>A (p.Ala2370Thr) c.5311G>A (p.Ala1771Thr) | |
| 6 | g.7584370G>C | CA362692253 | DSP | c.5779G>C (p.Ala1927Pro) c.7108G>C (p.Ala2370Pro) c.5311G>C (p.Ala1771Pro) | |
| 6 | g.7584370G>T | CA362692254 | DSP | c.5779G>T (p.Ala1927Ser) c.7108G>T (p.Ala2370Ser) c.5311G>T (p.Ala1771Ser) | |
| 6 | g.7584371C>A | CA362692255 | DSP | c.5780C>A (p.Ala1927Glu) c.7109C>A (p.Ala2370Glu) c.5312C>A (p.Ala1771Glu) | |
| 6 | g.7584371C>G | CA362692256 | DSP | c.5780C>G (p.Ala1927Gly) c.7109C>G (p.Ala2370Gly) c.5312C>G (p.Ala1771Gly) | |
| 6 | g.7584371C>T | CA362692257 | DSP | c.5780C>T (p.Ala1927Val) c.7109C>T (p.Ala2370Val) c.5312C>T (p.Ala1771Val) | |
| 6 | g.7584372A>C | CA448716350 | DSP | c.5781A>C (p.Ala1927=) c.7110A>C (p.Ala2370=) c.5313A>C (p.Ala1771=) | |
| 6 | g.7584372A>G | CA448716351 | DSP | c.5781A>G (p.Ala1927=) c.7110A>G (p.Ala2370=) c.5313A>G (p.Ala1771=) | |
| 6 | g.7584372A>T | CA448716354 | DSP | c.5781A>T (p.Ala1927=) c.7110A>T (p.Ala2370=) c.5313A>T (p.Ala1771=) | |
| 6 | g.7584373C>A | CA362692258 | DSP | c.5782C>A (p.Gln1928Lys) c.7111C>A (p.Gln2371Lys) c.5314C>A (p.Gln1772Lys) | |
| 6 | g.7584373C>G | CA362692259 | DSP | c.5782C>G (p.Gln1928Glu) c.7111C>G (p.Gln2371Glu) c.5314C>G (p.Gln1772Glu) | |
| 6 | g.7584373C>T | CA362692260 | DSP | c.5782C>T (p.Gln1928Ter) c.7111C>T (p.Gln2371Ter) c.5314C>T (p.Gln1772Ter) | |
| 6 | g.7584375_7584381del | CA923726089 | DSP | c.5784_5790del (p.Ile1929ProfsTer17) c.7113_7119del (p.Ile2372ProfsTer17) c.5316_5322del (p.Ile1773ProfsTer17) | gnomAD v4 |
| 6 | g.7584374A>C | CA362692261 | DSP | c.5783A>C (p.Gln1928Pro) c.7112A>C (p.Gln2371Pro) c.5315A>C (p.Gln1772Pro) | |
| 6 | g.7584374A>G | CA362692262 | DSP | c.5783A>G (p.Gln1928Arg) c.7112A>G (p.Gln2371Arg) c.5315A>G (p.Gln1772Arg) | |
| 6 | g.7584374A>T | CA362692263 | DSP | c.5783A>T (p.Gln1928Leu) c.7112A>T (p.Gln2371Leu) c.5315A>T (p.Gln1772Leu) | |
| 6 | g.7584375G>A | CA448716370 | DSP | c.5784G>A (p.Gln1928=) c.7113G>A (p.Gln2371=) c.5316G>A (p.Gln1772=) | |
| 6 | g.7584375G>C | CA362692265 | DSP | c.5784G>C (p.Gln1928His) c.7113G>C (p.Gln2371His) c.5316G>C (p.Gln1772His) | |
| 6 | g.7584375G>T | CA362692264 | DSP | c.5784G>T (p.Gln1928His) c.7113G>T (p.Gln2371His) c.5316G>T (p.Gln1772His) | |
| 6 | g.7584376A>C | CA362692266 | DSP | c.5785A>C (p.Ile1929Leu) c.7114A>C (p.Ile2372Leu) c.5317A>C (p.Ile1773Leu) | |
| 6 | g.7584376A>G | CA362692268 | DSP | c.5785A>G (p.Ile1929Val) c.7114A>G (p.Ile2372Val) c.5317A>G (p.Ile1773Val) | gnomAD v4 |
| 6 | g.7584376A>T | CA362692267 | DSP | c.5785A>T (p.Ile1929Phe) c.7114A>T (p.Ile2372Phe) c.5317A>T (p.Ile1773Phe) | |
| 6 | g.7584377T>A | CA362692269 | DSP | c.5786T>A (p.Ile1929Asn) c.7115T>A (p.Ile2372Asn) c.5318T>A (p.Ile1773Asn) | |
| 6 | g.7584377T>C | CA362692270 | DSP | c.5786T>C (p.Ile1929Thr) c.7115T>C (p.Ile2372Thr) c.5318T>C (p.Ile1773Thr) | gnomAD v4 |
| 6 | g.7584377T>G | CA362692271 | DSP | c.5786T>G (p.Ile1929Ser) c.7115T>G (p.Ile2372Ser) c.5318T>G (p.Ile1773Ser) | |
| 6 | g.7584378C>A | CA448716373 | DSP | c.5787C>A (p.Ile1929=) c.7116C>A (p.Ile2372=) c.5319C>A (p.Ile1773=) | |
| 6 | g.7584378C= | CA1608611026 | DSP | c.5787C= (p.Ile1929=) c.7116C= (p.Ile2372=) c.5319C= (p.Ile1773=) | |
| 6 | g.7584378C>G | CA362692272 | DSP | c.5787C>G (p.Ile1929Met) c.7116C>G (p.Ile2372Met) c.5319C>G (p.Ile1773Met) | gnomAD v4 |
| 6 | g.7584378C>T | CA049118 | DSP | c.5787C>T (p.Ile1929=) c.7116C>T (p.Ile2372=) c.5319C>T (p.Ile1773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584379G>A | CA049132 | DSP | c.5788G>A (p.Ala1930Thr) c.7117G>A (p.Ala2373Thr) c.5320G>A (p.Ala1774Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584379G>C | CA362692273 | DSP | c.5788G>C (p.Ala1930Pro) c.7117G>C (p.Ala2373Pro) c.5320G>C (p.Ala1774Pro) | |
| 6 | g.7584379G= | CA1608611034 | DSP | c.5788G= (p.Ala1930=) c.7117G= (p.Ala2373=) c.5320G= (p.Ala1774=) | |
| 6 | g.7584379G>T | CA362692274 | DSP | c.5788G>T (p.Ala1930Ser) c.7117G>T (p.Ala2373Ser) c.5320G>T (p.Ala1774Ser) | |
| 6 | g.7584380C>A | CA362692275 | DSP | c.5789C>A (p.Ala1930Glu) c.7118C>A (p.Ala2373Glu) c.5321C>A (p.Ala1774Glu) | |
| 6 | g.7584380C>G | CA362692276 | DSP | c.5789C>G (p.Ala1930Gly) c.7118C>G (p.Ala2373Gly) c.5321C>G (p.Ala1774Gly) | |
| 6 | g.7584380C>T | CA362692277 | DSP | c.5789C>T (p.Ala1930Val) c.7118C>T (p.Ala2373Val) c.5321C>T (p.Ala1774Val) | |
| 6 | g.7584381A>C | CA448716380 | DSP | c.5790A>C (p.Ala1930=) c.7119A>C (p.Ala2373=) c.5322A>C (p.Ala1774=) | ClinVar |
| 6 | g.7584381A>G | CA448716382 | DSP | c.5790A>G (p.Ala1930=) c.7119A>G (p.Ala2373=) c.5322A>G (p.Ala1774=) | |
| 6 | g.7584381A>T | CA448716381 | DSP | c.5790A>T (p.Ala1930=) c.7119A>T (p.Ala2373=) c.5322A>T (p.Ala1774=) | |
| 6 | g.7584382A= | CA1608611040 | DSP | c.5791A= (p.Thr1931=) c.7120A= (p.Thr2374=) c.5323A= (p.Thr1775=) | |
| 6 | g.7584382A>C | CA362692280 | DSP | c.5791A>C (p.Thr1931Pro) c.7120A>C (p.Thr2374Pro) c.5323A>C (p.Thr1775Pro) | |
| 6 | g.7584382A>G | CA362692279 | DSP | c.5791A>G (p.Thr1931Ala) c.7120A>G (p.Thr2374Ala) c.5323A>G (p.Thr1775Ala) | ClinVar dbSNP |
| 6 | g.7584382A>T | CA362692278 | DSP | c.5791A>T (p.Thr1931Ser) c.7120A>T (p.Thr2374Ser) c.5323A>T (p.Thr1775Ser) | dbSNP |
| 6 | g.7584383C>A | CA362692281 | DSP | c.5792C>A (p.Thr1931Asn) c.7121C>A (p.Thr2374Asn) c.5324C>A (p.Thr1775Asn) | |
| 6 | g.7584383C>G | CA362692282 | DSP | c.5792C>G (p.Thr1931Ser) c.7121C>G (p.Thr2374Ser) c.5324C>G (p.Thr1775Ser) | |
| 6 | g.7584383C>T | CA362692283 | DSP | c.5792C>T (p.Thr1931Ile) c.7121C>T (p.Thr2374Ile) c.5324C>T (p.Thr1775Ile) | |
| 6 | g.7584383_7584384delinsTT | CA2580075352 | DSP | c.5792_5793delinsTT (p.Thr1931Ile) c.7121_7122delinsTT (p.Thr2374Ile) c.5324_5325delinsTT (p.Thr1775Ile) | ClinVar |
| 6 | g.7584384del | CA645552061 | DSP | c.5793del (p.Ile1934SerfsTer14) c.7122del (p.Ile2377SerfsTer14) c.5325del (p.Ile1778SerfsTer14) | COSMIC |
| 6 | g.7584384C>A | CA448716386 | DSP | c.5793C>A (p.Thr1931=) c.7122C>A (p.Thr2374=) c.5325C>A (p.Thr1775=) | |
| 6 | g.7584384C= | CA1608611047 | DSP | c.5793C= (p.Thr1931=) c.7122C= (p.Thr2374=) c.5325C= (p.Thr1775=) | |
| 6 | g.7584384C>G | CA448716388 | DSP | c.5793C>G (p.Thr1931=) c.7122C>G (p.Thr2374=) c.5325C>G (p.Thr1775=) | gnomAD v4 |
| 6 | g.7584384C>T | CA007128 | DSP | c.5793C>T (p.Thr1931=) c.7122C>T (p.Thr2374=) c.5325C>T (p.Thr1775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584385G>A | CA133975688 | DSP | c.5794G>A (p.Gly1932Arg) c.7123G>A (p.Gly2375Arg) c.5326G>A (p.Gly1776Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584385G>C | CA004694 | DSP | c.5794G>C (p.Gly1932Arg) c.7123G>C (p.Gly2375Arg) c.5326G>C (p.Gly1776Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584385G= | CA1608611061 | DSP | c.5794G= (p.Gly1932=) c.7123G= (p.Gly2375=) c.5326G= (p.Gly1776=) | |
| 6 | g.7584385G>T | CA362692284 | DSP | c.5794G>T (p.Gly1932Trp) c.7123G>T (p.Gly2375Trp) c.5326G>T (p.Gly1776Trp) | COSMIC |
| 6 | g.7584390dup | CA2769903888 | DSP | c.5799dup (p.Ile1934AspfsTer3) c.7128dup (p.Ile2377AspfsTer3) c.5331dup (p.Ile1778AspfsTer3) | |
| 6 | g.7584390del | CA645552062 | DSP | c.5799del (p.Ile1934SerfsTer14) c.7128del (p.Ile2377SerfsTer14) c.5331del (p.Ile1778SerfsTer14) | COSMIC |
| 6 | g.7584386G>A | CA362692285 | DSP | c.5795G>A (p.Gly1932Glu) c.7124G>A (p.Gly2375Glu) c.5327G>A (p.Gly1776Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584386G>C | CA362692286 | DSP | c.5795G>C (p.Gly1932Ala) c.7124G>C (p.Gly2375Ala) c.5327G>C (p.Gly1776Ala) | |
| 6 | g.7584386G= | CA1608611072 | DSP | c.5795G= (p.Gly1932=) c.7124G= (p.Gly2375=) c.5327G= (p.Gly1776=) | |
| 6 | g.7584386G>T | CA362692287 | DSP | c.5795G>T (p.Gly1932Val) c.7124G>T (p.Gly2375Val) c.5327G>T (p.Gly1776Val) | |
| 6 | g.7584387G>A | CA007142 | DSP | c.5796G>A (p.Gly1932=) c.7125G>A (p.Gly2375=) c.5328G>A (p.Gly1776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584387G>C | CA049161 | DSP | c.5796G>C (p.Gly1932=) c.7125G>C (p.Gly2375=) c.5328G>C (p.Gly1776=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584387G= | CA1608611082 | DSP | c.5796G= (p.Gly1932=) c.7125G= (p.Gly2375=) c.5328G= (p.Gly1776=) | |
| 6 | g.7584387G>T | CA448716403 | DSP | c.5796G>T (p.Gly1932=) c.7125G>T (p.Gly2375=) c.5328G>T (p.Gly1776=) | |
| 6 | g.7584388G>A | CA362692288 | DSP | c.5797G>A (p.Gly1933Arg) c.7126G>A (p.Gly2376Arg) c.5329G>A (p.Gly1777Arg) | |
| 6 | g.7584388G>C | CA362692290 | DSP | c.5797G>C (p.Gly1933Arg) c.7126G>C (p.Gly2376Arg) c.5329G>C (p.Gly1777Arg) | |
| 6 | g.7584388G>T | CA362692289 | DSP | c.5797G>T (p.Gly1933Trp) c.7126G>T (p.Gly2376Trp) c.5329G>T (p.Gly1777Trp) | |
| 6 | g.7584389G>A | CA362692291 | DSP | c.5798G>A (p.Gly1933Glu) c.7127G>A (p.Gly2376Glu) c.5330G>A (p.Gly1777Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584389G>C | CA362692293 | DSP | c.5798G>C (p.Gly1933Ala) c.7127G>C (p.Gly2376Ala) c.5330G>C (p.Gly1777Ala) | |
| 6 | g.7584389G= | CA1608611091 | DSP | c.5798G= (p.Gly1933=) c.7127G= (p.Gly2376=) c.5330G= (p.Gly1777=) | |
| 6 | g.7584389G>T | CA362692292 | DSP | c.5798G>T (p.Gly1933Val) c.7127G>T (p.Gly2376Val) c.5330G>T (p.Gly1777Val) | |
| 6 | g.7584390G>A | CA049171 | DSP | c.5799G>A (p.Gly1933=) c.7128G>A (p.Gly2376=) c.5331G>A (p.Gly1777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7584390G>C | CA049185 | DSP | c.5799G>C (p.Gly1933=) c.7128G>C (p.Gly2376=) c.5331G>C (p.Gly1777=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584390G= | CA1608611100 | DSP | c.5799G= (p.Gly1933=) c.7128G= (p.Gly2376=) c.5331G= (p.Gly1777=) | |
| 6 | g.7584390G>T | CA049202 | DSP | c.5799G>T (p.Gly1933=) c.7128G>T (p.Gly2376=) c.5331G>T (p.Gly1777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584391A>C | CA362692294 | DSP | c.5800A>C (p.Ile1934Leu) c.7129A>C (p.Ile2377Leu) c.5332A>C (p.Ile1778Leu) | |
| 6 | g.7584391A>G | CA362692295 | DSP | c.5800A>G (p.Ile1934Val) c.7129A>G (p.Ile2377Val) c.5332A>G (p.Ile1778Val) | |
| 6 | g.7584391A>T | CA362692296 | DSP | c.5800A>T (p.Ile1934Phe) c.7129A>T (p.Ile2377Phe) c.5332A>T (p.Ile1778Phe) | |
| 6 | g.7584391dup | CA2695205962 | DSP | c.5800dup (p.Ile1934AsnfsTer3) c.7129dup (p.Ile2377AsnfsTer3) c.5332dup (p.Ile1778AsnfsTer3) | |
| 6 | g.7584391_7584414del | CA2573140820 | DSP | c.5800_5823del (p.Ile1934_His1941del) c.7129_7152del (p.Ile2377_His2384del) c.5332_5355del (p.Ile1778_His1785del) | ClinVar dbSNP |
| 6 | g.7584392T>A | CA362692297 | DSP | c.5801T>A (p.Ile1934Asn) c.7130T>A (p.Ile2377Asn) c.5333T>A (p.Ile1778Asn) | |
| 6 | g.7584392T>C | CA362692298 | DSP | c.5801T>C (p.Ile1934Thr) c.7130T>C (p.Ile2377Thr) c.5333T>C (p.Ile1778Thr) | |
| 6 | g.7584392T>G | CA362692299 | DSP | c.5801T>G (p.Ile1934Ser) c.7130T>G (p.Ile2377Ser) c.5333T>G (p.Ile1778Ser) | |
| 6 | g.7584393C>A | CA448716419 | DSP | c.5802C>A (p.Ile1934=) c.7131C>A (p.Ile2377=) c.5334C>A (p.Ile1778=) | ClinVar dbSNP |
| 6 | g.7584393C= | CA1608611105 | DSP | c.5802C= (p.Ile1934=) c.7131C= (p.Ile2377=) c.5334C= (p.Ile1778=) | |
| 6 | g.7584393C>G | CA362692300 | DSP | c.5802C>G (p.Ile1934Met) c.7131C>G (p.Ile2377Met) c.5334C>G (p.Ile1778Met) | |
| 6 | g.7584393C>T | CA448716423 | DSP | c.5802C>T (p.Ile1934=) c.7131C>T (p.Ile2377=) c.5334C>T (p.Ile1778=) | |
| 6 | g.7584394A>C | CA362692301 | DSP | c.5803A>C (p.Ile1935Leu) c.7132A>C (p.Ile2378Leu) c.5335A>C (p.Ile1779Leu) | |
| 6 | g.7584394A>G | CA362692302 | DSP | c.5803A>G (p.Ile1935Val) c.7132A>G (p.Ile2378Val) c.5335A>G (p.Ile1779Val) | |
| 6 | g.7584394A>T | CA362692303 | DSP | c.5803A>T (p.Ile1935Phe) c.7132A>T (p.Ile2378Phe) c.5335A>T (p.Ile1779Phe) | |
| 6 | g.7584395T>A | CA362692304 | DSP | c.5804T>A (p.Ile1935Asn) c.7133T>A (p.Ile2378Asn) c.5336T>A (p.Ile1779Asn) | |
| 6 | g.7584395T>C | CA362692305 | DSP | c.5804T>C (p.Ile1935Thr) c.7133T>C (p.Ile2378Thr) c.5336T>C (p.Ile1779Thr) | gnomAD v4 |
| 6 | g.7584395T>G | CA362692306 | DSP | c.5804T>G (p.Ile1935Ser) c.7133T>G (p.Ile2378Ser) c.5336T>G (p.Ile1779Ser) | |
| 6 | g.7584396T>A | CA448716430 | DSP | c.5805T>A (p.Ile1935=) c.7134T>A (p.Ile2378=) c.5337T>A (p.Ile1779=) | |
| 6 | g.7584396T>C | CA448716432 | DSP | c.5805T>C (p.Ile1935=) c.7134T>C (p.Ile2378=) c.5337T>C (p.Ile1779=) | |
| 6 | g.7584396T>G | CA362692307 | DSP | c.5805T>G (p.Ile1935Met) c.7134T>G (p.Ile2378Met) c.5337T>G (p.Ile1779Met) | |
| 6 | g.7584397G>A | CA362692308 | DSP | c.5806G>A (p.Asp1936Asn) c.7135G>A (p.Asp2379Asn) c.5338G>A (p.Asp1780Asn) | |
| 6 | g.7584397G>C | CA362692309 | DSP | c.5806G>C (p.Asp1936His) c.7135G>C (p.Asp2379His) c.5338G>C (p.Asp1780His) | gnomAD v4 |
| 6 | g.7584397G>T | CA362692310 | DSP | c.5806G>T (p.Asp1936Tyr) c.7135G>T (p.Asp2379Tyr) c.5338G>T (p.Asp1780Tyr) | gnomAD v4 |
| 6 | g.7584398A>C | CA362692311 | DSP | c.5807A>C (p.Asp1936Ala) c.7136A>C (p.Asp2379Ala) c.5339A>C (p.Asp1780Ala) | |
| 6 | g.7584398A>G | CA362692312 | DSP | c.5807A>G (p.Asp1936Gly) c.7136A>G (p.Asp2379Gly) c.5339A>G (p.Asp1780Gly) | |
| 6 | g.7584398A>T | CA362692313 | DSP | c.5807A>T (p.Asp1936Val) c.7136A>T (p.Asp2379Val) c.5339A>T (p.Asp1780Val) | |
| 6 | g.7584399C>A | CA362692314 | DSP | c.5808C>A (p.Asp1936Glu) c.7137C>A (p.Asp2379Glu) c.5340C>A (p.Asp1780Glu) | |
| 6 | g.7584399C>G | CA362692315 | DSP | c.5808C>G (p.Asp1936Glu) c.7137C>G (p.Asp2379Glu) c.5340C>G (p.Asp1780Glu) | |
| 6 | g.7584399C>T | CA448716442 | DSP | c.5808C>T (p.Asp1936=) c.7137C>T (p.Asp2379=) c.5340C>T (p.Asp1780=) | gnomAD v4 |
| 6 | g.7584400C>A | CA362692316 | DSP | c.5809C>A (p.Pro1937Thr) c.7138C>A (p.Pro2380Thr) c.5341C>A (p.Pro1781Thr) | |
| 6 | g.7584400C>G | CA362692317 | DSP | c.5809C>G (p.Pro1937Ala) c.7138C>G (p.Pro2380Ala) c.5341C>G (p.Pro1781Ala) | |
| 6 | g.7584400C>T | CA362692318 | DSP | c.5809C>T (p.Pro1937Ser) c.7138C>T (p.Pro2380Ser) c.5341C>T (p.Pro1781Ser) | |
| 6 | g.7584401C>A | CA362692321 | DSP | c.5810C>A (p.Pro1937Gln) c.7139C>A (p.Pro2380Gln) c.5342C>A (p.Pro1781Gln) | |
| 6 | g.7584401C>G | CA362692320 | DSP | c.5810C>G (p.Pro1937Arg) c.7139C>G (p.Pro2380Arg) c.5342C>G (p.Pro1781Arg) | |
| 6 | g.7584401C>T | CA362692319 | DSP | c.5810C>T (p.Pro1937Leu) c.7139C>T (p.Pro2380Leu) c.5342C>T (p.Pro1781Leu) | |
| 6 | g.7584402A>C | CA448716451 | DSP | c.5811A>C (p.Pro1937=) c.7140A>C (p.Pro2380=) c.5343A>C (p.Pro1781=) | |
| 6 | g.7584402A>G | CA448716453 | DSP | c.5811A>G (p.Pro1937=) c.7140A>G (p.Pro2380=) c.5343A>G (p.Pro1781=) | |
| 6 | g.7584402A>T | CA448716454 | DSP | c.5811A>T (p.Pro1937=) c.7140A>T (p.Pro2380=) c.5343A>T (p.Pro1781=) | |
| 6 | g.7584403A>C | CA362692322 | DSP | c.5812A>C (p.Lys1938Gln) c.7141A>C (p.Lys2381Gln) c.5344A>C (p.Lys1782Gln) | |
| 6 | g.7584403A>G | CA362692323 | DSP | c.5812A>G (p.Lys1938Glu) c.7141A>G (p.Lys2381Glu) c.5344A>G (p.Lys1782Glu) | |
| 6 | g.7584403A>T | CA362692324 | DSP | c.5812A>T (p.Lys1938Ter) c.7141A>T (p.Lys2381Ter) c.5344A>T (p.Lys1782Ter) | |
| 6 | g.7584404A>C | CA362692325 | DSP | c.5813A>C (p.Lys1938Thr) c.7142A>C (p.Lys2381Thr) c.5345A>C (p.Lys1782Thr) | |
| 6 | g.7584404A>G | CA362692326 | DSP | c.5813A>G (p.Lys1938Arg) c.7142A>G (p.Lys2381Arg) c.5345A>G (p.Lys1782Arg) | gnomAD v4 |
| 6 | g.7584404A>T | CA362692327 | DSP | c.5813A>T (p.Lys1938Met) c.7142A>T (p.Lys2381Met) c.5345A>T (p.Lys1782Met) | |
| 6 | g.7584405G>A | CA448716474 | DSP | c.5814G>A (p.Lys1938=) c.7143G>A (p.Lys2381=) c.5346G>A (p.Lys1782=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584405G>C | CA362692328 | DSP | c.5814G>C (p.Lys1938Asn) c.7143G>C (p.Lys2381Asn) c.5346G>C (p.Lys1782Asn) | dbSNP |
| 6 | g.7584405G= | CA1608611109 | DSP | c.5814G= (p.Lys1938=) c.7143G= (p.Lys2381=) c.5346G= (p.Lys1782=) | |
| 6 | g.7584405G>T | CA362692329 | DSP | c.5814G>T (p.Lys1938Asn) c.7143G>T (p.Lys2381Asn) c.5346G>T (p.Lys1782Asn) | |
| 6 | g.7584406G>A | CA362692330 | DSP | c.5815G>A (p.Glu1939Lys) c.7144G>A (p.Glu2382Lys) c.5347G>A (p.Glu1783Lys) | |
| 6 | g.7584406G>C | CA362692331 | DSP | c.5815G>C (p.Glu1939Gln) c.7144G>C (p.Glu2382Gln) c.5347G>C (p.Glu1783Gln) | |
| 6 | g.7584406G>T | CA362692332 | DSP | c.5815G>T (p.Glu1939Ter) c.7144G>T (p.Glu2382Ter) c.5347G>T (p.Glu1783Ter) | |
| 6 | g.7584407A>C | CA362692333 | DSP | c.5816A>C (p.Glu1939Ala) c.7145A>C (p.Glu2382Ala) c.5348A>C (p.Glu1783Ala) | |
| 6 | g.7584407A>G | CA362692334 | DSP | c.5816A>G (p.Glu1939Gly) c.7145A>G (p.Glu2382Gly) c.5348A>G (p.Glu1783Gly) | |
| 6 | g.7584407A>T | CA362692335 | DSP | c.5816A>T (p.Glu1939Val) c.7145A>T (p.Glu2382Val) c.5348A>T (p.Glu1783Val) | |
| 6 | g.7584407_7584423del | CA2677219518 | DSP | c.5816_5832del (p.Glu1939GlyfsTer2) c.7145_7161del (p.Glu2382GlyfsTer2) c.5348_5364del (p.Glu1783GlyfsTer2) | gnomAD v4 |
| 6 | g.7584408G>A | CA448716484 | DSP | c.5817G>A (p.Glu1939=) c.7146G>A (p.Glu2382=) c.5349G>A (p.Glu1783=) | |
| 6 | g.7584408G>C | CA362692336 | DSP | c.5817G>C (p.Glu1939Asp) c.7146G>C (p.Glu2382Asp) c.5349G>C (p.Glu1783Asp) | |
| 6 | g.7584408G>T | CA362692337 | DSP | c.5817G>T (p.Glu1939Asp) c.7146G>T (p.Glu2382Asp) c.5349G>T (p.Glu1783Asp) | |
| 6 | g.7584409A>C | CA362692338 | DSP | c.5818A>C (p.Ser1940Arg) c.7147A>C (p.Ser2383Arg) c.5350A>C (p.Ser1784Arg) | |
| 6 | g.7584409A>G | CA362692339 | DSP | c.5818A>G (p.Ser1940Gly) c.7147A>G (p.Ser2383Gly) c.5350A>G (p.Ser1784Gly) | gnomAD v4 |
| 6 | g.7584409A>T | CA362692340 | DSP | c.5818A>T (p.Ser1940Cys) c.7147A>T (p.Ser2383Cys) c.5350A>T (p.Ser1784Cys) | |
| 6 | g.7584410G>A | CA362692341 | DSP | c.5819G>A (p.Ser1940Asn) c.7148G>A (p.Ser2383Asn) c.5351G>A (p.Ser1784Asn) | |
| 6 | g.7584410G>C | CA362692342 | DSP | c.5819G>C (p.Ser1940Thr) c.7148G>C (p.Ser2383Thr) c.5351G>C (p.Ser1784Thr) | |
| 6 | g.7584410G>T | CA362692343 | DSP | c.5819G>T (p.Ser1940Ile) c.7148G>T (p.Ser2383Ile) c.5351G>T (p.Ser1784Ile) | |
| 6 | g.7584411C>A | CA362692344 | DSP | c.5820C>A (p.Ser1940Arg) c.7149C>A (p.Ser2383Arg) c.5352C>A (p.Ser1784Arg) | dbSNP |
| 6 | g.7584411C>G | CA362692345 | DSP | c.5820C>G (p.Ser1940Arg) c.7149C>G (p.Ser2383Arg) c.5352C>G (p.Ser1784Arg) | |
| 6 | g.7584411C>T | CA448716497 | DSP | c.5820C>T (p.Ser1940=) c.7149C>T (p.Ser2383=) c.5352C>T (p.Ser1784=) | |
| 6 | g.7584412C>A | CA362692346 | DSP | c.5821C>A (p.His1941Asn) c.7150C>A (p.His2384Asn) c.5353C>A (p.His1785Asn) | gnomAD v4 |
| 6 | g.7584412C>G | CA362692347 | DSP | c.5821C>G (p.His1941Asp) c.7150C>G (p.His2384Asp) c.5353C>G (p.His1785Asp) | |
| 6 | g.7584412C>T | CA362692348 | DSP | c.5821C>T (p.His1941Tyr) c.7150C>T (p.His2384Tyr) c.5353C>T (p.His1785Tyr) | |
| 6 | g.7584413A>C | CA362692351 | DSP | c.5822A>C (p.His1941Pro) c.7151A>C (p.His2384Pro) c.5354A>C (p.His1785Pro) | |
| 6 | g.7584413A>G | CA362692350 | DSP | c.5822A>G (p.His1941Arg) c.7151A>G (p.His2384Arg) c.5354A>G (p.His1785Arg) | |
| 6 | g.7584413A>T | CA362692349 | DSP | c.5822A>T (p.His1941Leu) c.7151A>T (p.His2384Leu) c.5354A>T (p.His1785Leu) | |
| 6 | g.7584414T>A | CA362692352 | DSP | c.5823T>A (p.His1941Gln) c.7152T>A (p.His2384Gln) c.5355T>A (p.His1785Gln) | |
| 6 | g.7584414T>C | CA448716520 | DSP | c.5823T>C (p.His1941=) c.7152T>C (p.His2384=) c.5355T>C (p.His1785=) | |
| 6 | g.7584414T>G | CA362692353 | DSP | c.5823T>G (p.His1941Gln) c.7152T>G (p.His2384Gln) c.5355T>G (p.His1785Gln) | |
| 6 | g.7584415C>A | CA362692354 | DSP | c.5824C>A (p.Arg1942Ser) c.7153C>A (p.Arg2385Ser) c.5356C>A (p.Arg1786Ser) | gnomAD v4 |
| 6 | g.7584415C= | CA1608611114 | DSP | c.5824C= (p.Arg1942=) c.7153C= (p.Arg2385=) c.5356C= (p.Arg1786=) | |
| 6 | g.7584415C>G | CA362692355 | DSP | c.5824C>G (p.Arg1942Gly) c.7153C>G (p.Arg2385Gly) c.5356C>G (p.Arg1786Gly) | |
| 6 | g.7584415C>T | CA049214 | DSP | c.5824C>T (p.Arg1942Cys) c.7153C>T (p.Arg2385Cys) c.5356C>T (p.Arg1786Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584416G>A | CA362692356 | DSP | c.5825G>A (p.Arg1942His) c.7154G>A (p.Arg2385His) c.5357G>A (p.Arg1786His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7584416G>C | CA362692357 | DSP | c.5825G>C (p.Arg1942Pro) c.7154G>C (p.Arg2385Pro) c.5357G>C (p.Arg1786Pro) | |
| 6 | g.7584416G= | CA1608611122 | DSP | c.5825G= (p.Arg1942=) c.7154G= (p.Arg2385=) c.5357G= (p.Arg1786=) | |
| 6 | g.7584416G>T | CA362692358 | DSP | c.5825G>T (p.Arg1942Leu) c.7154G>T (p.Arg2385Leu) c.5357G>T (p.Arg1786Leu) | |
| 6 | g.7584417T>A | CA448716532 | DSP | c.5826T>A (p.Arg1942=) c.7155T>A (p.Arg2385=) c.5358T>A (p.Arg1786=) | |
| 6 | g.7584417T>C | CA448716534 | DSP | c.5826T>C (p.Arg1942=) c.7155T>C (p.Arg2385=) c.5358T>C (p.Arg1786=) | |
| 6 | g.7584417T>G | CA448716533 | DSP | c.5826T>G (p.Arg1942=) c.7155T>G (p.Arg2385=) c.5358T>G (p.Arg1786=) | |
| 6 | g.7584418T>A | CA362692359 | DSP | c.5827T>A (p.Leu1943Ile) c.7156T>A (p.Leu2386Ile) c.5359T>A (p.Leu1787Ile) | |
| 6 | g.7584418T>C | CA448716536 | DSP | c.5827T>C (p.Leu1943=) c.7156T>C (p.Leu2386=) c.5359T>C (p.Leu1787=) | gnomAD v4 |
| 6 | g.7584418T>G | CA362692360 | DSP | c.5827T>G (p.Leu1943Val) c.7156T>G (p.Leu2386Val) c.5359T>G (p.Leu1787Val) | |
| 6 | g.7584419T>A | CA362692361 | DSP | c.5828T>A (p.Leu1943Ter) c.7157T>A (p.Leu2386Ter) c.5360T>A (p.Leu1787Ter) | |
| 6 | g.7584419T>C | CA362692362 | DSP | c.5828T>C (p.Leu1943Ser) c.7157T>C (p.Leu2386Ser) c.5360T>C (p.Leu1787Ser) | gnomAD v4 |
| 6 | g.7584419T>G | CA362692363 | DSP | c.5828T>G (p.Leu1943Ter) c.7157T>G (p.Leu2386Ter) c.5360T>G (p.Leu1787Ter) | |
| 6 | g.7584420A>C | CA362692364 | DSP | c.5829A>C (p.Leu1943Phe) c.7158A>C (p.Leu2386Phe) c.5361A>C (p.Leu1787Phe) | |
| 6 | g.7584420A>G | CA448716543 | DSP | c.5829A>G (p.Leu1943=) c.7158A>G (p.Leu2386=) c.5361A>G (p.Leu1787=) | |
| 6 | g.7584420A>T | CA362692365 | DSP | c.5829A>T (p.Leu1943Phe) c.7158A>T (p.Leu2386Phe) c.5361A>T (p.Leu1787Phe) | |
| 6 | g.7584421C>A | CA362692366 | DSP | c.5830C>A (p.Pro1944Thr) c.7159C>A (p.Pro2387Thr) c.5362C>A (p.Pro1788Thr) | |
| 6 | g.7584421C>G | CA362692369 | DSP | c.5830C>G (p.Pro1944Ala) c.7159C>G (p.Pro2387Ala) c.5362C>G (p.Pro1788Ala) | |
| 6 | g.7584421C>T | CA362692367 | DSP | c.5830C>T (p.Pro1944Ser) c.7159C>T (p.Pro2387Ser) c.5362C>T (p.Pro1788Ser) | |
| 6 | g.7584422C>A | CA362692370 | DSP | c.5831C>A (p.Pro1944Gln) c.7160C>A (p.Pro2387Gln) c.5363C>A (p.Pro1788Gln) | |
| 6 | g.7584422C= | CA1608611132 | DSP | c.5831C= (p.Pro1944=) c.7160C= (p.Pro2387=) c.5363C= (p.Pro1788=) | |
| 6 | g.7584422C>G | CA362692371 | DSP | c.5831C>G (p.Pro1944Arg) c.7160C>G (p.Pro2387Arg) c.5363C>G (p.Pro1788Arg) | |
| 6 | g.7584422C>T | CA049230 | DSP | c.5831C>T (p.Pro1944Leu) c.7160C>T (p.Pro2387Leu) c.5363C>T (p.Pro1788Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584423A>C | CA448716561 | DSP | c.5832A>C (p.Pro1944=) c.7161A>C (p.Pro2387=) c.5364A>C (p.Pro1788=) | |
| 6 | g.7584423A>G | CA448716562 | DSP | c.5832A>G (p.Pro1944=) c.7161A>G (p.Pro2387=) c.5364A>G (p.Pro1788=) | |
| 6 | g.7584423A>T | CA448716564 | DSP | c.5832A>T (p.Pro1944=) c.7161A>T (p.Pro2387=) c.5364A>T (p.Pro1788=) | |
| 6 | g.7584424G>A | CA049243 | DSP | c.5833G>A (p.Val1945Ile) c.7162G>A (p.Val2388Ile) c.5365G>A (p.Val1789Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584424G>C | CA362692372 | DSP | c.5833G>C (p.Val1945Leu) c.7162G>C (p.Val2388Leu) c.5365G>C (p.Val1789Leu) | |
| 6 | g.7584424G= | CA1608611139 | DSP | c.5833G= (p.Val1945=) c.7162G= (p.Val2388=) c.5365G= (p.Val1789=) | |
| 6 | g.7584424G>T | CA362692373 | DSP | c.5833G>T (p.Val1945Phe) c.7162G>T (p.Val2388Phe) c.5365G>T (p.Val1789Phe) | |
| 6 | g.7584425T>A | CA362692374 | DSP | c.5834T>A (p.Val1945Asp) c.7163T>A (p.Val2388Asp) c.5366T>A (p.Val1789Asp) | |
| 6 | g.7584425T>C | CA362692375 | DSP | c.5834T>C (p.Val1945Ala) c.7163T>C (p.Val2388Ala) c.5366T>C (p.Val1789Ala) | ClinVar |
| 6 | g.7584425T>G | CA362692376 | DSP | c.5834T>G (p.Val1945Gly) c.7163T>G (p.Val2388Gly) c.5366T>G (p.Val1789Gly) | |
| 6 | g.7584426T>A | CA448716575 | DSP | c.5835T>A (p.Val1945=) c.7164T>A (p.Val2388=) c.5367T>A (p.Val1789=) | |
| 6 | g.7584426T>C | CA448716576 | DSP | c.5835T>C (p.Val1945=) c.7164T>C (p.Val2388=) c.5367T>C (p.Val1789=) | |
| 6 | g.7584426T>G | CA448716578 | DSP | c.5835T>G (p.Val1945=) c.7164T>G (p.Val2388=) c.5367T>G (p.Val1789=) | |
| 6 | g.7584427G>A | CA362692377 | DSP | c.5836G>A (p.Asp1946Asn) c.7165G>A (p.Asp2389Asn) c.5368G>A (p.Asp1790Asn) | |
| 6 | g.7584427G>C | CA362692378 | DSP | c.5836G>C (p.Asp1946His) c.7165G>C (p.Asp2389His) c.5368G>C (p.Asp1790His) | |
| 6 | g.7584427G>T | CA362692379 | DSP | c.5836G>T (p.Asp1946Tyr) c.7165G>T (p.Asp2389Tyr) c.5368G>T (p.Asp1790Tyr) | |
| 6 | g.7584428A>C | CA362692380 | DSP | c.5837A>C (p.Asp1946Ala) c.7166A>C (p.Asp2389Ala) c.5369A>C (p.Asp1790Ala) | |
| 6 | g.7584428A>G | CA362692382 | DSP | c.5837A>G (p.Asp1946Gly) c.7166A>G (p.Asp2389Gly) c.5369A>G (p.Asp1790Gly) | |
| 6 | g.7584428A>T | CA362692381 | DSP | c.5837A>T (p.Asp1946Val) c.7166A>T (p.Asp2389Val) c.5369A>T (p.Asp1790Val) | |
| 6 | g.7584429C>A | CA362692383 | DSP | c.5838C>A (p.Asp1946Glu) c.7167C>A (p.Asp2389Glu) c.5370C>A (p.Asp1790Glu) | |
| 6 | g.7584429C>G | CA362692384 | DSP | c.5838C>G (p.Asp1946Glu) c.7167C>G (p.Asp2389Glu) c.5370C>G (p.Asp1790Glu) | |
| 6 | g.7584429C>T | CA448716590 | DSP | c.5838C>T (p.Asp1946=) c.7167C>T (p.Asp2389=) c.5370C>T (p.Asp1790=) | ClinVar dbSNP |
| 6 | g.7584429_7584431delinsCAT | CA1608611146 | DSP | c.5838_5840delinsCAT (p.Asp1946=) c.7167_7169delinsCAT (p.Asp2389=) c.5370_5372delinsCAT (p.Asp1790=) | |
| 6 | g.7584430A= | CA1608611153 | DSP | c.5839A= (p.Ile1947=) c.7168A= (p.Ile2390=) c.5371A= (p.Ile1791=) | |
| 6 | g.7584430A>C | CA362692385 | DSP | c.5839A>C (p.Ile1947Leu) c.7168A>C (p.Ile2390Leu) c.5371A>C (p.Ile1791Leu) | |
| 6 | g.7584430A>G | CA362692386 | DSP | c.5839A>G (p.Ile1947Val) c.7168A>G (p.Ile2390Val) c.5371A>G (p.Ile1791Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584430A>T | CA362692387 | DSP | c.5839A>T (p.Ile1947Leu) c.7168A>T (p.Ile2390Leu) c.5371A>T (p.Ile1791Leu) | |
| 6 | g.7584431_7584432del | CA1085706702 | DSP | c.5840_5841del (p.Ile1947SerfsTer3) c.7169_7170del (p.Ile2390SerfsTer3) c.5372_5373del (p.Ile1791SerfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584431T>A | CA362692388 | DSP | c.5840T>A (p.Ile1947Lys) c.7169T>A (p.Ile2390Lys) c.5372T>A (p.Ile1791Lys) | |
| 6 | g.7584431T>C | CA133975782 | DSP | c.5840T>C (p.Ile1947Thr) c.7169T>C (p.Ile2390Thr) c.5372T>C (p.Ile1791Thr) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7584431T>G | CA362692389 | DSP | c.5840T>G (p.Ile1947Arg) c.7169T>G (p.Ile2390Arg) c.5372T>G (p.Ile1791Arg) | |
| 6 | g.7584431T= | CA1608611160 | DSP | c.5840T= (p.Ile1947=) c.7169T= (p.Ile2390=) c.5372T= (p.Ile1791=) | |
| 6 | g.7584432A>C | CA448716599 | DSP | c.5841A>C (p.Ile1947=) c.7170A>C (p.Ile2390=) c.5373A>C (p.Ile1791=) | |
| 6 | g.7584432A>G | CA362692390 | DSP | c.5841A>G (p.Ile1947Met) c.7170A>G (p.Ile2390Met) c.5373A>G (p.Ile1791Met) | gnomAD v4 |
| 6 | g.7584432A>T | CA448716601 | DSP | c.5841A>T (p.Ile1947=) c.7170A>T (p.Ile2390=) c.5373A>T (p.Ile1791=) | |
| 6 | g.7584433G>A | CA362692391 | DSP | c.5842G>A (p.Ala1948Thr) c.7171G>A (p.Ala2391Thr) c.5374G>A (p.Ala1792Thr) | |
| 6 | g.7584433G>C | CA362692392 | DSP | c.5842G>C (p.Ala1948Pro) c.7171G>C (p.Ala2391Pro) c.5374G>C (p.Ala1792Pro) | |
| 6 | g.7584433G>T | CA362692393 | DSP | c.5842G>T (p.Ala1948Ser) c.7171G>T (p.Ala2391Ser) c.5374G>T (p.Ala1792Ser) | COSMIC |
| 6 | g.7584434C>A | CA362692395 | DSP | c.5843C>A (p.Ala1948Glu) c.7172C>A (p.Ala2391Glu) c.5375C>A (p.Ala1792Glu) | |
| 6 | g.7584434C= | CA1608611164 | DSP | c.5843C= (p.Ala1948=) c.7172C= (p.Ala2391=) c.5375C= (p.Ala1792=) | |
| 6 | g.7584434C>G | CA362692394 | DSP | c.5843C>G (p.Ala1948Gly) c.7172C>G (p.Ala2391Gly) c.5375C>G (p.Ala1792Gly) | |
| 6 | g.7584434C>T | CA10584683 | DSP | c.5843C>T (p.Ala1948Val) c.7172C>T (p.Ala2391Val) c.5375C>T (p.Ala1792Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584435A= | CA1608611168 | DSP | c.5844A= (p.Ala1948=) c.7173A= (p.Ala2391=) c.5376A= (p.Ala1792=) | |
| 6 | g.7584435A>C | CA448716614 | DSP | c.5844A>C (p.Ala1948=) c.7173A>C (p.Ala2391=) c.5376A>C (p.Ala1792=) | |
| 6 | g.7584435A>G | CA448716616 | DSP | c.5844A>G (p.Ala1948=) c.7173A>G (p.Ala2391=) c.5376A>G (p.Ala1792=) | dbSNP gnomAD v4 |
| 6 | g.7584435A>T | CA448716617 | DSP | c.5844A>T (p.Ala1948=) c.7173A>T (p.Ala2391=) c.5376A>T (p.Ala1792=) | |
| 6 | g.7584436T>A | CA362692396 | DSP | c.5845T>A (p.Tyr1949Asn) c.7174T>A (p.Tyr2392Asn) c.5377T>A (p.Tyr1793Asn) | |
| 6 | g.7584436T>C | CA362692397 | DSP | c.5845T>C (p.Tyr1949His) c.7174T>C (p.Tyr2392His) c.5377T>C (p.Tyr1793His) | |
| 6 | g.7584436T>G | CA362692398 | DSP | c.5845T>G (p.Tyr1949Asp) c.7174T>G (p.Tyr2392Asp) c.5377T>G (p.Tyr1793Asp) | |
| 6 | g.7584437A>C | CA362692399 | DSP | c.5846A>C (p.Tyr1949Ser) c.7175A>C (p.Tyr2392Ser) c.5378A>C (p.Tyr1793Ser) | |
| 6 | g.7584437A>G | CA362692400 | DSP | c.5846A>G (p.Tyr1949Cys) c.7175A>G (p.Tyr2392Cys) c.5378A>G (p.Tyr1793Cys) | dbSNP |
| 6 | g.7584437A>T | CA362692401 | DSP | c.5846A>T (p.Tyr1949Phe) c.7175A>T (p.Tyr2392Phe) c.5378A>T (p.Tyr1793Phe) | |
| 6 | g.7584438T>A | CA362692402 | DSP | c.5847T>A (p.Tyr1949Ter) c.7176T>A (p.Tyr2392Ter) c.5379T>A (p.Tyr1793Ter) | |
| 6 | g.7584438T>C | CA448716628 | DSP | c.5847T>C (p.Tyr1949=) c.7176T>C (p.Tyr2392=) c.5379T>C (p.Tyr1793=) | |
| 6 | g.7584438T>G | CA362692403 | DSP | c.5847T>G (p.Tyr1949Ter) c.7176T>G (p.Tyr2392Ter) c.5379T>G (p.Tyr1793Ter) | |
| 6 | g.7584439A= | CA1608611175 | DSP | c.5848A= (p.Lys1950=) c.7177A= (p.Lys2393=) c.5380A= (p.Lys1794=) | |
| 6 | g.7584439A>C | CA049257 | DSP | c.5848A>C (p.Lys1950Gln) c.7177A>C (p.Lys2393Gln) c.5380A>C (p.Lys1794Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584439A>G | CA362692404 | DSP | c.5848A>G (p.Lys1950Glu) c.7177A>G (p.Lys2393Glu) c.5380A>G (p.Lys1794Glu) | |
| 6 | g.7584439A>T | CA362692405 | DSP | c.5848A>T (p.Lys1950Ter) c.7177A>T (p.Lys2393Ter) c.5380A>T (p.Lys1794Ter) | |
| 6 | g.7584440A>C | CA362692406 | DSP | c.5849A>C (p.Lys1950Thr) c.7178A>C (p.Lys2393Thr) c.5381A>C (p.Lys1794Thr) | |
| 6 | g.7584440A>G | CA362692408 | DSP | c.5849A>G (p.Lys1950Arg) c.7178A>G (p.Lys2393Arg) c.5381A>G (p.Lys1794Arg) | |
| 6 | g.7584440A>T | CA362692407 | DSP | c.5849A>T (p.Lys1950Met) c.7178A>T (p.Lys2393Met) c.5381A>T (p.Lys1794Met) | |
| 6 | g.7584442_7584443del | CA2573332575 | DSP | c.5851_5852del (p.Arg1951GlyfsTer5) c.7180_7181del (p.Arg2394GlyfsTer5) c.5383_5384del (p.Arg1795GlyfsTer5) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584441G>A | CA448716646 | DSP | c.5850G>A (p.Lys1950=) c.7179G>A (p.Lys2393=) c.5382G>A (p.Lys1794=) | |
| 6 | g.7584441G>C | CA362692409 | DSP | c.5850G>C (p.Lys1950Asn) c.7179G>C (p.Lys2393Asn) c.5382G>C (p.Lys1794Asn) | |
| 6 | g.7584441G= | CA1608611187 | DSP | c.5850G= (p.Lys1950=) c.7179G= (p.Lys2393=) c.5382G= (p.Lys1794=) | |
| 6 | g.7584441G>T | CA362692410 | DSP | c.5850G>T (p.Lys1950Asn) c.7179G>T (p.Lys2393Asn) c.5382G>T (p.Lys1794Asn) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584442A>C | CA448716649 | DSP | c.5851A>C (p.Arg1951=) c.7180A>C (p.Arg2394=) c.5383A>C (p.Arg1795=) | |
| 6 | g.7584442A>G | CA362692411 | DSP | c.5851A>G (p.Arg1951Gly) c.7180A>G (p.Arg2394Gly) c.5383A>G (p.Arg1795Gly) | |
| 6 | g.7584442A>T | CA362692412 | DSP | c.5851A>T (p.Arg1951Trp) c.7180A>T (p.Arg2394Trp) c.5383A>T (p.Arg1795Trp) | |
| 6 | g.7584443G>A | CA362692413 | DSP | c.5852G>A (p.Arg1951Lys) c.7181G>A (p.Arg2394Lys) c.5384G>A (p.Arg1795Lys) | |
| 6 | g.7584443G>C | CA362692415 | DSP | c.5852G>C (p.Arg1951Thr) c.7181G>C (p.Arg2394Thr) c.5384G>C (p.Arg1795Thr) | |
| 6 | g.7584443G>T | CA362692414 | DSP | c.5852G>T (p.Arg1951Met) c.7181G>T (p.Arg2394Met) c.5384G>T (p.Arg1795Met) | |
| 6 | g.7584444G>A | CA448716653 | DSP | c.5853G>A (p.Arg1951=) c.7182G>A (p.Arg2394=) c.5385G>A (p.Arg1795=) | |
| 6 | g.7584444G>C | CA362692416 | DSP | c.5853G>C (p.Arg1951Ser) c.7182G>C (p.Arg2394Ser) c.5385G>C (p.Arg1795Ser) | |
| 6 | g.7584444G>T | CA362692417 | DSP | c.5853G>T (p.Arg1951Ser) c.7182G>T (p.Arg2394Ser) c.5385G>T (p.Arg1795Ser) | |
| 6 | g.7584445G>A | CA362692418 | DSP | c.5854G>A (p.Gly1952Ser) c.7183G>A (p.Gly2395Ser) c.5386G>A (p.Gly1796Ser) | ClinVar COSMIC |
| 6 | g.7584445G>C | CA362692419 | DSP | c.5854G>C (p.Gly1952Arg) c.7183G>C (p.Gly2395Arg) c.5386G>C (p.Gly1796Arg) | |
| 6 | g.7584445G>T | CA362692420 | DSP | c.5854G>T (p.Gly1952Cys) c.7183G>T (p.Gly2395Cys) c.5386G>T (p.Gly1796Cys) | |
| 6 | g.7584446G>A | CA049268 | DSP | c.5855G>A (p.Gly1952Asp) c.7184G>A (p.Gly2395Asp) c.5387G>A (p.Gly1796Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584446G>C | CA362692421 | DSP | c.5855G>C (p.Gly1952Ala) c.7184G>C (p.Gly2395Ala) c.5387G>C (p.Gly1796Ala) | gnomAD v4 |
| 6 | g.7584446G= | CA1608611200 | DSP | c.5855G= (p.Gly1952=) c.7184G= (p.Gly2395=) c.5387G= (p.Gly1796=) | |
| 6 | g.7584446G>T | CA362692422 | DSP | c.5855G>T (p.Gly1952Val) c.7184G>T (p.Gly2395Val) c.5387G>T (p.Gly1796Val) | |
| 6 | g.7584447C>A | CA448716661 | DSP | c.5856C>A (p.Gly1952=) c.7185C>A (p.Gly2395=) c.5388C>A (p.Gly1796=) | |
| 6 | g.7584447C= | CA1608611218 | DSP | c.5856C= (p.Gly1952=) c.7185C= (p.Gly2395=) c.5388C= (p.Gly1796=) | |
| 6 | g.7584447C>G | CA448716662 | DSP | c.5856C>G (p.Gly1952=) c.7185C>G (p.Gly2395=) c.5388C>G (p.Gly1796=) | |
| 6 | g.7584447C>T | CA448716663 | DSP | c.5856C>T (p.Gly1952=) c.7185C>T (p.Gly2395=) c.5388C>T (p.Gly1796=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584448T>A | CA279613 | DSP | c.5857T>A (p.Tyr1953Asn) c.7186T>A (p.Tyr2396Asn) c.5389T>A (p.Tyr1797Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584448T>C | CA362692423 | DSP | c.5857T>C (p.Tyr1953His) c.7186T>C (p.Tyr2396His) c.5389T>C (p.Tyr1797His) | |
| 6 | g.7584448T>G | CA362692424 | DSP | c.5857T>G (p.Tyr1953Asp) c.7186T>G (p.Tyr2396Asp) c.5389T>G (p.Tyr1797Asp) | |
| 6 | g.7584448T= | CA1608611224 | DSP | c.5857T= (p.Tyr1953=) c.7186T= (p.Tyr2396=) c.5389T= (p.Tyr1797=) | |
| 6 | g.7584449A>C | CA362692425 | DSP | c.5858A>C (p.Tyr1953Ser) c.7187A>C (p.Tyr2396Ser) c.5390A>C (p.Tyr1797Ser) | |
| 6 | g.7584449A>G | CA362692426 | DSP | c.5858A>G (p.Tyr1953Cys) c.7187A>G (p.Tyr2396Cys) c.5390A>G (p.Tyr1797Cys) | gnomAD v4 |
| 6 | g.7584449A>T | CA362692427 | DSP | c.5858A>T (p.Tyr1953Phe) c.7187A>T (p.Tyr2396Phe) c.5390A>T (p.Tyr1797Phe) | |
| 6 | g.7584450T>A | CA362692428 | DSP | c.5859T>A (p.Tyr1953Ter) c.7188T>A (p.Tyr2396Ter) c.5391T>A (p.Tyr1797Ter) | |
| 6 | g.7584450T>C | CA448716668 | DSP | c.5859T>C (p.Tyr1953=) c.7188T>C (p.Tyr2396=) c.5391T>C (p.Tyr1797=) | |
| 6 | g.7584450T>G | CA362692429 | DSP | c.5859T>G (p.Tyr1953Ter) c.7188T>G (p.Tyr2396Ter) c.5391T>G (p.Tyr1797Ter) | |
| 6 | g.7584451T>A | CA362692430 | DSP | c.5860T>A (p.Phe1954Ile) c.7189T>A (p.Phe2397Ile) c.5392T>A (p.Phe1798Ile) | |
| 6 | g.7584451T>C | CA362692431 | DSP | c.5860T>C (p.Phe1954Leu) c.7189T>C (p.Phe2397Leu) c.5392T>C (p.Phe1798Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584451T>G | CA362692432 | DSP | c.5860T>G (p.Phe1954Val) c.7189T>G (p.Phe2397Val) c.5392T>G (p.Phe1798Val) | |
| 6 | g.7584451T= | CA1608611231 | DSP | c.5860T= (p.Phe1954=) c.7189T= (p.Phe2397=) c.5392T= (p.Phe1798=) | |
| 6 | g.7584452T>A | CA362692433 | DSP | c.5861T>A (p.Phe1954Tyr) c.7190T>A (p.Phe2397Tyr) c.5393T>A (p.Phe1798Tyr) | |
| 6 | g.7584452T>C | CA362692434 | DSP | c.5861T>C (p.Phe1954Ser) c.7190T>C (p.Phe2397Ser) c.5393T>C (p.Phe1798Ser) | |
| 6 | g.7584452T>G | CA362692435 | DSP | c.5861T>G (p.Phe1954Cys) c.7190T>G (p.Phe2397Cys) c.5393T>G (p.Phe1798Cys) | |
| 6 | g.7584453C>A | CA362692436 | DSP | c.5862C>A (p.Phe1954Leu) c.7191C>A (p.Phe2397Leu) c.5394C>A (p.Phe1798Leu) | |
| 6 | g.7584453C= | CA1608611235 | DSP | c.5862C= (p.Phe1954=) c.7191C= (p.Phe2397=) c.5394C= (p.Phe1798=) | |
| 6 | g.7584453C>G | CA362692437 | DSP | c.5862C>G (p.Phe1954Leu) c.7191C>G (p.Phe2397Leu) c.5394C>G (p.Phe1798Leu) | |
| 6 | g.7584453C>T | CA049278 | DSP | c.5862C>T (p.Phe1954=) c.7191C>T (p.Phe2397=) c.5394C>T (p.Phe1798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584454A>C | CA362692438 | DSP | c.5863A>C (p.Asn1955His) c.7192A>C (p.Asn2398His) c.5395A>C (p.Asn1799His) | |
| 6 | g.7584454A>G | CA362692439 | DSP | c.5863A>G (p.Asn1955Asp) c.7192A>G (p.Asn2398Asp) c.5395A>G (p.Asn1799Asp) | gnomAD v4 |
| 6 | g.7584454A>T | CA362692440 | DSP | c.5863A>T (p.Asn1955Tyr) c.7192A>T (p.Asn2398Tyr) c.5395A>T (p.Asn1799Tyr) | |
| 6 | g.7584455A= | CA1608611248 | DSP | c.5864A= (p.Asn1955=) c.7193A= (p.Asn2398=) c.5396A= (p.Asn1799=) | |
| 6 | g.7584455A>C | CA362692441 | DSP | c.5864A>C (p.Asn1955Thr) c.7193A>C (p.Asn2398Thr) c.5396A>C (p.Asn1799Thr) | |
| 6 | g.7584455A>G | CA362692443 | DSP | c.5864A>G (p.Asn1955Ser) c.7193A>G (p.Asn2398Ser) c.5396A>G (p.Asn1799Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584455A>T | CA362692442 | DSP | c.5864A>T (p.Asn1955Ile) c.7193A>T (p.Asn2398Ile) c.5396A>T (p.Asn1799Ile) | gnomAD v4 |
| 6 | g.7584456T>A | CA362692444 | DSP | c.5865T>A (p.Asn1955Lys) c.7194T>A (p.Asn2398Lys) c.5397T>A (p.Asn1799Lys) | |
| 6 | g.7584456T>C | CA448716681 | DSP | c.5865T>C (p.Asn1955=) c.7194T>C (p.Asn2398=) c.5397T>C (p.Asn1799=) | dbSNP |
| 6 | g.7584456T>G | CA362692445 | DSP | c.5865T>G (p.Asn1955Lys) c.7194T>G (p.Asn2398Lys) c.5397T>G (p.Asn1799Lys) | |
| 6 | g.7584457G>A | CA362692446 | DSP | c.5866G>A (p.Glu1956Lys) c.7195G>A (p.Glu2399Lys) c.5398G>A (p.Glu1800Lys) | |
| 6 | g.7584457G>C | CA362692447 | DSP | c.5866G>C (p.Glu1956Gln) c.7195G>C (p.Glu2399Gln) c.5398G>C (p.Glu1800Gln) | |
| 6 | g.7584457G>T | CA362692448 | DSP | c.5866G>T (p.Glu1956Ter) c.7195G>T (p.Glu2399Ter) c.5398G>T (p.Glu1800Ter) | |
| 6 | g.7584458A>C | CA362692449 | DSP | c.5867A>C (p.Glu1956Ala) c.7196A>C (p.Glu2399Ala) c.5399A>C (p.Glu1800Ala) | |
| 6 | g.7584458A>G | CA362692450 | DSP | c.5867A>G (p.Glu1956Gly) c.7196A>G (p.Glu2399Gly) c.5399A>G (p.Glu1800Gly) | ClinVar dbSNP |
| 6 | g.7584458A>T | CA362692451 | DSP | c.5867A>T (p.Glu1956Val) c.7196A>T (p.Glu2399Val) c.5399A>T (p.Glu1800Val) | |
| 6 | g.7584459G>A | CA049287 | DSP | c.5868G>A (p.Glu1956=) c.7197G>A (p.Glu2399=) c.5400G>A (p.Glu1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584459G>C | CA362692452 | DSP | c.5868G>C (p.Glu1956Asp) c.7197G>C (p.Glu2399Asp) c.5400G>C (p.Glu1800Asp) | |
| 6 | g.7584459G= | CA1608611255 | DSP | c.5868G= (p.Glu1956=) c.7197G= (p.Glu2399=) c.5400G= (p.Glu1800=) | |
| 6 | g.7584459G>T | CA362692453 | DSP | c.5868G>T (p.Glu1956Asp) c.7197G>T (p.Glu2399Asp) c.5400G>T (p.Glu1800Asp) | |
| 6 | g.7584460G>A | CA362692456 | DSP | c.5869G>A (p.Glu1957Lys) c.7198G>A (p.Glu2400Lys) c.5401G>A (p.Glu1801Lys) | dbSNP |
| 6 | g.7584460G>C | CA362692455 | DSP | c.5869G>C (p.Glu1957Gln) c.7198G>C (p.Glu2400Gln) c.5401G>C (p.Glu1801Gln) | |
| 6 | g.7584460G= | CA1608611262 | DSP | c.5869G= (p.Glu1957=) c.7198G= (p.Glu2400=) c.5401G= (p.Glu1801=) | |
| 6 | g.7584460G>T | CA362692454 | DSP | c.5869G>T (p.Glu1957Ter) c.7198G>T (p.Glu2400Ter) c.5401G>T (p.Glu1801Ter) | |
| 6 | g.7584461A>C | CA362692457 | DSP | c.5870A>C (p.Glu1957Ala) c.7199A>C (p.Glu2400Ala) c.5402A>C (p.Glu1801Ala) | |
| 6 | g.7584461A>G | CA362692458 | DSP | c.5870A>G (p.Glu1957Gly) c.7199A>G (p.Glu2400Gly) c.5402A>G (p.Glu1801Gly) | |
| 6 | g.7584461A>T | CA362692459 | DSP | c.5870A>T (p.Glu1957Val) c.7199A>T (p.Glu2400Val) c.5402A>T (p.Glu1801Val) | |
| 6 | g.7584462A= | CA1608611265 | DSP | c.5871A= (p.Glu1957=) c.7200A= (p.Glu2400=) c.5403A= (p.Glu1801=) | |
| 6 | g.7584462A>C | CA362692460 | DSP | c.5871A>C (p.Glu1957Asp) c.7200A>C (p.Glu2400Asp) c.5403A>C (p.Glu1801Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584462A>G | CA448716276 | DSP | c.5871A>G (p.Glu1957=) c.7200A>G (p.Glu2400=) c.5403A>G (p.Glu1801=) | |
| 6 | g.7584462A>T | CA362692461 | DSP | c.5871A>T (p.Glu1957Asp) c.7200A>T (p.Glu2400Asp) c.5403A>T (p.Glu1801Asp) | |
| 6 | g.7584463C>A | CA362692462 | DSP | c.5872C>A (p.Leu1958Ile) c.7201C>A (p.Leu2401Ile) c.5404C>A (p.Leu1802Ile) | |
| 6 | g.7584463C>G | CA362692463 | DSP | c.5872C>G (p.Leu1958Val) c.7201C>G (p.Leu2401Val) c.5404C>G (p.Leu1802Val) | |
| 6 | g.7584463C>T | CA362692464 | DSP | c.5872C>T (p.Leu1958Phe) c.7201C>T (p.Leu2401Phe) c.5404C>T (p.Leu1802Phe) | |
| 6 | g.7584464T>A | CA362692465 | DSP | c.5873T>A (p.Leu1958His) c.7202T>A (p.Leu2401His) c.5405T>A (p.Leu1802His) | |
| 6 | g.7584464T>C | CA362692466 | DSP | c.5873T>C (p.Leu1958Pro) c.7202T>C (p.Leu2401Pro) c.5405T>C (p.Leu1802Pro) | |
| 6 | g.7584464T>G | CA362692467 | DSP | c.5873T>G (p.Leu1958Arg) c.7202T>G (p.Leu2401Arg) c.5405T>G (p.Leu1802Arg) | |
| 6 | g.7584465C>A | CA448716293 | DSP | c.5874C>A (p.Leu1958=) c.7203C>A (p.Leu2401=) c.5406C>A (p.Leu1802=) | |
| 6 | g.7584465C>G | CA448716287 | DSP | c.5874C>G (p.Leu1958=) c.7203C>G (p.Leu2401=) c.5406C>G (p.Leu1802=) | |
| 6 | g.7584465C>T | CA448716290 | DSP | c.5874C>T (p.Leu1958=) c.7203C>T (p.Leu2401=) c.5406C>T (p.Leu1802=) |