| 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.7584407_7584423del | CA2677219518 | DSP | c.5816_5832del (p.Glu1939GlyfsTer2) c.7145_7161del (p.Glu2382GlyfsTer2) c.5348_5364del (p.Glu1783GlyfsTer2) | 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.7584439_7584440del | CA2825001487 | DSP | c.5848_5849del (p.Lys1950GlufsTer6) c.7177_7178del (p.Lys2393GlufsTer6) c.5380_5381del (p.Lys1794GlufsTer6) | ClinVar |
| 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) | ClinVar |
| 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=) | |
| 6 | g.7584466A>C | CA362692470 | DSP | c.5875A>C (p.Ser1959Arg) c.7204A>C (p.Ser2402Arg) c.5407A>C (p.Ser1803Arg) | |
| 6 | g.7584466A>G | CA362692469 | DSP | c.5875A>G (p.Ser1959Gly) c.7204A>G (p.Ser2402Gly) c.5407A>G (p.Ser1803Gly) | ClinVar gnomAD v4 |
| 6 | g.7584466A>T | CA362692468 | DSP | c.5875A>T (p.Ser1959Cys) c.7204A>T (p.Ser2402Cys) c.5407A>T (p.Ser1803Cys) | |
| 6 | g.7584467G>A | CA362692471 | DSP | c.5876G>A (p.Ser1959Asn) c.7205G>A (p.Ser2402Asn) c.5408G>A (p.Ser1803Asn) | dbSNP |
| 6 | g.7584467G>C | CA362692473 | DSP | c.5876G>C (p.Ser1959Thr) c.7205G>C (p.Ser2402Thr) c.5408G>C (p.Ser1803Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584467G= | CA1608611270 | DSP | c.5876G= (p.Ser1959=) c.7205G= (p.Ser2402=) c.5408G= (p.Ser1803=) | |
| 6 | g.7584467G>T | CA362692472 | DSP | c.5876G>T (p.Ser1959Ile) c.7205G>T (p.Ser2402Ile) c.5408G>T (p.Ser1803Ile) | |
| 6 | g.7584468T>A | CA362692474 | DSP | c.5877T>A (p.Ser1959Arg) c.7206T>A (p.Ser2402Arg) c.5409T>A (p.Ser1803Arg) | |
| 6 | g.7584468T>C | CA448716304 | DSP | c.5877T>C (p.Ser1959=) c.7206T>C (p.Ser2402=) c.5409T>C (p.Ser1803=) | |
| 6 | g.7584468T>G | CA362692475 | DSP | c.5877T>G (p.Ser1959Arg) c.7206T>G (p.Ser2402Arg) c.5409T>G (p.Ser1803Arg) | |
| 6 | g.7584469G>A | CA362692476 | DSP | c.5878G>A (p.Glu1960Lys) c.7207G>A (p.Glu2403Lys) c.5410G>A (p.Glu1804Lys) | |
| 6 | g.7584469G>C | CA362692477 | DSP | c.5878G>C (p.Glu1960Gln) c.7207G>C (p.Glu2403Gln) c.5410G>C (p.Glu1804Gln) | gnomAD v4 |
| 6 | g.7584469G>T | CA362692478 | DSP | c.5878G>T (p.Glu1960Ter) c.7207G>T (p.Glu2403Ter) c.5410G>T (p.Glu1804Ter) | |
| 6 | g.7584470A>C | CA362692479 | DSP | c.5879A>C (p.Glu1960Ala) c.7208A>C (p.Glu2403Ala) c.5411A>C (p.Glu1804Ala) | |
| 6 | g.7584470A>G | CA362692480 | DSP | c.5879A>G (p.Glu1960Gly) c.7208A>G (p.Glu2403Gly) c.5411A>G (p.Glu1804Gly) | |
| 6 | g.7584470A>T | CA362692481 | DSP | c.5879A>T (p.Glu1960Val) c.7208A>T (p.Glu2403Val) c.5411A>T (p.Glu1804Val) | |
| 6 | g.7584471G>A | CA448716310 | DSP | c.5880G>A (p.Glu1960=) c.7209G>A (p.Glu2403=) c.5412G>A (p.Glu1804=) | |
| 6 | g.7584471G>C | CA362692482 | DSP | c.5880G>C (p.Glu1960Asp) c.7209G>C (p.Glu2403Asp) c.5412G>C (p.Glu1804Asp) | |
| 6 | g.7584471G>T | CA362692483 | DSP | c.5880G>T (p.Glu1960Asp) c.7209G>T (p.Glu2403Asp) c.5412G>T (p.Glu1804Asp) | |
| 6 | g.7584472A>C | CA362692486 | DSP | c.5881A>C (p.Ile1961Leu) c.7210A>C (p.Ile2404Leu) c.5413A>C (p.Ile1805Leu) | |
| 6 | g.7584472A>G | CA362692485 | DSP | c.5881A>G (p.Ile1961Val) c.7210A>G (p.Ile2404Val) c.5413A>G (p.Ile1805Val) | |
| 6 | g.7584472A>T | CA362692484 | DSP | c.5881A>T (p.Ile1961Phe) c.7210A>T (p.Ile2404Phe) c.5413A>T (p.Ile1805Phe) | |
| 6 | g.7584473T>A | CA362692487 | DSP | c.5882T>A (p.Ile1961Asn) c.7211T>A (p.Ile2404Asn) c.5414T>A (p.Ile1805Asn) | |
| 6 | g.7584473T>C | CA362692488 | DSP | c.5882T>C (p.Ile1961Thr) c.7211T>C (p.Ile2404Thr) c.5414T>C (p.Ile1805Thr) | |
| 6 | g.7584473T>G | CA362692489 | DSP | c.5882T>G (p.Ile1961Ser) c.7211T>G (p.Ile2404Ser) c.5414T>G (p.Ile1805Ser) | |
| 6 | g.7584474T>A | CA448716319 | DSP | c.5883T>A (p.Ile1961=) c.7212T>A (p.Ile2404=) c.5415T>A (p.Ile1805=) | |
| 6 | g.7584474T>C | CA448716320 | DSP | c.5883T>C (p.Ile1961=) c.7212T>C (p.Ile2404=) c.5415T>C (p.Ile1805=) | gnomAD v4 |
| 6 | g.7584474T>G | CA362692490 | DSP | c.5883T>G (p.Ile1961Met) c.7212T>G (p.Ile2404Met) c.5415T>G (p.Ile1805Met) | |
| 6 | g.7584476_7584479del | CA2740094264 | DSP | c.5885_5888del (p.Leu1962GlnfsTer24) c.7214_7217del (p.Leu2405GlnfsTer24) c.5417_5420del (p.Leu1806GlnfsTer24) | ClinVar |
| 6 | g.7584475C>A | CA049300 | DSP | c.5884C>A (p.Leu1962Ile) c.7213C>A (p.Leu2405Ile) c.5416C>A (p.Leu1806Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584475C= | CA1608611277 | DSP | c.5884C= (p.Leu1962=) c.7213C= (p.Leu2405=) c.5416C= (p.Leu1806=) | |
| 6 | g.7584475C>G | CA362692491 | DSP | c.5884C>G (p.Leu1962Val) c.7213C>G (p.Leu2405Val) c.5416C>G (p.Leu1806Val) | |
| 6 | g.7584475C>T | CA362692492 | DSP | c.5884C>T (p.Leu1962Phe) c.7213C>T (p.Leu2405Phe) c.5416C>T (p.Leu1806Phe) | ClinVar dbSNP |
| 6 | g.7584476T>A | CA362692493 | DSP | c.5885T>A (p.Leu1962His) c.7214T>A (p.Leu2405His) c.5417T>A (p.Leu1806His) | |
| 6 | g.7584476T>C | CA362692494 | DSP | c.5885T>C (p.Leu1962Pro) c.7214T>C (p.Leu2405Pro) c.5417T>C (p.Leu1806Pro) | |
| 6 | g.7584476T>G | CA362692495 | DSP | c.5885T>G (p.Leu1962Arg) c.7214T>G (p.Leu2405Arg) c.5417T>G (p.Leu1806Arg) | |
| 6 | g.7584477C>A | CA448716333 | DSP | c.5886C>A (p.Leu1962=) c.7215C>A (p.Leu2405=) c.5418C>A (p.Leu1806=) | |
| 6 | g.7584477C= | CA1608611286 | DSP | c.5886C= (p.Leu1962=) c.7215C= (p.Leu2405=) c.5418C= (p.Leu1806=) | |
| 6 | g.7584477C>G | CA448716334 | DSP | c.5886C>G (p.Leu1962=) c.7215C>G (p.Leu2405=) c.5418C>G (p.Leu1806=) | dbSNP gnomAD v4 |
| 6 | g.7584477C>T | CA049312 | DSP | c.5886C>T (p.Leu1962=) c.7215C>T (p.Leu2405=) c.5418C>T (p.Leu1806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584478T>A | CA362692497 | DSP | c.5887T>A (p.Ser1963Thr) c.7216T>A (p.Ser2406Thr) c.5419T>A (p.Ser1807Thr) | |
| 6 | g.7584478T>C | CA362692498 | DSP | c.5887T>C (p.Ser1963Pro) c.7216T>C (p.Ser2406Pro) c.5419T>C (p.Ser1807Pro) | |
| 6 | g.7584478T>G | CA362692496 | DSP | c.5887T>G (p.Ser1963Ala) c.7216T>G (p.Ser2406Ala) c.5419T>G (p.Ser1807Ala) | gnomAD v4 |
| 6 | g.7584479C>A | CA362692499 | DSP | c.5888C>A (p.Ser1963Ter) c.7217C>A (p.Ser2406Ter) c.5420C>A (p.Ser1807Ter) | |
| 6 | g.7584479C>G | CA362692500 | DSP | c.5888C>G (p.Ser1963Ter) c.7217C>G (p.Ser2406Ter) c.5420C>G (p.Ser1807Ter) | ClinVar dbSNP |
| 6 | g.7584479C>T | CA362692501 | DSP | c.5888C>T (p.Ser1963Leu) c.7217C>T (p.Ser2406Leu) c.5420C>T (p.Ser1807Leu) | |
| 6 | g.7584480A= | CA1608611290 | DSP | c.5889A= (p.Ser1963=) c.7218A= (p.Ser2406=) c.5421A= (p.Ser1807=) | |
| 6 | g.7584480A>C | CA448716338 | DSP | c.5889A>C (p.Ser1963=) c.7218A>C (p.Ser2406=) c.5421A>C (p.Ser1807=) | dbSNP |
| 6 | g.7584480A>G | CA448716341 | DSP | c.5889A>G (p.Ser1963=) c.7218A>G (p.Ser2406=) c.5421A>G (p.Ser1807=) | |
| 6 | g.7584480A>T | CA448716342 | DSP | c.5889A>T (p.Ser1963=) c.7218A>T (p.Ser2406=) c.5421A>T (p.Ser1807=) | |
| 6 | g.7584481G>A | CA362692502 | DSP | c.5890G>A (p.Asp1964Asn) c.7219G>A (p.Asp2407Asn) c.5422G>A (p.Asp1808Asn) | |
| 6 | g.7584481G>C | CA362692503 | DSP | c.5890G>C (p.Asp1964His) c.7219G>C (p.Asp2407His) c.5422G>C (p.Asp1808His) | |
| 6 | g.7584481G>T | CA362692504 | DSP | c.5890G>T (p.Asp1964Tyr) c.7219G>T (p.Asp2407Tyr) c.5422G>T (p.Asp1808Tyr) | COSMIC |
| 6 | g.7584482A>C | CA362692507 | DSP | c.5891A>C (p.Asp1964Ala) c.7220A>C (p.Asp2407Ala) c.5423A>C (p.Asp1808Ala) | |
| 6 | g.7584482A>G | CA362692505 | DSP | c.5891A>G (p.Asp1964Gly) c.7220A>G (p.Asp2407Gly) c.5423A>G (p.Asp1808Gly) | |
| 6 | g.7584482A>T | CA362692506 | DSP | c.5891A>T (p.Asp1964Val) c.7220A>T (p.Asp2407Val) c.5423A>T (p.Asp1808Val) | gnomAD v4 |
| 6 | g.7584483T>A | CA362692508 | DSP | c.5892T>A (p.Asp1964Glu) c.7221T>A (p.Asp2407Glu) c.5424T>A (p.Asp1808Glu) | |
| 6 | g.7584483T>C | CA448716352 | DSP | c.5892T>C (p.Asp1964=) c.7221T>C (p.Asp2407=) c.5424T>C (p.Asp1808=) | |
| 6 | g.7584483T>G | CA362692509 | DSP | c.5892T>G (p.Asp1964Glu) c.7221T>G (p.Asp2407Glu) c.5424T>G (p.Asp1808Glu) | |
| 6 | g.7584484C>A | CA362692510 | DSP | c.5893C>A (p.Pro1965Thr) c.7222C>A (p.Pro2408Thr) c.5425C>A (p.Pro1809Thr) | |
| 6 | g.7584484C>G | CA362692511 | DSP | c.5893C>G (p.Pro1965Ala) c.7222C>G (p.Pro2408Ala) c.5425C>G (p.Pro1809Ala) | |
| 6 | g.7584484C>T | CA362692512 | DSP | c.5893C>T (p.Pro1965Ser) c.7222C>T (p.Pro2408Ser) c.5425C>T (p.Pro1809Ser) | |
| 6 | g.7584485C>A | CA362692513 | DSP | c.5894C>A (p.Pro1965Gln) c.7223C>A (p.Pro2408Gln) c.5426C>A (p.Pro1809Gln) | ClinVar dbSNP |
| 6 | g.7584485C>G | CA362692515 | DSP | c.5894C>G (p.Pro1965Arg) c.7223C>G (p.Pro2408Arg) c.5426C>G (p.Pro1809Arg) | |
| 6 | g.7584485C>T | CA362692514 | DSP | c.5894C>T (p.Pro1965Leu) c.7223C>T (p.Pro2408Leu) c.5426C>T (p.Pro1809Leu) | gnomAD v4 |
| 6 | g.7584486A= | CA1608611294 | DSP | c.5895A= (p.Pro1965=) c.7224A= (p.Pro2408=) c.5427A= (p.Pro1809=) | |
| 6 | g.7584486A>C | CA049330 | DSP | c.5895A>C (p.Pro1965=) c.7224A>C (p.Pro2408=) c.5427A>C (p.Pro1809=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584486A>G | CA448716364 | DSP | c.5895A>G (p.Pro1965=) c.7224A>G (p.Pro2408=) c.5427A>G (p.Pro1809=) | |
| 6 | g.7584486A>T | CA448716365 | DSP | c.5895A>T (p.Pro1965=) c.7224A>T (p.Pro2408=) c.5427A>T (p.Pro1809=) | |
| 6 | g.7584487A>C | CA362692516 | DSP | c.5896A>C (p.Ser1966Arg) c.7225A>C (p.Ser2409Arg) c.5428A>C (p.Ser1810Arg) | |
| 6 | g.7584487A>G | CA362692517 | DSP | c.5896A>G (p.Ser1966Gly) c.7225A>G (p.Ser2409Gly) c.5428A>G (p.Ser1810Gly) | |
| 6 | g.7584487A>T | CA362692518 | DSP | c.5896A>T (p.Ser1966Cys) c.7225A>T (p.Ser2409Cys) c.5428A>T (p.Ser1810Cys) | |
| 6 | g.7584488G>A | CA362692519 | DSP | c.5897G>A (p.Ser1966Asn) c.7226G>A (p.Ser2409Asn) c.5429G>A (p.Ser1810Asn) | |
| 6 | g.7584488G>C | CA362692520 | DSP | c.5897G>C (p.Ser1966Thr) c.7226G>C (p.Ser2409Thr) c.5429G>C (p.Ser1810Thr) | |
| 6 | g.7584488G>T | CA362692521 | DSP | c.5897G>T (p.Ser1966Ile) c.7226G>T (p.Ser2409Ile) c.5429G>T (p.Ser1810Ile) | |
| 6 | g.7584489T>A | CA362692522 | DSP | c.5898T>A (p.Ser1966Arg) c.7227T>A (p.Ser2409Arg) c.5430T>A (p.Ser1810Arg) | |
| 6 | g.7584489T>C | CA448716368 | DSP | c.5898T>C (p.Ser1966=) c.7227T>C (p.Ser2409=) c.5430T>C (p.Ser1810=) | |
| 6 | g.7584489T>G | CA362692523 | DSP | c.5898T>G (p.Ser1966Arg) c.7227T>G (p.Ser2409Arg) c.5430T>G (p.Ser1810Arg) | |
| 6 | g.7584490G>A | CA362692524 | DSP | c.5899G>A (p.Asp1967Asn) c.7228G>A (p.Asp2410Asn) c.5431G>A (p.Asp1811Asn) | |
| 6 | g.7584490G>C | CA362692525 | DSP | c.5899G>C (p.Asp1967His) c.7228G>C (p.Asp2410His) c.5431G>C (p.Asp1811His) | |
| 6 | g.7584490G>T | CA362692526 | DSP | c.5899G>T (p.Asp1967Tyr) c.7228G>T (p.Asp2410Tyr) c.5431G>T (p.Asp1811Tyr) | |
| 6 | g.7584491A= | CA1608611302 | DSP | c.5900A= (p.Asp1967=) c.7229A= (p.Asp2410=) c.5432A= (p.Asp1811=) | |
| 6 | g.7584491A>C | CA362692528 | DSP | c.5900A>C (p.Asp1967Ala) c.7229A>C (p.Asp2410Ala) c.5432A>C (p.Asp1811Ala) | |
| 6 | g.7584491A>G | CA362692529 | DSP | c.5900A>G (p.Asp1967Gly) c.7229A>G (p.Asp2410Gly) c.5432A>G (p.Asp1811Gly) | ClinVar dbSNP |
| 6 | g.7584491A>T | CA362692527 | DSP | c.5900A>T (p.Asp1967Val) c.7229A>T (p.Asp2410Val) c.5432A>T (p.Asp1811Val) | |
| 6 | g.7584492T>A | CA362692531 | DSP | c.5901T>A (p.Asp1967Glu) c.7230T>A (p.Asp2410Glu) c.5433T>A (p.Asp1811Glu) | |
| 6 | g.7584492T>C | CA448716378 | DSP | c.5901T>C (p.Asp1967=) c.7230T>C (p.Asp2410=) c.5433T>C (p.Asp1811=) | |
| 6 | g.7584492T>G | CA362692530 | DSP | c.5901T>G (p.Asp1967Glu) c.7230T>G (p.Asp2410Glu) c.5433T>G (p.Asp1811Glu) | |
| 6 | g.7584493G>A | CA362692534 | DSP | c.5902G>A (p.Asp1968Asn) c.7231G>A (p.Asp2411Asn) c.5434G>A (p.Asp1812Asn) | gnomAD v4 |
| 6 | g.7584493G>C | CA362692532 | DSP | c.5902G>C (p.Asp1968His) c.7231G>C (p.Asp2411His) c.5434G>C (p.Asp1812His) | |
| 6 | g.7584493G>T | CA362692533 | DSP | c.5902G>T (p.Asp1968Tyr) c.7231G>T (p.Asp2411Tyr) c.5434G>T (p.Asp1812Tyr) | |
| 6 | g.7584494A>C | CA362692535 | DSP | c.5903A>C (p.Asp1968Ala) c.7232A>C (p.Asp2411Ala) c.5435A>C (p.Asp1812Ala) | |
| 6 | g.7584494A>G | CA362692536 | DSP | c.5903A>G (p.Asp1968Gly) c.7232A>G (p.Asp2411Gly) c.5435A>G (p.Asp1812Gly) | |
| 6 | g.7584494A>T | CA362692537 | DSP | c.5903A>T (p.Asp1968Val) c.7232A>T (p.Asp2411Val) c.5435A>T (p.Asp1812Val) | |
| 6 | g.7584495T>A | CA362692538 | DSP | c.5904T>A (p.Asp1968Glu) c.7233T>A (p.Asp2411Glu) c.5436T>A (p.Asp1812Glu) | |
| 6 | g.7584495T>C | CA448716387 | DSP | c.5904T>C (p.Asp1968=) c.7233T>C (p.Asp2411=) c.5436T>C (p.Asp1812=) | gnomAD v4 |
| 6 | g.7584495T>G | CA362692539 | DSP | c.5904T>G (p.Asp1968Glu) c.7233T>G (p.Asp2411Glu) c.5436T>G (p.Asp1812Glu) | |
| 6 | g.7584496A>C | CA362692540 | DSP | c.5905A>C (p.Thr1969Pro) c.7234A>C (p.Thr2412Pro) c.5437A>C (p.Thr1813Pro) | |
| 6 | g.7584496A>G | CA362692541 | DSP | c.5905A>G (p.Thr1969Ala) c.7234A>G (p.Thr2412Ala) c.5437A>G (p.Thr1813Ala) | gnomAD v4 |
| 6 | g.7584496A>T | CA362692542 | DSP | c.5905A>T (p.Thr1969Ser) c.7234A>T (p.Thr2412Ser) c.5437A>T (p.Thr1813Ser) | |
| 6 | g.7584497C>A | CA049338 | DSP | c.5906C>A (p.Thr1969Asn) c.7235C>A (p.Thr2412Asn) c.5438C>A (p.Thr1813Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584497C= | CA1608611304 | DSP | c.5906C= (p.Thr1969=) c.7235C= (p.Thr2412=) c.5438C= (p.Thr1813=) | |
| 6 | g.7584497C>G | CA362692543 | DSP | c.5906C>G (p.Thr1969Ser) c.7235C>G (p.Thr2412Ser) c.5438C>G (p.Thr1813Ser) | |
| 6 | g.7584497C>T | CA362692544 | DSP | c.5906C>T (p.Thr1969Ile) c.7235C>T (p.Thr2412Ile) c.5438C>T (p.Thr1813Ile) | |
| 6 | g.7584498C>A | CA448716398 | DSP | c.5907C>A (p.Thr1969=) c.7236C>A (p.Thr2412=) c.5439C>A (p.Thr1813=) | |
| 6 | g.7584498C= | CA1608611315 | DSP | c.5907C= (p.Thr1969=) c.7236C= (p.Thr2412=) c.5439C= (p.Thr1813=) | |
| 6 | g.7584498C>G | CA448716399 | DSP | c.5907C>G (p.Thr1969=) c.7236C>G (p.Thr2412=) c.5439C>G (p.Thr1813=) | |
| 6 | g.7584498C>T | CA448716401 | DSP | c.5907C>T (p.Thr1969=) c.7236C>T (p.Thr2412=) c.5439C>T (p.Thr1813=) | dbSNP gnomAD v2 |
| 6 | g.7584499A>C | CA362692547 | DSP | c.5908A>C (p.Lys1970Gln) c.7237A>C (p.Lys2413Gln) c.5440A>C (p.Lys1814Gln) | |
| 6 | g.7584499A>G | CA362692545 | DSP | c.5908A>G (p.Lys1970Glu) c.7237A>G (p.Lys2413Glu) c.5440A>G (p.Lys1814Glu) | gnomAD v4 |
| 6 | g.7584499A>T | CA362692546 | DSP | c.5908A>T (p.Lys1970Ter) c.7237A>T (p.Lys2413Ter) c.5440A>T (p.Lys1814Ter) | |
| 6 | g.7584500A>C | CA362692548 | DSP | c.5909A>C (p.Lys1970Thr) c.7238A>C (p.Lys2413Thr) c.5441A>C (p.Lys1814Thr) | |
| 6 | g.7584500A>G | CA362692549 | DSP | c.5909A>G (p.Lys1970Arg) c.7238A>G (p.Lys2413Arg) c.5441A>G (p.Lys1814Arg) | gnomAD v4 |
| 6 | g.7584500A>T | CA362692550 | DSP | c.5909A>T (p.Lys1970Ile) c.7238A>T (p.Lys2413Ile) c.5441A>T (p.Lys1814Ile) | |
| 6 | g.7584501A>C | CA362692551 | DSP | c.5910A>C (p.Lys1970Asn) c.7239A>C (p.Lys2413Asn) c.5442A>C (p.Lys1814Asn) | |
| 6 | g.7584501A>G | CA448716410 | DSP | c.5910A>G (p.Lys1970=) c.7239A>G (p.Lys2413=) c.5442A>G (p.Lys1814=) | |
| 6 | g.7584501A>T | CA362692552 | DSP | c.5910A>T (p.Lys1970Asn) c.7239A>T (p.Lys2413Asn) c.5442A>T (p.Lys1814Asn) | |
| 6 | g.7584502G>A | CA362692553 | DSP | c.5911G>A (p.Gly1971Arg) c.7240G>A (p.Gly2414Arg) c.5443G>A (p.Gly1815Arg) | |
| 6 | g.7584502G>C | CA362692554 | DSP | c.5911G>C (p.Gly1971Arg) c.7240G>C (p.Gly2414Arg) c.5443G>C (p.Gly1815Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584502G= | CA1608611323 | DSP | c.5911G= (p.Gly1971=) c.7240G= (p.Gly2414=) c.5443G= (p.Gly1815=) | |
| 6 | g.7584502G>T | CA362692555 | DSP | c.5911G>T (p.Gly1971Ter) c.7240G>T (p.Gly2414Ter) c.5443G>T (p.Gly1815Ter) | ClinVar dbSNP |
| 6 | g.7584503G>A | CA362692556 | DSP | c.5912G>A (p.Gly1971Glu) c.7241G>A (p.Gly2414Glu) c.5444G>A (p.Gly1815Glu) | COSMIC |
| 6 | g.7584503G>C | CA362692557 | DSP | c.5912G>C (p.Gly1971Ala) c.7241G>C (p.Gly2414Ala) c.5444G>C (p.Gly1815Ala) | |
| 6 | g.7584503G>T | CA362692558 | DSP | c.5912G>T (p.Gly1971Val) c.7241G>T (p.Gly2414Val) c.5444G>T (p.Gly1815Val) | COSMIC |
| 6 | g.7584504A>C | CA448716417 | DSP | c.5913A>C (p.Gly1971=) c.7242A>C (p.Gly2414=) c.5445A>C (p.Gly1815=) | |
| 6 | g.7584504A>G | CA448716418 | DSP | c.5913A>G (p.Gly1971=) c.7242A>G (p.Gly2414=) c.5445A>G (p.Gly1815=) | |
| 6 | g.7584504A>T | CA448716420 | DSP | c.5913A>T (p.Gly1971=) c.7242A>T (p.Gly2414=) c.5445A>T (p.Gly1815=) | COSMIC |
| 6 | g.7584504_7584505delinsAT | CA1608611328 | DSP | c.5913_5914delinsAT (p.Gly1971=) c.7242_7243delinsAT (p.Gly2414=) c.5445_5446delinsAT (p.Gly1815=) | |
| 6 | g.7584505T>A | CA362692561 | DSP | c.5914T>A (p.Phe1972Ile) c.7243T>A (p.Phe2415Ile) c.5446T>A (p.Phe1816Ile) | |
| 6 | g.7584505T>C | CA362692559 | DSP | c.5914T>C (p.Phe1972Leu) c.7243T>C (p.Phe2415Leu) c.5446T>C (p.Phe1816Leu) | |
| 6 | g.7584505T>G | CA362692560 | DSP | c.5914T>G (p.Phe1972Val) c.7243T>G (p.Phe2415Val) c.5446T>G (p.Phe1816Val) | |
| 6 | g.7584510dup | CA2695205963 | DSP | c.5919dup (p.Asp1974Ter) c.7248dup (p.Asp2417Ter) c.5451dup (p.Asp1818Ter) | |
| 6 | g.7584510del | CA007160 | DSP | c.5919del (p.Phe1973LeufsTer14) c.7248del (p.Phe2416LeufsTer14) c.5451del (p.Phe1817LeufsTer14) | ClinVar dbSNP |
| 6 | g.7584506T>A | CA362692562 | DSP | c.5915T>A (p.Phe1972Tyr) c.7244T>A (p.Phe2415Tyr) c.5447T>A (p.Phe1816Tyr) | |
| 6 | g.7584506T>C | CA362692563 | DSP | c.5915T>C (p.Phe1972Ser) c.7244T>C (p.Phe2415Ser) c.5447T>C (p.Phe1816Ser) | |
| 6 | g.7584506T>G | CA362692564 | DSP | c.5915T>G (p.Phe1972Cys) c.7244T>G (p.Phe2415Cys) c.5447T>G (p.Phe1816Cys) | |
| 6 | g.7584507T>A | CA362692565 | DSP | c.5916T>A (p.Phe1972Leu) c.7245T>A (p.Phe2415Leu) c.5448T>A (p.Phe1816Leu) | |
| 6 | g.7584507T>C | CA448716435 | DSP | c.5916T>C (p.Phe1972=) c.7245T>C (p.Phe2415=) c.5448T>C (p.Phe1816=) | |
| 6 | g.7584507T>G | CA362692566 | DSP | c.5916T>G (p.Phe1972Leu) c.7245T>G (p.Phe2415Leu) c.5448T>G (p.Phe1816Leu) | |
| 6 | g.7584508T>A | CA362692569 | DSP | c.5917T>A (p.Phe1973Ile) c.7246T>A (p.Phe2416Ile) c.5449T>A (p.Phe1817Ile) | |
| 6 | g.7584508T>C | CA362692568 | DSP | c.5917T>C (p.Phe1973Leu) c.7246T>C (p.Phe2416Leu) c.5449T>C (p.Phe1817Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584508T>G | CA362692567 | DSP | c.5917T>G (p.Phe1973Val) c.7246T>G (p.Phe2416Val) c.5449T>G (p.Phe1817Val) | |
| 6 | g.7584509T>A | CA362692570 | DSP | c.5918T>A (p.Phe1973Tyr) c.7247T>A (p.Phe2416Tyr) c.5450T>A (p.Phe1817Tyr) | |
| 6 | g.7584509T>C | CA362692571 | DSP | c.5918T>C (p.Phe1973Ser) c.7247T>C (p.Phe2416Ser) c.5450T>C (p.Phe1817Ser) | |
| 6 | g.7584509T>G | CA362692572 | DSP | c.5918T>G (p.Phe1973Cys) c.7247T>G (p.Phe2416Cys) c.5450T>G (p.Phe1817Cys) | |
| 6 | g.7584510T>A | CA362692573 | DSP | c.5919T>A (p.Phe1973Leu) c.7248T>A (p.Phe2416Leu) c.5451T>A (p.Phe1817Leu) | |
| 6 | g.7584510T>C | CA448716447 | DSP | c.5919T>C (p.Phe1973=) c.7248T>C (p.Phe2416=) c.5451T>C (p.Phe1817=) | |
| 6 | g.7584510T>G | CA362692574 | DSP | c.5919T>G (p.Phe1973Leu) c.7248T>G (p.Phe2416Leu) c.5451T>G (p.Phe1817Leu) | |
| 6 | g.7584511G>A | CA362692575 | DSP | c.5920G>A (p.Asp1974Asn) c.7249G>A (p.Asp2417Asn) c.5452G>A (p.Asp1818Asn) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584511G>C | CA362692576 | DSP | c.5920G>C (p.Asp1974His) c.7249G>C (p.Asp2417His) c.5452G>C (p.Asp1818His) | |
| 6 | g.7584511G= | CA1608611344 | DSP | c.5920G= (p.Asp1974=) c.7249G= (p.Asp2417=) c.5452G= (p.Asp1818=) | |
| 6 | g.7584511G>T | CA049348 | DSP | c.5920G>T (p.Asp1974Tyr) c.7249G>T (p.Asp2417Tyr) c.5452G>T (p.Asp1818Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584512A>C | CA362692577 | DSP | c.5921A>C (p.Asp1974Ala) c.7250A>C (p.Asp2417Ala) c.5453A>C (p.Asp1818Ala) | |
| 6 | g.7584512A>G | CA362692578 | DSP | c.5921A>G (p.Asp1974Gly) c.7250A>G (p.Asp2417Gly) c.5453A>G (p.Asp1818Gly) | |
| 6 | g.7584512A>T | CA362692579 | DSP | c.5921A>T (p.Asp1974Val) c.7250A>T (p.Asp2417Val) c.5453A>T (p.Asp1818Val) | |
| 6 | g.7584513C>A | CA362692580 | DSP | c.5922C>A (p.Asp1974Glu) c.7251C>A (p.Asp2417Glu) c.5454C>A (p.Asp1818Glu) | |
| 6 | g.7584513C>G | CA362692581 | DSP | c.5922C>G (p.Asp1974Glu) c.7251C>G (p.Asp2417Glu) c.5454C>G (p.Asp1818Glu) | |
| 6 | g.7584513C>T | CA448716465 | DSP | c.5922C>T (p.Asp1974=) c.7251C>T (p.Asp2417=) c.5454C>T (p.Asp1818=) | |
| 6 | g.7584516dup | CA2580075355 | DSP | c.5925dup (p.Asn1976GlnfsTer3) c.7254dup (p.Asn2419GlnfsTer3) c.5457dup (p.Asn1820GlnfsTer3) | ClinVar |
| 6 | g.7584514C>A | CA362692582 | DSP | c.5923C>A (p.Pro1975Thr) c.7252C>A (p.Pro2418Thr) c.5455C>A (p.Pro1819Thr) | gnomAD v4 |
| 6 | g.7584514C>G | CA362692583 | DSP | c.5923C>G (p.Pro1975Ala) c.7252C>G (p.Pro2418Ala) c.5455C>G (p.Pro1819Ala) | |
| 6 | g.7584514C>T | CA362692584 | DSP | c.5923C>T (p.Pro1975Ser) c.7252C>T (p.Pro2418Ser) c.5455C>T (p.Pro1819Ser) | gnomAD v4 |
| 6 | g.7584515C>A | CA362692585 | DSP | c.5924C>A (p.Pro1975His) c.7253C>A (p.Pro2418His) c.5456C>A (p.Pro1819His) | |
| 6 | g.7584515C>G | CA362692586 | DSP | c.5924C>G (p.Pro1975Arg) c.7253C>G (p.Pro2418Arg) c.5456C>G (p.Pro1819Arg) | |
| 6 | g.7584515C>T | CA362692587 | DSP | c.5924C>T (p.Pro1975Leu) c.7253C>T (p.Pro2418Leu) c.5456C>T (p.Pro1819Leu) | |
| 6 | g.7584516C>A | CA448716476 | DSP | c.5925C>A (p.Pro1975=) c.7254C>A (p.Pro2418=) c.5457C>A (p.Pro1819=) | |
| 6 | g.7584516C>G | CA448716475 | DSP | c.5925C>G (p.Pro1975=) c.7254C>G (p.Pro2418=) c.5457C>G (p.Pro1819=) | |
| 6 | g.7584516C>T | CA448716471 | DSP | c.5925C>T (p.Pro1975=) c.7254C>T (p.Pro2418=) c.5457C>T (p.Pro1819=) | |
| 6 | g.7584518_7584520del | CA2825001488 | DSP | c.5927_5929del (p.Asn1976del) c.7256_7258del (p.Asn2419del) c.5459_5461del (p.Asn1820del) | ClinVar |