| 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.7583118_7583119del | CA2710966108 | DSP | c.4527_4528del (p.Glu1509AspfsTer4) c.5856_5857del (p.Glu1952AspfsTer4) c.4059_4060del (p.Glu1353AspfsTer4) | dbSNP |
| 6 | g.7583115A>C | CA448715661 | DSP | c.4524A>C (p.Arg1508=) c.5853A>C (p.Arg1951=) c.4056A>C (p.Arg1352=) | |
| 6 | g.7583115A>G | CA448715660 | DSP | c.4524A>G (p.Arg1508=) c.5853A>G (p.Arg1951=) c.4056A>G (p.Arg1352=) | |
| 6 | g.7583115A>T | CA448715658 | DSP | c.4524A>T (p.Arg1508=) c.5853A>T (p.Arg1951=) c.4056A>T (p.Arg1352=) | |
| 6 | g.7583116G>A | CA362689554 | DSP | c.4525G>A (p.Glu1509Lys) c.5854G>A (p.Glu1952Lys) c.4057G>A (p.Glu1353Lys) | |
| 6 | g.7583116G>C | CA362689553 | DSP | c.4525G>C (p.Glu1509Gln) c.5854G>C (p.Glu1952Gln) c.4057G>C (p.Glu1353Gln) | |
| 6 | g.7583116G>T | CA362689552 | DSP | c.4525G>T (p.Glu1509Ter) c.5854G>T (p.Glu1952Ter) c.4057G>T (p.Glu1353Ter) | |
| 6 | g.7583116_7583117delinsGA | CA1608607299 | DSP | c.4525_4526delinsGA (p.Glu1509=) c.5854_5855delinsGA (p.Glu1952=) c.4057_4058delinsGA (p.Glu1353=) | |
| 6 | g.7583117del | CA1139659418 | DSP | c.4526del (p.Glu1509GlyfsTer20) c.5855del (p.Glu1952GlyfsTer20) c.4058del (p.Glu1353GlyfsTer20) | ClinVar dbSNP |
| 6 | g.7583117A>C | CA362689555 | DSP | c.4526A>C (p.Glu1509Ala) c.5855A>C (p.Glu1952Ala) c.4058A>C (p.Glu1353Ala) | |
| 6 | g.7583117A>G | CA362689556 | DSP | c.4526A>G (p.Glu1509Gly) c.5855A>G (p.Glu1952Gly) c.4058A>G (p.Glu1353Gly) | |
| 6 | g.7583117A>T | CA362689557 | DSP | c.4526A>T (p.Glu1509Val) c.5855A>T (p.Glu1952Val) c.4058A>T (p.Glu1353Val) | |
| 6 | g.7583118G>A | CA448715662 | DSP | c.4527G>A (p.Glu1509=) c.5856G>A (p.Glu1952=) c.4059G>A (p.Glu1353=) | |
| 6 | g.7583118G>C | CA362689558 | DSP | c.4527G>C (p.Glu1509Asp) c.5856G>C (p.Glu1952Asp) c.4059G>C (p.Glu1353Asp) | |
| 6 | g.7583118G>T | CA362689559 | DSP | c.4527G>T (p.Glu1509Asp) c.5856G>T (p.Glu1952Asp) c.4059G>T (p.Glu1353Asp) | gnomAD v4 |
| 6 | g.7583122_7583142del | CA2677235160 | DSP | c.4531_4551del (p.Gln1511_Thr1517del) c.5860_5880del (p.Gln1954_Thr1960del) c.4063_4083del (p.Gln1355_Thr1361del) | gnomAD v4 |
| 6 | g.7583119A>C | CA362689560 | DSP | c.4528A>C (p.Thr1510Pro) c.5857A>C (p.Thr1953Pro) c.4060A>C (p.Thr1354Pro) | |
| 6 | g.7583119A>G | CA362689561 | DSP | c.4528A>G (p.Thr1510Ala) c.5857A>G (p.Thr1953Ala) c.4060A>G (p.Thr1354Ala) | |
| 6 | g.7583119A>T | CA362689562 | DSP | c.4528A>T (p.Thr1510Ser) c.5857A>T (p.Thr1953Ser) c.4060A>T (p.Thr1354Ser) | |
| 6 | g.7583120C>A | CA362689563 | DSP | c.4529C>A (p.Thr1510Asn) c.5858C>A (p.Thr1953Asn) c.4061C>A (p.Thr1354Asn) | |
| 6 | g.7583120C>G | CA362689564 | DSP | c.4529C>G (p.Thr1510Ser) c.5858C>G (p.Thr1953Ser) c.4061C>G (p.Thr1354Ser) | |
| 6 | g.7583120C>T | CA362689565 | DSP | c.4529C>T (p.Thr1510Ile) c.5858C>T (p.Thr1953Ile) c.4061C>T (p.Thr1354Ile) | |
| 6 | g.7583121C>A | CA448715666 | DSP | c.4530C>A (p.Thr1510=) c.5859C>A (p.Thr1953=) c.4062C>A (p.Thr1354=) | COSMIC |
| 6 | g.7583121C= | CA1608607311 | DSP | c.4530C= (p.Thr1510=) c.5859C= (p.Thr1953=) c.4062C= (p.Thr1354=) | |
| 6 | g.7583121C>G | CA045924 | DSP | c.4530C>G (p.Thr1510=) c.5859C>G (p.Thr1953=) c.4062C>G (p.Thr1354=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7583121C>T | CA448715667 | DSP | c.4530C>T (p.Thr1510=) c.5859C>T (p.Thr1953=) c.4062C>T (p.Thr1354=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583122C>A | CA362689567 | DSP | c.4531C>A (p.Gln1511Lys) c.5860C>A (p.Gln1954Lys) c.4063C>A (p.Gln1355Lys) | |
| 6 | g.7583122C>G | CA362689568 | DSP | c.4531C>G (p.Gln1511Glu) c.5860C>G (p.Gln1954Glu) c.4063C>G (p.Gln1355Glu) | |
| 6 | g.7583122C>T | CA362689566 | DSP | c.4531C>T (p.Gln1511Ter) c.5860C>T (p.Gln1954Ter) c.4063C>T (p.Gln1355Ter) | |
| 6 | g.7583123A>C | CA362689569 | DSP | c.4532A>C (p.Gln1511Pro) c.5861A>C (p.Gln1954Pro) c.4064A>C (p.Gln1355Pro) | gnomAD v4 |
| 6 | g.7583123A>G | CA362689570 | DSP | c.4532A>G (p.Gln1511Arg) c.5861A>G (p.Gln1954Arg) c.4064A>G (p.Gln1355Arg) | |
| 6 | g.7583123A>T | CA362689571 | DSP | c.4532A>T (p.Gln1511Leu) c.5861A>T (p.Gln1954Leu) c.4064A>T (p.Gln1355Leu) | |
| 6 | g.7583124G>A | CA448715668 | DSP | c.4533G>A (p.Gln1511=) c.5862G>A (p.Gln1954=) c.4065G>A (p.Gln1355=) | |
| 6 | g.7583124G>C | CA362689572 | DSP | c.4533G>C (p.Gln1511His) c.5862G>C (p.Gln1954His) c.4065G>C (p.Gln1355His) | dbSNP gnomAD v4 |
| 6 | g.7583124G= | CA1608607314 | DSP | c.4533G= (p.Gln1511=) c.5862G= (p.Gln1954=) c.4065G= (p.Gln1355=) | |
| 6 | g.7583124G>T | CA362689573 | DSP | c.4533G>T (p.Gln1511His) c.5862G>T (p.Gln1954His) c.4065G>T (p.Gln1355His) | gnomAD v4 |
| 6 | g.7583125A>C | CA362689576 | DSP | c.4534A>C (p.Thr1512Pro) c.5863A>C (p.Thr1955Pro) c.4066A>C (p.Thr1356Pro) | |
| 6 | g.7583125A>G | CA362689575 | DSP | c.4534A>G (p.Thr1512Ala) c.5863A>G (p.Thr1955Ala) c.4066A>G (p.Thr1356Ala) | |
| 6 | g.7583125A>T | CA362689574 | DSP | c.4534A>T (p.Thr1512Ser) c.5863A>T (p.Thr1955Ser) c.4066A>T (p.Thr1356Ser) | |
| 6 | g.7583126C>A | CA362689577 | DSP | c.4535C>A (p.Thr1512Asn) c.5864C>A (p.Thr1955Asn) c.4067C>A (p.Thr1356Asn) | |
| 6 | g.7583126C= | CA1608607318 | DSP | c.4535C= (p.Thr1512=) c.5864C= (p.Thr1955=) c.4067C= (p.Thr1356=) | |
| 6 | g.7583126C>G | CA362689578 | DSP | c.4535C>G (p.Thr1512Ser) c.5864C>G (p.Thr1955Ser) c.4067C>G (p.Thr1356Ser) | |
| 6 | g.7583126C>T | CA045944 | DSP | c.4535C>T (p.Thr1512Ile) c.5864C>T (p.Thr1955Ile) c.4067C>T (p.Thr1356Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583127T>A | CA448715670 | DSP | c.4536T>A (p.Thr1512=) c.5865T>A (p.Thr1955=) c.4068T>A (p.Thr1356=) | |
| 6 | g.7583127T>C | CA448715671 | DSP | c.4536T>C (p.Thr1512=) c.5865T>C (p.Thr1955=) c.4068T>C (p.Thr1356=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583127T>G | CA448715672 | DSP | c.4536T>G (p.Thr1512=) c.5865T>G (p.Thr1955=) c.4068T>G (p.Thr1356=) | |
| 6 | g.7583127T= | CA1608607325 | DSP | c.4536T= (p.Thr1512=) c.5865T= (p.Thr1955=) c.4068T= (p.Thr1356=) | |
| 6 | g.7583128G>A | CA362689579 | DSP | c.4537G>A (p.Glu1513Lys) c.5866G>A (p.Glu1956Lys) c.4069G>A (p.Glu1357Lys) | ClinVar dbSNP |
| 6 | g.7583128G>C | CA362689580 | DSP | c.4537G>C (p.Glu1513Gln) c.5866G>C (p.Glu1956Gln) c.4069G>C (p.Glu1357Gln) | |
| 6 | g.7583128G= | CA1608607332 | DSP | c.4537G= (p.Glu1513=) c.5866G= (p.Glu1956=) c.4069G= (p.Glu1357=) | |
| 6 | g.7583128G>T | CA362689581 | DSP | c.4537G>T (p.Glu1513Ter) c.5866G>T (p.Glu1956Ter) c.4069G>T (p.Glu1357Ter) | |
| 6 | g.7583129A>C | CA362689582 | DSP | c.4538A>C (p.Glu1513Ala) c.5867A>C (p.Glu1956Ala) c.4070A>C (p.Glu1357Ala) | |
| 6 | g.7583129A>G | CA362689584 | DSP | c.4538A>G (p.Glu1513Gly) c.5867A>G (p.Glu1956Gly) c.4070A>G (p.Glu1357Gly) | |
| 6 | g.7583129A>T | CA362689583 | DSP | c.4538A>T (p.Glu1513Val) c.5867A>T (p.Glu1956Val) c.4070A>T (p.Glu1357Val) | |
| 6 | g.7583130G>A | CA448715674 | DSP | c.4539G>A (p.Glu1513=) c.5868G>A (p.Glu1956=) c.4071G>A (p.Glu1357=) | |
| 6 | g.7583130G>C | CA362689585 | DSP | c.4539G>C (p.Glu1513Asp) c.5868G>C (p.Glu1956Asp) c.4071G>C (p.Glu1357Asp) | dbSNP |
| 6 | g.7583130G>T | CA362689586 | DSP | c.4539G>T (p.Glu1513Asp) c.5868G>T (p.Glu1956Asp) c.4071G>T (p.Glu1357Asp) | |
| 6 | g.7583131T>A | CA362689587 | DSP | c.4540T>A (p.Cys1514Ser) c.5869T>A (p.Cys1957Ser) c.4072T>A (p.Cys1358Ser) | gnomAD v3 gnomAD v4 |
| 6 | g.7583131T>C | CA362689588 | DSP | c.4540T>C (p.Cys1514Arg) c.5869T>C (p.Cys1957Arg) c.4072T>C (p.Cys1358Arg) | ClinVar dbSNP |
| 6 | g.7583131T>G | CA362689589 | DSP | c.4540T>G (p.Cys1514Gly) c.5869T>G (p.Cys1957Gly) c.4072T>G (p.Cys1358Gly) | |
| 6 | g.7583132G>A | CA362689590 | DSP | c.4541G>A (p.Cys1514Tyr) c.5870G>A (p.Cys1957Tyr) c.4073G>A (p.Cys1358Tyr) | |
| 6 | g.7583132G>C | CA362689591 | DSP | c.4541G>C (p.Cys1514Ser) c.5870G>C (p.Cys1957Ser) c.4073G>C (p.Cys1358Ser) | |
| 6 | g.7583132G>T | CA362689592 | DSP | c.4541G>T (p.Cys1514Phe) c.5870G>T (p.Cys1957Phe) c.4073G>T (p.Cys1358Phe) | |
| 6 | g.7583133T>A | CA362689593 | DSP | c.4542T>A (p.Cys1514Ter) c.5871T>A (p.Cys1957Ter) c.4074T>A (p.Cys1358Ter) | |
| 6 | g.7583133T>C | CA448715677 | DSP | c.4542T>C (p.Cys1514=) c.5871T>C (p.Cys1957=) c.4074T>C (p.Cys1358=) | |
| 6 | g.7583133T>G | CA362689594 | DSP | c.4542T>G (p.Cys1514Trp) c.5871T>G (p.Cys1957Trp) c.4074T>G (p.Cys1358Trp) | |
| 6 | g.7583134G>A | CA362689595 | DSP | c.4543G>A (p.Glu1515Lys) c.5872G>A (p.Glu1958Lys) c.4075G>A (p.Glu1359Lys) | |
| 6 | g.7583134G>C | CA362689596 | DSP | c.4543G>C (p.Glu1515Gln) c.5872G>C (p.Glu1958Gln) c.4075G>C (p.Glu1359Gln) | dbSNP gnomAD v4 |
| 6 | g.7583134G= | CA1608607338 | DSP | c.4543G= (p.Glu1515=) c.5872G= (p.Glu1958=) c.4075G= (p.Glu1359=) | |
| 6 | g.7583134G>T | CA362689597 | DSP | c.4543G>T (p.Glu1515Ter) c.5872G>T (p.Glu1958Ter) c.4075G>T (p.Glu1359Ter) | |
| 6 | g.7583135A>C | CA362689599 | DSP | c.4544A>C (p.Glu1515Ala) c.5873A>C (p.Glu1958Ala) c.4076A>C (p.Glu1359Ala) | |
| 6 | g.7583135A>G | CA362689600 | DSP | c.4544A>G (p.Glu1515Gly) c.5873A>G (p.Glu1958Gly) c.4076A>G (p.Glu1359Gly) | |
| 6 | g.7583135A>T | CA362689598 | DSP | c.4544A>T (p.Glu1515Val) c.5873A>T (p.Glu1958Val) c.4076A>T (p.Glu1359Val) | |
| 6 | g.7583136G>A | CA448715681 | DSP | c.4545G>A (p.Glu1515=) c.5874G>A (p.Glu1958=) c.4077G>A (p.Glu1359=) | |
| 6 | g.7583136G>C | CA362689601 | DSP | c.4545G>C (p.Glu1515Asp) c.5874G>C (p.Glu1958Asp) c.4077G>C (p.Glu1359Asp) | ClinVar |
| 6 | g.7583136G>T | CA362689602 | DSP | c.4545G>T (p.Glu1515Asp) c.5874G>T (p.Glu1958Asp) c.4077G>T (p.Glu1359Asp) | |
| 6 | g.7583137T>A | CA362689603 | DSP | c.4546T>A (p.Trp1516Arg) c.5875T>A (p.Trp1959Arg) c.4078T>A (p.Trp1360Arg) | |
| 6 | g.7583137T>C | CA362689605 | DSP | c.4546T>C (p.Trp1516Arg) c.5875T>C (p.Trp1959Arg) c.4078T>C (p.Trp1360Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583137T>G | CA362689604 | DSP | c.4546T>G (p.Trp1516Gly) c.5875T>G (p.Trp1959Gly) c.4078T>G (p.Trp1360Gly) | |
| 6 | g.7583137T= | CA1608607342 | DSP | c.4546T= (p.Trp1516=) c.5875T= (p.Trp1959=) c.4078T= (p.Trp1360=) | |
| 6 | g.7583138G>A | CA362689606 | DSP | c.4547G>A (p.Trp1516Ter) c.5876G>A (p.Trp1959Ter) c.4079G>A (p.Trp1360Ter) | |
| 6 | g.7583138G>C | CA362689607 | DSP | c.4547G>C (p.Trp1516Ser) c.5876G>C (p.Trp1959Ser) c.4079G>C (p.Trp1360Ser) | |
| 6 | g.7583138G>T | CA362689608 | DSP | c.4547G>T (p.Trp1516Leu) c.5876G>T (p.Trp1959Leu) c.4079G>T (p.Trp1360Leu) | |
| 6 | g.7583139G>A | CA133972604 | DSP | c.4548G>A (p.Trp1516Ter) c.5877G>A (p.Trp1959Ter) c.4080G>A (p.Trp1360Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583139G>C | CA362689609 | DSP | c.4548G>C (p.Trp1516Cys) c.5877G>C (p.Trp1959Cys) c.4080G>C (p.Trp1360Cys) | |
| 6 | g.7583139G= | CA1608607345 | DSP | c.4548G= (p.Trp1516=) c.5877G= (p.Trp1959=) c.4080G= (p.Trp1360=) | |
| 6 | g.7583139G>T | CA362689610 | DSP | c.4548G>T (p.Trp1516Cys) c.5877G>T (p.Trp1959Cys) c.4080G>T (p.Trp1360Cys) | |
| 6 | g.7583140A= | CA1608607350 | DSP | c.4549A= (p.Thr1517=) c.5878A= (p.Thr1960=) c.4081A= (p.Thr1361=) | |
| 6 | g.7583140A>C | CA362689611 | DSP | c.4549A>C (p.Thr1517Pro) c.5878A>C (p.Thr1960Pro) c.4081A>C (p.Thr1361Pro) | dbSNP gnomAD v4 |
| 6 | g.7583140A>G | CA362689612 | DSP | c.4549A>G (p.Thr1517Ala) c.5878A>G (p.Thr1960Ala) c.4081A>G (p.Thr1361Ala) | |
| 6 | g.7583140A>T | CA362689613 | DSP | c.4549A>T (p.Thr1517Ser) c.5878A>T (p.Thr1960Ser) c.4081A>T (p.Thr1361Ser) | |
| 6 | g.7583141C>A | CA362689614 | DSP | c.4550C>A (p.Thr1517Asn) c.5879C>A (p.Thr1960Asn) c.4082C>A (p.Thr1361Asn) | |
| 6 | g.7583141C= | CA1608607356 | DSP | c.4550C= (p.Thr1517=) c.5879C= (p.Thr1960=) c.4082C= (p.Thr1361=) | |
| 6 | g.7583141C>G | CA362689615 | DSP | c.4550C>G (p.Thr1517Ser) c.5879C>G (p.Thr1960Ser) c.4082C>G (p.Thr1361Ser) | |
| 6 | g.7583141C>T | CA362689616 | DSP | c.4550C>T (p.Thr1517Ile) c.5879C>T (p.Thr1960Ile) c.4082C>T (p.Thr1361Ile) | dbSNP |
| 6 | g.7583142C>A | CA448715685 | DSP | c.4551C>A (p.Thr1517=) c.5880C>A (p.Thr1960=) c.4083C>A (p.Thr1361=) | |
| 6 | g.7583142C= | CA1608607360 | DSP | c.4551C= (p.Thr1517=) c.5880C= (p.Thr1960=) c.4083C= (p.Thr1361=) | |
| 6 | g.7583142C>G | CA448715686 | DSP | c.4551C>G (p.Thr1517=) c.5880C>G (p.Thr1960=) c.4083C>G (p.Thr1361=) | |
| 6 | g.7583142C>T | CA045967 | DSP | c.4551C>T (p.Thr1517=) c.5880C>T (p.Thr1960=) c.4083C>T (p.Thr1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583143G>A | CA006646 | DSP | c.4552G>A (p.Val1518Ile) c.5881G>A (p.Val1961Ile) c.4084G>A (p.Val1362Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583143G>C | CA362689618 | DSP | c.4552G>C (p.Val1518Leu) c.5881G>C (p.Val1961Leu) c.4084G>C (p.Val1362Leu) | gnomAD v4 |
| 6 | g.7583143G= | CA1608607371 | DSP | c.4552G= (p.Val1518=) c.5881G= (p.Val1961=) c.4084G= (p.Val1362=) | |
| 6 | g.7583143G>T | CA362689617 | DSP | c.4552G>T (p.Val1518Phe) c.5881G>T (p.Val1961Phe) c.4084G>T (p.Val1362Phe) | |
| 6 | g.7583144T>A | CA362689619 | DSP | c.4553T>A (p.Val1518Asp) c.5882T>A (p.Val1961Asp) c.4085T>A (p.Val1362Asp) | |
| 6 | g.7583144T>C | CA362689620 | DSP | c.4553T>C (p.Val1518Ala) c.5882T>C (p.Val1961Ala) c.4085T>C (p.Val1362Ala) | ClinVar gnomAD v4 |
| 6 | g.7583144T>G | CA045992 | DSP | c.4553T>G (p.Val1518Gly) c.5882T>G (p.Val1961Gly) c.4085T>G (p.Val1362Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583144T= | CA1608607378 | DSP | c.4553T= (p.Val1518=) c.5882T= (p.Val1961=) c.4085T= (p.Val1362=) | |
| 6 | g.7583145T>A | CA448715690 | DSP | c.4554T>A (p.Val1518=) c.5883T>A (p.Val1961=) c.4086T>A (p.Val1362=) | |
| 6 | g.7583145T>C | CA448715691 | DSP | c.4554T>C (p.Val1518=) c.5883T>C (p.Val1961=) c.4086T>C (p.Val1362=) | |
| 6 | g.7583145T>G | CA448715692 | DSP | c.4554T>G (p.Val1518=) c.5883T>G (p.Val1961=) c.4086T>G (p.Val1362=) | |
| 6 | g.7583146G>A | CA362689621 | DSP | c.4555G>A (p.Asp1519Asn) c.5884G>A (p.Asp1962Asn) c.4087G>A (p.Asp1363Asn) | ClinVar |
| 6 | g.7583146G>C | CA362689622 | DSP | c.4555G>C (p.Asp1519His) c.5884G>C (p.Asp1962His) c.4087G>C (p.Asp1363His) | |
| 6 | g.7583146G>T | CA362689623 | DSP | c.4555G>T (p.Asp1519Tyr) c.5884G>T (p.Asp1962Tyr) c.4087G>T (p.Asp1363Tyr) | |
| 6 | g.7583147A>C | CA362689624 | DSP | c.4556A>C (p.Asp1519Ala) c.5885A>C (p.Asp1962Ala) c.4088A>C (p.Asp1363Ala) | |
| 6 | g.7583147A>G | CA362689625 | DSP | c.4556A>G (p.Asp1519Gly) c.5885A>G (p.Asp1962Gly) c.4088A>G (p.Asp1363Gly) | |
| 6 | g.7583147A>T | CA362689626 | DSP | c.4556A>T (p.Asp1519Val) c.5885A>T (p.Asp1962Val) c.4088A>T (p.Asp1363Val) | |
| 6 | g.7583148C>A | CA362689627 | DSP | c.4557C>A (p.Asp1519Glu) c.5886C>A (p.Asp1962Glu) c.4089C>A (p.Asp1363Glu) | |
| 6 | g.7583148C>G | CA362689628 | DSP | c.4557C>G (p.Asp1519Glu) c.5886C>G (p.Asp1962Glu) c.4089C>G (p.Asp1363Glu) | |
| 6 | g.7583148C>T | CA448715693 | DSP | c.4557C>T (p.Asp1519=) c.5886C>T (p.Asp1962=) c.4089C>T (p.Asp1363=) | |
| 6 | g.7583149A= | CA1608607382 | DSP | c.4558A= (p.Thr1520=) c.5887A= (p.Thr1963=) c.4090A= (p.Thr1364=) | |
| 6 | g.7583149A>C | CA362689629 | DSP | c.4558A>C (p.Thr1520Pro) c.5887A>C (p.Thr1963Pro) c.4090A>C (p.Thr1364Pro) | |
| 6 | g.7583149A>G | CA362689630 | DSP | c.4558A>G (p.Thr1520Ala) c.5887A>G (p.Thr1963Ala) c.4090A>G (p.Thr1364Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583149A>T | CA362689631 | DSP | c.4558A>T (p.Thr1520Ser) c.5887A>T (p.Thr1963Ser) c.4090A>T (p.Thr1364Ser) | |
| 6 | g.7583149dup | CA2573140812 | DSP | c.4558dup (p.Thr1520AsnfsTer7) c.5887dup (p.Thr1963AsnfsTer7) c.4090dup (p.Thr1364AsnfsTer7) | ClinVar dbSNP |
| 6 | g.7583150C>A | CA362689634 | DSP | c.4559C>A (p.Thr1520Asn) c.5888C>A (p.Thr1963Asn) c.4091C>A (p.Thr1364Asn) | |
| 6 | g.7583150C= | CA1608607385 | DSP | c.4559C= (p.Thr1520=) c.5888C= (p.Thr1963=) c.4091C= (p.Thr1364=) | |
| 6 | g.7583150C>G | CA362689633 | DSP | c.4559C>G (p.Thr1520Ser) c.5888C>G (p.Thr1963Ser) c.4091C>G (p.Thr1364Ser) | |
| 6 | g.7583150C>T | CA362689632 | DSP | c.4559C>T (p.Thr1520Ile) c.5888C>T (p.Thr1963Ile) c.4091C>T (p.Thr1364Ile) | dbSNP gnomAD v4 |
| 6 | g.7583151C>A | CA448715696 | DSP | c.4560C>A (p.Thr1520=) c.5889C>A (p.Thr1963=) c.4092C>A (p.Thr1364=) | |
| 6 | g.7583151C>G | CA448715697 | DSP | c.4560C>G (p.Thr1520=) c.5889C>G (p.Thr1963=) c.4092C>G (p.Thr1364=) | |
| 6 | g.7583151C>T | CA448715698 | DSP | c.4560C>T (p.Thr1520=) c.5889C>T (p.Thr1963=) c.4092C>T (p.Thr1364=) | |
| 6 | g.7583152T>A | CA362689635 | DSP | c.4561T>A (p.Ser1521Thr) c.5890T>A (p.Ser1964Thr) c.4093T>A (p.Ser1365Thr) | |
| 6 | g.7583152T>C | CA362689636 | DSP | c.4561T>C (p.Ser1521Pro) c.5890T>C (p.Ser1964Pro) c.4093T>C (p.Ser1365Pro) | |
| 6 | g.7583152T>G | CA362689637 | DSP | c.4561T>G (p.Ser1521Ala) c.5890T>G (p.Ser1964Ala) c.4093T>G (p.Ser1365Ala) | |
| 6 | g.7583153C>A | CA362689638 | DSP | c.4562C>A (p.Ser1521Tyr) c.5891C>A (p.Ser1964Tyr) c.4094C>A (p.Ser1365Tyr) | |
| 6 | g.7583153C>G | CA362689639 | DSP | c.4562C>G (p.Ser1521Cys) c.5891C>G (p.Ser1964Cys) c.4094C>G (p.Ser1365Cys) | |
| 6 | g.7583153C>T | CA362689640 | DSP | c.4562C>T (p.Ser1521Phe) c.5891C>T (p.Ser1964Phe) c.4094C>T (p.Ser1365Phe) | |
| 6 | g.7583154C>A | CA448715699 | DSP | c.4563C>A (p.Ser1521=) c.5892C>A (p.Ser1964=) c.4095C>A (p.Ser1365=) | |
| 6 | g.7583154C>G | CA448715701 | DSP | c.4563C>G (p.Ser1521=) c.5892C>G (p.Ser1964=) c.4095C>G (p.Ser1365=) | |
| 6 | g.7583154C>T | CA448715703 | DSP | c.4563C>T (p.Ser1521=) c.5892C>T (p.Ser1964=) c.4095C>T (p.Ser1365=) | ClinVar |
| 6 | g.7583155A>C | CA362689641 | DSP | c.4564A>C (p.Lys1522Gln) c.5893A>C (p.Lys1965Gln) c.4096A>C (p.Lys1366Gln) | |
| 6 | g.7583155A>G | CA362689642 | DSP | c.4564A>G (p.Lys1522Glu) c.5893A>G (p.Lys1965Glu) c.4096A>G (p.Lys1366Glu) | |
| 6 | g.7583155A>T | CA362689643 | DSP | c.4564A>T (p.Lys1522Ter) c.5893A>T (p.Lys1965Ter) c.4096A>T (p.Lys1366Ter) | |
| 6 | g.7583156A= | CA1608607392 | DSP | c.4565A= (p.Lys1522=) c.5894A= (p.Lys1965=) c.4097A= (p.Lys1366=) | |
| 6 | g.7583156A>C | CA362689644 | DSP | c.4565A>C (p.Lys1522Thr) c.5894A>C (p.Lys1965Thr) c.4097A>C (p.Lys1366Thr) | |
| 6 | g.7583156A>G | CA362689645 | DSP | c.4565A>G (p.Lys1522Arg) c.5894A>G (p.Lys1965Arg) c.4097A>G (p.Lys1366Arg) | ClinVar dbSNP |
| 6 | g.7583156A>T | CA362689646 | DSP | c.4565A>T (p.Lys1522Met) c.5894A>T (p.Lys1965Met) c.4097A>T (p.Lys1366Met) | |
| 6 | g.7583157G>A | CA448715704 | DSP | c.4566G>A (p.Lys1522=) c.5895G>A (p.Lys1965=) c.4098G>A (p.Lys1366=) | |
| 6 | g.7583157G>C | CA362689647 | DSP | c.4566G>C (p.Lys1522Asn) c.5895G>C (p.Lys1965Asn) c.4098G>C (p.Lys1366Asn) | |
| 6 | g.7583157G>T | CA362689648 | DSP | c.4566G>T (p.Lys1522Asn) c.5895G>T (p.Lys1965Asn) c.4098G>T (p.Lys1366Asn) | gnomAD v4 |
| 6 | g.7583158C>A | CA362689649 | DSP | c.4567C>A (p.Leu1523Met) c.5896C>A (p.Leu1966Met) c.4099C>A (p.Leu1367Met) | |
| 6 | g.7583158C= | CA1608607396 | DSP | c.4567C= (p.Leu1523=) c.5896C= (p.Leu1966=) c.4099C= (p.Leu1367=) | |
| 6 | g.7583158C>G | CA362689650 | DSP | c.4567C>G (p.Leu1523Val) c.5896C>G (p.Leu1966Val) c.4099C>G (p.Leu1367Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583158C>T | CA448715705 | DSP | c.4567C>T (p.Leu1523=) c.5896C>T (p.Leu1966=) c.4099C>T (p.Leu1367=) | |
| 6 | g.7583159T>A | CA362689651 | DSP | c.4568T>A (p.Leu1523Gln) c.5897T>A (p.Leu1966Gln) c.4100T>A (p.Leu1367Gln) | |
| 6 | g.7583159T>C | CA362689652 | DSP | c.4568T>C (p.Leu1523Pro) c.5897T>C (p.Leu1966Pro) c.4100T>C (p.Leu1367Pro) | |
| 6 | g.7583159T>G | CA362689653 | DSP | c.4568T>G (p.Leu1523Arg) c.5897T>G (p.Leu1966Arg) c.4100T>G (p.Leu1367Arg) | |
| 6 | g.7583160G>A | CA133972647 | DSP | c.4569G>A (p.Leu1523=) c.5898G>A (p.Leu1966=) c.4101G>A (p.Leu1367=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583160G>C | CA448715709 | DSP | c.4569G>C (p.Leu1523=) c.5898G>C (p.Leu1966=) c.4101G>C (p.Leu1367=) | |
| 6 | g.7583160G= | CA1608607398 | DSP | c.4569G= (p.Leu1523=) c.5898G= (p.Leu1966=) c.4101G= (p.Leu1367=) | |
| 6 | g.7583160G>T | CA448715710 | DSP | c.4569G>T (p.Leu1523=) c.5898G>T (p.Leu1966=) c.4101G>T (p.Leu1367=) | |
| 6 | g.7583161G>A | CA006654 | DSP | c.4570G>A (p.Val1524Met) c.5899G>A (p.Val1967Met) c.4102G>A (p.Val1368Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583161G>C | CA362689654 | DSP | c.4570G>C (p.Val1524Leu) c.5899G>C (p.Val1967Leu) c.4102G>C (p.Val1368Leu) | |
| 6 | g.7583161G= | CA1608607404 | DSP | c.4570G= (p.Val1524=) c.5899G= (p.Val1967=) c.4102G= (p.Val1368=) | |
| 6 | g.7583161G>T | CA362689655 | DSP | c.4570G>T (p.Val1524Leu) c.5899G>T (p.Val1967Leu) c.4102G>T (p.Val1368Leu) | |
| 6 | g.7583162T>A | CA362689656 | DSP | c.4571T>A (p.Val1524Glu) c.5900T>A (p.Val1967Glu) c.4103T>A (p.Val1368Glu) | |
| 6 | g.7583162T>C | CA362689657 | DSP | c.4571T>C (p.Val1524Ala) c.5900T>C (p.Val1967Ala) c.4103T>C (p.Val1368Ala) | |
| 6 | g.7583162T>G | CA362689658 | DSP | c.4571T>G (p.Val1524Gly) c.5900T>G (p.Val1967Gly) c.4103T>G (p.Val1368Gly) | |
| 6 | g.7583163G>A | CA448715712 | DSP | c.4572G>A (p.Val1524=) c.5901G>A (p.Val1967=) c.4104G>A (p.Val1368=) | |
| 6 | g.7583163G>C | CA448715713 | DSP | c.4572G>C (p.Val1524=) c.5901G>C (p.Val1967=) c.4104G>C (p.Val1368=) | |
| 6 | g.7583163G>T | CA448715711 | DSP | c.4572G>T (p.Val1524=) c.5901G>T (p.Val1967=) c.4104G>T (p.Val1368=) | ClinVar dbSNP |
| 6 | g.7583164T>A | CA362689659 | DSP | c.4573T>A (p.Phe1525Ile) c.5902T>A (p.Phe1968Ile) c.4105T>A (p.Phe1369Ile) | |
| 6 | g.7583164T>C | CA362689660 | DSP | c.4573T>C (p.Phe1525Leu) c.5902T>C (p.Phe1968Leu) c.4105T>C (p.Phe1369Leu) | |
| 6 | g.7583164T>G | CA362689661 | DSP | c.4573T>G (p.Phe1525Val) c.5902T>G (p.Phe1968Val) c.4105T>G (p.Phe1369Val) | |
| 6 | g.7583165T>A | CA362689662 | DSP | c.4574T>A (p.Phe1525Tyr) c.5903T>A (p.Phe1968Tyr) c.4106T>A (p.Phe1369Tyr) | |
| 6 | g.7583165T>C | CA362689664 | DSP | c.4574T>C (p.Phe1525Ser) c.5903T>C (p.Phe1968Ser) c.4106T>C (p.Phe1369Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583165T>G | CA362689663 | DSP | c.4574T>G (p.Phe1525Cys) c.5903T>G (p.Phe1968Cys) c.4106T>G (p.Phe1369Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583165T= | CA1608607416 | DSP | c.4574T= (p.Phe1525=) c.5903T= (p.Phe1968=) c.4106T= (p.Phe1369=) | |
| 6 | g.7583166T>A | CA362689665 | DSP | c.4575T>A (p.Phe1525Leu) c.5904T>A (p.Phe1968Leu) c.4107T>A (p.Phe1369Leu) | |
| 6 | g.7583166T>C | CA046021 | DSP | c.4575T>C (p.Phe1525=) c.5904T>C (p.Phe1968=) c.4107T>C (p.Phe1369=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583166T>G | CA362689666 | DSP | c.4575T>G (p.Phe1525Leu) c.5904T>G (p.Phe1968Leu) c.4107T>G (p.Phe1369Leu) | |
| 6 | g.7583166T= | CA1608607420 | DSP | c.4575T= (p.Phe1525=) c.5904T= (p.Phe1968=) c.4107T= (p.Phe1369=) | |
| 6 | g.7583167G>A | CA362689667 | DSP | c.4576G>A (p.Asp1526Asn) c.5905G>A (p.Asp1969Asn) c.4108G>A (p.Asp1370Asn) | |
| 6 | g.7583167G>C | CA362689668 | DSP | c.4576G>C (p.Asp1526His) c.5905G>C (p.Asp1969His) c.4108G>C (p.Asp1370His) | |
| 6 | g.7583167G>T | CA362689669 | DSP | c.4576G>T (p.Asp1526Tyr) c.5905G>T (p.Asp1969Tyr) c.4108G>T (p.Asp1370Tyr) | |
| 6 | g.7583168A>C | CA362689670 | DSP | c.4577A>C (p.Asp1526Ala) c.5906A>C (p.Asp1969Ala) c.4109A>C (p.Asp1370Ala) | |
| 6 | g.7583168A>G | CA362689671 | DSP | c.4577A>G (p.Asp1526Gly) c.5906A>G (p.Asp1969Gly) c.4109A>G (p.Asp1370Gly) | |
| 6 | g.7583168A>T | CA362689672 | DSP | c.4577A>T (p.Asp1526Val) c.5906A>T (p.Asp1969Val) c.4109A>T (p.Asp1370Val) | |
| 6 | g.7583169T>A | CA362689673 | DSP | c.4578T>A (p.Asp1526Glu) c.5907T>A (p.Asp1969Glu) c.4110T>A (p.Asp1370Glu) | |
| 6 | g.7583169T>C | CA448715716 | DSP | c.4578T>C (p.Asp1526=) c.5907T>C (p.Asp1969=) c.4110T>C (p.Asp1370=) | ClinVar |
| 6 | g.7583169T>G | CA362689674 | DSP | c.4578T>G (p.Asp1526Glu) c.5907T>G (p.Asp1969Glu) c.4110T>G (p.Asp1370Glu) | |
| 6 | g.7583170G>A | CA362689675 | DSP | c.4579G>A (p.Gly1527Arg) c.5908G>A (p.Gly1970Arg) c.4111G>A (p.Gly1371Arg) | |
| 6 | g.7583170G>C | CA362689676 | DSP | c.4579G>C (p.Gly1527Arg) c.5908G>C (p.Gly1970Arg) c.4111G>C (p.Gly1371Arg) | |
| 6 | g.7583170G>T | CA362689677 | DSP | c.4579G>T (p.Gly1527Trp) c.5908G>T (p.Gly1970Trp) c.4111G>T (p.Gly1371Trp) | |
| 6 | g.7583171G>A | CA362689680 | DSP | c.4580G>A (p.Gly1527Glu) c.5909G>A (p.Gly1970Glu) c.4112G>A (p.Gly1371Glu) | dbSNP gnomAD v4 |
| 6 | g.7583171G>C | CA362689679 | DSP | c.4580G>C (p.Gly1527Ala) c.5909G>C (p.Gly1970Ala) c.4112G>C (p.Gly1371Ala) | gnomAD v4 |
| 6 | g.7583171G= | CA1608607423 | DSP | c.4580G= (p.Gly1527=) c.5909G= (p.Gly1970=) c.4112G= (p.Gly1371=) | |
| 6 | g.7583171G>T | CA362689678 | DSP | c.4580G>T (p.Gly1527Val) c.5909G>T (p.Gly1970Val) c.4112G>T (p.Gly1371Val) | |
| 6 | g.7583172G>A | CA448715718 | DSP | c.4581G>A (p.Gly1527=) c.5910G>A (p.Gly1970=) c.4113G>A (p.Gly1371=) | ClinVar |
| 6 | g.7583172G>C | CA448715719 | DSP | c.4581G>C (p.Gly1527=) c.5910G>C (p.Gly1970=) c.4113G>C (p.Gly1371=) | gnomAD v4 |
| 6 | g.7583172G>T | CA448715720 | DSP | c.4581G>T (p.Gly1527=) c.5910G>T (p.Gly1970=) c.4113G>T (p.Gly1371=) | |
| 6 | g.7583173C>A | CA362689681 | DSP | c.4582C>A (p.Leu1528Met) c.5911C>A (p.Leu1971Met) c.4114C>A (p.Leu1372Met) | |
| 6 | g.7583173C= | CA1608607424 | DSP | c.4582C= (p.Leu1528=) c.5911C= (p.Leu1971=) c.4114C= (p.Leu1372=) | |
| 6 | g.7583173C>G | CA362689682 | DSP | c.4582C>G (p.Leu1528Val) c.5911C>G (p.Leu1971Val) c.4114C>G (p.Leu1372Val) | gnomAD v4 |
| 6 | g.7583173C>T | CA133972662 | DSP | c.4582C>T (p.Leu1528=) c.5911C>T (p.Leu1971=) c.4114C>T (p.Leu1372=) | dbSNP gnomAD v4 |
| 6 | g.7583174T>A | CA362689683 | DSP | c.4583T>A (p.Leu1528Gln) c.5912T>A (p.Leu1971Gln) c.4115T>A (p.Leu1372Gln) | |
| 6 | g.7583174T>C | CA006662 | DSP | c.4583T>C (p.Leu1528Pro) c.5912T>C (p.Leu1971Pro) c.4115T>C (p.Leu1372Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583174T>G | CA362689684 | DSP | c.4583T>G (p.Leu1528Arg) c.5912T>G (p.Leu1971Arg) c.4115T>G (p.Leu1372Arg) | |
| 6 | g.7583174T= | CA1608607426 | DSP | c.4583T= (p.Leu1528=) c.5912T= (p.Leu1971=) c.4115T= (p.Leu1372=) | |
| 6 | g.7583175G>A | CA448715723 | DSP | c.4584G>A (p.Leu1528=) c.5913G>A (p.Leu1971=) c.4116G>A (p.Leu1372=) | |
| 6 | g.7583175G>C | CA448715724 | DSP | c.4584G>C (p.Leu1528=) c.5913G>C (p.Leu1971=) c.4116G>C (p.Leu1372=) | |
| 6 | g.7583175G= | CA1608607428 | DSP | c.4584G= (p.Leu1528=) c.5913G= (p.Leu1971=) c.4116G= (p.Leu1372=) | |
| 6 | g.7583175G>T | CA046044 | DSP | c.4584G>T (p.Leu1528=) c.5913G>T (p.Leu1971=) c.4116G>T (p.Leu1372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583176A>C | CA448715725 | DSP | c.4585A>C (p.Arg1529=) c.5914A>C (p.Arg1972=) c.4117A>C (p.Arg1373=) | |
| 6 | g.7583176A>G | CA362689685 | DSP | c.4585A>G (p.Arg1529Gly) c.5914A>G (p.Arg1972Gly) c.4117A>G (p.Arg1373Gly) | |
| 6 | g.7583176A>T | CA362689686 | DSP | c.4585A>T (p.Arg1529Trp) c.5914A>T (p.Arg1972Trp) c.4117A>T (p.Arg1373Trp) | |
| 6 | g.7583177G>A | CA362689687 | DSP | c.4586G>A (p.Arg1529Lys) c.5915G>A (p.Arg1972Lys) c.4118G>A (p.Arg1373Lys) | |
| 6 | g.7583177G>C | CA362689688 | DSP | c.4586G>C (p.Arg1529Thr) c.5915G>C (p.Arg1972Thr) c.4118G>C (p.Arg1373Thr) | |
| 6 | g.7583177G>T | CA362689689 | DSP | c.4586G>T (p.Arg1529Met) c.5915G>T (p.Arg1972Met) c.4118G>T (p.Arg1373Met) | COSMIC |
| 6 | g.7583178G>A | CA448715727 | DSP | c.4587G>A (p.Arg1529=) c.5916G>A (p.Arg1972=) c.4119G>A (p.Arg1373=) | ClinVar dbSNP |
| 6 | g.7583178G>C | CA362689690 | DSP | c.4587G>C (p.Arg1529Ser) c.5916G>C (p.Arg1972Ser) c.4119G>C (p.Arg1373Ser) | |
| 6 | g.7583178G= | CA1608607433 | DSP | c.4587G= (p.Arg1529=) c.5916G= (p.Arg1972=) c.4119G= (p.Arg1373=) | |
| 6 | g.7583178G>T | CA362689691 | DSP | c.4587G>T (p.Arg1529Ser) c.5916G>T (p.Arg1972Ser) c.4119G>T (p.Arg1373Ser) | |
| 6 | g.7583182_7583184del | CA2677235170 | DSP | c.4591_4593del (p.Lys1531del) c.5920_5922del (p.Lys1974del) c.4123_4125del (p.Lys1375del) | gnomAD v4 |
| 6 | g.7583179A>C | CA362689692 | DSP | c.4588A>C (p.Lys1530Gln) c.5917A>C (p.Lys1973Gln) c.4120A>C (p.Lys1374Gln) | |
| 6 | g.7583179A>G | CA362689693 | DSP | c.4588A>G (p.Lys1530Glu) c.5917A>G (p.Lys1973Glu) c.4120A>G (p.Lys1374Glu) | |
| 6 | g.7583179A>T | CA362689694 | DSP | c.4588A>T (p.Lys1530Ter) c.5917A>T (p.Lys1973Ter) c.4120A>T (p.Lys1374Ter) | |
| 6 | g.7583180A= | CA1608607435 | DSP | c.4589A= (p.Lys1530=) c.5918A= (p.Lys1973=) c.4121A= (p.Lys1374=) | |
| 6 | g.7583180A>C | CA362689695 | DSP | c.4589A>C (p.Lys1530Thr) c.5918A>C (p.Lys1973Thr) c.4121A>C (p.Lys1374Thr) | gnomAD v4 |
| 6 | g.7583180A>G | CA133973976 | DSP | c.4589A>G (p.Lys1530Arg) c.5918A>G (p.Lys1973Arg) c.4121A>G (p.Lys1374Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583180A>T | CA362689696 | DSP | c.4589A>T (p.Lys1530Met) c.5918A>T (p.Lys1973Met) c.4121A>T (p.Lys1374Met) | |
| 6 | g.7583181G>A | CA448715542 | DSP | c.4590G>A (p.Lys1530=) c.5919G>A (p.Lys1973=) c.4122G>A (p.Lys1374=) | gnomAD v4 |
| 6 | g.7583181G>C | CA362689697 | DSP | c.4590G>C (p.Lys1530Asn) c.5919G>C (p.Lys1973Asn) c.4122G>C (p.Lys1374Asn) | |
| 6 | g.7583181G>T | CA362689698 | DSP | c.4590G>T (p.Lys1530Asn) c.5919G>T (p.Lys1973Asn) c.4122G>T (p.Lys1374Asn) | |
| 6 | g.7583182A= | CA1608607443 | DSP | c.4591A= (p.Lys1531=) c.5920A= (p.Lys1974=) c.4123A= (p.Lys1375=) | |
| 6 | g.7583182A>C | CA362689699 | DSP | c.4591A>C (p.Lys1531Gln) c.5920A>C (p.Lys1974Gln) c.4123A>C (p.Lys1375Gln) | |
| 6 | g.7583182A>G | CA362689700 | DSP | c.4591A>G (p.Lys1531Glu) c.5920A>G (p.Lys1974Glu) c.4123A>G (p.Lys1375Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583182A>T | CA362689701 | DSP | c.4591A>T (p.Lys1531Ter) c.5920A>T (p.Lys1974Ter) c.4123A>T (p.Lys1375Ter) | |
| 6 | g.7583183A= | CA1608607447 | DSP | c.4592A= (p.Lys1531=) c.5921A= (p.Lys1974=) c.4124A= (p.Lys1375=) | |
| 6 | g.7583183A>C | CA362689703 | DSP | c.4592A>C (p.Lys1531Thr) c.5921A>C (p.Lys1974Thr) c.4124A>C (p.Lys1375Thr) | |
| 6 | g.7583183A>G | CA362689702 | DSP | c.4592A>G (p.Lys1531Arg) c.5921A>G (p.Lys1974Arg) c.4124A>G (p.Lys1375Arg) | |
| 6 | g.7583183A>T | CA046070 | DSP | c.4592A>T (p.Lys1531Met) c.5921A>T (p.Lys1974Met) c.4124A>T (p.Lys1375Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583184G>A | CA448715543 | DSP | c.4593G>A (p.Lys1531=) c.5922G>A (p.Lys1974=) c.4125G>A (p.Lys1375=) | dbSNP gnomAD v2 |
| 6 | g.7583184G>C | CA362689704 | DSP | c.4593G>C (p.Lys1531Asn) c.5922G>C (p.Lys1974Asn) c.4125G>C (p.Lys1375Asn) | ClinVar dbSNP |
| 6 | g.7583184G= | CA1608607450 | DSP | c.4593G= (p.Lys1531=) c.5922G= (p.Lys1974=) c.4125G= (p.Lys1375=) | |
| 6 | g.7583184G>T | CA133973994 | DSP | c.4593G>T (p.Lys1531Asn) c.5922G>T (p.Lys1974Asn) c.4125G>T (p.Lys1375Asn) | dbSNP COSMIC |
| 6 | g.7583185G>A | CA362689705 | DSP | c.4594G>A (p.Val1532Met) c.5923G>A (p.Val1975Met) c.4126G>A (p.Val1376Met) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583185G>C | CA362689706 | DSP | c.4594G>C (p.Val1532Leu) c.5923G>C (p.Val1975Leu) c.4126G>C (p.Val1376Leu) | |
| 6 | g.7583185G>T | CA362689707 | DSP | c.4594G>T (p.Val1532Leu) c.5923G>T (p.Val1975Leu) c.4126G>T (p.Val1376Leu) | |
| 6 | g.7583186T>A | CA362689708 | DSP | c.4595T>A (p.Val1532Glu) c.5924T>A (p.Val1975Glu) c.4127T>A (p.Val1376Glu) | |
| 6 | g.7583186T>C | CA362689709 | DSP | c.4595T>C (p.Val1532Ala) c.5924T>C (p.Val1975Ala) c.4127T>C (p.Val1376Ala) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583186T>G | CA362689710 | DSP | c.4595T>G (p.Val1532Gly) c.5924T>G (p.Val1975Gly) c.4127T>G (p.Val1376Gly) | |
| 6 | g.7583186T= | CA1608607456 | DSP | c.4595T= (p.Val1532=) c.5924T= (p.Val1975=) c.4127T= (p.Val1376=) | |
| 6 | g.7583187G>A | CA133973995 | DSP | c.4596G>A (p.Val1532=) c.5925G>A (p.Val1975=) c.4128G>A (p.Val1376=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583187G>C | CA448715544 | DSP | c.4596G>C (p.Val1532=) c.5925G>C (p.Val1975=) c.4128G>C (p.Val1376=) | |
| 6 | g.7583187G= | CA1608607462 | DSP | c.4596G= (p.Val1532=) c.5925G= (p.Val1975=) c.4128G= (p.Val1376=) | |
| 6 | g.7583187G>T | CA448715545 | DSP | c.4596G>T (p.Val1532=) c.5925G>T (p.Val1975=) c.4128G>T (p.Val1376=) | |
| 6 | g.7583188A>C | CA362689711 | DSP | c.4597A>C (p.Thr1533Pro) c.5926A>C (p.Thr1976Pro) c.4129A>C (p.Thr1377Pro) | |
| 6 | g.7583188A>G | CA362689712 | DSP | c.4597A>G (p.Thr1533Ala) c.5926A>G (p.Thr1976Ala) c.4129A>G (p.Thr1377Ala) | |
| 6 | g.7583188A>T | CA362689713 | DSP | c.4597A>T (p.Thr1533Ser) c.5926A>T (p.Thr1976Ser) c.4129A>T (p.Thr1377Ser) | |
| 6 | g.7583189C>A | CA362689716 | DSP | c.4598C>A (p.Thr1533Lys) c.5927C>A (p.Thr1976Lys) c.4130C>A (p.Thr1377Lys) | |
| 6 | g.7583189C>G | CA362689715 | DSP | c.4598C>G (p.Thr1533Arg) c.5927C>G (p.Thr1976Arg) c.4130C>G (p.Thr1377Arg) | gnomAD v4 |
| 6 | g.7583189C>T | CA362689714 | DSP | c.4598C>T (p.Thr1533Ile) c.5927C>T (p.Thr1976Ile) c.4130C>T (p.Thr1377Ile) | |
| 6 | g.7583190A= | CA1608607466 | DSP | c.4599A= (p.Thr1533=) c.5928A= (p.Thr1976=) c.4131A= (p.Thr1377=) | |
| 6 | g.7583190A>C | CA448715546 | DSP | c.4599A>C (p.Thr1533=) c.5928A>C (p.Thr1976=) c.4131A>C (p.Thr1377=) | |
| 6 | g.7583190A>G | CA448715547 | DSP | c.4599A>G (p.Thr1533=) c.5928A>G (p.Thr1976=) c.4131A>G (p.Thr1377=) | dbSNP |
| 6 | g.7583190A>T | CA448715548 | DSP | c.4599A>T (p.Thr1533=) c.5928A>T (p.Thr1976=) c.4131A>T (p.Thr1377=) | |
| 6 | g.7583191G>A | CA362689717 | DSP | c.4600G>A (p.Ala1534Thr) c.5929G>A (p.Ala1977Thr) c.4132G>A (p.Ala1378Thr) | |
| 6 | g.7583191G>C | CA362689719 | DSP | c.4600G>C (p.Ala1534Pro) c.5929G>C (p.Ala1977Pro) c.4132G>C (p.Ala1378Pro) | |
| 6 | g.7583191G>T | CA362689718 | DSP | c.4600G>T (p.Ala1534Ser) c.5929G>T (p.Ala1977Ser) c.4132G>T (p.Ala1378Ser) | |
| 6 | g.7583192C>A | CA362689720 | DSP | c.4601C>A (p.Ala1534Glu) c.5930C>A (p.Ala1977Glu) c.4133C>A (p.Ala1378Glu) | |
| 6 | g.7583192C>G | CA362689721 | DSP | c.4601C>G (p.Ala1534Gly) c.5930C>G (p.Ala1977Gly) c.4133C>G (p.Ala1378Gly) | |
| 6 | g.7583192C>T | CA362689722 | DSP | c.4601C>T (p.Ala1534Val) c.5930C>T (p.Ala1977Val) c.4133C>T (p.Ala1378Val) | |
| 6 | g.7583193A>C | CA448715549 | DSP | c.4602A>C (p.Ala1534=) c.5931A>C (p.Ala1977=) c.4134A>C (p.Ala1378=) | gnomAD v4 |
| 6 | g.7583193A>G | CA448715550 | DSP | c.4602A>G (p.Ala1534=) c.5931A>G (p.Ala1977=) c.4134A>G (p.Ala1378=) | |
| 6 | g.7583193A>T | CA448715551 | DSP | c.4602A>T (p.Ala1534=) c.5931A>T (p.Ala1977=) c.4134A>T (p.Ala1378=) | |
| 6 | g.7583194A= | CA1608607475 | DSP | c.4603A= (p.Met1535=) c.5932A= (p.Met1978=) c.4135A= (p.Met1379=) | |
| 6 | g.7583194A>C | CA362689723 | DSP | c.4603A>C (p.Met1535Leu) c.5932A>C (p.Met1978Leu) c.4135A>C (p.Met1379Leu) | |
| 6 | g.7583194A>G | CA046085 | DSP | c.4603A>G (p.Met1535Val) c.5932A>G (p.Met1978Val) c.4135A>G (p.Met1379Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583194A>T | CA362689724 | DSP | c.4603A>T (p.Met1535Leu) c.5932A>T (p.Met1978Leu) c.4135A>T (p.Met1379Leu) | |
| 6 | g.7583195T>A | CA362689727 | DSP | c.4604T>A (p.Met1535Lys) c.5933T>A (p.Met1978Lys) c.4136T>A (p.Met1379Lys) | |
| 6 | g.7583195T>C | CA362689726 | DSP | c.4604T>C (p.Met1535Thr) c.5933T>C (p.Met1978Thr) c.4136T>C (p.Met1379Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583195T>G | CA362689725 | DSP | c.4604T>G (p.Met1535Arg) c.5933T>G (p.Met1978Arg) c.4136T>G (p.Met1379Arg) | |
| 6 | g.7583195T= | CA1608607483 | DSP | c.4604T= (p.Met1535=) c.5933T= (p.Met1978=) c.4136T= (p.Met1379=) | |
| 6 | g.7583196G>A | CA362689728 | DSP | c.4605G>A (p.Met1535Ile) c.5934G>A (p.Met1978Ile) c.4137G>A (p.Met1379Ile) | |
| 6 | g.7583196G>C | CA362689729 | DSP | c.4605G>C (p.Met1535Ile) c.5934G>C (p.Met1978Ile) c.4137G>C (p.Met1379Ile) | ClinVar dbSNP |
| 6 | g.7583196G= | CA1608607490 | DSP | c.4605G= (p.Met1535=) c.5934G= (p.Met1978=) c.4137G= (p.Met1379=) | |
| 6 | g.7583196G>T | CA362689730 | DSP | c.4605G>T (p.Met1535Ile) c.5934G>T (p.Met1978Ile) c.4137G>T (p.Met1379Ile) | |
| 6 | g.7583197C>A | CA362689731 | DSP | c.4606C>A (p.Gln1536Lys) c.5935C>A (p.Gln1979Lys) c.4138C>A (p.Gln1380Lys) | |
| 6 | g.7583197C= | CA1608607496 | DSP | c.4606C= (p.Gln1536=) c.5935C= (p.Gln1979=) c.4138C= (p.Gln1380=) | |
| 6 | g.7583197C>G | CA046100 | DSP | c.4606C>G (p.Gln1536Glu) c.5935C>G (p.Gln1979Glu) c.4138C>G (p.Gln1380Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583197C>T | CA362689732 | DSP | c.4606C>T (p.Gln1536Ter) c.5935C>T (p.Gln1979Ter) c.4138C>T (p.Gln1380Ter) | gnomAD v4 |
| 6 | g.7583198A>C | CA362689733 | DSP | c.4607A>C (p.Gln1536Pro) c.5936A>C (p.Gln1979Pro) c.4139A>C (p.Gln1380Pro) | |
| 6 | g.7583198A>G | CA362689735 | DSP | c.4607A>G (p.Gln1536Arg) c.5936A>G (p.Gln1979Arg) c.4139A>G (p.Gln1380Arg) | |
| 6 | g.7583198A>T | CA362689734 | DSP | c.4607A>T (p.Gln1536Leu) c.5936A>T (p.Gln1979Leu) c.4139A>T (p.Gln1380Leu) | |
| 6 | g.7583199G>A | CA448715552 | DSP | c.4608G>A (p.Gln1536=) c.5937G>A (p.Gln1979=) c.4140G>A (p.Gln1380=) | |
| 6 | g.7583199G>C | CA362689736 | DSP | c.4608G>C (p.Gln1536His) c.5937G>C (p.Gln1979His) c.4140G>C (p.Gln1380His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583199G= | CA1608607513 | DSP | c.4608G= (p.Gln1536=) c.5937G= (p.Gln1979=) c.4140G= (p.Gln1380=) | |
| 6 | g.7583199G>T | CA362689737 | DSP | c.4608G>T (p.Gln1536His) c.5937G>T (p.Gln1979His) c.4140G>T (p.Gln1380His) | gnomAD v4 |
| 6 | g.7583200C>A | CA362689738 | DSP | c.4609C>A (p.Leu1537Ile) c.5938C>A (p.Leu1980Ile) c.4141C>A (p.Leu1381Ile) | |
| 6 | g.7583200C>G | CA362689739 | DSP | c.4609C>G (p.Leu1537Val) c.5938C>G (p.Leu1980Val) c.4141C>G (p.Leu1381Val) | |
| 6 | g.7583200C>T | CA362689740 | DSP | c.4609C>T (p.Leu1537Phe) c.5938C>T (p.Leu1980Phe) c.4141C>T (p.Leu1381Phe) | |
| 6 | g.7583201T>A | CA362689741 | DSP | c.4610T>A (p.Leu1537His) c.5939T>A (p.Leu1980His) c.4142T>A (p.Leu1381His) | |
| 6 | g.7583201T>C | CA362689742 | DSP | c.4610T>C (p.Leu1537Pro) c.5939T>C (p.Leu1980Pro) c.4142T>C (p.Leu1381Pro) | ClinVar dbSNP |
| 6 | g.7583201T>G | CA362689743 | DSP | c.4610T>G (p.Leu1537Arg) c.5939T>G (p.Leu1980Arg) c.4142T>G (p.Leu1381Arg) | |
| 6 | g.7583201T= | CA1608607515 | DSP | c.4610T= (p.Leu1537=) c.5939T= (p.Leu1980=) c.4142T= (p.Leu1381=) | |
| 6 | g.7583202C>A | CA448715553 | DSP | c.4611C>A (p.Leu1537=) c.5940C>A (p.Leu1980=) c.4143C>A (p.Leu1381=) | |
| 6 | g.7583202C>G | CA448715554 | DSP | c.4611C>G (p.Leu1537=) c.5940C>G (p.Leu1980=) c.4143C>G (p.Leu1381=) | |
| 6 | g.7583202C>T | CA448715555 | DSP | c.4611C>T (p.Leu1537=) c.5940C>T (p.Leu1980=) c.4143C>T (p.Leu1381=) | |
| 6 | g.7583202dup | CA913190019 | DSP | c.4611dup (p.Tyr1538LeufsTer2) c.5940dup (p.Tyr1981LeufsTer2) c.4143dup (p.Tyr1382LeufsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583203T>A | CA362689744 | DSP | c.4612T>A (p.Tyr1538Asn) c.5941T>A (p.Tyr1981Asn) c.4144T>A (p.Tyr1382Asn) | |
| 6 | g.7583203T>C | CA362689745 | DSP | c.4612T>C (p.Tyr1538His) c.5941T>C (p.Tyr1981His) c.4144T>C (p.Tyr1382His) | |
| 6 | g.7583203T>G | CA362689746 | DSP | c.4612T>G (p.Tyr1538Asp) c.5941T>G (p.Tyr1981Asp) c.4144T>G (p.Tyr1382Asp) | |
| 6 | g.7583204A= | CA1608607525 | DSP | c.4613A= (p.Tyr1538=) c.5942A= (p.Tyr1981=) c.4145A= (p.Tyr1382=) | |
| 6 | g.7583204A>C | CA362689747 | DSP | c.4613A>C (p.Tyr1538Ser) c.5942A>C (p.Tyr1981Ser) c.4145A>C (p.Tyr1382Ser) | |
| 6 | g.7583204A>G | CA362689749 | DSP | c.4613A>G (p.Tyr1538Cys) c.5942A>G (p.Tyr1981Cys) c.4145A>G (p.Tyr1382Cys) | ClinVar dbSNP COSMIC |
| 6 | g.7583204A>T | CA362689748 | DSP | c.4613A>T (p.Tyr1538Phe) c.5942A>T (p.Tyr1981Phe) c.4145A>T (p.Tyr1382Phe) | |
| 6 | g.7583205T>A | CA362689750 | DSP | c.4614T>A (p.Tyr1538Ter) c.5943T>A (p.Tyr1981Ter) c.4146T>A (p.Tyr1382Ter) | |
| 6 | g.7583205T>C | CA448715556 | DSP | c.4614T>C (p.Tyr1538=) c.5943T>C (p.Tyr1981=) c.4146T>C (p.Tyr1382=) | dbSNP |
| 6 | g.7583205T>G | CA362689751 | DSP | c.4614T>G (p.Tyr1538Ter) c.5943T>G (p.Tyr1981Ter) c.4146T>G (p.Tyr1382Ter) | |
| 6 | g.7583205T= | CA1608607530 | DSP | c.4614T= (p.Tyr1538=) c.5943T= (p.Tyr1981=) c.4146T= (p.Tyr1382=) | |
| 6 | g.7583205dup | CA2573140814 | DSP | c.4614dup (p.Glu1539Ter) c.5943dup (p.Glu1982Ter) c.4146dup (p.Glu1383Ter) | ClinVar dbSNP |
| 6 | g.7583206G>A | CA362689752 | DSP | c.4615G>A (p.Glu1539Lys) c.5944G>A (p.Glu1982Lys) c.4147G>A (p.Glu1383Lys) | |
| 6 | g.7583206G>C | CA362689753 | DSP | c.4615G>C (p.Glu1539Gln) c.5944G>C (p.Glu1982Gln) c.4147G>C (p.Glu1383Gln) | |
| 6 | g.7583206G>T | CA362689754 | DSP | c.4615G>T (p.Glu1539Ter) c.5944G>T (p.Glu1982Ter) c.4147G>T (p.Glu1383Ter) | COSMIC |
| 6 | g.7583207A>C | CA362689755 | DSP | c.4616A>C (p.Glu1539Ala) c.5945A>C (p.Glu1982Ala) c.4148A>C (p.Glu1383Ala) | |
| 6 | g.7583207A>G | CA362689756 | DSP | c.4616A>G (p.Glu1539Gly) c.5945A>G (p.Glu1982Gly) c.4148A>G (p.Glu1383Gly) | |
| 6 | g.7583207A>T | CA362689757 | DSP | c.4616A>T (p.Glu1539Val) c.5945A>T (p.Glu1982Val) c.4148A>T (p.Glu1383Val) | |
| 6 | g.7583208G>A | CA448715557 | DSP | c.4617G>A (p.Glu1539=) c.5946G>A (p.Glu1982=) c.4149G>A (p.Glu1383=) | |
| 6 | g.7583208G>C | CA362689758 | DSP | c.4617G>C (p.Glu1539Asp) c.5946G>C (p.Glu1982Asp) c.4149G>C (p.Glu1383Asp) | |
| 6 | g.7583208G>T | CA362689759 | DSP | c.4617G>T (p.Glu1539Asp) c.5946G>T (p.Glu1982Asp) c.4149G>T (p.Glu1383Asp) | |
| 6 | g.7583209T>A | CA362689760 | DSP | c.4618T>A (p.Cys1540Ser) c.5947T>A (p.Cys1983Ser) c.4150T>A (p.Cys1384Ser) | |
| 6 | g.7583209T>C | CA362689761 | DSP | c.4618T>C (p.Cys1540Arg) c.5947T>C (p.Cys1983Arg) c.4150T>C (p.Cys1384Arg) | gnomAD v4 |
| 6 | g.7583209T>G | CA362689762 | DSP | c.4618T>G (p.Cys1540Gly) c.5947T>G (p.Cys1983Gly) c.4150T>G (p.Cys1384Gly) | |
| 6 | g.7583210G>A | CA133974011 | DSP | c.4619G>A (p.Cys1540Tyr) c.5948G>A (p.Cys1983Tyr) c.4151G>A (p.Cys1384Tyr) | dbSNP gnomAD v4 |
| 6 | g.7583210G>C | CA362689764 | DSP | c.4619G>C (p.Cys1540Ser) c.5948G>C (p.Cys1983Ser) c.4151G>C (p.Cys1384Ser) | |
| 6 | g.7583210G= | CA1608607534 | DSP | c.4619G= (p.Cys1540=) c.5948G= (p.Cys1983=) c.4151G= (p.Cys1384=) | |
| 6 | g.7583210G>T | CA362689763 | DSP | c.4619G>T (p.Cys1540Phe) c.5948G>T (p.Cys1983Phe) c.4151G>T (p.Cys1384Phe) | |
| 6 | g.7583211T>A | CA362689765 | DSP | c.4620T>A (p.Cys1540Ter) c.5949T>A (p.Cys1983Ter) c.4152T>A (p.Cys1384Ter) | |
| 6 | g.7583211T>C | CA448715558 | DSP | c.4620T>C (p.Cys1540=) c.5949T>C (p.Cys1983=) c.4152T>C (p.Cys1384=) | |
| 6 | g.7583211T>G | CA362689766 | DSP | c.4620T>G (p.Cys1540Trp) c.5949T>G (p.Cys1983Trp) c.4152T>G (p.Cys1384Trp) | |
| 6 | g.7583212C>A | CA362689767 | DSP | c.4621C>A (p.Gln1541Lys) c.5950C>A (p.Gln1984Lys) c.4153C>A (p.Gln1385Lys) | |
| 6 | g.7583212C>G | CA362689768 | DSP | c.4621C>G (p.Gln1541Glu) c.5950C>G (p.Gln1984Glu) c.4153C>G (p.Gln1385Glu) | COSMIC |
| 6 | g.7583212C>T | CA362689769 | DSP | c.4621C>T (p.Gln1541Ter) c.5950C>T (p.Gln1984Ter) c.4153C>T (p.Gln1385Ter) | |
| 6 | g.7583213A= | CA1608607539 | DSP | c.4622A= (p.Gln1541=) c.5951A= (p.Gln1984=) c.4154A= (p.Gln1385=) | |
| 6 | g.7583213A>C | CA362689770 | DSP | c.4622A>C (p.Gln1541Pro) c.5951A>C (p.Gln1984Pro) c.4154A>C (p.Gln1385Pro) | |
| 6 | g.7583213A>G | CA362689771 | DSP | c.4622A>G (p.Gln1541Arg) c.5951A>G (p.Gln1984Arg) c.4154A>G (p.Gln1385Arg) | |
| 6 | g.7583213A>T | CA046112 | DSP | c.4622A>T (p.Gln1541Leu) c.5951A>T (p.Gln1984Leu) c.4154A>T (p.Gln1385Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583214G>A | CA448715559 | DSP | c.4623G>A (p.Gln1541=) c.5952G>A (p.Gln1984=) c.4155G>A (p.Gln1385=) | gnomAD v4 |
| 6 | g.7583214G>C | CA362689772 | DSP | c.4623G>C (p.Gln1541His) c.5952G>C (p.Gln1984His) c.4155G>C (p.Gln1385His) | |
| 6 | g.7583214G>T | CA362689773 | DSP | c.4623G>T (p.Gln1541His) c.5952G>T (p.Gln1984His) c.4155G>T (p.Gln1385His) | |
| 6 | g.7583215C>A | CA362689775 | DSP | c.4624C>A (p.Leu1542Met) c.5953C>A (p.Leu1985Met) c.4156C>A (p.Leu1386Met) | |
| 6 | g.7583215C= | CA1608607541 | DSP | c.4624C= (p.Leu1542=) c.5953C= (p.Leu1985=) c.4156C= (p.Leu1386=) | |
| 6 | g.7583215C>G | CA362689774 | DSP | c.4624C>G (p.Leu1542Val) c.5953C>G (p.Leu1985Val) c.4156C>G (p.Leu1386Val) | dbSNP |
| 6 | g.7583215C>T | CA448715560 | DSP | c.4624C>T (p.Leu1542=) c.5953C>T (p.Leu1985=) c.4156C>T (p.Leu1386=) | ClinVar dbSNP |