| 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.7585027T>A | CA362693730 | DSP | c.6436T>A (p.Ser2146Thr) c.7765T>A (p.Ser2589Thr) c.5968T>A (p.Ser1990Thr) | |
| 6 | g.7585027T>C | CA362693729 | DSP | c.6436T>C (p.Ser2146Pro) c.7765T>C (p.Ser2589Pro) c.5968T>C (p.Ser1990Pro) | |
| 6 | g.7585027T>G | CA362693728 | DSP | c.6436T>G (p.Ser2146Ala) c.7765T>G (p.Ser2589Ala) c.5968T>G (p.Ser1990Ala) | |
| 6 | g.7585028C>A | CA362693731 | DSP | c.6437C>A (p.Ser2146Ter) c.7766C>A (p.Ser2589Ter) c.5969C>A (p.Ser1990Ter) | |
| 6 | g.7585028C= | CA1608613064 | DSP | c.6437C= (p.Ser2146=) c.7766C= (p.Ser2589=) c.5969C= (p.Ser1990=) | |
| 6 | g.7585028C>G | CA362693732 | DSP | c.6437C>G (p.Ser2146Ter) c.7766C>G (p.Ser2589Ter) c.5969C>G (p.Ser1990Ter) | |
| 6 | g.7585028C>T | CA362693733 | DSP | c.6437C>T (p.Ser2146Leu) c.7766C>T (p.Ser2589Leu) c.5969C>T (p.Ser1990Leu) | dbSNP |
| 6 | g.7585028_7585032delinsCAGTA | CA1608613063 | DSP | c.6437_6441delinsCAGTA (p.Ser2146=) c.7766_7770delinsCAGTA (p.Ser2589=) c.5969_5973delinsCAGTA (p.Ser1990=) | |
| 6 | g.7585029A= | CA1608613077 | DSP | c.6438A= (p.Ser2146=) c.7767A= (p.Ser2589=) c.5970A= (p.Ser1990=) | |
| 6 | g.7585029A>C | CA448716438 | DSP | c.6438A>C (p.Ser2146=) c.7767A>C (p.Ser2589=) c.5970A>C (p.Ser1990=) | |
| 6 | g.7585029A>G | CA050668 | DSP | c.6438A>G (p.Ser2146=) c.7767A>G (p.Ser2589=) c.5970A>G (p.Ser1990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585029A>T | CA448716440 | DSP | c.6438A>T (p.Ser2146=) c.7767A>T (p.Ser2589=) c.5970A>T (p.Ser1990=) | |
| 6 | g.7585035_7585038del | CA050660 | DSP | c.6444_6447del (p.Ser2148ArgfsTer11) c.7773_7776del (p.Ser2591ArgfsTer11) c.5976_5979del (p.Ser1992ArgfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585030G>A | CA362693734 | DSP | c.6439G>A (p.Val2147Ile) c.7768G>A (p.Val2590Ile) c.5971G>A (p.Val1991Ile) | ClinVar |
| 6 | g.7585030G>C | CA362693735 | DSP | c.6439G>C (p.Val2147Leu) c.7768G>C (p.Val2590Leu) c.5971G>C (p.Val1991Leu) | |
| 6 | g.7585030G>T | CA362693736 | DSP | c.6439G>T (p.Val2147Leu) c.7768G>T (p.Val2590Leu) c.5971G>T (p.Val1991Leu) | |
| 6 | g.7585031T>A | CA362693737 | DSP | c.6440T>A (p.Val2147Glu) c.7769T>A (p.Val2590Glu) c.5972T>A (p.Val1991Glu) | |
| 6 | g.7585031T>C | CA362693738 | DSP | c.6440T>C (p.Val2147Ala) c.7769T>C (p.Val2590Ala) c.5972T>C (p.Val1991Ala) | |
| 6 | g.7585031T>G | CA362693739 | DSP | c.6440T>G (p.Val2147Gly) c.7769T>G (p.Val2590Gly) c.5972T>G (p.Val1991Gly) | |
| 6 | g.7585032A>C | CA448716448 | DSP | c.6441A>C (p.Val2147=) c.7770A>C (p.Val2590=) c.5973A>C (p.Val1991=) | |
| 6 | g.7585032A>G | CA448716449 | DSP | c.6441A>G (p.Val2147=) c.7770A>G (p.Val2590=) c.5973A>G (p.Val1991=) | |
| 6 | g.7585032A>T | CA448716450 | DSP | c.6441A>T (p.Val2147=) c.7770A>T (p.Val2590=) c.5973A>T (p.Val1991=) | |
| 6 | g.7585033A>C | CA362693742 | DSP | c.6442A>C (p.Ser2148Arg) c.7771A>C (p.Ser2591Arg) c.5974A>C (p.Ser1992Arg) | |
| 6 | g.7585033A>G | CA362693741 | DSP | c.6442A>G (p.Ser2148Gly) c.7771A>G (p.Ser2591Gly) c.5974A>G (p.Ser1992Gly) | |
| 6 | g.7585033A>T | CA362693740 | DSP | c.6442A>T (p.Ser2148Cys) c.7771A>T (p.Ser2591Cys) c.5974A>T (p.Ser1992Cys) | |
| 6 | g.7585034G>A | CA362693743 | DSP | c.6443G>A (p.Ser2148Asn) c.7772G>A (p.Ser2591Asn) c.5975G>A (p.Ser1992Asn) | |
| 6 | g.7585034G>C | CA362693744 | DSP | c.6443G>C (p.Ser2148Thr) c.7772G>C (p.Ser2591Thr) c.5975G>C (p.Ser1992Thr) | |
| 6 | g.7585034G>T | CA362693745 | DSP | c.6443G>T (p.Ser2148Ile) c.7772G>T (p.Ser2591Ile) c.5975G>T (p.Ser1992Ile) | |
| 6 | g.7585035T>A | CA362693746 | DSP | c.6444T>A (p.Ser2148Arg) c.7773T>A (p.Ser2591Arg) c.5976T>A (p.Ser1992Arg) | |
| 6 | g.7585035T>C | CA448716464 | DSP | c.6444T>C (p.Ser2148=) c.7773T>C (p.Ser2591=) c.5976T>C (p.Ser1992=) | |
| 6 | g.7585035T>G | CA362693747 | DSP | c.6444T>G (p.Ser2148Arg) c.7773T>G (p.Ser2591Arg) c.5976T>G (p.Ser1992Arg) | |
| 6 | g.7585036A>C | CA362693748 | DSP | c.6445A>C (p.Lys2149Gln) c.7774A>C (p.Lys2592Gln) c.5977A>C (p.Lys1993Gln) | |
| 6 | g.7585036A>G | CA362693749 | DSP | c.6445A>G (p.Lys2149Glu) c.7774A>G (p.Lys2592Glu) c.5977A>G (p.Lys1993Glu) | |
| 6 | g.7585036A>T | CA362693750 | DSP | c.6445A>T (p.Lys2149Ter) c.7774A>T (p.Lys2592Ter) c.5977A>T (p.Lys1993Ter) | |
| 6 | g.7585037A>C | CA362693751 | DSP | c.6446A>C (p.Lys2149Thr) c.7775A>C (p.Lys2592Thr) c.5978A>C (p.Lys1993Thr) | |
| 6 | g.7585037A>G | CA362693752 | DSP | c.6446A>G (p.Lys2149Arg) c.7775A>G (p.Lys2592Arg) c.5978A>G (p.Lys1993Arg) | gnomAD v4 |
| 6 | g.7585037A>T | CA362693753 | DSP | c.6446A>T (p.Lys2149Met) c.7775A>T (p.Lys2592Met) c.5978A>T (p.Lys1993Met) | |
| 6 | g.7585038G>A | CA448716467 | DSP | c.6447G>A (p.Lys2149=) c.7776G>A (p.Lys2592=) c.5979G>A (p.Lys1993=) | gnomAD v4 |
| 6 | g.7585038G>C | CA362693754 | DSP | c.6447G>C (p.Lys2149Asn) c.7776G>C (p.Lys2592Asn) c.5979G>C (p.Lys1993Asn) | ClinVar |
| 6 | g.7585038G>T | CA362693755 | DSP | c.6447G>T (p.Lys2149Asn) c.7776G>T (p.Lys2592Asn) c.5979G>T (p.Lys1993Asn) | |
| 6 | g.7585039A>C | CA362693757 | DSP | c.6448A>C (p.Ile2150Leu) c.7777A>C (p.Ile2593Leu) c.5980A>C (p.Ile1994Leu) | |
| 6 | g.7585039A>G | CA362693758 | DSP | c.6448A>G (p.Ile2150Val) c.7777A>G (p.Ile2593Val) c.5980A>G (p.Ile1994Val) | |
| 6 | g.7585039A>T | CA362693756 | DSP | c.6448A>T (p.Ile2150Phe) c.7777A>T (p.Ile2593Phe) c.5980A>T (p.Ile1994Phe) | |
| 6 | g.7585039_7585040delinsAT | CA1608613082 | DSP | c.6448_6449delinsAT (p.Ile2150=) c.7777_7778delinsAT (p.Ile2593=) c.5980_5981delinsAT (p.Ile1994=) | |
| 6 | g.7585040T>A | CA133976610 | DSP | c.6449T>A (p.Ile2150Asn) c.7778T>A (p.Ile2593Asn) c.5981T>A (p.Ile1994Asn) | dbSNP |
| 6 | g.7585040T>C | CA362693759 | DSP | c.6449T>C (p.Ile2150Thr) c.7778T>C (p.Ile2593Thr) c.5981T>C (p.Ile1994Thr) | |
| 6 | g.7585040T>G | CA050795 | DSP | c.6449T>G (p.Ile2150Ser) c.7778T>G (p.Ile2593Ser) c.5981T>G (p.Ile1994Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7585040T= | CA1608613088 | DSP | c.6449T= (p.Ile2150=) c.7778T= (p.Ile2593=) c.5981T= (p.Ile1994=) | |
| 6 | g.7585042dup | CA2580075383 | DSP | c.6451dup (p.Ser2151PhefsTer?) c.7780dup (p.Ser2594PhefsTer?) c.5983dup (p.Ser1995PhefsTer?) | ClinVar |
| 6 | g.7585042del | CA007274 | DSP | c.6451del (p.Ser2151ProfsTer9) c.7780del (p.Ser2594ProfsTer9) c.5983del (p.Ser1995ProfsTer9) | ClinVar dbSNP |
| 6 | g.7585041T>A | CA448716477 | DSP | c.6450T>A (p.Ile2150=) c.7779T>A (p.Ile2593=) c.5982T>A (p.Ile1994=) | ClinVar |
| 6 | g.7585041T>C | CA448716478 | DSP | c.6450T>C (p.Ile2150=) c.7779T>C (p.Ile2593=) c.5982T>C (p.Ile1994=) | |
| 6 | g.7585041T>G | CA362693760 | DSP | c.6450T>G (p.Ile2150Met) c.7779T>G (p.Ile2593Met) c.5982T>G (p.Ile1994Met) | |
| 6 | g.7585042T>A | CA362693761 | DSP | c.6451T>A (p.Ser2151Thr) c.7780T>A (p.Ser2594Thr) c.5983T>A (p.Ser1995Thr) | |
| 6 | g.7585042T>C | CA362693762 | DSP | c.6451T>C (p.Ser2151Pro) c.7780T>C (p.Ser2594Pro) c.5983T>C (p.Ser1995Pro) | |
| 6 | g.7585042T>G | CA362693763 | DSP | c.6451T>G (p.Ser2151Ala) c.7780T>G (p.Ser2594Ala) c.5983T>G (p.Ser1995Ala) | |
| 6 | g.7585043C>A | CA362693764 | DSP | c.6452C>A (p.Ser2151Tyr) c.7781C>A (p.Ser2594Tyr) c.5984C>A (p.Ser1995Tyr) | |
| 6 | g.7585043C>G | CA362693765 | DSP | c.6452C>G (p.Ser2151Cys) c.7781C>G (p.Ser2594Cys) c.5984C>G (p.Ser1995Cys) | |
| 6 | g.7585043C>T | CA362693766 | DSP | c.6452C>T (p.Ser2151Phe) c.7781C>T (p.Ser2594Phe) c.5984C>T (p.Ser1995Phe) | gnomAD v4 |
| 6 | g.7585044C>A | CA448716485 | DSP | c.6453C>A (p.Ser2151=) c.7782C>A (p.Ser2594=) c.5985C>A (p.Ser1995=) | gnomAD v4 |
| 6 | g.7585044C>G | CA448716487 | DSP | c.6453C>G (p.Ser2151=) c.7782C>G (p.Ser2594=) c.5985C>G (p.Ser1995=) | |
| 6 | g.7585044C>T | CA448716486 | DSP | c.6453C>T (p.Ser2151=) c.7782C>T (p.Ser2594=) c.5985C>T (p.Ser1995=) | gnomAD v4 |
| 6 | g.7585045A= | CA1608613096 | DSP | c.6454A= (p.Thr2152=) c.7783A= (p.Thr2595=) c.5986A= (p.Thr1996=) | |
| 6 | g.7585045A>C | CA362693767 | DSP | c.6454A>C (p.Thr2152Pro) c.7783A>C (p.Thr2595Pro) c.5986A>C (p.Thr1996Pro) | |
| 6 | g.7585045A>G | CA362693768 | DSP | c.6454A>G (p.Thr2152Ala) c.7783A>G (p.Thr2595Ala) c.5986A>G (p.Thr1996Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585045A>T | CA362693769 | DSP | c.6454A>T (p.Thr2152Ser) c.7783A>T (p.Thr2595Ser) c.5986A>T (p.Thr1996Ser) | |
| 6 | g.7585046C>A | CA362693770 | DSP | c.6455C>A (p.Thr2152Asn) c.7784C>A (p.Thr2595Asn) c.5987C>A (p.Thr1996Asn) | |
| 6 | g.7585046C= | CA1608613100 | DSP | c.6455C= (p.Thr2152=) c.7784C= (p.Thr2595=) c.5987C= (p.Thr1996=) | |
| 6 | g.7585046C>G | CA133976625 | DSP | c.6455C>G (p.Thr2152Ser) c.7784C>G (p.Thr2595Ser) c.5987C>G (p.Thr1996Ser) | dbSNP gnomAD v4 |
| 6 | g.7585046C>T | CA050845 | DSP | c.6455C>T (p.Thr2152Ile) c.7784C>T (p.Thr2595Ile) c.5987C>T (p.Thr1996Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585047C>A | CA448716496 | DSP | c.6456C>A (p.Thr2152=) c.7785C>A (p.Thr2595=) c.5988C>A (p.Thr1996=) | |
| 6 | g.7585047C>G | CA448716500 | DSP | c.6456C>G (p.Thr2152=) c.7785C>G (p.Thr2595=) c.5988C>G (p.Thr1996=) | |
| 6 | g.7585047C>T | CA448716502 | DSP | c.6456C>T (p.Thr2152=) c.7785C>T (p.Thr2595=) c.5988C>T (p.Thr1996=) | |
| 6 | g.7585048A>C | CA362693771 | DSP | c.6457A>C (p.Ile2153Leu) c.7786A>C (p.Ile2596Leu) c.5989A>C (p.Ile1997Leu) | |
| 6 | g.7585048A>G | CA362693772 | DSP | c.6457A>G (p.Ile2153Val) c.7786A>G (p.Ile2596Val) c.5989A>G (p.Ile1997Val) | |
| 6 | g.7585048A>T | CA362693773 | DSP | c.6457A>T (p.Ile2153Leu) c.7786A>T (p.Ile2596Leu) c.5989A>T (p.Ile1997Leu) | |
| 6 | g.7585049T>A | CA362693774 | DSP | c.6458T>A (p.Ile2153Lys) c.7787T>A (p.Ile2596Lys) c.5990T>A (p.Ile1997Lys) | |
| 6 | g.7585049T>C | CA050859 | DSP | c.6458T>C (p.Ile2153Thr) c.7787T>C (p.Ile2596Thr) c.5990T>C (p.Ile1997Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585049T>G | CA362693775 | DSP | c.6458T>G (p.Ile2153Arg) c.7787T>G (p.Ile2596Arg) c.5990T>G (p.Ile1997Arg) | |
| 6 | g.7585049T= | CA1608613108 | DSP | c.6458T= (p.Ile2153=) c.7787T= (p.Ile2596=) c.5990T= (p.Ile1997=) | |
| 6 | g.7585050A>C | CA448716511 | DSP | c.6459A>C (p.Ile2153=) c.7788A>C (p.Ile2596=) c.5991A>C (p.Ile1997=) | |
| 6 | g.7585050A>G | CA362693776 | DSP | c.6459A>G (p.Ile2153Met) c.7788A>G (p.Ile2596Met) c.5991A>G (p.Ile1997Met) | |
| 6 | g.7585050A>T | CA448716513 | DSP | c.6459A>T (p.Ile2153=) c.7788A>T (p.Ile2596=) c.5991A>T (p.Ile1997=) | |
| 6 | g.7585051T>A | CA362693777 | DSP | c.6460T>A (p.Ser2154Thr) c.7789T>A (p.Ser2597Thr) c.5992T>A (p.Ser1998Thr) | |
| 6 | g.7585051T>C | CA362693778 | DSP | c.6460T>C (p.Ser2154Pro) c.7789T>C (p.Ser2597Pro) c.5992T>C (p.Ser1998Pro) | gnomAD v4 |
| 6 | g.7585051T>G | CA362693779 | DSP | c.6460T>G (p.Ser2154Ala) c.7789T>G (p.Ser2597Ala) c.5992T>G (p.Ser1998Ala) | |
| 6 | g.7585052C>A | CA362693780 | DSP | c.6461C>A (p.Ser2154Tyr) c.7790C>A (p.Ser2597Tyr) c.5993C>A (p.Ser1998Tyr) | |
| 6 | g.7585052C>G | CA362693781 | DSP | c.6461C>G (p.Ser2154Cys) c.7790C>G (p.Ser2597Cys) c.5993C>G (p.Ser1998Cys) | |
| 6 | g.7585052C>T | CA362693782 | DSP | c.6461C>T (p.Ser2154Phe) c.7790C>T (p.Ser2597Phe) c.5993C>T (p.Ser1998Phe) | COSMIC |
| 6 | g.7585053C>A | CA448716522 | DSP | c.6462C>A (p.Ser2154=) c.7791C>A (p.Ser2597=) c.5994C>A (p.Ser1998=) | ClinVar |
| 6 | g.7585053C>G | CA448716523 | DSP | c.6462C>G (p.Ser2154=) c.7791C>G (p.Ser2597=) c.5994C>G (p.Ser1998=) | gnomAD v4 |
| 6 | g.7585053C>T | CA448716525 | DSP | c.6462C>T (p.Ser2154=) c.7791C>T (p.Ser2597=) c.5994C>T (p.Ser1998=) | gnomAD v4 |
| 6 | g.7585054A= | CA1608613115 | DSP | c.6463A= (p.Ser2155=) c.7792A= (p.Ser2598=) c.5995A= (p.Ser1999=) | |
| 6 | g.7585054A>C | CA362693783 | DSP | c.6463A>C (p.Ser2155Arg) c.7792A>C (p.Ser2598Arg) c.5995A>C (p.Ser1999Arg) | |
| 6 | g.7585054A>G | CA362693785 | DSP | c.6463A>G (p.Ser2155Gly) c.7792A>G (p.Ser2598Gly) c.5995A>G (p.Ser1999Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585054A>T | CA362693784 | DSP | c.6463A>T (p.Ser2155Cys) c.7792A>T (p.Ser2598Cys) c.5995A>T (p.Ser1999Cys) | ClinVar dbSNP |
| 6 | g.7585055G>A | CA362693786 | DSP | c.6464G>A (p.Ser2155Asn) c.7793G>A (p.Ser2598Asn) c.5996G>A (p.Ser1999Asn) | |
| 6 | g.7585055G>C | CA362693787 | DSP | c.6464G>C (p.Ser2155Thr) c.7793G>C (p.Ser2598Thr) c.5996G>C (p.Ser1999Thr) | |
| 6 | g.7585055G>T | CA362693788 | DSP | c.6464G>T (p.Ser2155Ile) c.7793G>T (p.Ser2598Ile) c.5996G>T (p.Ser1999Ile) | |
| 6 | g.7585056C>A | CA362693789 | DSP | c.6465C>A (p.Ser2155Arg) c.7794C>A (p.Ser2598Arg) c.5997C>A (p.Ser1999Arg) | |
| 6 | g.7585056C= | CA1608613124 | DSP | c.6465C= (p.Ser2155=) c.7794C= (p.Ser2598=) c.5997C= (p.Ser1999=) | |
| 6 | g.7585056C>G | CA362693790 | DSP | c.6465C>G (p.Ser2155Arg) c.7794C>G (p.Ser2598Arg) c.5997C>G (p.Ser1999Arg) | |
| 6 | g.7585056C>T | CA050879 | DSP | c.6465C>T (p.Ser2155=) c.7794C>T (p.Ser2598=) c.5997C>T (p.Ser1999=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585057G>A | CA362693793 | DSP | c.6466G>A (p.Val2156Ile) c.7795G>A (p.Val2599Ile) c.5998G>A (p.Val2000Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585057G>C | CA362693791 | DSP | c.6466G>C (p.Val2156Leu) c.7795G>C (p.Val2599Leu) c.5998G>C (p.Val2000Leu) | |
| 6 | g.7585057G= | CA1608613130 | DSP | c.6466G= (p.Val2156=) c.7795G= (p.Val2599=) c.5998G= (p.Val2000=) | |
| 6 | g.7585057G>T | CA362693792 | DSP | c.6466G>T (p.Val2156Phe) c.7795G>T (p.Val2599Phe) c.5998G>T (p.Val2000Phe) | |
| 6 | g.7585058T>A | CA362693794 | DSP | c.6467T>A (p.Val2156Asp) c.7796T>A (p.Val2599Asp) c.5999T>A (p.Val2000Asp) | |
| 6 | g.7585058T>C | CA362693795 | DSP | c.6467T>C (p.Val2156Ala) c.7796T>C (p.Val2599Ala) c.5999T>C (p.Val2000Ala) | |
| 6 | g.7585058T>G | CA362693796 | DSP | c.6467T>G (p.Val2156Gly) c.7796T>G (p.Val2599Gly) c.5999T>G (p.Val2000Gly) | |
| 6 | g.7585059C>A | CA448716542 | DSP | c.6468C>A (p.Val2156=) c.7797C>A (p.Val2599=) c.6000C>A (p.Val2000=) | |
| 6 | g.7585059C>G | CA448716546 | DSP | c.6468C>G (p.Val2156=) c.7797C>G (p.Val2599=) c.6000C>G (p.Val2000=) | |
| 6 | g.7585059C>T | CA448716547 | DSP | c.6468C>T (p.Val2156=) c.7797C>T (p.Val2599=) c.6000C>T (p.Val2000=) | |
| 6 | g.7585060A>C | CA448716548 | DSP | c.6469A>C (p.Arg2157=) c.7798A>C (p.Arg2600=) c.6001A>C (p.Arg2001=) | |
| 6 | g.7585060A>G | CA362693797 | DSP | c.6469A>G (p.Arg2157Gly) c.7798A>G (p.Arg2600Gly) c.6001A>G (p.Arg2001Gly) | |
| 6 | g.7585060A>T | CA362693798 | DSP | c.6469A>T (p.Arg2157Trp) c.7798A>T (p.Arg2600Trp) c.6001A>T (p.Arg2001Trp) | |
| 6 | g.7585061G>A | CA362693799 | DSP | c.6470G>A (p.Arg2157Lys) c.7799G>A (p.Arg2600Lys) c.6002G>A (p.Arg2001Lys) | |
| 6 | g.7585061G>C | CA362693801 | DSP | c.6470G>C (p.Arg2157Thr) c.7799G>C (p.Arg2600Thr) c.6002G>C (p.Arg2001Thr) | |
| 6 | g.7585061G>T | CA362693800 | DSP | c.6470G>T (p.Arg2157Met) c.7799G>T (p.Arg2600Met) c.6002G>T (p.Arg2001Met) | |
| 6 | g.7585062G>A | CA133976636 | DSP | c.6471G>A (p.Arg2157=) c.7800G>A (p.Arg2600=) c.6003G>A (p.Arg2001=) | dbSNP |
| 6 | g.7585062G>C | CA362693802 | DSP | c.6471G>C (p.Arg2157Ser) c.7800G>C (p.Arg2600Ser) c.6003G>C (p.Arg2001Ser) | |
| 6 | g.7585062G= | CA1608613143 | DSP | c.6471G= (p.Arg2157=) c.7800G= (p.Arg2600=) c.6003G= (p.Arg2001=) | |
| 6 | g.7585062G>T | CA362693803 | DSP | c.6471G>T (p.Arg2157Ser) c.7800G>T (p.Arg2600Ser) c.6003G>T (p.Arg2001Ser) | |
| 6 | g.7585063A>C | CA362693804 | DSP | c.6472A>C (p.Asn2158His) c.7801A>C (p.Asn2601His) c.6004A>C (p.Asn2002His) | |
| 6 | g.7585063A>G | CA362693805 | DSP | c.6472A>G (p.Asn2158Asp) c.7801A>G (p.Asn2601Asp) c.6004A>G (p.Asn2002Asp) | |
| 6 | g.7585063A>T | CA362693806 | DSP | c.6472A>T (p.Asn2158Tyr) c.7801A>T (p.Asn2601Tyr) c.6004A>T (p.Asn2002Tyr) | |
| 6 | g.7585064A= | CA1608613146 | DSP | c.6473A= (p.Asn2158=) c.7802A= (p.Asn2601=) c.6005A= (p.Asn2002=) | |
| 6 | g.7585064A>C | CA362693807 | DSP | c.6473A>C (p.Asn2158Thr) c.7802A>C (p.Asn2601Thr) c.6005A>C (p.Asn2002Thr) | COSMIC |
| 6 | g.7585064A>G | CA362693808 | DSP | c.6473A>G (p.Asn2158Ser) c.7802A>G (p.Asn2601Ser) c.6005A>G (p.Asn2002Ser) | dbSNP |
| 6 | g.7585064A>T | CA362693809 | DSP | c.6473A>T (p.Asn2158Ile) c.7802A>T (p.Asn2601Ile) c.6005A>T (p.Asn2002Ile) | |
| 6 | g.7585065T>A | CA362693810 | DSP | c.6474T>A (p.Asn2158Lys) c.7803T>A (p.Asn2601Lys) c.6006T>A (p.Asn2002Lys) | |
| 6 | g.7585065T>C | CA448716563 | DSP | c.6474T>C (p.Asn2158=) c.7803T>C (p.Asn2601=) c.6006T>C (p.Asn2002=) | |
| 6 | g.7585065T>G | CA362693811 | DSP | c.6474T>G (p.Asn2158Lys) c.7803T>G (p.Asn2601Lys) c.6006T>G (p.Asn2002Lys) | |
| 6 | g.7585066T>A | CA362693812 | DSP | c.6475T>A (p.Leu2159Ile) c.7804T>A (p.Leu2602Ile) c.6007T>A (p.Leu2003Ile) | |
| 6 | g.7585066T>C | CA448716567 | DSP | c.6475T>C (p.Leu2159=) c.7804T>C (p.Leu2602=) c.6007T>C (p.Leu2003=) | |
| 6 | g.7585066T>G | CA050892 | DSP | c.6475T>G (p.Leu2159Val) c.7804T>G (p.Leu2602Val) c.6007T>G (p.Leu2003Val) | dbSNP ExAC gnomAD v2 COSMIC |
| 6 | g.7585066T= | CA1608613154 | DSP | c.6475T= (p.Leu2159=) c.7804T= (p.Leu2602=) c.6007T= (p.Leu2003=) | |
| 6 | g.7585067T>A | CA362693813 | DSP | c.6476T>A (p.Leu2159Ter) c.7805T>A (p.Leu2602Ter) c.6008T>A (p.Leu2003Ter) | |
| 6 | g.7585067T>C | CA362693815 | DSP | c.6476T>C (p.Leu2159Ser) c.7805T>C (p.Leu2602Ser) c.6008T>C (p.Leu2003Ser) | |
| 6 | g.7585067T>G | CA362693814 | DSP | c.6476T>G (p.Leu2159Ter) c.7805T>G (p.Leu2602Ter) c.6008T>G (p.Leu2003Ter) | |
| 6 | g.7585068A>C | CA362693816 | DSP | c.6477A>C (p.Leu2159Phe) c.7806A>C (p.Leu2602Phe) c.6009A>C (p.Leu2003Phe) | |
| 6 | g.7585068A>G | CA448716572 | DSP | c.6477A>G (p.Leu2159=) c.7806A>G (p.Leu2602=) c.6009A>G (p.Leu2003=) | |
| 6 | g.7585068A>T | CA362693817 | DSP | c.6477A>T (p.Leu2159Phe) c.7806A>T (p.Leu2602Phe) c.6009A>T (p.Leu2003Phe) | |
| 6 | g.7585069A>C | CA362693818 | DSP | c.6478A>C (p.Thr2160Pro) c.7807A>C (p.Thr2603Pro) c.6010A>C (p.Thr2004Pro) | |
| 6 | g.7585069A>G | CA362693820 | DSP | c.6478A>G (p.Thr2160Ala) c.7807A>G (p.Thr2603Ala) c.6010A>G (p.Thr2004Ala) | |
| 6 | g.7585069A>T | CA362693819 | DSP | c.6478A>T (p.Thr2160Ser) c.7807A>T (p.Thr2603Ser) c.6010A>T (p.Thr2004Ser) | |
| 6 | g.7585070C>A | CA362693821 | DSP | c.6479C>A (p.Thr2160Asn) c.7808C>A (p.Thr2603Asn) c.6011C>A (p.Thr2004Asn) | |
| 6 | g.7585070C>G | CA362693823 | DSP | c.6479C>G (p.Thr2160Ser) c.7808C>G (p.Thr2603Ser) c.6011C>G (p.Thr2004Ser) | |
| 6 | g.7585070C>T | CA362693822 | DSP | c.6479C>T (p.Thr2160Ile) c.7808C>T (p.Thr2603Ile) c.6011C>T (p.Thr2004Ile) | COSMIC |
| 6 | g.7585071C>A | CA448716577 | DSP | c.6480C>A (p.Thr2160=) c.7809C>A (p.Thr2603=) c.6012C>A (p.Thr2004=) | |
| 6 | g.7585071C= | CA1608613162 | DSP | c.6480C= (p.Thr2160=) c.7809C= (p.Thr2603=) c.6012C= (p.Thr2004=) | |
| 6 | g.7585071C>G | CA448716579 | DSP | c.6480C>G (p.Thr2160=) c.7809C>G (p.Thr2603=) c.6012C>G (p.Thr2004=) | |
| 6 | g.7585071C>T | CA448716581 | DSP | c.6480C>T (p.Thr2160=) c.7809C>T (p.Thr2603=) c.6012C>T (p.Thr2004=) | ClinVar dbSNP |
| 6 | g.7585072A= | CA1608613168 | DSP | c.6481A= (p.Ile2161=) c.7810A= (p.Ile2604=) c.6013A= (p.Ile2005=) | |
| 6 | g.7585072A>C | CA362693824 | DSP | c.6481A>C (p.Ile2161Leu) c.7810A>C (p.Ile2604Leu) c.6013A>C (p.Ile2005Leu) | |
| 6 | g.7585072A>G | CA362693825 | DSP | c.6481A>G (p.Ile2161Val) c.7810A>G (p.Ile2604Val) c.6013A>G (p.Ile2005Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585072A>T | CA362693826 | DSP | c.6481A>T (p.Ile2161Leu) c.7810A>T (p.Ile2604Leu) c.6013A>T (p.Ile2005Leu) | |
| 6 | g.7585073T>A | CA362693827 | DSP | c.6482T>A (p.Ile2161Lys) c.7811T>A (p.Ile2604Lys) c.6014T>A (p.Ile2005Lys) | |
| 6 | g.7585073T>C | CA362693828 | DSP | c.6482T>C (p.Ile2161Thr) c.7811T>C (p.Ile2604Thr) c.6014T>C (p.Ile2005Thr) | |
| 6 | g.7585073T>G | CA362693829 | DSP | c.6482T>G (p.Ile2161Arg) c.7811T>G (p.Ile2604Arg) c.6014T>G (p.Ile2005Arg) | gnomAD v4 |
| 6 | g.7585074A= | CA1608613173 | DSP | c.6483A= (p.Ile2161=) c.7812A= (p.Ile2604=) c.6015A= (p.Ile2005=) | |
| 6 | g.7585074A>C | CA448716586 | DSP | c.6483A>C (p.Ile2161=) c.7812A>C (p.Ile2604=) c.6015A>C (p.Ile2005=) | |
| 6 | g.7585074A>G | CA362693830 | DSP | c.6483A>G (p.Ile2161Met) c.7812A>G (p.Ile2604Met) c.6015A>G (p.Ile2005Met) | dbSNP gnomAD v4 |
| 6 | g.7585074A>T | CA448716587 | DSP | c.6483A>T (p.Ile2161=) c.7812A>T (p.Ile2604=) c.6015A>T (p.Ile2005=) | |
| 6 | g.7585075A>C | CA448716588 | DSP | c.6484A>C (p.Arg2162=) c.7813A>C (p.Arg2605=) c.6016A>C (p.Arg2006=) | |
| 6 | g.7585075A>G | CA362693831 | DSP | c.6484A>G (p.Arg2162Gly) c.7813A>G (p.Arg2605Gly) c.6016A>G (p.Arg2006Gly) | |
| 6 | g.7585075A>T | CA362693832 | DSP | c.6484A>T (p.Arg2162Trp) c.7813A>T (p.Arg2605Trp) c.6016A>T (p.Arg2006Trp) | |
| 6 | g.7585076G>A | CA362693833 | DSP | c.6485G>A (p.Arg2162Lys) c.7814G>A (p.Arg2605Lys) c.6017G>A (p.Arg2006Lys) | gnomAD v4 |
| 6 | g.7585076G>C | CA362693834 | DSP | c.6485G>C (p.Arg2162Thr) c.7814G>C (p.Arg2605Thr) c.6017G>C (p.Arg2006Thr) | |
| 6 | g.7585076G>T | CA362693835 | DSP | c.6485G>T (p.Arg2162Met) c.7814G>T (p.Arg2605Met) c.6017G>T (p.Arg2006Met) | |
| 6 | g.7585077G>A | CA448716595 | DSP | c.6486G>A (p.Arg2162=) c.7815G>A (p.Arg2605=) c.6018G>A (p.Arg2006=) | |
| 6 | g.7585077G>C | CA362693836 | DSP | c.6486G>C (p.Arg2162Ser) c.7815G>C (p.Arg2605Ser) c.6018G>C (p.Arg2006Ser) | |
| 6 | g.7585077G>T | CA362693837 | DSP | c.6486G>T (p.Arg2162Ser) c.7815G>T (p.Arg2605Ser) c.6018G>T (p.Arg2006Ser) | |
| 6 | g.7585078A>C | CA362693838 | DSP | c.6487A>C (p.Ser2163Arg) c.7816A>C (p.Ser2606Arg) c.6019A>C (p.Ser2007Arg) | |
| 6 | g.7585078A>G | CA362693840 | DSP | c.6487A>G (p.Ser2163Gly) c.7816A>G (p.Ser2606Gly) c.6019A>G (p.Ser2007Gly) | |
| 6 | g.7585078A>T | CA362693839 | DSP | c.6487A>T (p.Ser2163Cys) c.7816A>T (p.Ser2606Cys) c.6019A>T (p.Ser2007Cys) | gnomAD v4 |
| 6 | g.7585079G>A | CA007281 | DSP | c.6488G>A (p.Ser2163Asn) c.7817G>A (p.Ser2606Asn) c.6020G>A (p.Ser2007Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585079G>C | CA362693841 | DSP | c.6488G>C (p.Ser2163Thr) c.7817G>C (p.Ser2606Thr) c.6020G>C (p.Ser2007Thr) | |
| 6 | g.7585079G= | CA1608613179 | DSP | c.6488G= (p.Ser2163=) c.7817G= (p.Ser2606=) c.6020G= (p.Ser2007=) | |
| 6 | g.7585079G>T | CA362693842 | DSP | c.6488G>T (p.Ser2163Ile) c.7817G>T (p.Ser2606Ile) c.6020G>T (p.Ser2007Ile) | |
| 6 | g.7585080C>A | CA362693843 | DSP | c.6489C>A (p.Ser2163Arg) c.7818C>A (p.Ser2606Arg) c.6021C>A (p.Ser2007Arg) | |
| 6 | g.7585080C>G | CA362693844 | DSP | c.6489C>G (p.Ser2163Arg) c.7818C>G (p.Ser2606Arg) c.6021C>G (p.Ser2007Arg) | gnomAD v4 |
| 6 | g.7585080C>T | CA448716597 | DSP | c.6489C>T (p.Ser2163=) c.7818C>T (p.Ser2606=) c.6021C>T (p.Ser2007=) | |
| 6 | g.7585081A= | CA1608613194 | DSP | c.6490A= (p.Ser2164=) c.7819A= (p.Ser2607=) c.6022A= (p.Ser2008=) | |
| 6 | g.7585081A>C | CA362693845 | DSP | c.6490A>C (p.Ser2164Arg) c.7819A>C (p.Ser2607Arg) c.6022A>C (p.Ser2008Arg) | |
| 6 | g.7585081A>G | CA362693846 | DSP | c.6490A>G (p.Ser2164Gly) c.7819A>G (p.Ser2607Gly) c.6022A>G (p.Ser2008Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585081A>T | CA362693847 | DSP | c.6490A>T (p.Ser2164Cys) c.7819A>T (p.Ser2607Cys) c.6022A>T (p.Ser2008Cys) | dbSNP gnomAD v2 |
| 6 | g.7585082del | CA2499218566 | DSP | c.6491del (p.Ser2164ThrfsTer?) c.7820del (p.Ser2607ThrfsTer?) c.6023del (p.Ser2008ThrfsTer?) | ClinVar dbSNP |
| 6 | g.7585082G>A | CA362693848 | DSP | c.6491G>A (p.Ser2164Asn) c.7820G>A (p.Ser2607Asn) c.6023G>A (p.Ser2008Asn) | |
| 6 | g.7585082G>C | CA362693849 | DSP | c.6491G>C (p.Ser2164Thr) c.7820G>C (p.Ser2607Thr) c.6023G>C (p.Ser2008Thr) | |
| 6 | g.7585082G>T | CA362693850 | DSP | c.6491G>T (p.Ser2164Ile) c.7820G>T (p.Ser2607Ile) c.6023G>T (p.Ser2008Ile) | ClinVar gnomAD v4 |
| 6 | g.7585083C>A | CA362693851 | DSP | c.6492C>A (p.Ser2164Arg) c.7821C>A (p.Ser2607Arg) c.6024C>A (p.Ser2008Arg) | |
| 6 | g.7585083C>G | CA362693852 | DSP | c.6492C>G (p.Ser2164Arg) c.7821C>G (p.Ser2607Arg) c.6024C>G (p.Ser2008Arg) | gnomAD v4 |
| 6 | g.7585083C>T | CA448716609 | DSP | c.6492C>T (p.Ser2164=) c.7821C>T (p.Ser2607=) c.6024C>T (p.Ser2008=) | |
| 6 | g.7585084T>A | CA362693853 | DSP | c.6493T>A (p.Ser2165Thr) c.7822T>A (p.Ser2608Thr) c.6025T>A (p.Ser2009Thr) | |
| 6 | g.7585084T>C | CA362693854 | DSP | c.6493T>C (p.Ser2165Pro) c.7822T>C (p.Ser2608Pro) c.6025T>C (p.Ser2009Pro) | |
| 6 | g.7585084T>G | CA362693855 | DSP | c.6493T>G (p.Ser2165Ala) c.7822T>G (p.Ser2608Ala) c.6025T>G (p.Ser2009Ala) | |
| 6 | g.7585085C>A | CA050912 | DSP | c.6494C>A (p.Ser2165Tyr) c.7823C>A (p.Ser2608Tyr) c.6026C>A (p.Ser2009Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585085C= | CA1608613197 | DSP | c.6494C= (p.Ser2165=) c.7823C= (p.Ser2608=) c.6026C= (p.Ser2009=) | |
| 6 | g.7585085C>G | CA362693856 | DSP | c.6494C>G (p.Ser2165Cys) c.7823C>G (p.Ser2608Cys) c.6026C>G (p.Ser2009Cys) | dbSNP gnomAD v4 |
| 6 | g.7585085C>T | CA362693857 | DSP | c.6494C>T (p.Ser2165Phe) c.7823C>T (p.Ser2608Phe) c.6026C>T (p.Ser2009Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585086T>A | CA448716611 | DSP | c.6495T>A (p.Ser2165=) c.7824T>A (p.Ser2608=) c.6027T>A (p.Ser2009=) | |
| 6 | g.7585086T>C | CA448716615 | DSP | c.6495T>C (p.Ser2165=) c.7824T>C (p.Ser2608=) c.6027T>C (p.Ser2009=) | COSMIC |
| 6 | g.7585086T>G | CA448716613 | DSP | c.6495T>G (p.Ser2165=) c.7824T>G (p.Ser2608=) c.6027T>G (p.Ser2009=) | |
| 6 | g.7585087T>A | CA362693860 | DSP | c.6496T>A (p.Phe2166Ile) c.7825T>A (p.Phe2609Ile) c.6028T>A (p.Phe2010Ile) | |
| 6 | g.7585087T>C | CA362693858 | DSP | c.6496T>C (p.Phe2166Leu) c.7825T>C (p.Phe2609Leu) c.6028T>C (p.Phe2010Leu) | |
| 6 | g.7585087T>G | CA362693859 | DSP | c.6496T>G (p.Phe2166Val) c.7825T>G (p.Phe2609Val) c.6028T>G (p.Phe2010Val) | |
| 6 | g.7585088T>A | CA362693861 | DSP | c.6497T>A (p.Phe2166Tyr) c.7826T>A (p.Phe2609Tyr) c.6029T>A (p.Phe2010Tyr) | |
| 6 | g.7585088T>C | CA007289 | DSP | c.6497T>C (p.Phe2166Ser) c.7826T>C (p.Phe2609Ser) c.6029T>C (p.Phe2010Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585088T>G | CA362693862 | DSP | c.6497T>G (p.Phe2166Cys) c.7826T>G (p.Phe2609Cys) c.6029T>G (p.Phe2010Cys) | |
| 6 | g.7585088T= | CA1608613204 | DSP | c.6497T= (p.Phe2166=) c.7826T= (p.Phe2609=) c.6029T= (p.Phe2010=) | |
| 6 | g.7585089T>A | CA362693863 | DSP | c.6498T>A (p.Phe2166Leu) c.7827T>A (p.Phe2609Leu) c.6030T>A (p.Phe2010Leu) | dbSNP |
| 6 | g.7585089T>C | CA448716618 | DSP | c.6498T>C (p.Phe2166=) c.7827T>C (p.Phe2609=) c.6030T>C (p.Phe2010=) | |
| 6 | g.7585089T>G | CA362693864 | DSP | c.6498T>G (p.Phe2166Leu) c.7827T>G (p.Phe2609Leu) c.6030T>G (p.Phe2010Leu) | |
| 6 | g.7585089T= | CA1608613207 | DSP | c.6498T= (p.Phe2166=) c.7827T= (p.Phe2609=) c.6030T= (p.Phe2010=) | |
| 6 | g.7585090T>A | CA362693865 | DSP | c.6499T>A (p.Ser2167Thr) c.7828T>A (p.Ser2610Thr) c.6031T>A (p.Ser2011Thr) | |
| 6 | g.7585090T>C | CA362693867 | DSP | c.6499T>C (p.Ser2167Pro) c.7828T>C (p.Ser2610Pro) c.6031T>C (p.Ser2011Pro) | gnomAD v4 |
| 6 | g.7585090T>G | CA362693866 | DSP | c.6499T>G (p.Ser2167Ala) c.7828T>G (p.Ser2610Ala) c.6031T>G (p.Ser2011Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585090T= | CA1608613215 | DSP | c.6499T= (p.Ser2167=) c.7828T= (p.Ser2610=) c.6031T= (p.Ser2011=) | |
| 6 | g.7585091C>A | CA362693868 | DSP | c.6500C>A (p.Ser2167Ter) c.7829C>A (p.Ser2610Ter) c.6032C>A (p.Ser2011Ter) | |
| 6 | g.7585091C= | CA1608613219 | DSP | c.6500C= (p.Ser2167=) c.7829C= (p.Ser2610=) c.6032C= (p.Ser2011=) | |
| 6 | g.7585091C>G | CA362693869 | DSP | c.6500C>G (p.Ser2167Ter) c.7829C>G (p.Ser2610Ter) c.6032C>G (p.Ser2011Ter) | ClinVar dbSNP |
| 6 | g.7585091C>T | CA362693870 | DSP | c.6500C>T (p.Ser2167Leu) c.7829C>T (p.Ser2610Leu) c.6032C>T (p.Ser2011Leu) | dbSNP |
| 6 | g.7585092A>C | CA448716625 | DSP | c.6501A>C (p.Ser2167=) c.7830A>C (p.Ser2610=) c.6033A>C (p.Ser2011=) | |
| 6 | g.7585092A>G | CA448716626 | DSP | c.6501A>G (p.Ser2167=) c.7830A>G (p.Ser2610=) c.6033A>G (p.Ser2011=) | gnomAD v4 |
| 6 | g.7585092A>T | CA448716627 | DSP | c.6501A>T (p.Ser2167=) c.7830A>T (p.Ser2610=) c.6033A>T (p.Ser2011=) | |
| 6 | g.7585093G>A | CA362693871 | DSP | c.6502G>A (p.Asp2168Asn) c.7831G>A (p.Asp2611Asn) c.6034G>A (p.Asp2012Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585093G>C | CA362693872 | DSP | c.6502G>C (p.Asp2168His) c.7831G>C (p.Asp2611His) c.6034G>C (p.Asp2012His) | |
| 6 | g.7585093G= | CA1608613225 | DSP | c.6502G= (p.Asp2168=) c.7831G= (p.Asp2611=) c.6034G= (p.Asp2012=) | |
| 6 | g.7585093G>T | CA362693873 | DSP | c.6502G>T (p.Asp2168Tyr) c.7831G>T (p.Asp2611Tyr) c.6034G>T (p.Asp2012Tyr) | ClinVar |
| 6 | g.7585095_7585103del | CA2573052741 | DSP | c.6504_6512del (p.Asp2168_Leu2170del) c.7833_7841del (p.Asp2611_Leu2613del) c.6036_6044del (p.Asp2012_Leu2014del) | ClinVar dbSNP |
| 6 | g.7585094A>C | CA362693874 | DSP | c.6503A>C (p.Asp2168Ala) c.7832A>C (p.Asp2611Ala) c.6035A>C (p.Asp2012Ala) | |
| 6 | g.7585094A>G | CA362693875 | DSP | c.6503A>G (p.Asp2168Gly) c.7832A>G (p.Asp2611Gly) c.6035A>G (p.Asp2012Gly) | |
| 6 | g.7585094A>T | CA362693876 | DSP | c.6503A>T (p.Asp2168Val) c.7832A>T (p.Asp2611Val) c.6035A>T (p.Asp2012Val) | ClinVar gnomAD v4 |
| 6 | g.7585095C>A | CA362693877 | DSP | c.6504C>A (p.Asp2168Glu) c.7833C>A (p.Asp2611Glu) c.6036C>A (p.Asp2012Glu) | COSMIC |
| 6 | g.7585095C>G | CA362693878 | DSP | c.6504C>G (p.Asp2168Glu) c.7833C>G (p.Asp2611Glu) c.6036C>G (p.Asp2012Glu) | |
| 6 | g.7585095C>T | CA448716636 | DSP | c.6504C>T (p.Asp2168=) c.7833C>T (p.Asp2611=) c.6036C>T (p.Asp2012=) | |
| 6 | g.7585096A= | CA1608613235 | DSP | c.6505A= (p.Thr2169=) c.7834A= (p.Thr2612=) c.6037A= (p.Thr2013=) | |
| 6 | g.7585096A>C | CA362693879 | DSP | c.6505A>C (p.Thr2169Pro) c.7834A>C (p.Thr2612Pro) c.6037A>C (p.Thr2013Pro) | dbSNP |
| 6 | g.7585096A>G | CA362693881 | DSP | c.6505A>G (p.Thr2169Ala) c.7834A>G (p.Thr2612Ala) c.6037A>G (p.Thr2013Ala) | |
| 6 | g.7585096A>T | CA362693880 | DSP | c.6505A>T (p.Thr2169Ser) c.7834A>T (p.Thr2612Ser) c.6037A>T (p.Thr2013Ser) | |
| 6 | g.7585097C>A | CA362693882 | DSP | c.6506C>A (p.Thr2169Asn) c.7835C>A (p.Thr2612Asn) c.6038C>A (p.Thr2013Asn) | |
| 6 | g.7585097C>G | CA362693883 | DSP | c.6506C>G (p.Thr2169Ser) c.7835C>G (p.Thr2612Ser) c.6038C>G (p.Thr2013Ser) | |
| 6 | g.7585097C>T | CA362693884 | DSP | c.6506C>T (p.Thr2169Ile) c.7835C>T (p.Thr2612Ile) c.6038C>T (p.Thr2013Ile) | |
| 6 | g.7585098C>A | CA448716642 | DSP | c.6507C>A (p.Thr2169=) c.7836C>A (p.Thr2612=) c.6039C>A (p.Thr2013=) | |
| 6 | g.7585098C= | CA1608613243 | DSP | c.6507C= (p.Thr2169=) c.7836C= (p.Thr2612=) c.6039C= (p.Thr2013=) | |
| 6 | g.7585098C>G | CA050926 | DSP | c.6507C>G (p.Thr2169=) c.7836C>G (p.Thr2612=) c.6039C>G (p.Thr2013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585098C>T | CA448716643 | DSP | c.6507C>T (p.Thr2169=) c.7836C>T (p.Thr2612=) c.6039C>T (p.Thr2013=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585099C>A | CA362693885 | DSP | c.6508C>A (p.Leu2170Met) c.7837C>A (p.Leu2613Met) c.6040C>A (p.Leu2014Met) | |
| 6 | g.7585099C= | CA1608613250 | DSP | c.6508C= (p.Leu2170=) c.7837C= (p.Leu2613=) c.6040C= (p.Leu2014=) | |
| 6 | g.7585099C>G | CA362693886 | DSP | c.6508C>G (p.Leu2170Val) c.7837C>G (p.Leu2613Val) c.6040C>G (p.Leu2014Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585099C>T | CA448716648 | DSP | c.6508C>T (p.Leu2170=) c.7837C>T (p.Leu2613=) c.6040C>T (p.Leu2014=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585100T>A | CA362693887 | DSP | c.6509T>A (p.Leu2170Gln) c.7838T>A (p.Leu2613Gln) c.6041T>A (p.Leu2014Gln) | |
| 6 | g.7585100T>C | CA362693888 | DSP | c.6509T>C (p.Leu2170Pro) c.7838T>C (p.Leu2613Pro) c.6041T>C (p.Leu2014Pro) | ClinVar dbSNP |
| 6 | g.7585100T>G | CA362693889 | DSP | c.6509T>G (p.Leu2170Arg) c.7838T>G (p.Leu2613Arg) c.6041T>G (p.Leu2014Arg) | |
| 6 | g.7585100T= | CA1608613270 | DSP | c.6509T= (p.Leu2170=) c.7838T= (p.Leu2613=) c.6041T= (p.Leu2014=) | |
| 6 | g.7585101G>A | CA050929 | DSP | c.6510G>A (p.Leu2170=) c.7839G>A (p.Leu2613=) c.6042G>A (p.Leu2014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585101G>C | CA448716762 | DSP | c.6510G>C (p.Leu2170=) c.7839G>C (p.Leu2613=) c.6042G>C (p.Leu2014=) | |
| 6 | g.7585101G= | CA1608613276 | DSP | c.6510G= (p.Leu2170=) c.7839G= (p.Leu2613=) c.6042G= (p.Leu2014=) | |
| 6 | g.7585101G>T | CA448716764 | DSP | c.6510G>T (p.Leu2170=) c.7839G>T (p.Leu2613=) c.6042G>T (p.Leu2014=) | |
| 6 | g.7585102G>A | CA362693890 | DSP | c.6511G>A (p.Glu2171Lys) c.7840G>A (p.Glu2614Lys) c.6043G>A (p.Glu2015Lys) | COSMIC |
| 6 | g.7585102G>C | CA362693891 | DSP | c.6511G>C (p.Glu2171Gln) c.7840G>C (p.Glu2614Gln) c.6043G>C (p.Glu2015Gln) | |
| 6 | g.7585102G>T | CA362693892 | DSP | c.6511G>T (p.Glu2171Ter) c.7840G>T (p.Glu2614Ter) c.6043G>T (p.Glu2015Ter) | |
| 6 | g.7585103A>C | CA362693895 | DSP | c.6512A>C (p.Glu2171Ala) c.7841A>C (p.Glu2614Ala) c.6044A>C (p.Glu2015Ala) | |
| 6 | g.7585103A>G | CA362693894 | DSP | c.6512A>G (p.Glu2171Gly) c.7841A>G (p.Glu2614Gly) c.6044A>G (p.Glu2015Gly) | |
| 6 | g.7585103A>T | CA362693893 | DSP | c.6512A>T (p.Glu2171Val) c.7841A>T (p.Glu2614Val) c.6044A>T (p.Glu2015Val) | |
| 6 | g.7585104A>C | CA362693896 | DSP | c.6513A>C (p.Glu2171Asp) c.7842A>C (p.Glu2614Asp) c.6045A>C (p.Glu2015Asp) | |
| 6 | g.7585104A>G | CA448716772 | DSP | c.6513A>G (p.Glu2171=) c.7842A>G (p.Glu2614=) c.6045A>G (p.Glu2015=) | |
| 6 | g.7585104A>T | CA362693897 | DSP | c.6513A>T (p.Glu2171Asp) c.7842A>T (p.Glu2614Asp) c.6045A>T (p.Glu2015Asp) | |
| 6 | g.7585105G>A | CA362693898 | DSP | c.6514G>A (p.Glu2172Lys) c.7843G>A (p.Glu2615Lys) c.6046G>A (p.Glu2016Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585105G>C | CA362693899 | DSP | c.6514G>C (p.Glu2172Gln) c.7843G>C (p.Glu2615Gln) c.6046G>C (p.Glu2016Gln) | |
| 6 | g.7585105G= | CA1608613279 | DSP | c.6514G= (p.Glu2172=) c.7843G= (p.Glu2615=) c.6046G= (p.Glu2016=) | |
| 6 | g.7585105G>T | CA362693900 | DSP | c.6514G>T (p.Glu2172Ter) c.7843G>T (p.Glu2615Ter) c.6046G>T (p.Glu2016Ter) | |
| 6 | g.7585106A= | CA1608613286 | DSP | c.6515A= (p.Glu2172=) c.7844A= (p.Glu2615=) c.6047A= (p.Glu2016=) | |
| 6 | g.7585106A>C | CA362693901 | DSP | c.6515A>C (p.Glu2172Ala) c.7844A>C (p.Glu2615Ala) c.6047A>C (p.Glu2016Ala) | |
| 6 | g.7585106A>G | CA362693902 | DSP | c.6515A>G (p.Glu2172Gly) c.7844A>G (p.Glu2615Gly) c.6047A>G (p.Glu2016Gly) | |
| 6 | g.7585106A>T | CA362693903 | DSP | c.6515A>T (p.Glu2172Val) c.7844A>T (p.Glu2615Val) c.6047A>T (p.Glu2016Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585107A= | CA1608613288 | DSP | c.6516A= (p.Glu2172=) c.7845A= (p.Glu2615=) c.6048A= (p.Glu2016=) | |
| 6 | g.7585107A>C | CA362693904 | DSP | c.6516A>C (p.Glu2172Asp) c.7845A>C (p.Glu2615Asp) c.6048A>C (p.Glu2016Asp) | ClinVar dbSNP |
| 6 | g.7585107A>G | CA448716778 | DSP | c.6516A>G (p.Glu2172=) c.7845A>G (p.Glu2615=) c.6048A>G (p.Glu2016=) | gnomAD v4 |
| 6 | g.7585107A>T | CA362693905 | DSP | c.6516A>T (p.Glu2172Asp) c.7845A>T (p.Glu2615Asp) c.6048A>T (p.Glu2016Asp) | |
| 6 | g.7585108T>A | CA362693906 | DSP | c.6517T>A (p.Ser2173Thr) c.7846T>A (p.Ser2616Thr) c.6049T>A (p.Ser2017Thr) | |
| 6 | g.7585108T>C | CA362693907 | DSP | c.6517T>C (p.Ser2173Pro) c.7846T>C (p.Ser2616Pro) c.6049T>C (p.Ser2017Pro) | |
| 6 | g.7585108T>G | CA362693908 | DSP | c.6517T>G (p.Ser2173Ala) c.7846T>G (p.Ser2616Ala) c.6049T>G (p.Ser2017Ala) | |
| 6 | g.7585109C>A | CA362693909 | DSP | c.6518C>A (p.Ser2173Ter) c.7847C>A (p.Ser2616Ter) c.6050C>A (p.Ser2017Ter) | |
| 6 | g.7585109C= | CA1608613291 | DSP | c.6518C= (p.Ser2173=) c.7847C= (p.Ser2616=) c.6050C= (p.Ser2017=) | |
| 6 | g.7585109C>G | CA362693910 | DSP | c.6518C>G (p.Ser2173Trp) c.7847C>G (p.Ser2616Trp) c.6050C>G (p.Ser2017Trp) | |
| 6 | g.7585109C>T | CA050952 | DSP | c.6518C>T (p.Ser2173Leu) c.7847C>T (p.Ser2616Leu) c.6050C>T (p.Ser2017Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585110G>A | CA050967 | DSP | c.6519G>A (p.Ser2173=) c.7848G>A (p.Ser2616=) c.6051G>A (p.Ser2017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585110G>C | CA448716784 | DSP | c.6519G>C (p.Ser2173=) c.7848G>C (p.Ser2616=) c.6051G>C (p.Ser2017=) | gnomAD v4 |
| 6 | g.7585110G= | CA1608613297 | DSP | c.6519G= (p.Ser2173=) c.7848G= (p.Ser2616=) c.6051G= (p.Ser2017=) | |
| 6 | g.7585110G>T | CA448716783 | DSP | c.6519G>T (p.Ser2173=) c.7848G>T (p.Ser2616=) c.6051G>T (p.Ser2017=) | |
| 6 | g.7585111A>C | CA362693911 | DSP | c.6520A>C (p.Ser2174Arg) c.7849A>C (p.Ser2617Arg) c.6052A>C (p.Ser2018Arg) | |
| 6 | g.7585111A>G | CA362693912 | DSP | c.6520A>G (p.Ser2174Gly) c.7849A>G (p.Ser2617Gly) c.6052A>G (p.Ser2018Gly) | |
| 6 | g.7585111A>T | CA362693913 | DSP | c.6520A>T (p.Ser2174Cys) c.7849A>T (p.Ser2617Cys) c.6052A>T (p.Ser2018Cys) | |
| 6 | g.7585112G>A | CA050983 | DSP | c.6521G>A (p.Ser2174Asn) c.7850G>A (p.Ser2617Asn) c.6053G>A (p.Ser2018Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585112G>C | CA362693914 | DSP | c.6521G>C (p.Ser2174Thr) c.7850G>C (p.Ser2617Thr) c.6053G>C (p.Ser2018Thr) | |
| 6 | g.7585112G= | CA1608613308 | DSP | c.6521G= (p.Ser2174=) c.7850G= (p.Ser2617=) c.6053G= (p.Ser2018=) | |
| 6 | g.7585112G>T | CA362693915 | DSP | c.6521G>T (p.Ser2174Ile) c.7850G>T (p.Ser2617Ile) c.6053G>T (p.Ser2018Ile) | |
| 6 | g.7585113C>A | CA362693916 | DSP | c.6522C>A (p.Ser2174Arg) c.7851C>A (p.Ser2617Arg) c.6054C>A (p.Ser2018Arg) | |
| 6 | g.7585113C= | CA1608613318 | DSP | c.6522C= (p.Ser2174=) c.7851C= (p.Ser2617=) c.6054C= (p.Ser2018=) | |
| 6 | g.7585113C>G | CA362693917 | DSP | c.6522C>G (p.Ser2174Arg) c.7851C>G (p.Ser2617Arg) c.6054C>G (p.Ser2018Arg) | |
| 6 | g.7585113C>T | CA448716788 | DSP | c.6522C>T (p.Ser2174=) c.7851C>T (p.Ser2617=) c.6054C>T (p.Ser2018=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585114C>A | CA362693918 | DSP | c.6523C>A (p.Pro2175Thr) c.7852C>A (p.Pro2618Thr) c.6055C>A (p.Pro2019Thr) | |
| 6 | g.7585114C= | CA1608613322 | DSP | c.6523C= (p.Pro2175=) c.7852C= (p.Pro2618=) c.6055C= (p.Pro2019=) | |
| 6 | g.7585114C>G | CA362693919 | DSP | c.6523C>G (p.Pro2175Ala) c.7852C>G (p.Pro2618Ala) c.6055C>G (p.Pro2019Ala) | |
| 6 | g.7585114C>T | CA050995 | DSP | c.6523C>T (p.Pro2175Ser) c.7852C>T (p.Pro2618Ser) c.6055C>T (p.Pro2019Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585115C>A | CA362693922 | DSP | c.6524C>A (p.Pro2175His) c.7853C>A (p.Pro2618His) c.6056C>A (p.Pro2019His) | |
| 6 | g.7585115C>G | CA362693920 | DSP | c.6524C>G (p.Pro2175Arg) c.7853C>G (p.Pro2618Arg) c.6056C>G (p.Pro2019Arg) | |
| 6 | g.7585115C>T | CA362693921 | DSP | c.6524C>T (p.Pro2175Leu) c.7853C>T (p.Pro2618Leu) c.6056C>T (p.Pro2019Leu) | |
| 6 | g.7585116C>A | CA448716794 | DSP | c.6525C>A (p.Pro2175=) c.7854C>A (p.Pro2618=) c.6057C>A (p.Pro2019=) | |
| 6 | g.7585116C= | CA1608613328 | DSP | c.6525C= (p.Pro2175=) c.7854C= (p.Pro2618=) c.6057C= (p.Pro2019=) | |
| 6 | g.7585116C>G | CA051011 | DSP | c.6525C>G (p.Pro2175=) c.7854C>G (p.Pro2618=) c.6057C>G (p.Pro2019=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585116C>T | CA448716795 | DSP | c.6525C>T (p.Pro2175=) c.7854C>T (p.Pro2618=) c.6057C>T (p.Pro2019=) | gnomAD v4 |
| 6 | g.7585117A= | CA1608613335 | DSP | c.6526A= (p.Ile2176=) c.7855A= (p.Ile2619=) c.6058A= (p.Ile2020=) | |
| 6 | g.7585117A>C | CA362693923 | DSP | c.6526A>C (p.Ile2176Leu) c.7855A>C (p.Ile2619Leu) c.6058A>C (p.Ile2020Leu) | |
| 6 | g.7585117A>G | CA051024 | DSP | c.6526A>G (p.Ile2176Val) c.7855A>G (p.Ile2619Val) c.6058A>G (p.Ile2020Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585117A>T | CA362693924 | DSP | c.6526A>T (p.Ile2176Phe) c.7855A>T (p.Ile2619Phe) c.6058A>T (p.Ile2020Phe) | |
| 6 | g.7585118T>A | CA362693925 | DSP | c.6527T>A (p.Ile2176Asn) c.7856T>A (p.Ile2619Asn) c.6059T>A (p.Ile2020Asn) | |
| 6 | g.7585118T>C | CA362693926 | DSP | c.6527T>C (p.Ile2176Thr) c.7856T>C (p.Ile2619Thr) c.6059T>C (p.Ile2020Thr) | gnomAD v4 COSMIC |
| 6 | g.7585118T>G | CA362693927 | DSP | c.6527T>G (p.Ile2176Ser) c.7856T>G (p.Ile2619Ser) c.6059T>G (p.Ile2020Ser) | |
| 6 | g.7585119T>A | CA448716800 | DSP | c.6528T>A (p.Ile2176=) c.7857T>A (p.Ile2619=) c.6060T>A (p.Ile2020=) | |
| 6 | g.7585119T>C | CA448716802 | DSP | c.6528T>C (p.Ile2176=) c.7857T>C (p.Ile2619=) c.6060T>C (p.Ile2020=) | ClinVar gnomAD v4 |
| 6 | g.7585119T>G | CA362693928 | DSP | c.6528T>G (p.Ile2176Met) c.7857T>G (p.Ile2619Met) c.6060T>G (p.Ile2020Met) | |
| 6 | g.7585120G>A | CA362693929 | DSP | c.6529G>A (p.Ala2177Thr) c.7858G>A (p.Ala2620Thr) c.6061G>A (p.Ala2021Thr) | |
| 6 | g.7585120G>C | CA362693930 | DSP | c.6529G>C (p.Ala2177Pro) c.7858G>C (p.Ala2620Pro) c.6061G>C (p.Ala2021Pro) | |
| 6 | g.7585120G= | CA1608613342 | DSP | c.6529G= (p.Ala2177=) c.7858G= (p.Ala2620=) c.6061G= (p.Ala2021=) | |
| 6 | g.7585120G>T | CA362693931 | DSP | c.6529G>T (p.Ala2177Ser) c.7858G>T (p.Ala2620Ser) c.6061G>T (p.Ala2021Ser) | dbSNP gnomAD v2 |
| 6 | g.7585121C>A | CA362693934 | DSP | c.6530C>A (p.Ala2177Glu) c.7859C>A (p.Ala2620Glu) c.6062C>A (p.Ala2021Glu) | |
| 6 | g.7585121C>G | CA362693933 | DSP | c.6530C>G (p.Ala2177Gly) c.7859C>G (p.Ala2620Gly) c.6062C>G (p.Ala2021Gly) | |
| 6 | g.7585121C>T | CA362693932 | DSP | c.6530C>T (p.Ala2177Val) c.7859C>T (p.Ala2620Val) c.6062C>T (p.Ala2021Val) | gnomAD v4 |
| 6 | g.7585122A>C | CA448716810 | DSP | c.6531A>C (p.Ala2177=) c.7860A>C (p.Ala2620=) c.6063A>C (p.Ala2021=) | |
| 6 | g.7585122A>G | CA448716813 | DSP | c.6531A>G (p.Ala2177=) c.7860A>G (p.Ala2620=) c.6063A>G (p.Ala2021=) | |
| 6 | g.7585122A>T | CA448716814 | DSP | c.6531A>T (p.Ala2177=) c.7860A>T (p.Ala2620=) c.6063A>T (p.Ala2021=) | |
| 6 | g.7585123G>A | CA362693936 | DSP | c.6532G>A (p.Ala2178Thr) c.7861G>A (p.Ala2621Thr) c.6064G>A (p.Ala2022Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585123G>C | CA362693935 | DSP | c.6532G>C (p.Ala2178Pro) c.7861G>C (p.Ala2621Pro) c.6064G>C (p.Ala2022Pro) | |
| 6 | g.7585123G= | CA1608613348 | DSP | c.6532G= (p.Ala2178=) c.7861G= (p.Ala2621=) c.6064G= (p.Ala2022=) | |
| 6 | g.7585123G>T | CA362693937 | DSP | c.6532G>T (p.Ala2178Ser) c.7861G>T (p.Ala2621Ser) c.6064G>T (p.Ala2022Ser) | |
| 6 | g.7585124C>A | CA362693938 | DSP | c.6533C>A (p.Ala2178Asp) c.7862C>A (p.Ala2621Asp) c.6065C>A (p.Ala2022Asp) | |
| 6 | g.7585124C>G | CA362693940 | DSP | c.6533C>G (p.Ala2178Gly) c.7862C>G (p.Ala2621Gly) c.6065C>G (p.Ala2022Gly) | |
| 6 | g.7585124C>T | CA362693939 | DSP | c.6533C>T (p.Ala2178Val) c.7862C>T (p.Ala2621Val) c.6065C>T (p.Ala2022Val) | gnomAD v4 |
| 6 | g.7585125del | CA913188243 | DSP | c.6534del (p.Ile2179SerfsTer16) c.7863del (p.Ile2622SerfsTer16) c.6066del (p.Ile2023SerfsTer16) | |
| 6 | g.7585125C>A | CA448716822 | DSP | c.6534C>A (p.Ala2178=) c.7863C>A (p.Ala2621=) c.6066C>A (p.Ala2022=) | |
| 6 | g.7585125C>G | CA448716823 | DSP | c.6534C>G (p.Ala2178=) c.7863C>G (p.Ala2621=) c.6066C>G (p.Ala2022=) | |
| 6 | g.7585125C>T | CA448716824 | DSP | c.6534C>T (p.Ala2178=) c.7863C>T (p.Ala2621=) c.6066C>T (p.Ala2022=) | |
| 6 | g.7585126A= | CA1608613358 | DSP | c.6535A= (p.Ile2179=) c.7864A= (p.Ile2622=) c.6067A= (p.Ile2023=) | |
| 6 | g.7585126A>C | CA362693941 | DSP | c.6535A>C (p.Ile2179Leu) c.7864A>C (p.Ile2622Leu) c.6067A>C (p.Ile2023Leu) | |
| 6 | g.7585126A>G | CA007306 | DSP | c.6535A>G (p.Ile2179Val) c.7864A>G (p.Ile2622Val) c.6067A>G (p.Ile2023Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585126A>T | CA362693942 | DSP | c.6535A>T (p.Ile2179Phe) c.7864A>T (p.Ile2622Phe) c.6067A>T (p.Ile2023Phe) | |
| 6 | g.7585127T>A | CA362693943 | DSP | c.6536T>A (p.Ile2179Asn) c.7865T>A (p.Ile2622Asn) c.6068T>A (p.Ile2023Asn) | |
| 6 | g.7585127T>C | CA362693944 | DSP | c.6536T>C (p.Ile2179Thr) c.7865T>C (p.Ile2622Thr) c.6068T>C (p.Ile2023Thr) | |
| 6 | g.7585127T>G | CA362693945 | DSP | c.6536T>G (p.Ile2179Ser) c.7865T>G (p.Ile2622Ser) c.6068T>G (p.Ile2023Ser) |