| 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.7585581_7585603del | CA2573140824 | DSP | c.6990_7012del (p.Leu2331LysfsTer5) c.8319_8341del (p.Leu2774LysfsTer5) c.6522_6544del (p.Leu2175LysfsTer5) | ClinVar dbSNP |
| 6 | g.7585601A>C | CA362694948 | DSP | c.7010A>C (p.Lys2337Thr) c.8339A>C (p.Lys2780Thr) c.6542A>C (p.Lys2181Thr) | |
| 6 | g.7585601A>G | CA362694949 | DSP | c.7010A>G (p.Lys2337Arg) c.8339A>G (p.Lys2780Arg) c.6542A>G (p.Lys2181Arg) | |
| 6 | g.7585601A>T | CA362694950 | DSP | c.7010A>T (p.Lys2337Ile) c.8339A>T (p.Lys2780Ile) c.6542A>T (p.Lys2181Ile) | |
| 6 | g.7585602A>C | CA362694951 | DSP | c.7011A>C (p.Lys2337Asn) c.8340A>C (p.Lys2780Asn) c.6543A>C (p.Lys2181Asn) | |
| 6 | g.7585602A>G | CA448716956 | DSP | c.7011A>G (p.Lys2337=) c.8340A>G (p.Lys2780=) c.6543A>G (p.Lys2181=) | |
| 6 | g.7585602A>T | CA362694952 | DSP | c.7011A>T (p.Lys2337Asn) c.8340A>T (p.Lys2780Asn) c.6543A>T (p.Lys2181Asn) | |
| 6 | g.7585603T>A | CA362694953 | DSP | c.7012T>A (p.Leu2338Ile) c.8341T>A (p.Leu2781Ile) c.6544T>A (p.Leu2182Ile) | |
| 6 | g.7585603T>C | CA448716958 | DSP | c.7012T>C (p.Leu2338=) c.8341T>C (p.Leu2781=) c.6544T>C (p.Leu2182=) | |
| 6 | g.7585603T>G | CA362694954 | DSP | c.7012T>G (p.Leu2338Val) c.8341T>G (p.Leu2781Val) c.6544T>G (p.Leu2182Val) | |
| 6 | g.7585604del | CA645552063 | DSP | c.7013del (p.Leu2338Ter) c.8342del (p.Leu2781Ter) c.6545del (p.Leu2182Ter) | COSMIC |
| 6 | g.7585604T>A | CA133977785 | DSP | c.7013T>A (p.Leu2338Ter) c.8342T>A (p.Leu2781Ter) c.6545T>A (p.Leu2182Ter) | dbSNP |
| 6 | g.7585604T>C | CA362694955 | DSP | c.7013T>C (p.Leu2338Ser) c.8342T>C (p.Leu2781Ser) c.6545T>C (p.Leu2182Ser) | ClinVar gnomAD v4 |
| 6 | g.7585604T>G | CA362694956 | DSP | c.7013T>G (p.Leu2338Ter) c.8342T>G (p.Leu2781Ter) c.6545T>G (p.Leu2182Ter) | |
| 6 | g.7585604T= | CA1608615041 | DSP | c.7013T= (p.Leu2338=) c.8342T= (p.Leu2781=) c.6545T= (p.Leu2182=) | |
| 6 | g.7585605A= | CA1608615045 | DSP | c.7014A= (p.Leu2338=) c.8343A= (p.Leu2781=) c.6546A= (p.Leu2182=) | |
| 6 | g.7585605A>C | CA362694957 | DSP | c.7014A>C (p.Leu2338Phe) c.8343A>C (p.Leu2781Phe) c.6546A>C (p.Leu2182Phe) | |
| 6 | g.7585605A>G | CA448716960 | DSP | c.7014A>G (p.Leu2338=) c.8343A>G (p.Leu2781=) c.6546A>G (p.Leu2182=) | gnomAD v4 |
| 6 | g.7585605A>T | CA052088 | DSP | c.7014A>T (p.Leu2338Phe) c.8343A>T (p.Leu2781Phe) c.6546A>T (p.Leu2182Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585606A>C | CA362694959 | DSP | c.7015A>C (p.Lys2339Gln) c.8344A>C (p.Lys2782Gln) c.6547A>C (p.Lys2183Gln) | gnomAD v4 |
| 6 | g.7585606A>G | CA362694960 | DSP | c.7015A>G (p.Lys2339Glu) c.8344A>G (p.Lys2782Glu) c.6547A>G (p.Lys2183Glu) | |
| 6 | g.7585606A>T | CA362694958 | DSP | c.7015A>T (p.Lys2339Ter) c.8344A>T (p.Lys2782Ter) c.6547A>T (p.Lys2183Ter) | |
| 6 | g.7585607A>C | CA362694961 | DSP | c.7016A>C (p.Lys2339Thr) c.8345A>C (p.Lys2782Thr) c.6548A>C (p.Lys2183Thr) | |
| 6 | g.7585607A>G | CA362694963 | DSP | c.7016A>G (p.Lys2339Arg) c.8345A>G (p.Lys2782Arg) c.6548A>G (p.Lys2183Arg) | |
| 6 | g.7585607A>T | CA362694962 | DSP | c.7016A>T (p.Lys2339Ile) c.8345A>T (p.Lys2782Ile) c.6548A>T (p.Lys2183Ile) | |
| 6 | g.7585607_7585608insCACACCCAACAC | CA2769904120 | DSP | c.7016_7017insCACACCCAACAC (p.Lys2339delinsAsnThrProAsnThr) c.8345_8346insCACACCCAACAC (p.Lys2782delinsAsnThrProAsnThr) c.6548_6549insCACACCCAACAC (p.Lys2183delinsAsnThrProAsnThr) | |
| 6 | g.7585608A>C | CA362694964 | DSP | c.7017A>C (p.Lys2339Asn) c.8346A>C (p.Lys2782Asn) c.6549A>C (p.Lys2183Asn) | |
| 6 | g.7585608A>G | CA448716962 | DSP | c.7017A>G (p.Lys2339=) c.8346A>G (p.Lys2782=) c.6549A>G (p.Lys2183=) | |
| 6 | g.7585608A>T | CA362694965 | DSP | c.7017A>T (p.Lys2339Asn) c.8346A>T (p.Lys2782Asn) c.6549A>T (p.Lys2183Asn) | ClinVar |
| 6 | g.7585609A= | CA1608615049 | DSP | c.7018A= (p.Ile2340=) c.8347A= (p.Ile2783=) c.6550A= (p.Ile2184=) | |
| 6 | g.7585609A>C | CA362694966 | DSP | c.7018A>C (p.Ile2340Leu) c.8347A>C (p.Ile2783Leu) c.6550A>C (p.Ile2184Leu) | |
| 6 | g.7585609A>G | CA007483 | DSP | c.7018A>G (p.Ile2340Val) c.8347A>G (p.Ile2783Val) c.6550A>G (p.Ile2184Val) | ClinVar dbSNP |
| 6 | g.7585609A>T | CA362694967 | DSP | c.7018A>T (p.Ile2340Leu) c.8347A>T (p.Ile2783Leu) c.6550A>T (p.Ile2184Leu) | |
| 6 | g.7585610T>A | CA362694968 | DSP | c.7019T>A (p.Ile2340Lys) c.8348T>A (p.Ile2783Lys) c.6551T>A (p.Ile2184Lys) | |
| 6 | g.7585610T>C | CA362694969 | DSP | c.7019T>C (p.Ile2340Thr) c.8348T>C (p.Ile2783Thr) c.6551T>C (p.Ile2184Thr) | dbSNP |
| 6 | g.7585610T>G | CA362694970 | DSP | c.7019T>G (p.Ile2340Arg) c.8348T>G (p.Ile2783Arg) c.6551T>G (p.Ile2184Arg) | |
| 6 | g.7585611A>C | CA448716970 | DSP | c.7020A>C (p.Ile2340=) c.8349A>C (p.Ile2783=) c.6552A>C (p.Ile2184=) | |
| 6 | g.7585611A>G | CA362694971 | DSP | c.7020A>G (p.Ile2340Met) c.8349A>G (p.Ile2783Met) c.6552A>G (p.Ile2184Met) | |
| 6 | g.7585611A>T | CA448716973 | DSP | c.7020A>T (p.Ile2340=) c.8349A>T (p.Ile2783=) c.6552A>T (p.Ile2184=) | |
| 6 | g.7585612T>A | CA362694972 | DSP | c.7021T>A (p.Ser2341Thr) c.8350T>A (p.Ser2784Thr) c.6553T>A (p.Ser2185Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585612T>C | CA362694973 | DSP | c.7021T>C (p.Ser2341Pro) c.8350T>C (p.Ser2784Pro) c.6553T>C (p.Ser2185Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585612T>G | CA362694974 | DSP | c.7021T>G (p.Ser2341Ala) c.8350T>G (p.Ser2784Ala) c.6553T>G (p.Ser2185Ala) | |
| 6 | g.7585612T= | CA1608615054 | DSP | c.7021T= (p.Ser2341=) c.8350T= (p.Ser2784=) c.6553T= (p.Ser2185=) | |
| 6 | g.7585613C>A | CA362694975 | DSP | c.7022C>A (p.Ser2341Tyr) c.8351C>A (p.Ser2784Tyr) c.6554C>A (p.Ser2185Tyr) | |
| 6 | g.7585613C= | CA1608615058 | DSP | c.7022C= (p.Ser2341=) c.8351C= (p.Ser2784=) c.6554C= (p.Ser2185=) | |
| 6 | g.7585613C>G | CA362694976 | DSP | c.7022C>G (p.Ser2341Cys) c.8351C>G (p.Ser2784Cys) c.6554C>G (p.Ser2185Cys) | |
| 6 | g.7585613C>T | CA362694977 | DSP | c.7022C>T (p.Ser2341Phe) c.8351C>T (p.Ser2784Phe) c.6554C>T (p.Ser2185Phe) | dbSNP gnomAD v4 |
| 6 | g.7585614C>A | CA448717096 | DSP | c.7023C>A (p.Ser2341=) c.8352C>A (p.Ser2784=) c.6555C>A (p.Ser2185=) | |
| 6 | g.7585614C>G | CA448717097 | DSP | c.7023C>G (p.Ser2341=) c.8352C>G (p.Ser2784=) c.6555C>G (p.Ser2185=) | ClinVar |
| 6 | g.7585614C>T | CA448717098 | DSP | c.7023C>T (p.Ser2341=) c.8352C>T (p.Ser2784=) c.6555C>T (p.Ser2185=) | |
| 6 | g.7585615T>A | CA362694978 | DSP | c.7024T>A (p.Tyr2342Asn) c.8353T>A (p.Tyr2785Asn) c.6556T>A (p.Tyr2186Asn) | |
| 6 | g.7585615T>C | CA362694980 | DSP | c.7024T>C (p.Tyr2342His) c.8353T>C (p.Tyr2785His) c.6556T>C (p.Tyr2186His) | |
| 6 | g.7585615T>G | CA362694979 | DSP | c.7024T>G (p.Tyr2342Asp) c.8353T>G (p.Tyr2785Asp) c.6556T>G (p.Tyr2186Asp) | |
| 6 | g.7585616A= | CA1608615064 | DSP | c.7025A= (p.Tyr2342=) c.8354A= (p.Tyr2785=) c.6557A= (p.Tyr2186=) | |
| 6 | g.7585616A>C | CA362694981 | DSP | c.7025A>C (p.Tyr2342Ser) c.8354A>C (p.Tyr2785Ser) c.6557A>C (p.Tyr2186Ser) | |
| 6 | g.7585616A>G | CA052095 | DSP | c.7025A>G (p.Tyr2342Cys) c.8354A>G (p.Tyr2785Cys) c.6557A>G (p.Tyr2186Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585616A>T | CA362694982 | DSP | c.7025A>T (p.Tyr2342Phe) c.8354A>T (p.Tyr2785Phe) c.6557A>T (p.Tyr2186Phe) | |
| 6 | g.7585617T>A | CA362694983 | DSP | c.7026T>A (p.Tyr2342Ter) c.8355T>A (p.Tyr2785Ter) c.6558T>A (p.Tyr2186Ter) | |
| 6 | g.7585617T>C | CA448717105 | DSP | c.7026T>C (p.Tyr2342=) c.8355T>C (p.Tyr2785=) c.6558T>C (p.Tyr2186=) | |
| 6 | g.7585617T>G | CA362694984 | DSP | c.7026T>G (p.Tyr2342Ter) c.8355T>G (p.Tyr2785Ter) c.6558T>G (p.Tyr2186Ter) | |
| 6 | g.7585618A= | CA1608615070 | DSP | c.7027A= (p.Lys2343=) c.8356A= (p.Lys2786=) c.6559A= (p.Lys2187=) | |
| 6 | g.7585618A>C | CA362694985 | DSP | c.7027A>C (p.Lys2343Gln) c.8356A>C (p.Lys2786Gln) c.6559A>C (p.Lys2187Gln) | |
| 6 | g.7585618A>G | CA362694986 | DSP | c.7027A>G (p.Lys2343Glu) c.8356A>G (p.Lys2786Glu) c.6559A>G (p.Lys2187Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585618A>T | CA362694987 | DSP | c.7027A>T (p.Lys2343Ter) c.8356A>T (p.Lys2786Ter) c.6559A>T (p.Lys2187Ter) | |
| 6 | g.7585619A= | CA1608615073 | DSP | c.7028A= (p.Lys2343=) c.8357A= (p.Lys2786=) c.6560A= (p.Lys2187=) | |
| 6 | g.7585619A>C | CA362694988 | DSP | c.7028A>C (p.Lys2343Thr) c.8357A>C (p.Lys2786Thr) c.6560A>C (p.Lys2187Thr) | |
| 6 | g.7585619A>G | CA362694989 | DSP | c.7028A>G (p.Lys2343Arg) c.8357A>G (p.Lys2786Arg) c.6560A>G (p.Lys2187Arg) | |
| 6 | g.7585619A>T | CA007494 | DSP | c.7028A>T (p.Lys2343Met) c.8357A>T (p.Lys2786Met) c.6560A>T (p.Lys2187Met) | ClinVar dbSNP |
| 6 | g.7585620G>A | CA448717110 | DSP | c.7029G>A (p.Lys2343=) c.8358G>A (p.Lys2786=) c.6561G>A (p.Lys2187=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7585620G>C | CA362694990 | DSP | c.7029G>C (p.Lys2343Asn) c.8358G>C (p.Lys2786Asn) c.6561G>C (p.Lys2187Asn) | |
| 6 | g.7585620G= | CA1608615078 | DSP | c.7029G= (p.Lys2343=) c.8358G= (p.Lys2786=) c.6561G= (p.Lys2187=) | |
| 6 | g.7585620G>T | CA362694991 | DSP | c.7029G>T (p.Lys2343Asn) c.8358G>T (p.Lys2786Asn) c.6561G>T (p.Lys2187Asn) | |
| 6 | g.7585621G>A | CA362694992 | DSP | c.7030G>A (p.Asp2344Asn) c.8359G>A (p.Asp2787Asn) c.6562G>A (p.Asp2188Asn) | dbSNP gnomAD v4 |
| 6 | g.7585621G>C | CA362694993 | DSP | c.7030G>C (p.Asp2344His) c.8359G>C (p.Asp2787His) c.6562G>C (p.Asp2188His) | |
| 6 | g.7585621G= | CA1608615082 | DSP | c.7030G= (p.Asp2344=) c.8359G= (p.Asp2787=) c.6562G= (p.Asp2188=) | |
| 6 | g.7585621G>T | CA362694994 | DSP | c.7030G>T (p.Asp2344Tyr) c.8359G>T (p.Asp2787Tyr) c.6562G>T (p.Asp2188Tyr) | gnomAD v4 COSMIC |
| 6 | g.7585622A= | CA1608615086 | DSP | c.7031A= (p.Asp2344=) c.8360A= (p.Asp2787=) c.6563A= (p.Asp2188=) | |
| 6 | g.7585622A>C | CA362694995 | DSP | c.7031A>C (p.Asp2344Ala) c.8360A>C (p.Asp2787Ala) c.6563A>C (p.Asp2188Ala) | |
| 6 | g.7585622A>G | CA362694996 | DSP | c.7031A>G (p.Asp2344Gly) c.8360A>G (p.Asp2787Gly) c.6563A>G (p.Asp2188Gly) | |
| 6 | g.7585622A>T | CA362694997 | DSP | c.7031A>T (p.Asp2344Val) c.8360A>T (p.Asp2787Val) c.6563A>T (p.Asp2188Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585623T>A | CA362694998 | DSP | c.7032T>A (p.Asp2344Glu) c.8361T>A (p.Asp2787Glu) c.6564T>A (p.Asp2188Glu) | |
| 6 | g.7585623T>C | CA448717113 | DSP | c.7032T>C (p.Asp2344=) c.8361T>C (p.Asp2787=) c.6564T>C (p.Asp2188=) | gnomAD v4 |
| 6 | g.7585623T>G | CA362694999 | DSP | c.7032T>G (p.Asp2344Glu) c.8361T>G (p.Asp2787Glu) c.6564T>G (p.Asp2188Glu) | |
| 6 | g.7585624G>A | CA362695000 | DSP | c.7033G>A (p.Ala2345Thr) c.8362G>A (p.Ala2788Thr) c.6565G>A (p.Ala2189Thr) | |
| 6 | g.7585624G>C | CA362695001 | DSP | c.7033G>C (p.Ala2345Pro) c.8362G>C (p.Ala2788Pro) c.6565G>C (p.Ala2189Pro) | |
| 6 | g.7585624G>T | CA362695002 | DSP | c.7033G>T (p.Ala2345Ser) c.8362G>T (p.Ala2788Ser) c.6565G>T (p.Ala2189Ser) | |
| 6 | g.7585625C>A | CA362695003 | DSP | c.7034C>A (p.Ala2345Asp) c.8363C>A (p.Ala2788Asp) c.6566C>A (p.Ala2189Asp) | |
| 6 | g.7585625C= | CA1608615090 | DSP | c.7034C= (p.Ala2345=) c.8363C= (p.Ala2788=) c.6566C= (p.Ala2189=) | |
| 6 | g.7585625C>G | CA362695004 | DSP | c.7034C>G (p.Ala2345Gly) c.8363C>G (p.Ala2788Gly) c.6566C>G (p.Ala2189Gly) | |
| 6 | g.7585625C>T | CA052109 | DSP | c.7034C>T (p.Ala2345Val) c.8363C>T (p.Ala2788Val) c.6566C>T (p.Ala2189Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585626C>A | CA448717120 | DSP | c.7035C>A (p.Ala2345=) c.8364C>A (p.Ala2788=) c.6567C>A (p.Ala2189=) | |
| 6 | g.7585626C= | CA1608615097 | DSP | c.7035C= (p.Ala2345=) c.8364C= (p.Ala2788=) c.6567C= (p.Ala2189=) | |
| 6 | g.7585626C>G | CA448717121 | DSP | c.7035C>G (p.Ala2345=) c.8364C>G (p.Ala2788=) c.6567C>G (p.Ala2189=) | dbSNP |
| 6 | g.7585626C>T | CA052119 | DSP | c.7035C>T (p.Ala2345=) c.8364C>T (p.Ala2788=) c.6567C>T (p.Ala2189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585627A= | CA1608615104 | DSP | c.7036A= (p.Ile2346=) c.8365A= (p.Ile2789=) c.6568A= (p.Ile2190=) | |
| 6 | g.7585627A>C | CA362695005 | DSP | c.7036A>C (p.Ile2346Leu) c.8365A>C (p.Ile2789Leu) c.6568A>C (p.Ile2190Leu) | |
| 6 | g.7585627A>G | CA007505 | DSP | c.7036A>G (p.Ile2346Val) c.8365A>G (p.Ile2789Val) c.6568A>G (p.Ile2190Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585627A>T | CA362695006 | DSP | c.7036A>T (p.Ile2346Leu) c.8365A>T (p.Ile2789Leu) c.6568A>T (p.Ile2190Leu) | |
| 6 | g.7585628T>A | CA362695007 | DSP | c.7037T>A (p.Ile2346Lys) c.8366T>A (p.Ile2789Lys) c.6569T>A (p.Ile2190Lys) | |
| 6 | g.7585628T>C | CA362695008 | DSP | c.7037T>C (p.Ile2346Thr) c.8366T>C (p.Ile2789Thr) c.6569T>C (p.Ile2190Thr) | |
| 6 | g.7585628T>G | CA362695009 | DSP | c.7037T>G (p.Ile2346Arg) c.8366T>G (p.Ile2789Arg) c.6569T>G (p.Ile2190Arg) | |
| 6 | g.7585629A>C | CA448717123 | DSP | c.7038A>C (p.Ile2346=) c.8367A>C (p.Ile2789=) c.6570A>C (p.Ile2190=) | |
| 6 | g.7585629A>G | CA362695010 | DSP | c.7038A>G (p.Ile2346Met) c.8367A>G (p.Ile2789Met) c.6570A>G (p.Ile2190Met) | |
| 6 | g.7585629A>T | CA448717124 | DSP | c.7038A>T (p.Ile2346=) c.8367A>T (p.Ile2789=) c.6570A>T (p.Ile2190=) | |
| 6 | g.7585630A>C | CA362695011 | DSP | c.7039A>C (p.Asn2347His) c.8368A>C (p.Asn2790His) c.6571A>C (p.Asn2191His) | |
| 6 | g.7585630A>G | CA362695012 | DSP | c.7039A>G (p.Asn2347Asp) c.8368A>G (p.Asn2790Asp) c.6571A>G (p.Asn2191Asp) | |
| 6 | g.7585630A>T | CA362695013 | DSP | c.7039A>T (p.Asn2347Tyr) c.8368A>T (p.Asn2790Tyr) c.6571A>T (p.Asn2191Tyr) | |
| 6 | g.7585631A= | CA1608615111 | DSP | c.7040A= (p.Asn2347=) c.8369A= (p.Asn2790=) c.6572A= (p.Asn2191=) | |
| 6 | g.7585631A>C | CA362695014 | DSP | c.7040A>C (p.Asn2347Thr) c.8369A>C (p.Asn2790Thr) c.6572A>C (p.Asn2191Thr) | |
| 6 | g.7585631A>G | CA052132 | DSP | c.7040A>G (p.Asn2347Ser) c.8369A>G (p.Asn2790Ser) c.6572A>G (p.Asn2191Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585631A>T | CA362695015 | DSP | c.7040A>T (p.Asn2347Ile) c.8369A>T (p.Asn2790Ile) c.6572A>T (p.Asn2191Ile) | |
| 6 | g.7585632T>A | CA362695017 | DSP | c.7041T>A (p.Asn2347Lys) c.8370T>A (p.Asn2790Lys) c.6573T>A (p.Asn2191Lys) | |
| 6 | g.7585632T>C | CA448717125 | DSP | c.7041T>C (p.Asn2347=) c.8370T>C (p.Asn2790=) c.6573T>C (p.Asn2191=) | |
| 6 | g.7585632T>G | CA362695016 | DSP | c.7041T>G (p.Asn2347Lys) c.8370T>G (p.Asn2790Lys) c.6573T>G (p.Asn2191Lys) | |
| 6 | g.7585633C>A | CA362695018 | DSP | c.7042C>A (p.Arg2348Ser) c.8371C>A (p.Arg2791Ser) c.6574C>A (p.Arg2192Ser) | |
| 6 | g.7585633C= | CA1608615118 | DSP | c.7042C= (p.Arg2348=) c.8371C= (p.Arg2791=) c.6574C= (p.Arg2192=) | |
| 6 | g.7585633C>G | CA362695019 | DSP | c.7042C>G (p.Arg2348Gly) c.8371C>G (p.Arg2791Gly) c.6574C>G (p.Arg2192Gly) | ClinVar dbSNP |
| 6 | g.7585633C>T | CA133977876 | DSP | c.7042C>T (p.Arg2348Cys) c.8371C>T (p.Arg2791Cys) c.6574C>T (p.Arg2192Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7585634G>A | CA052149 | DSP | c.7043G>A (p.Arg2348His) c.8372G>A (p.Arg2791His) c.6575G>A (p.Arg2192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585634G>C | CA362695020 | DSP | c.7043G>C (p.Arg2348Pro) c.8372G>C (p.Arg2791Pro) c.6575G>C (p.Arg2192Pro) | |
| 6 | g.7585634G= | CA1608615124 | DSP | c.7043G= (p.Arg2348=) c.8372G= (p.Arg2791=) c.6575G= (p.Arg2192=) | |
| 6 | g.7585634G>T | CA362695021 | DSP | c.7043G>T (p.Arg2348Leu) c.8372G>T (p.Arg2791Leu) c.6575G>T (p.Arg2192Leu) | |
| 6 | g.7585635C>A | CA448717129 | DSP | c.7044C>A (p.Arg2348=) c.8373C>A (p.Arg2791=) c.6576C>A (p.Arg2192=) | |
| 6 | g.7585635C= | CA1608615136 | DSP | c.7044C= (p.Arg2348=) c.8373C= (p.Arg2791=) c.6576C= (p.Arg2192=) | |
| 6 | g.7585635C>G | CA448717130 | DSP | c.7044C>G (p.Arg2348=) c.8373C>G (p.Arg2791=) c.6576C>G (p.Arg2192=) | gnomAD v4 |
| 6 | g.7585635C>T | CA448717131 | DSP | c.7044C>T (p.Arg2348=) c.8373C>T (p.Arg2791=) c.6576C>T (p.Arg2192=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585636T>A | CA007514 | DSP | c.7045T>A (p.Ser2349Thr) c.8374T>A (p.Ser2792Thr) c.6577T>A (p.Ser2193Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585636T>C | CA362695023 | DSP | c.7045T>C (p.Ser2349Pro) c.8374T>C (p.Ser2792Pro) c.6577T>C (p.Ser2193Pro) | |
| 6 | g.7585636T>G | CA362695022 | DSP | c.7045T>G (p.Ser2349Ala) c.8374T>G (p.Ser2792Ala) c.6577T>G (p.Ser2193Ala) | dbSNP |
| 6 | g.7585636T= | CA1608615142 | DSP | c.7045T= (p.Ser2349=) c.8374T= (p.Ser2792=) c.6577T= (p.Ser2193=) | |
| 6 | g.7585637C>A | CA362695024 | DSP | c.7046C>A (p.Ser2349Tyr) c.8375C>A (p.Ser2792Tyr) c.6578C>A (p.Ser2193Tyr) | |
| 6 | g.7585637C>G | CA362695025 | DSP | c.7046C>G (p.Ser2349Cys) c.8375C>G (p.Ser2792Cys) c.6578C>G (p.Ser2193Cys) | |
| 6 | g.7585637C>T | CA362695026 | DSP | c.7046C>T (p.Ser2349Phe) c.8375C>T (p.Ser2792Phe) c.6578C>T (p.Ser2193Phe) | gnomAD v4 |
| 6 | g.7585638C>A | CA448717132 | DSP | c.7047C>A (p.Ser2349=) c.8376C>A (p.Ser2792=) c.6579C>A (p.Ser2193=) | |
| 6 | g.7585638C= | CA1608615151 | DSP | c.7047C= (p.Ser2349=) c.8376C= (p.Ser2792=) c.6579C= (p.Ser2193=) | |
| 6 | g.7585638C>G | CA448717133 | DSP | c.7047C>G (p.Ser2349=) c.8376C>G (p.Ser2792=) c.6579C>G (p.Ser2193=) | |
| 6 | g.7585638C>T | CA448717134 | DSP | c.7047C>T (p.Ser2349=) c.8376C>T (p.Ser2792=) c.6579C>T (p.Ser2193=) | dbSNP |
| 6 | g.7585639A>C | CA362695027 | DSP | c.7048A>C (p.Met2350Leu) c.8377A>C (p.Met2793Leu) c.6580A>C (p.Met2194Leu) | |
| 6 | g.7585639A>G | CA362695028 | DSP | c.7048A>G (p.Met2350Val) c.8377A>G (p.Met2793Val) c.6580A>G (p.Met2194Val) | dbSNP gnomAD v4 |
| 6 | g.7585639A>T | CA362695029 | DSP | c.7048A>T (p.Met2350Leu) c.8377A>T (p.Met2793Leu) c.6580A>T (p.Met2194Leu) | |
| 6 | g.7585640T>A | CA362695030 | DSP | c.7049T>A (p.Met2350Lys) c.8378T>A (p.Met2793Lys) c.6581T>A (p.Met2194Lys) | |
| 6 | g.7585640T>C | CA362695032 | DSP | c.7049T>C (p.Met2350Thr) c.8378T>C (p.Met2793Thr) c.6581T>C (p.Met2194Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585640T>G | CA362695031 | DSP | c.7049T>G (p.Met2350Arg) c.8378T>G (p.Met2793Arg) c.6581T>G (p.Met2194Arg) | |
| 6 | g.7585640T= | CA1608615155 | DSP | c.7049T= (p.Met2350=) c.8378T= (p.Met2793=) c.6581T= (p.Met2194=) | |
| 6 | g.7585641G>A | CA362695033 | DSP | c.7050G>A (p.Met2350Ile) c.8379G>A (p.Met2793Ile) c.6582G>A (p.Met2194Ile) | ClinVar |
| 6 | g.7585641G>C | CA362695034 | DSP | c.7050G>C (p.Met2350Ile) c.8379G>C (p.Met2793Ile) c.6582G>C (p.Met2194Ile) | |
| 6 | g.7585641G>T | CA362695035 | DSP | c.7050G>T (p.Met2350Ile) c.8379G>T (p.Met2793Ile) c.6582G>T (p.Met2194Ile) | |
| 6 | g.7585642G>A | CA362695036 | DSP | c.7051G>A (p.Val2351Ile) c.8380G>A (p.Val2794Ile) c.6583G>A (p.Val2195Ile) | |
| 6 | g.7585642G>C | CA362695037 | DSP | c.7051G>C (p.Val2351Leu) c.8380G>C (p.Val2794Leu) c.6583G>C (p.Val2195Leu) | |
| 6 | g.7585642G>T | CA362695038 | DSP | c.7051G>T (p.Val2351Leu) c.8380G>T (p.Val2794Leu) c.6583G>T (p.Val2195Leu) | |
| 6 | g.7585643T>A | CA362695039 | DSP | c.7052T>A (p.Val2351Glu) c.8381T>A (p.Val2794Glu) c.6584T>A (p.Val2195Glu) | |
| 6 | g.7585643T>C | CA362695040 | DSP | c.7052T>C (p.Val2351Ala) c.8381T>C (p.Val2794Ala) c.6584T>C (p.Val2195Ala) | |
| 6 | g.7585643T>G | CA362695041 | DSP | c.7052T>G (p.Val2351Gly) c.8381T>G (p.Val2794Gly) c.6584T>G (p.Val2195Gly) | |
| 6 | g.7585643_7585646dup | CA2695206020 | DSP | c.7052_7055dup (p.Glu2352AspfsTer?) c.8381_8384dup (p.Glu2795AspfsTer?) c.6584_6587dup (p.Glu2196AspfsTer?) | |
| 6 | g.7585644A= | CA1608615159 | DSP | c.7053A= (p.Val2351=) c.8382A= (p.Val2794=) c.6585A= (p.Val2195=) | |
| 6 | g.7585644A>C | CA448717137 | DSP | c.7053A>C (p.Val2351=) c.8382A>C (p.Val2794=) c.6585A>C (p.Val2195=) | |
| 6 | g.7585644A>G | CA133977889 | DSP | c.7053A>G (p.Val2351=) c.8382A>G (p.Val2794=) c.6585A>G (p.Val2195=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585644A>T | CA448717138 | DSP | c.7053A>T (p.Val2351=) c.8382A>T (p.Val2794=) c.6585A>T (p.Val2195=) | |
| 6 | g.7585645G>A | CA362695042 | DSP | c.7054G>A (p.Glu2352Lys) c.8383G>A (p.Glu2795Lys) c.6586G>A (p.Glu2196Lys) | |
| 6 | g.7585645G>C | CA362695043 | DSP | c.7054G>C (p.Glu2352Gln) c.8383G>C (p.Glu2795Gln) c.6586G>C (p.Glu2196Gln) | |
| 6 | g.7585645G>T | CA362695044 | DSP | c.7054G>T (p.Glu2352Ter) c.8383G>T (p.Glu2795Ter) c.6586G>T (p.Glu2196Ter) | |
| 6 | g.7585646A>C | CA362695047 | DSP | c.7055A>C (p.Glu2352Ala) c.8384A>C (p.Glu2795Ala) c.6587A>C (p.Glu2196Ala) | |
| 6 | g.7585646A>G | CA362695045 | DSP | c.7055A>G (p.Glu2352Gly) c.8384A>G (p.Glu2795Gly) c.6587A>G (p.Glu2196Gly) | |
| 6 | g.7585646A>T | CA362695046 | DSP | c.7055A>T (p.Glu2352Val) c.8384A>T (p.Glu2795Val) c.6587A>T (p.Glu2196Val) | |
| 6 | g.7585647A>C | CA362695048 | DSP | c.7056A>C (p.Glu2352Asp) c.8385A>C (p.Glu2795Asp) c.6588A>C (p.Glu2196Asp) | |
| 6 | g.7585647A>G | CA448717140 | DSP | c.7056A>G (p.Glu2352=) c.8385A>G (p.Glu2795=) c.6588A>G (p.Glu2196=) | |
| 6 | g.7585647A>T | CA362695049 | DSP | c.7056A>T (p.Glu2352Asp) c.8385A>T (p.Glu2795Asp) c.6588A>T (p.Glu2196Asp) | |
| 6 | g.7585648G>A | CA133977890 | DSP | c.7057G>A (p.Asp2353Asn) c.8386G>A (p.Asp2796Asn) c.6589G>A (p.Asp2197Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585648G>C | CA362695050 | DSP | c.7057G>C (p.Asp2353His) c.8386G>C (p.Asp2796His) c.6589G>C (p.Asp2197His) | ClinVar |
| 6 | g.7585648G= | CA1608615163 | DSP | c.7057G= (p.Asp2353=) c.8386G= (p.Asp2796=) c.6589G= (p.Asp2197=) | |
| 6 | g.7585648G>T | CA362695051 | DSP | c.7057G>T (p.Asp2353Tyr) c.8386G>T (p.Asp2796Tyr) c.6589G>T (p.Asp2197Tyr) | |
| 6 | g.7585649A= | CA1608615167 | DSP | c.7058A= (p.Asp2353=) c.8387A= (p.Asp2796=) c.6590A= (p.Asp2197=) | |
| 6 | g.7585649A>C | CA362695052 | DSP | c.7058A>C (p.Asp2353Ala) c.8387A>C (p.Asp2796Ala) c.6590A>C (p.Asp2197Ala) | |
| 6 | g.7585649A>G | CA362695053 | DSP | c.7058A>G (p.Asp2353Gly) c.8387A>G (p.Asp2796Gly) c.6590A>G (p.Asp2197Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585649A>T | CA133977902 | DSP | c.7058A>T (p.Asp2353Val) c.8387A>T (p.Asp2796Val) c.6590A>T (p.Asp2197Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585650T>A | CA362695054 | DSP | c.7059T>A (p.Asp2353Glu) c.8388T>A (p.Asp2796Glu) c.6591T>A (p.Asp2197Glu) | |
| 6 | g.7585650T>C | CA448717142 | DSP | c.7059T>C (p.Asp2353=) c.8388T>C (p.Asp2796=) c.6591T>C (p.Asp2197=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585650T>G | CA362695055 | DSP | c.7059T>G (p.Asp2353Glu) c.8388T>G (p.Asp2796Glu) c.6591T>G (p.Asp2197Glu) | |
| 6 | g.7585650T= | CA1608615173 | DSP | c.7059T= (p.Asp2353=) c.8388T= (p.Asp2796=) c.6591T= (p.Asp2197=) | |
| 6 | g.7585651A= | CA1608615180 | DSP | c.7060A= (p.Ile2354=) c.8389A= (p.Ile2797=) c.6592A= (p.Ile2198=) | |
| 6 | g.7585651A>C | CA362695056 | DSP | c.7060A>C (p.Ile2354Leu) c.8389A>C (p.Ile2797Leu) c.6592A>C (p.Ile2198Leu) | |
| 6 | g.7585651A>G | CA133977905 | DSP | c.7060A>G (p.Ile2354Val) c.8389A>G (p.Ile2797Val) c.6592A>G (p.Ile2198Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585651A>T | CA362695057 | DSP | c.7060A>T (p.Ile2354Phe) c.8389A>T (p.Ile2797Phe) c.6592A>T (p.Ile2198Phe) | |
| 6 | g.7585652del | CA2740094268 | DSP | c.7061del (p.Ile2354ThrfsTer?) c.8390del (p.Ile2797ThrfsTer?) c.6593del (p.Ile2198ThrfsTer?) | ClinVar |
| 6 | g.7585652T>A | CA362695059 | DSP | c.7061T>A (p.Ile2354Asn) c.8390T>A (p.Ile2797Asn) c.6593T>A (p.Ile2198Asn) | dbSNP gnomAD v4 |
| 6 | g.7585652T>C | CA052174 | DSP | c.7061T>C (p.Ile2354Thr) c.8390T>C (p.Ile2797Thr) c.6593T>C (p.Ile2198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585652T>G | CA362695058 | DSP | c.7061T>G (p.Ile2354Ser) c.8390T>G (p.Ile2797Ser) c.6593T>G (p.Ile2198Ser) | |
| 6 | g.7585652T= | CA1608615197 | DSP | c.7061T= (p.Ile2354=) c.8390T= (p.Ile2797=) c.6593T= (p.Ile2198=) | |
| 6 | g.7585653C>A | CA052184 | DSP | c.7062C>A (p.Ile2354=) c.8391C>A (p.Ile2797=) c.6594C>A (p.Ile2198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585653C= | CA1608615200 | DSP | c.7062C= (p.Ile2354=) c.8391C= (p.Ile2797=) c.6594C= (p.Ile2198=) | |
| 6 | g.7585653C>G | CA362695060 | DSP | c.7062C>G (p.Ile2354Met) c.8391C>G (p.Ile2797Met) c.6594C>G (p.Ile2198Met) | |
| 6 | g.7585653C>T | CA133977937 | DSP | c.7062C>T (p.Ile2354=) c.8391C>T (p.Ile2797=) c.6594C>T (p.Ile2198=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585654A= | CA1608615204 | DSP | c.7063A= (p.Thr2355=) c.8392A= (p.Thr2798=) c.6595A= (p.Thr2199=) | |
| 6 | g.7585654A>C | CA362695061 | DSP | c.7063A>C (p.Thr2355Pro) c.8392A>C (p.Thr2798Pro) c.6595A>C (p.Thr2199Pro) | |
| 6 | g.7585654A>G | CA052200 | DSP | c.7063A>G (p.Thr2355Ala) c.8392A>G (p.Thr2798Ala) c.6595A>G (p.Thr2199Ala) | dbSNP ExAC gnomAD v2 |
| 6 | g.7585654A>T | CA133977951 | DSP | c.7063A>T (p.Thr2355Ser) c.8392A>T (p.Thr2798Ser) c.6595A>T (p.Thr2199Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585655C>A | CA362695062 | DSP | c.7064C>A (p.Thr2355Asn) c.8393C>A (p.Thr2798Asn) c.6596C>A (p.Thr2199Asn) | |
| 6 | g.7585655C>G | CA362695063 | DSP | c.7064C>G (p.Thr2355Ser) c.8393C>G (p.Thr2798Ser) c.6596C>G (p.Thr2199Ser) | |
| 6 | g.7585655C>T | CA362695064 | DSP | c.7064C>T (p.Thr2355Ile) c.8393C>T (p.Thr2798Ile) c.6596C>T (p.Thr2199Ile) | |
| 6 | g.7585656T>A | CA052210 | DSP | c.7065T>A (p.Thr2355=) c.8394T>A (p.Thr2798=) c.6597T>A (p.Thr2199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585656T>C | CA448717145 | DSP | c.7065T>C (p.Thr2355=) c.8394T>C (p.Thr2798=) c.6597T>C (p.Thr2199=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585656T>G | CA448717144 | DSP | c.7065T>G (p.Thr2355=) c.8394T>G (p.Thr2798=) c.6597T>G (p.Thr2199=) | |
| 6 | g.7585656T= | CA1608615210 | DSP | c.7065T= (p.Thr2355=) c.8394T= (p.Thr2798=) c.6597T= (p.Thr2199=) | |
| 6 | g.7585657G>A | CA362695065 | DSP | c.7066G>A (p.Gly2356Arg) c.8395G>A (p.Gly2799Arg) c.6598G>A (p.Gly2200Arg) | |
| 6 | g.7585657G>C | CA362695066 | DSP | c.7066G>C (p.Gly2356Arg) c.8395G>C (p.Gly2799Arg) c.6598G>C (p.Gly2200Arg) | |
| 6 | g.7585657G>T | CA362695067 | DSP | c.7066G>T (p.Gly2356Trp) c.8395G>T (p.Gly2799Trp) c.6598G>T (p.Gly2200Trp) | gnomAD v4 |
| 6 | g.7585658G>A | CA362695068 | DSP | c.7067G>A (p.Gly2356Glu) c.8396G>A (p.Gly2799Glu) c.6599G>A (p.Gly2200Glu) | |
| 6 | g.7585658G>C | CA362695070 | DSP | c.7067G>C (p.Gly2356Ala) c.8396G>C (p.Gly2799Ala) c.6599G>C (p.Gly2200Ala) | ClinVar |
| 6 | g.7585658G>T | CA362695069 | DSP | c.7067G>T (p.Gly2356Val) c.8396G>T (p.Gly2799Val) c.6599G>T (p.Gly2200Val) | |
| 6 | g.7585659G>A | CA448717146 | DSP | c.7068G>A (p.Gly2356=) c.8397G>A (p.Gly2799=) c.6600G>A (p.Gly2200=) | |
| 6 | g.7585659G>C | CA448717147 | DSP | c.7068G>C (p.Gly2356=) c.8397G>C (p.Gly2799=) c.6600G>C (p.Gly2200=) | |
| 6 | g.7585659G>T | CA448717148 | DSP | c.7068G>T (p.Gly2356=) c.8397G>T (p.Gly2799=) c.6600G>T (p.Gly2200=) | |
| 6 | g.7585660C>A | CA362695071 | DSP | c.7069C>A (p.Leu2357Met) c.8398C>A (p.Leu2800Met) c.6601C>A (p.Leu2201Met) | |
| 6 | g.7585660C>G | CA362695072 | DSP | c.7069C>G (p.Leu2357Val) c.8398C>G (p.Leu2800Val) c.6601C>G (p.Leu2201Val) | |
| 6 | g.7585660C>T | CA448717149 | DSP | c.7069C>T (p.Leu2357=) c.8398C>T (p.Leu2800=) c.6601C>T (p.Leu2201=) | |
| 6 | g.7585661T>A | CA362695073 | DSP | c.7070T>A (p.Leu2357Gln) c.8399T>A (p.Leu2800Gln) c.6602T>A (p.Leu2201Gln) | |
| 6 | g.7585661T>C | CA362695074 | DSP | c.7070T>C (p.Leu2357Pro) c.8399T>C (p.Leu2800Pro) c.6602T>C (p.Leu2201Pro) | |
| 6 | g.7585661T>G | CA362695075 | DSP | c.7070T>G (p.Leu2357Arg) c.8399T>G (p.Leu2800Arg) c.6602T>G (p.Leu2201Arg) | |
| 6 | g.7585662G>A | CA448717150 | DSP | c.7071G>A (p.Leu2357=) c.8400G>A (p.Leu2800=) c.6603G>A (p.Leu2201=) | |
| 6 | g.7585662G>C | CA448717151 | DSP | c.7071G>C (p.Leu2357=) c.8400G>C (p.Leu2800=) c.6603G>C (p.Leu2201=) | |
| 6 | g.7585662G>T | CA448717152 | DSP | c.7071G>T (p.Leu2357=) c.8400G>T (p.Leu2800=) c.6603G>T (p.Leu2201=) | |
| 6 | g.7585663C>A | CA362695076 | DSP | c.7072C>A (p.Arg2358Ser) c.8401C>A (p.Arg2801Ser) c.6604C>A (p.Arg2202Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585663C= | CA1608615216 | DSP | c.7072C= (p.Arg2358=) c.8401C= (p.Arg2801=) c.6604C= (p.Arg2202=) | |
| 6 | g.7585663C>G | CA052220 | DSP | c.7072C>G (p.Arg2358Gly) c.8401C>G (p.Arg2801Gly) c.6604C>G (p.Arg2202Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585663C>T | CA362695077 | DSP | c.7072C>T (p.Arg2358Cys) c.8401C>T (p.Arg2801Cys) c.6604C>T (p.Arg2202Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585664G>A | CA052230 | DSP | c.7073G>A (p.Arg2358His) c.8402G>A (p.Arg2801His) c.6605G>A (p.Arg2202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585664G>C | CA362695078 | DSP | c.7073G>C (p.Arg2358Pro) c.8402G>C (p.Arg2801Pro) c.6605G>C (p.Arg2202Pro) | |
| 6 | g.7585664G= | CA1608615225 | DSP | c.7073G= (p.Arg2358=) c.8402G= (p.Arg2801=) c.6605G= (p.Arg2202=) | |
| 6 | g.7585664G>T | CA362695079 | DSP | c.7073G>T (p.Arg2358Leu) c.8402G>T (p.Arg2801Leu) c.6605G>T (p.Arg2202Leu) | gnomAD v4 |
| 6 | g.7585665C>A | CA448717156 | DSP | c.7074C>A (p.Arg2358=) c.8403C>A (p.Arg2801=) c.6606C>A (p.Arg2202=) | |
| 6 | g.7585665C>G | CA448717157 | DSP | c.7074C>G (p.Arg2358=) c.8403C>G (p.Arg2801=) c.6606C>G (p.Arg2202=) | ClinVar |
| 6 | g.7585665C>T | CA448717158 | DSP | c.7074C>T (p.Arg2358=) c.8403C>T (p.Arg2801=) c.6606C>T (p.Arg2202=) | |
| 6 | g.7585666C>A | CA133977960 | DSP | c.7075C>A (p.Leu2359Ile) c.8404C>A (p.Leu2802Ile) c.6607C>A (p.Leu2203Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585666C= | CA1608615234 | DSP | c.7075C= (p.Leu2359=) c.8404C= (p.Leu2802=) c.6607C= (p.Leu2203=) | |
| 6 | g.7585666C>G | CA362695080 | DSP | c.7075C>G (p.Leu2359Val) c.8404C>G (p.Leu2802Val) c.6607C>G (p.Leu2203Val) | |
| 6 | g.7585666C>T | CA052241 | DSP | c.7075C>T (p.Leu2359Phe) c.8404C>T (p.Leu2802Phe) c.6607C>T (p.Leu2203Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585667T>A | CA362695083 | DSP | c.7076T>A (p.Leu2359His) c.8405T>A (p.Leu2802His) c.6608T>A (p.Leu2203His) | |
| 6 | g.7585667T>C | CA362695082 | DSP | c.7076T>C (p.Leu2359Pro) c.8405T>C (p.Leu2802Pro) c.6608T>C (p.Leu2203Pro) | |
| 6 | g.7585667T>G | CA362695081 | DSP | c.7076T>G (p.Leu2359Arg) c.8405T>G (p.Leu2802Arg) c.6608T>G (p.Leu2203Arg) | |
| 6 | g.7585668T>A | CA448717159 | DSP | c.7077T>A (p.Leu2359=) c.8406T>A (p.Leu2802=) c.6609T>A (p.Leu2203=) | |
| 6 | g.7585668T>C | CA448717160 | DSP | c.7077T>C (p.Leu2359=) c.8406T>C (p.Leu2802=) c.6609T>C (p.Leu2203=) | |
| 6 | g.7585668T>G | CA448717161 | DSP | c.7077T>G (p.Leu2359=) c.8406T>G (p.Leu2802=) c.6609T>G (p.Leu2203=) | |
| 6 | g.7585669C>A | CA362695084 | DSP | c.7078C>A (p.Leu2360Met) c.8407C>A (p.Leu2803Met) c.6610C>A (p.Leu2204Met) | |
| 6 | g.7585669C>G | CA362695085 | DSP | c.7078C>G (p.Leu2360Val) c.8407C>G (p.Leu2803Val) c.6610C>G (p.Leu2204Val) | |
| 6 | g.7585669C>T | CA448717163 | DSP | c.7078C>T (p.Leu2360=) c.8407C>T (p.Leu2803=) c.6610C>T (p.Leu2204=) | |
| 6 | g.7585670T>A | CA362695086 | DSP | c.7079T>A (p.Leu2360Gln) c.8408T>A (p.Leu2803Gln) c.6611T>A (p.Leu2204Gln) | dbSNP |
| 6 | g.7585670T>C | CA362695087 | DSP | c.7079T>C (p.Leu2360Pro) c.8408T>C (p.Leu2803Pro) c.6611T>C (p.Leu2204Pro) | dbSNP |
| 6 | g.7585670T>G | CA362695088 | DSP | c.7079T>G (p.Leu2360Arg) c.8408T>G (p.Leu2803Arg) c.6611T>G (p.Leu2204Arg) | |
| 6 | g.7585671G>A | CA448717167 | DSP | c.7080G>A (p.Leu2360=) c.8409G>A (p.Leu2803=) c.6612G>A (p.Leu2204=) | |
| 6 | g.7585671G>C | CA448717166 | DSP | c.7080G>C (p.Leu2360=) c.8409G>C (p.Leu2803=) c.6612G>C (p.Leu2204=) | |
| 6 | g.7585671G>T | CA448717165 | DSP | c.7080G>T (p.Leu2360=) c.8409G>T (p.Leu2803=) c.6612G>T (p.Leu2204=) | |
| 6 | g.7585672G>A | CA362695089 | DSP | c.7081G>A (p.Glu2361Lys) c.8410G>A (p.Glu2804Lys) c.6613G>A (p.Glu2205Lys) | |
| 6 | g.7585672G>C | CA362695090 | DSP | c.7081G>C (p.Glu2361Gln) c.8410G>C (p.Glu2804Gln) c.6613G>C (p.Glu2205Gln) | |
| 6 | g.7585672G>T | CA362695091 | DSP | c.7081G>T (p.Glu2361Ter) c.8410G>T (p.Glu2804Ter) c.6613G>T (p.Glu2205Ter) | |
| 6 | g.7585673A= | CA1608615239 | DSP | c.7082A= (p.Glu2361=) c.8411A= (p.Glu2804=) c.6614A= (p.Glu2205=) | |
| 6 | g.7585673A>C | CA362695092 | DSP | c.7082A>C (p.Glu2361Ala) c.8411A>C (p.Glu2804Ala) c.6614A>C (p.Glu2205Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585673A>G | CA362695093 | DSP | c.7082A>G (p.Glu2361Gly) c.8411A>G (p.Glu2804Gly) c.6614A>G (p.Glu2205Gly) | |
| 6 | g.7585673A>T | CA362695094 | DSP | c.7082A>T (p.Glu2361Val) c.8411A>T (p.Glu2804Val) c.6614A>T (p.Glu2205Val) | |
| 6 | g.7585674A>C | CA362695095 | DSP | c.7083A>C (p.Glu2361Asp) c.8412A>C (p.Glu2804Asp) c.6615A>C (p.Glu2205Asp) | |
| 6 | g.7585674A>G | CA448717168 | DSP | c.7083A>G (p.Glu2361=) c.8412A>G (p.Glu2804=) c.6615A>G (p.Glu2205=) | |
| 6 | g.7585674A>T | CA362695096 | DSP | c.7083A>T (p.Glu2361Asp) c.8412A>T (p.Glu2804Asp) c.6615A>T (p.Glu2205Asp) | |
| 6 | g.7585675G>A | CA362695098 | DSP | c.7084G>A (p.Ala2362Thr) c.8413G>A (p.Ala2805Thr) c.6616G>A (p.Ala2206Thr) | gnomAD v4 |
| 6 | g.7585675G>C | CA362695099 | DSP | c.7084G>C (p.Ala2362Pro) c.8413G>C (p.Ala2805Pro) c.6616G>C (p.Ala2206Pro) | |
| 6 | g.7585675G>T | CA362695097 | DSP | c.7084G>T (p.Ala2362Ser) c.8413G>T (p.Ala2805Ser) c.6616G>T (p.Ala2206Ser) | |
| 6 | g.7585676C>A | CA362695100 | DSP | c.7085C>A (p.Ala2362Asp) c.8414C>A (p.Ala2805Asp) c.6617C>A (p.Ala2206Asp) | |
| 6 | g.7585676C= | CA1608615244 | DSP | c.7085C= (p.Ala2362=) c.8414C= (p.Ala2805=) c.6617C= (p.Ala2206=) | |
| 6 | g.7585676C>G | CA362695101 | DSP | c.7085C>G (p.Ala2362Gly) c.8414C>G (p.Ala2805Gly) c.6617C>G (p.Ala2206Gly) | ClinVar gnomAD v4 |
| 6 | g.7585676C>T | CA052251 | DSP | c.7085C>T (p.Ala2362Val) c.8414C>T (p.Ala2805Val) c.6617C>T (p.Ala2206Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585677C>A | CA448717170 | DSP | c.7086C>A (p.Ala2362=) c.8415C>A (p.Ala2805=) c.6618C>A (p.Ala2206=) | |
| 6 | g.7585677C= | CA1608615252 | DSP | c.7086C= (p.Ala2362=) c.8415C= (p.Ala2805=) c.6618C= (p.Ala2206=) | |
| 6 | g.7585677C>G | CA448717171 | DSP | c.7086C>G (p.Ala2362=) c.8415C>G (p.Ala2805=) c.6618C>G (p.Ala2206=) | |
| 6 | g.7585677C>T | CA007523 | DSP | c.7086C>T (p.Ala2362=) c.8415C>T (p.Ala2805=) c.6618C>T (p.Ala2206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585678G>A | CA133977982 | DSP | c.7087G>A (p.Ala2363Thr) c.8416G>A (p.Ala2806Thr) c.6619G>A (p.Ala2207Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585678G>C | CA362695102 | DSP | c.7087G>C (p.Ala2363Pro) c.8416G>C (p.Ala2806Pro) c.6619G>C (p.Ala2207Pro) | gnomAD v4 |
| 6 | g.7585678G= | CA1608615260 | DSP | c.7087G= (p.Ala2363=) c.8416G= (p.Ala2806=) c.6619G= (p.Ala2207=) | |
| 6 | g.7585678G>T | CA362695103 | DSP | c.7087G>T (p.Ala2363Ser) c.8416G>T (p.Ala2806Ser) c.6619G>T (p.Ala2207Ser) | |
| 6 | g.7585679C>A | CA362695104 | DSP | c.7088C>A (p.Ala2363Asp) c.8417C>A (p.Ala2806Asp) c.6620C>A (p.Ala2207Asp) | |
| 6 | g.7585679C>G | CA362695105 | DSP | c.7088C>G (p.Ala2363Gly) c.8417C>G (p.Ala2806Gly) c.6620C>G (p.Ala2207Gly) | |
| 6 | g.7585679C>T | CA362695106 | DSP | c.7088C>T (p.Ala2363Val) c.8417C>T (p.Ala2806Val) c.6620C>T (p.Ala2207Val) | ClinVar |
| 6 | g.7585680C>A | CA448717173 | DSP | c.7089C>A (p.Ala2363=) c.8418C>A (p.Ala2806=) c.6621C>A (p.Ala2207=) | ClinVar dbSNP |
| 6 | g.7585680C= | CA1608615270 | DSP | c.7089C= (p.Ala2363=) c.8418C= (p.Ala2806=) c.6621C= (p.Ala2207=) | |
| 6 | g.7585680C>G | CA448717174 | DSP | c.7089C>G (p.Ala2363=) c.8418C>G (p.Ala2806=) c.6621C>G (p.Ala2207=) | |
| 6 | g.7585680C>T | CA448717175 | DSP | c.7089C>T (p.Ala2363=) c.8418C>T (p.Ala2806=) c.6621C>T (p.Ala2207=) | |
| 6 | g.7585681T>A | CA362695107 | DSP | c.7090T>A (p.Ser2364Thr) c.8419T>A (p.Ser2807Thr) c.6622T>A (p.Ser2208Thr) | |
| 6 | g.7585681T>C | CA362695108 | DSP | c.7090T>C (p.Ser2364Pro) c.8419T>C (p.Ser2807Pro) c.6622T>C (p.Ser2208Pro) | ClinVar |
| 6 | g.7585681T>G | CA362695109 | DSP | c.7090T>G (p.Ser2364Ala) c.8419T>G (p.Ser2807Ala) c.6622T>G (p.Ser2208Ala) | |
| 6 | g.7585682C>A | CA362695110 | DSP | c.7091C>A (p.Ser2364Tyr) c.8420C>A (p.Ser2807Tyr) c.6623C>A (p.Ser2208Tyr) | |
| 6 | g.7585682C>G | CA362695112 | DSP | c.7091C>G (p.Ser2364Cys) c.8420C>G (p.Ser2807Cys) c.6623C>G (p.Ser2208Cys) | |
| 6 | g.7585682C>T | CA362695111 | DSP | c.7091C>T (p.Ser2364Phe) c.8420C>T (p.Ser2807Phe) c.6623C>T (p.Ser2208Phe) | |
| 6 | g.7585683C>A | CA448717176 | DSP | c.7092C>A (p.Ser2364=) c.8421C>A (p.Ser2807=) c.6624C>A (p.Ser2208=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585683C= | CA1608615279 | DSP | c.7092C= (p.Ser2364=) c.8421C= (p.Ser2807=) c.6624C= (p.Ser2208=) | |
| 6 | g.7585683C>G | CA448717177 | DSP | c.7092C>G (p.Ser2364=) c.8421C>G (p.Ser2807=) c.6624C>G (p.Ser2208=) | |
| 6 | g.7585683C>T | CA052285 | DSP | c.7092C>T (p.Ser2364=) c.8421C>T (p.Ser2807=) c.6624C>T (p.Ser2208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585684G>A | CA052294 | DSP | c.7093G>A (p.Val2365Met) c.8422G>A (p.Val2808Met) c.6625G>A (p.Val2209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585684G>C | CA362695113 | DSP | c.7093G>C (p.Val2365Leu) c.8422G>C (p.Val2808Leu) c.6625G>C (p.Val2209Leu) | gnomAD v4 |
| 6 | g.7585684G= | CA1608615283 | DSP | c.7093G= (p.Val2365=) c.8422G= (p.Val2808=) c.6625G= (p.Val2209=) | |
| 6 | g.7585684G>T | CA362695114 | DSP | c.7093G>T (p.Val2365Leu) c.8422G>T (p.Val2808Leu) c.6625G>T (p.Val2209Leu) | |
| 6 | g.7585685T>A | CA362695115 | DSP | c.7094T>A (p.Val2365Glu) c.8423T>A (p.Val2808Glu) c.6626T>A (p.Val2209Glu) | |
| 6 | g.7585685T>C | CA362695116 | DSP | c.7094T>C (p.Val2365Ala) c.8423T>C (p.Val2808Ala) c.6626T>C (p.Val2209Ala) | |
| 6 | g.7585685T>G | CA362695117 | DSP | c.7094T>G (p.Val2365Gly) c.8423T>G (p.Val2808Gly) c.6626T>G (p.Val2209Gly) | |
| 6 | g.7585686G>A | CA448717181 | DSP | c.7095G>A (p.Val2365=) c.8424G>A (p.Val2808=) c.6627G>A (p.Val2209=) | |
| 6 | g.7585686G>C | CA448717183 | DSP | c.7095G>C (p.Val2365=) c.8424G>C (p.Val2808=) c.6627G>C (p.Val2209=) | |
| 6 | g.7585686G>T | CA448717182 | DSP | c.7095G>T (p.Val2365=) c.8424G>T (p.Val2808=) c.6627G>T (p.Val2209=) | |
| 6 | g.7585687T>A | CA362695118 | DSP | c.7096T>A (p.Ser2366Thr) c.8425T>A (p.Ser2809Thr) c.6628T>A (p.Ser2210Thr) | |
| 6 | g.7585687T>C | CA362695119 | DSP | c.7096T>C (p.Ser2366Pro) c.8425T>C (p.Ser2809Pro) c.6628T>C (p.Ser2210Pro) | |
| 6 | g.7585687T>G | CA362695120 | DSP | c.7096T>G (p.Ser2366Ala) c.8425T>G (p.Ser2809Ala) c.6628T>G (p.Ser2210Ala) | |
| 6 | g.7585688C>A | CA362695122 | DSP | c.7097C>A (p.Ser2366Ter) c.8426C>A (p.Ser2809Ter) c.6629C>A (p.Ser2210Ter) | |
| 6 | g.7585688C= | CA1608615293 | DSP | c.7097C= (p.Ser2366=) c.8426C= (p.Ser2809=) c.6629C= (p.Ser2210=) | |
| 6 | g.7585688C>G | CA362695123 | DSP | c.7097C>G (p.Ser2366Trp) c.8426C>G (p.Ser2809Trp) c.6629C>G (p.Ser2210Trp) | gnomAD v4 |
| 6 | g.7585688C>T | CA362695121 | DSP | c.7097C>T (p.Ser2366Leu) c.8426C>T (p.Ser2809Leu) c.6629C>T (p.Ser2210Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585689G>A | CA448717184 | DSP | c.7098G>A (p.Ser2366=) c.8427G>A (p.Ser2809=) c.6630G>A (p.Ser2210=) | dbSNP gnomAD v2 |
| 6 | g.7585689G>C | CA448717185 | DSP | c.7098G>C (p.Ser2366=) c.8427G>C (p.Ser2809=) c.6630G>C (p.Ser2210=) | |
| 6 | g.7585689G= | CA1608615295 | DSP | c.7098G= (p.Ser2366=) c.8427G= (p.Ser2809=) c.6630G= (p.Ser2210=) | |
| 6 | g.7585689G>T | CA448717186 | DSP | c.7098G>T (p.Ser2366=) c.8427G>T (p.Ser2809=) c.6630G>T (p.Ser2210=) | dbSNP |
| 6 | g.7585690T>A | CA362695126 | DSP | c.7099T>A (p.Ser2367Thr) c.8428T>A (p.Ser2810Thr) c.6631T>A (p.Ser2211Thr) | |
| 6 | g.7585690T>C | CA362695124 | DSP | c.7099T>C (p.Ser2367Pro) c.8428T>C (p.Ser2810Pro) c.6631T>C (p.Ser2211Pro) | gnomAD v4 |
| 6 | g.7585690T>G | CA362695125 | DSP | c.7099T>G (p.Ser2367Ala) c.8428T>G (p.Ser2810Ala) c.6631T>G (p.Ser2211Ala) | |
| 6 | g.7585691C>A | CA362695127 | DSP | c.7100C>A (p.Ser2367Tyr) c.8429C>A (p.Ser2810Tyr) c.6632C>A (p.Ser2211Tyr) | |
| 6 | g.7585691C= | CA1608615300 | DSP | c.7100C= (p.Ser2367=) c.8429C= (p.Ser2810=) c.6632C= (p.Ser2211=) | |
| 6 | g.7585691C>G | CA362695128 | DSP | c.7100C>G (p.Ser2367Cys) c.8429C>G (p.Ser2810Cys) c.6632C>G (p.Ser2211Cys) | |
| 6 | g.7585691C>T | CA362695129 | DSP | c.7100C>T (p.Ser2367Phe) c.8429C>T (p.Ser2810Phe) c.6632C>T (p.Ser2211Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585692C>A | CA448717190 | DSP | c.7101C>A (p.Ser2367=) c.8430C>A (p.Ser2810=) c.6633C>A (p.Ser2211=) | ClinVar dbSNP |
| 6 | g.7585692C= | CA1608615308 | DSP | c.7101C= (p.Ser2367=) c.8430C= (p.Ser2810=) c.6633C= (p.Ser2211=) | |
| 6 | g.7585692C>G | CA448717191 | DSP | c.7101C>G (p.Ser2367=) c.8430C>G (p.Ser2810=) c.6633C>G (p.Ser2211=) | |
| 6 | g.7585692C>T | CA448717192 | DSP | c.7101C>T (p.Ser2367=) c.8430C>T (p.Ser2810=) c.6633C>T (p.Ser2211=) | ClinVar dbSNP |
| 6 | g.7585693A= | CA1608615311 | DSP | c.7102A= (p.Lys2368=) c.8431A= (p.Lys2811=) c.6634A= (p.Lys2212=) | |
| 6 | g.7585693A>C | CA362695131 | DSP | c.7102A>C (p.Lys2368Gln) c.8431A>C (p.Lys2811Gln) c.6634A>C (p.Lys2212Gln) | |
| 6 | g.7585693A>G | CA052305 | DSP | c.7102A>G (p.Lys2368Glu) c.8431A>G (p.Lys2811Glu) c.6634A>G (p.Lys2212Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585693A>T | CA362695130 | DSP | c.7102A>T (p.Lys2368Ter) c.8431A>T (p.Lys2811Ter) c.6634A>T (p.Lys2212Ter) | |
| 6 | g.7585694A>C | CA362695132 | DSP | c.7103A>C (p.Lys2368Thr) c.8432A>C (p.Lys2811Thr) c.6635A>C (p.Lys2212Thr) | ClinVar |
| 6 | g.7585694A>G | CA362695133 | DSP | c.7103A>G (p.Lys2368Arg) c.8432A>G (p.Lys2811Arg) c.6635A>G (p.Lys2212Arg) | |
| 6 | g.7585694A>T | CA362695134 | DSP | c.7103A>T (p.Lys2368Met) c.8432A>T (p.Lys2811Met) c.6635A>T (p.Lys2212Met) | |
| 6 | g.7585695G>A | CA052317 | DSP | c.7104G>A (p.Lys2368=) c.8433G>A (p.Lys2811=) c.6636G>A (p.Lys2212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585695G>C | CA362695135 | DSP | c.7104G>C (p.Lys2368Asn) c.8433G>C (p.Lys2811Asn) c.6636G>C (p.Lys2212Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585695G= | CA1608615326 | DSP | c.7104G= (p.Lys2368=) c.8433G= (p.Lys2811=) c.6636G= (p.Lys2212=) | |
| 6 | g.7585695G>T | CA362695136 | DSP | c.7104G>T (p.Lys2368Asn) c.8433G>T (p.Lys2811Asn) c.6636G>T (p.Lys2212Asn) | |
| 6 | g.7585696G>A | CA362695137 | DSP | c.7105G>A (p.Gly2369Ser) c.8434G>A (p.Gly2812Ser) c.6637G>A (p.Gly2213Ser) | ClinVar |
| 6 | g.7585696G>C | CA362695139 | DSP | c.7105G>C (p.Gly2369Arg) c.8434G>C (p.Gly2812Arg) c.6637G>C (p.Gly2213Arg) | |
| 6 | g.7585696G>T | CA362695138 | DSP | c.7105G>T (p.Gly2369Cys) c.8434G>T (p.Gly2812Cys) c.6637G>T (p.Gly2213Cys) | |
| 6 | g.7585697G>A | CA362695140 | DSP | c.7106G>A (p.Gly2369Asp) c.8435G>A (p.Gly2812Asp) c.6638G>A (p.Gly2213Asp) | |
| 6 | g.7585697G>C | CA362695141 | DSP | c.7106G>C (p.Gly2369Ala) c.8435G>C (p.Gly2812Ala) c.6638G>C (p.Gly2213Ala) | |
| 6 | g.7585697G>T | CA362695142 | DSP | c.7106G>T (p.Gly2369Val) c.8435G>T (p.Gly2812Val) c.6638G>T (p.Gly2213Val) | |
| 6 | g.7585698C>A | CA448717194 | DSP | c.7107C>A (p.Gly2369=) c.8436C>A (p.Gly2812=) c.6639C>A (p.Gly2213=) | |
| 6 | g.7585698C= | CA1608615334 | DSP | c.7107C= (p.Gly2369=) c.8436C= (p.Gly2812=) c.6639C= (p.Gly2213=) | |
| 6 | g.7585698C>G | CA448717195 | DSP | c.7107C>G (p.Gly2369=) c.8436C>G (p.Gly2812=) c.6639C>G (p.Gly2213=) | |
| 6 | g.7585698C>T | CA448717196 | DSP | c.7107C>T (p.Gly2369=) c.8436C>T (p.Gly2812=) c.6639C>T (p.Gly2213=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585699T>A | CA362695143 | DSP | c.7108T>A (p.Leu2370Ile) c.8437T>A (p.Leu2813Ile) c.6640T>A (p.Leu2214Ile) | |
| 6 | g.7585699T>C | CA448717197 | DSP | c.7108T>C (p.Leu2370=) c.8437T>C (p.Leu2813=) c.6640T>C (p.Leu2214=) | |
| 6 | g.7585699T>G | CA362695144 | DSP | c.7108T>G (p.Leu2370Val) c.8437T>G (p.Leu2813Val) c.6640T>G (p.Leu2214Val) | |
| 6 | g.7585700T>A | CA362695145 | DSP | c.7109T>A (p.Leu2370Ter) c.8438T>A (p.Leu2813Ter) c.6641T>A (p.Leu2214Ter) | |
| 6 | g.7585700T>C | CA362695146 | DSP | c.7109T>C (p.Leu2370Ser) c.8438T>C (p.Leu2813Ser) c.6641T>C (p.Leu2214Ser) | ClinVar |
| 6 | g.7585700T>G | CA362695147 | DSP | c.7109T>G (p.Leu2370Ter) c.8438T>G (p.Leu2813Ter) c.6641T>G (p.Leu2214Ter) | |
| 6 | g.7585701A= | CA1608615337 | DSP | c.7110A= (p.Leu2370=) c.8439A= (p.Leu2813=) c.6642A= (p.Leu2214=) | |
| 6 | g.7585701A>C | CA362695148 | DSP | c.7110A>C (p.Leu2370Phe) c.8439A>C (p.Leu2813Phe) c.6642A>C (p.Leu2214Phe) | |
| 6 | g.7585701A>G | CA448717198 | DSP | c.7110A>G (p.Leu2370=) c.8439A>G (p.Leu2813=) c.6642A>G (p.Leu2214=) | |
| 6 | g.7585701A>T | CA362695149 | DSP | c.7110A>T (p.Leu2370Phe) c.8439A>T (p.Leu2813Phe) c.6642A>T (p.Leu2214Phe) |