7-140453136-A-T |
c.1799T>A |
p.Val600Glu |
Missense |
15/18 |
- |
15115 |
7-140453136-AC-TT |
c.1798_1799delinsAA |
p.Val600Lys |
Missense |
15/18 |
- |
1394 |
7-140453136-A-C |
c.1799T>G |
p.Val600Gly |
Missense |
15/18 |
- |
161 |
7-140453134-T-C |
c.1801A>G |
p.Lys601Glu |
Missense |
15/18 |
- |
626 |
7-140453139-G-A |
c.1796C>T |
p.Thr599Ile |
Missense |
15/18 |
- |
104 |
7-140453145-A-C |
c.1790T>G |
p.Leu597Arg |
Missense |
15/18 |
- |
187 |
7-140453136-AC-CT |
c.1798_1799delinsAG |
p.Val600Arg |
Missense |
15/18 |
- |
476 |
7-140453135-CA-GT |
c.1799_1800delinsAC |
p.Val600Asp |
Missense |
15/18 |
- |
418 |
7-140453146-G-C |
c.1789C>G |
p.Leu597Val |
Missense |
15/18 |
- |
154 |
7-140453130-G-T |
c.1805C>A |
p.Ser602Tyr |
Missense |
15/18 |
- |
8 |
7-140453132-T-G |
c.1803A>C |
p.Lys601Asn |
Missense |
15/18 |
- |
139 |
7-140453132-T-A |
c.1803A>T |
p.Lys601Asn |
Missense |
15/18 |
- |
157 |
7-140453145-AG-GA |
c.1789_1790delinsTC |
p.Leu597Ser |
Missense |
15/18 |
- |
104 |
7-140453132-TTTCA-AT |
c.1799_1803delinsAT |
p.Val600_Lys601delinsAsp |
MultiAAMissense |
15/18 |
- |
2 |
7-140453145-A-T |
c.1790T>A |
p.Leu597Gln |
Missense |
15/18 |
- |
169 |
7-140453137-C-T |
c.1798G>A |
p.Val600Met |
Missense |
15/18 |
- |
249 |
7-140453136-A-G |
c.1799T>C |
p.Val600Ala |
Missense |
15/18 |
- |
102 |
7-140453132-ATTT-A |
c.1801_1803del |
p.Lys601del |
InFrameDeletion |
15/18 |
- |
36 |
7-140453133-T-G |
c.1802A>C |
p.Lys601Thr |
Missense |
15/18 |
- |
29 |
7-140453146-G-T |
c.1789C>A |
p.Leu597Ile |
Missense |
15/18 |
- |
5 |
7-140453135-C-T |
c.1800G>A |
p.Val600Val |
Synonymous |
15/18 |
- |
35 |
7-140453135-C-G |
c.1800G>C |
p.Val600Val |
Synonymous |
15/18 |
- |
27 |
7-140453135-C-A |
c.1800G>T |
p.Val600Val |
Synonymous |
15/18 |
- |
32 |
7-140453134-TTCA-T |
c.1799_1801del |
p.Val600_Lys601delinsGlu |
MultiAAMissense |
15/18 |
- |
42 |
7-140453137-C-A |
c.1798G>T |
p.Val600Leu |
Missense |
15/18 |
- |
63 |
7-140453137-C-CTGTTGT |
c.1797_1798insACAACA |
p.Thr599_Val600insThrThr |
InFrameInsertion |
15/18 |
- |
16 |
7-140453130-G-A |
c.1805C>T |
p.Ser602Phe |
Missense |
15/18 |
- |
9 |
7-140453133-T-C |
c.1802A>G |
p.Lys601Arg |
Missense |
15/18 |
- |
21 |
7-140453128-G-A |
c.1807C>T |
p.Arg603* |
Nonsense |
15/18 |
- |
29 |
7-140453143-C-T |
c.1792G>A |
p.Ala598Thr |
Missense |
15/18 |
- |
14 |
7-140453135-CA-AT |
c.1799_1800delinsAT |
p.Val600Asp |
Missense |
15/18 |
- |
193 |
7-140453132-T-C |
c.1803A>G |
p.Lys601Lys |
Synonymous |
15/18 |
- |
12 |
7-140453139-G-C |
c.1796C>G |
p.Thr599Arg |
Missense |
15/18 |
- |
47 |
7-140453134-T-G |
c.1801A>C |
p.Lys601Gln |
Missense |
15/18 |
- |
41 |
7-140453147-A-C |
c.1788T>G |
p.Gly596Gly |
Synonymous |
15/18 |
- |
3 |
7-140453147-A-T |
c.1788T>A |
p.Gly596Gly |
Synonymous |
15/18 |
- |
3 |
7-140453147-A-G |
c.1788T>C |
p.Gly596Gly |
Synonymous |
15/18 |
- |
6 |
7-140453136-AC-TA |
c.1798_1799delinsTA |
p.Val600* |
Nonsense |
15/18 |
- |
25 |
7-140453136-AC-TG |
c.1798_1799delinsCA |
p.Val600Gln |
Missense |
15/18 |
- |
22 |
7-140453137-C-G |
c.1798G>C |
p.Val600Leu |
Missense |
15/18 |
- |
61 |
7-140453133-TT-AG |
c.1801_1802delinsCT |
p.Lys601Leu |
Missense |
15/18 |
- |
9 |
7-140453140-T-C |
c.1795A>G |
p.Thr599Ala |
Missense |
15/18 |
- |
14 |
7-140453139-GT-TC |
c.1795_1796delinsGA |
p.Thr599Glu |
Missense |
15/18 |
- |
8 |
7-140453133-T-A |
c.1802A>T |
p.Lys601Ile |
Missense |
15/18 |
- |
32 |
7-140453132-TTTCA-GAGAT |
c.1799_1803delinsATCTC |
p.Val600_Lys601delinsAspLeu |
MultiAAMissense |
15/18 |
- |
1 |
7-140453138-TG-AGGGA |
c.1796_1797delinsTCCCT |
p.Thr599delinsIlePro |
MultiAAMissense |
15/18 |
- |
2 |
7-140453127-C-T |
c.1808G>A |
p.Arg603Gln |
Missense |
15/18 |
- |
24 |
7-140453135-CAC-AAA |
c.1798_1800delinsTTT |
p.Val600Phe |
Missense |
15/18 |
- |
19 |
7-140453138-CTGT-C |
c.1795_1797del |
p.Thr599del |
InFrameDeletion |
15/18 |
- |
11 |
7-140453140-T-TAAC |
c.1794_1795insGTT |
p.Ala598_Thr599insVal |
InFrameInsertion |
15/18 |
- |
13 |
7-140453142-G-A |
c.1793C>T |
p.Ala598Val |
Missense |
15/18 |
- |
38 |
7-140453138-T-C |
c.1797A>G |
p.Thr599Thr |
Synonymous |
15/18 |
- |
12 |
7-140453138-T-A |
c.1797A>T |
p.Thr599Thr |
Synonymous |
15/18 |
- |
9 |
7-140453134-TCA-AGG |
c.1799_1801delinsCCT |
p.Val600_Lys601delinsAla* |
MultiAAMissense |
15/18 |
- |
1 |
7-140453144-T-C |
c.1791A>G |
p.Leu597Leu |
Synonymous |
15/18 |
- |
12 |
7-140453132-TTT-GATCTC |
c.1801_1803delinsGAGATC |
p.Lys601delinsGluIle |
MultiAAMissense |
15/18 |
- |
1 |
7-140453138-T-G |
c.1797A>C |
p.Thr599Thr |
Synonymous |
15/18 |
- |
13 |
7-140453136-A-ACTGTACCTGCAAGAAAGT |
c.1798_1799insACTTTCTTGCAGGTACAG |
p.Thr599_Val600insAspPheLeuAlaGlyThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453129-A-C |
c.1806T>G |
p.Ser602Ser |
Synonymous |
15/18 |
- |
2 |
7-140453129-A-G |
c.1806T>C |
p.Ser602Ser |
Synonymous |
15/18 |
- |
2 |
7-140453129-A-T |
c.1806T>A |
p.Ser602Ser |
Synonymous |
15/18 |
- |
2 |
7-140453139-G-GTTGCAAGACCAAAGTTACCCTTCT |
c.1795_1796insAGAAGGGTAACTTTGGTCTTGCAA |
p.Ala598_Thr599insLysLysGlyAsnPheGlyLeuAla |
InFrameInsertion |
15/18 |
- |
1 |
7-140453145-A-G |
c.1790T>C |
p.Leu597Pro |
Missense |
15/18 |
- |
15 |
7-140453125-ATCGAGATTTCAC-A |
c.1798_1809del |
p.Val600_Arg603del |
InFrameDeletion |
15/18 |
- |
5 |
7-140453136-A-ACTGTAGTCT |
c.1798_1799insAGACTACAG |
p.Thr599_Val600insGluThrThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453140-T-A |
c.1795A>T |
p.Thr599Ser |
Missense |
15/18 |
- |
3 |
7-140453131-A-C |
c.1804T>G |
p.Ser602Ala |
Missense |
15/18 |
- |
3 |
7-140453130-GA-TC |
c.1804_1805inv |
p.Ser602Asp |
Missense |
15/18 |
- |
2 |
7-140453135-CAC-ATG |
c.1798_1800delinsCAT |
p.Val600His |
Missense |
15/18 |
- |
2 |
7-140453136-AC-CA |
c.1798_1799delinsTG |
p.Val600Trp |
Missense |
15/18 |
- |
1 |
7-140453144-TAG-ATA |
c.1789_1791delinsTAT |
p.Leu597Tyr |
Missense |
15/18 |
- |
1 |
7-140453142-G-T |
c.1793C>A |
p.Ala598Asp |
Missense |
15/18 |
- |
1 |
7-140453145-AG-TT |
c.1789_1790delinsAA |
p.Leu597Lys |
Missense |
15/18 |
- |
3 |
7-140453135-CA-AAGTG |
c.1799_1800delinsCACTT |
p.Val600delinsAlaLeu |
MultiAAMissense |
15/18 |
- |
2 |
7-140453131-ATTTCAC-A |
c.1798_1803del |
p.Val600_Lys601del |
InFrameDeletion |
15/18 |
- |
2 |
7-140453127-C-A |
c.1808G>T |
p.Arg603Leu |
Missense |
15/18 |
- |
6 |
7-140453141-A-T |
c.1794T>A |
p.Ala598Ala |
Synonymous |
15/18 |
- |
10 |
7-140453131-A-G |
c.1804T>C |
p.Ser602Pro |
Missense |
15/18 |
- |
3 |
7-140453141-A-C |
c.1794T>G |
p.Ala598Ala |
Synonymous |
15/18 |
- |
7 |
7-140453141-A-G |
c.1794T>C |
p.Ala598Ala |
Synonymous |
15/18 |
- |
10 |
7-140453138-TG-CA |
c.1796_1797inv |
p.Thr599Met |
Missense |
15/18 |
- |
1 |
7-140453138-TGT-GTC |
c.1795_1797delinsGAC |
p.Thr599Asp |
Missense |
15/18 |
- |
2 |
7-140453136-AC-GT |
c.1798_1799inv |
p.Val600Thr |
Missense |
15/18 |
- |
1 |
7-140453136-CA-C |
c.1799del |
p.Val600Glyfs*50 |
Frameshift |
15/18 |
- |
2 |
7-140453135-CA-TT |
c.1799_1800delinsAA |
p.Val600Glu |
Missense |
15/18 |
- |
20 |
7-140453140-T-TTAC |
c.1794_1795insGTA |
p.Ala598_Thr599insVal |
InFrameInsertion |
15/18 |
- |
5 |
7-140453142-G-C |
c.1793C>G |
p.Ala598Gly |
Missense |
15/18 |
- |
1 |
7-140453139-G-T |
c.1796C>A |
p.Thr599Lys |
Missense |
15/18 |
- |
6 |
7-140453136-A-ACTGTTGCAAGACCAAAGT |
c.1798_1799insACTTTGGTCTTGCAACAG |
p.Asp594_Thr599dup |
InFrameInsertion |
15/18 |
- |
12 |
7-140453143-C-CTGT |
c.1791_1792insACA |
p.Leu597_Ala598insThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453144-T-A |
c.1791A>T |
p.Leu597Leu |
Synonymous |
15/18 |
- |
10 |
7-140453144-T-G |
c.1791A>C |
p.Leu597Leu |
Synonymous |
15/18 |
- |
7 |
7-140453146-G-A |
c.1789C>T |
p.Leu597Leu |
Synonymous |
15/18 |
- |
14 |
7-140453126-TCG-AAA |
c.1807_1809delinsTTT |
p.Arg603Phe |
Missense |
15/18 |
- |
1 |
7-140453135-CAC-GTT |
c.1798_1800delinsAAC |
p.Val600Asn |
Missense |
15/18 |
- |
2 |
7-140453141-AGC-CAT |
c.1792_1794delinsATG |
p.Ala598Met |
Missense |
15/18 |
- |
1 |
7-140453141-AGC-CTT |
c.1792_1794delinsAAG |
p.Ala598Lys |
Missense |
15/18 |
- |
1 |
7-140453141-AGC-CCA |
c.1792_1794delinsTGG |
p.Ala598Trp |
Missense |
15/18 |
- |
1 |
7-140453135-CAC-ATA |
c.1798_1800delinsTAT |
p.Val600Tyr |
Missense |
15/18 |
- |
1 |
7-140453138-TG-GT |
c.1796_1797delinsAC |
p.Thr599Asn |
Missense |
15/18 |
- |
1 |
7-140453144-TAG-ACA |
c.1789_1791delinsTGT |
p.Leu597Cys |
Missense |
15/18 |
- |
1 |
7-140453135-CAC-ACA |
c.1798_1800delinsTGT |
p.Val600Cys |
Missense |
15/18 |
- |
1 |
7-140453129-AGA-CTC |
c.1804_1806delinsGAG |
p.Ser602Glu |
Missense |
15/18 |
- |
1 |
7-140453141-AGC-TTG |
c.1792_1794delinsCAA |
p.Ala598Gln |
Missense |
15/18 |
- |
1 |
7-140453138-TGT-ATG |
c.1795_1797delinsCAT |
p.Thr599His |
Missense |
15/18 |
- |
1 |
7-140453136-A-AAAT |
c.1798_1799insATT |
p.Val600delinsAspLeu |
MultiAAMissense |
15/18 |
- |
1 |
7-140453126-TCG-CAT |
c.1807_1809delinsATG |
p.Arg603Met |
Missense |
15/18 |
- |
1 |
7-140453132-TTT-ACA |
c.1801_1803delinsTGT |
p.Lys601Cys |
Missense |
15/18 |
- |
1 |
7-140453132-TTT-CCA |
c.1801_1803delinsTGG |
p.Lys601Trp |
Missense |
15/18 |
- |
1 |
7-140453126-TCG-ATA |
c.1807_1809delinsTAT |
p.Arg603Tyr |
Missense |
15/18 |
- |
1 |
7-140453138-TGT-ATA |
c.1795_1797delinsTAT |
p.Thr599Tyr |
Missense |
15/18 |
- |
1 |
7-140453144-TAG-GTC |
c.1789_1791delinsGAC |
p.Leu597Asp |
Missense |
15/18 |
- |
2 |
7-140453144-TAG-CCA |
c.1789_1791delinsTGG |
p.Leu597Trp |
Missense |
15/18 |
- |
1 |
7-140453144-TAG-GTT |
c.1789_1791delinsAAC |
p.Leu597Asn |
Missense |
15/18 |
- |
1 |
7-140453126-TCG-GTT |
c.1807_1809delinsAAC |
p.Arg603Asn |
Missense |
15/18 |
- |
1 |
7-140453129-AGA-CAT |
c.1804_1806delinsATG |
p.Ser602Met |
Missense |
15/18 |
- |
1 |
7-140453129-AGA-CTT |
c.1804_1806delinsAAG |
p.Ser602Lys |
Missense |
15/18 |
- |
1 |
7-140453138-TGT-CCA |
c.1795_1797delinsTGG |
p.Thr599Trp |
Missense |
15/18 |
- |
2 |
7-140453132-TTT-AAA |
c.1801_1803inv |
p.Lys601Phe |
Missense |
15/18 |
- |
1 |
7-140453129-AGA-TTG |
c.1804_1806delinsCAA |
p.Ser602Gln |
Missense |
15/18 |
- |
1 |
7-140453138-TGT-ACA |
c.1795_1797inv |
p.Thr599Cys |
Missense |
15/18 |
- |
1 |
7-140453138-TGT-AAA |
c.1795_1797delinsTTT |
p.Thr599Phe |
Missense |
15/18 |
- |
1 |
7-140453137-C-CCCT |
c.1797_1798insAGG |
p.Thr599_Val600insArg |
InFrameInsertion |
15/18 |
- |
1 |
7-140453142-GC-AA |
c.1792_1793delinsTT |
p.Ala598Phe |
Missense |
15/18 |
- |
1 |
7-140453134-T-A |
c.1801A>T |
p.Lys601* |
Nonsense |
15/18 |
- |
3 |
7-140453139-G-GTCC |
c.1795_1796insGGA |
p.Ala598_Thr599insArg |
InFrameInsertion |
15/18 |
- |
1 |
7-140453136-A-ACTGTAATCT |
c.1798_1799insAGATTACAG |
p.Thr599_Val600insGluIleThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453139-G-GTTA |
c.1795_1796insTAA |
p.Ala598_Thr599insIle |
InFrameInsertion |
15/18 |
- |
1 |
7-140453139-G-GTTGCAAGACCAAAGTCACCGATCTTCT |
c.1795_1796insAGAAGATCGGTGACTTTGGTCTTGCAA |
p.Ala598_Thr599insLysLysIleGlyAspPheGlyLeuAla |
InFrameInsertion |
15/18 |
- |
1 |
7-140453136-A-ACTGTTGTCT |
c.1798_1799insAGACAACAG |
p.Thr599_Val600insGluThrThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453145-AG-TA |
c.1789_1790delinsTA |
p.Leu597* |
Nonsense |
15/18 |
- |
4 |
7-140453131-A-T |
c.1804T>A |
p.Ser602Thr |
Missense |
15/18 |
- |
4 |
7-140453126-TCG-CCA |
c.1807_1809delinsTGG |
p.Arg603Trp |
Missense |
15/18 |
- |
1 |
7-140453139-G-GTAA |
c.1795_1796insTTA |
p.Ala598_Thr599insIle |
InFrameInsertion |
15/18 |
- |
1 |
7-140453129-AGA-TGTGTT |
c.1804_1806delinsAACACA |
p.Ser602delinsAsnThr |
MultiAAMissense |
15/18 |
- |
2 |
7-140453130-G-C |
c.1805C>G |
p.Ser602Cys |
Missense |
15/18 |
- |
1 |
7-140453138-T-TGTA |
c.1794_1796dup |
p.Thr599dup |
InFrameInsertion |
15/18 |
- |
4 |
7-140453145-AG-GC |
c.1789_1790delinsGC |
p.Leu597Ala |
Missense |
15/18 |
- |
2 |
7-140453135-CACTGT-AGGGAG |
c.1795_1800delinsCTCCCT |
p.Thr599_Val600delinsLeuPro |
MultiAAMissense |
15/18 |
- |
2 |
7-140453144-TA-AT |
c.1790_1791delinsAT |
p.Leu597His |
Missense |
15/18 |
- |
1 |
7-140453126-ATCG-A |
c.1807_1809del |
p.Arg603del |
InFrameDeletion |
15/18 |
- |
1 |
7-140453139-G-GTGA |
c.1795_1796insTCA |
p.Ala598_Thr599insIle |
InFrameInsertion |
15/18 |
- |
1 |
7-140453137-ACTG-A |
c.1796_1798del |
p.Thr599_Val600delinsMet |
MultiAAMissense |
15/18 |
- |
1 |
7-140453137-C-CTGTAGCTTT |
c.1797_1798insAAAGCTACA |
p.Thr599_Val600insLysAlaThr |
InFrameInsertion |
15/18 |
- |
2 |
7-140453132-TTT-CTCCTC |
c.1801_1803delinsGAGGAG |
p.Lys601delinsGluGlu |
MultiAAMissense |
15/18 |
- |
1 |
7-140453132-TTTCA-GT |
c.1799_1803delinsAC |
p.Val600_Lys601delinsAsp |
MultiAAMissense |
15/18 |
- |
1 |
7-140453138-TGTA-T |
c.1794_1796del |
p.Thr599del |
InFrameDeletion |
15/18 |
- |
4 |
7-140453129-AGA-TGTGTC |
c.1804_1806delinsGACACA |
p.Ser602delinsAspThr |
MultiAAMissense |
15/18 |
- |
1 |
7-140453139-G-GTTGCAAGGA |
c.1795_1796insTCCTTGCAA |
p.Ala598_Thr599insIleLeuAla |
InFrameInsertion |
15/18 |
- |
1 |
7-140453133-TT-CC |
c.1801_1802delinsGG |
p.Lys601Gly |
Missense |
15/18 |
- |
1 |
7-140453136-A-ACTGTTGCCT |
c.1798_1799insAGGCAACAG |
p.Thr599_Val600insGluAlaThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453133-T-TTTACTG |
c.1801_1802insCAGTAA |
p.Thr599_Val600dup |
InFrameInsertion |
15/18 |
- |
1 |
7-140453132-T-TTTTACTGTG |
c.1802_1803insCACAGTAAA |
p.Val600_Lys601insAsnThrVal |
InFrameInsertion |
15/18 |
- |
1 |
7-140453135-TCAC-T |
c.1798_1800del |
p.Val600del |
InFrameDeletion |
15/18 |
- |
1 |
7-140453136-A-ACTGTTGCGATCT |
c.1798_1799insAGATCGCAACAG |
p.Thr599_Val600insGluIleAlaThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453135-CAC-GAT |
c.1798_1800delinsATC |
p.Val600Ile |
Missense |
15/18 |
- |
3 |
7-140453139-GT-AC |
c.1795_1796inv |
p.Thr599Val |
Missense |
15/18 |
- |
1 |
7-140453136-AC-TCCCT |
c.1798_1799delinsAGGGA |
p.Val600delinsArgGlu |
MultiAAMissense |
15/18 |
- |
3 |
7-140453134-TCA-T |
c.1799_1800del |
p.Val600Glufs*11 |
Frameshift |
15/18 |
- |
3 |
7-140453143-C-A |
c.1792G>T |
p.Ala598Ser |
Missense |
15/18 |
- |
1 |
7-140453137-C-CTTG |
c.1797_1798insCAA |
p.Thr599_Val600insGln |
InFrameInsertion |
15/18 |
- |
1 |
7-140453136-AC-GA |
c.1798_1799delinsTC |
p.Val600Ser |
Missense |
15/18 |
- |
2 |
7-140453126-TCG-ACA |
c.1807_1809delinsTGT |
p.Arg603Cys |
Missense |
15/18 |
- |
1 |
7-140453126-T-C |
c.1809A>G |
p.Arg603Arg |
Synonymous |
15/18 |
- |
2 |
7-140453130-GA-AT |
c.1804_1805delinsAT |
p.Ser602Ile |
Missense |
15/18 |
- |
1 |
7-140453137-C-CAAT |
c.1797_1798insATT |
p.Thr599_Val600insIle |
InFrameInsertion |
15/18 |
- |
1 |
7-140453126-TCGAGATTTCACTG-GA |
c.1796_1809delinsTC |
p.Thr599_Arg603delinsIle |
MultiAAMissense |
15/18 |
- |
1 |
7-140453137-C-TGTA |
c.1798delinsTACA |
p.Val600delinsTyrMet |
MultiAAMissense |
15/18 |
- |
1 |
7-140453135-CA-AAGGT |
c.1799_1800delinsACCTT |
p.Val600delinsAspLeu |
MultiAAMissense |
15/18 |
- |
1 |
7-140453141-A-AAAC |
c.1793_1794insGTT |
p.Ala598_Thr599insPhe |
InFrameInsertion |
15/18 |
- |
1 |
7-140453139-G-GGTA |
c.1795_1796insTAC |
p.Thr599delinsIlePro |
MultiAAMissense |
15/18 |
- |
1 |
7-140453141-TAGC-T |
c.1792_1794del |
p.Ala598del |
InFrameDeletion |
15/18 |
- |
1 |
7-140453138-T-TATG |
c.1796_1797insCAT |
p.Thr599_Val600insIle |
InFrameInsertion |
15/18 |
- |
1 |
7-140453128-G-T |
c.1807C>A |
p.Arg603Arg |
Synonymous |
15/18 |
- |
1 |
7-140453126-T-G |
c.1809A>C |
p.Arg603Arg |
Synonymous |
15/18 |
- |
1 |
7-140453126-T-A |
c.1809A>T |
p.Arg603Arg |
Synonymous |
15/18 |
- |
1 |
7-140453139-TG-T |
c.1796del |
p.Thr599Lysfs*2 |
Frameshift |
15/18 |
- |
1 |
7-140453136-A-ACTGTAGCTT |
c.1798_1799insAAGCTACAG |
p.Thr599_Val600insGluAlaThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453136-A-ACTGTAGATTTCT |
c.1798_1799insAGAAATCTACAG |
p.Thr599_Val600insGluLysSerThr |
InFrameInsertion |
15/18 |
- |
1 |
7-140453126-TCGAGATTTCAC-GAGAAGAGCCAA |
c.1798_1809delinsTTGGCTCTTCTC |
p.Val600_Arg603delinsLeuAlaLeuLeu |
MultiAAMissense |
15/18 |
- |
1 |