| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.202596673C>A | CA2649903105 | SYT2 | c.*84G>T (n.*84G>T) | gnomAD v4 |
| 1 | g.202596673C= | CA1144610686 | SYT2 | c.*84G= (n.*84G=) | |
| 1 | g.202596673C>T | CA35574734 | SYT2 | c.*84G>A (n.*84G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596674C>A | CA2649903107 | SYT2 | c.*83G>T (n.*83G>T) | gnomAD v4 |
| 1 | g.202596674C= | CA2481403075 | SYT2 | c.*83G= (n.*83G=) | |
| 1 | g.202596674C>T | CA730216170 | SYT2 | c.*83G>A (n.*83G>A) | dbSNP gnomAD v4 |
| 1 | g.202596676C= | CA2481403076 | SYT2 | c.*81G= (n.*81G=) | |
| 1 | g.202596676C>G | CA35574736 | SYT2 | c.*81G>C (n.*81G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596677T>C | CA35574737 | SYT2 | c.*80A>G (n.*80A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596677T= | CA1140853426 | SYT2 | c.*80A= (n.*80A=) | |
| 1 | g.202596678A>C | CA2649903109 | SYT2 | c.*79T>G (n.*79T>G) | gnomAD v4 |
| 1 | g.202596678A>G | CA2649903110 | SYT2 | c.*79T>C (n.*79T>C) | gnomAD v4 |
| 1 | g.202596679A= | CA2481403077 | SYT2 | c.*78T= (n.*78T=) | |
| 1 | g.202596679A>T | CA35574752 | SYT2 | c.*78T>A (n.*78T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596680G>A | CA35574754 | SYT2 | c.*77C>T (n.*77C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596680G= | CA2481403078 | SYT2 | c.*77C= (n.*77C=) | |
| 1 | g.202596680G>T | CA2649903114 | SYT2 | c.*77C>A (n.*77C>A) | gnomAD v4 |
| 1 | g.202596681G>A | CA1011275178 | SYT2 | c.*76C>T (n.*76C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596681G>C | CA2649903116 | SYT2 | c.*76C>G (n.*76C>G) | gnomAD v4 |
| 1 | g.202596681G= | CA2481403079 | SYT2 | c.*76C= (n.*76C=) | |
| 1 | g.202596681G>T | CA2573981105 | SYT2 | c.*76C>A (n.*76C>A) | gnomAD v4 |
| 1 | g.202596682T>C | CA35574755 | SYT2 | c.*75A>G (n.*75A>G) | dbSNP gnomAD v4 |
| 1 | g.202596682T>G | CA2649903117 | SYT2 | c.*75A>C (n.*75A>C) | gnomAD v4 |
| 1 | g.202596682T= | CA2481403080 | SYT2 | c.*75A= (n.*75A=) | |
| 1 | g.202596682_202596683insC | CA646363522 | SYT2 | c.*74_*75insG (n.*74_*75insG) | COSMIC |
| 1 | g.202596684G>A | CA2649903119 | SYT2 | c.*73C>T (n.*73C>T) | gnomAD v4 |
| 1 | g.202596684G>T | CA2649903121 | SYT2 | c.*73C>A (n.*73C>A) | gnomAD v4 |
| 1 | g.202596685C>A | CA2649903123 | SYT2 | c.*72G>T (n.*72G>T) | gnomAD v4 |
| 1 | g.202596686A>G | CA2573981108 | SYT2 | c.*71T>C (n.*71T>C) | |
| 1 | g.202596690C>A | CA2649903127 | SYT2 | c.*67G>T (n.*67G>T) | gnomAD v4 |
| 1 | g.202596690C= | CA2481403081 | SYT2 | c.*67G= (n.*67G=) | |
| 1 | g.202596690C>G | CA2649903128 | SYT2 | c.*67G>C (n.*67G>C) | gnomAD v4 |
| 1 | g.202596690C>T | CA35574758 | SYT2 | c.*67G>A (n.*67G>A) | dbSNP gnomAD v4 |
| 1 | g.202596691T>G | CA2573981230 | SYT2 | c.*66A>C (n.*66A>C) | gnomAD v4 |
| 1 | g.202596692G>T | CA2649903133 | SYT2 | c.*65C>A (n.*65C>A) | gnomAD v4 |
| 1 | g.202596694G>A | CA2649903137 | SYT2 | c.*63C>T (n.*63C>T) | gnomAD v4 |
| 1 | g.202596694G>C | CA2573981358 | SYT2 | c.*63C>G (n.*63C>G) | gnomAD v4 |
| 1 | g.202596694G>T | CA2573981382 | SYT2 | c.*63C>A (n.*63C>A) | gnomAD v4 |
| 1 | g.202596695G>A | CA1011275192 | SYT2 | c.*62C>T (n.*62C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596695G= | CA2481403082 | SYT2 | c.*62C= (n.*62C=) | |
| 1 | g.202596697A= | CA2481403083 | SYT2 | c.*60T= (n.*60T=) | |
| 1 | g.202596697A>G | CA2481403084 | SYT2 | c.*60T>C (n.*60T>C) | dbSNP |
| 1 | g.202596699T>C | CA2747381817 | SYT2 | c.*58A>G (n.*58A>G) | |
| 1 | g.202596699T>G | CA35574765 | SYT2 | c.*58A>C (n.*58A>C) | dbSNP gnomAD v4 |
| 1 | g.202596699T= | CA2481403085 | SYT2 | c.*58A= (n.*58A=) | |
| 1 | g.202596700G>A | CA2649903141 | SYT2 | c.*57C>T (n.*57C>T) | gnomAD v4 |
| 1 | g.202596700_202596701delinsGA | CA2481403086 | SYT2 | c.*56_*57delinsTC (n.*56_*57delinsTC) | |
| 1 | g.202596701del | CA528129010 | SYT2 | c.*56del (n.*56del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596701A= | CA2481403087 | SYT2 | c.*56T= (n.*56T=) | |
| 1 | g.202596701A>C | CA730216177 | SYT2 | c.*56T>G (n.*56T>G) | dbSNP |
| 1 | g.202596701A>G | CA2481403088 | SYT2 | c.*56T>C (n.*56T>C) | dbSNP gnomAD v4 |
| 1 | g.202596701A>T | CA2481403089 | SYT2 | c.*56T>A (n.*56T>A) | dbSNP |
| 1 | g.202596702T>C | CA528129012 | SYT2 | c.*55A>G (n.*55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596702T= | CA2481403090 | SYT2 | c.*55A= (n.*55A=) | |
| 1 | g.202596703A>G | CA2649903163 | SYT2 | c.*54T>C (n.*54T>C) | gnomAD v4 |
| 1 | g.202596704G>A | CA2573981385 | SYT2 | c.*53C>T (n.*53C>T) | |
| 1 | g.202596704G>T | CA2649903164 | SYT2 | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 1 | g.202596705C= | CA2481403091 | SYT2 | c.*52G= (n.*52G=) | |
| 1 | g.202596705C>T | CA730216182 | SYT2 | c.*52G>A (n.*52G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596706T>C | CA2573981398 | SYT2 | c.*51A>G (n.*51A>G) | |
| 1 | g.202596709G>A | CA1333569 | SYT2 | c.*48C>T (n.*48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596709G= | CA2481403092 | SYT2 | c.*48C= (n.*48C=) | |
| 1 | g.202596710G>C | CA2649903166 | SYT2 | c.*47C>G (n.*47C>G) | gnomAD v4 |
| 1 | g.202596710G>T | CA2649903167 | SYT2 | c.*47C>A (n.*47C>A) | gnomAD v4 |
| 1 | g.202596711A>T | CA2649903168 | SYT2 | c.*46T>A (n.*46T>A) | gnomAD v4 |
| 1 | g.202596716G>T | CA2649903169 | SYT2 | c.*41C>A (n.*41C>A) | gnomAD v4 |
| 1 | g.202596717T>C | CA2481403094 | SYT2 | c.*40A>G (n.*40A>G) | dbSNP gnomAD v4 |
| 1 | g.202596717T= | CA2481403093 | SYT2 | c.*40A= (n.*40A=) | |
| 1 | g.202596719A>G | CA2649903172 | SYT2 | c.*38T>C (n.*38T>C) | gnomAD v4 |
| 1 | g.202596720G>A | CA1333570 | SYT2 | c.*37C>T (n.*37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596720G= | CA1148263583 | SYT2 | c.*37C= (n.*37C=) | |
| 1 | g.202596720G>T | CA2649903176 | SYT2 | c.*37C>A (n.*37C>A) | gnomAD v4 |
| 1 | g.202596721T>C | CA2573981432 | SYT2 | c.*36A>G (n.*36A>G) | |
| 1 | g.202596722G>T | CA2649903177 | SYT2 | c.*35C>A (n.*35C>A) | gnomAD v4 |
| 1 | g.202596725C>A | CA2649903179 | SYT2 | c.*32G>T (n.*32G>T) | gnomAD v4 |
| 1 | g.202596725C= | CA2481403095 | SYT2 | c.*32G= (n.*32G=) | |
| 1 | g.202596725C>T | CA1333571 | SYT2 | c.*32G>A (n.*32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596726G>A | CA1333572 | SYT2 | c.*31C>T (n.*31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596726G= | CA1143655002 | SYT2 | c.*31C= (n.*31C=) | |
| 1 | g.202596726G>T | CA1333573 | SYT2 | c.*31C>A (n.*31C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596728G>T | CA2649903183 | SYT2 | c.*29C>A (n.*29C>A) | gnomAD v4 |
| 1 | g.202596731_202596737delinsAGGTGTG | CA2481403096 | SYT2 | c.*20_*26delinsCACACCT (n.*20_*26delinsCACACCT) | |
| 1 | g.202596732G>T | CA2649903187 | SYT2 | c.*25C>A (n.*25C>A) | gnomAD v4 |
| 1 | g.202596732_202596739delinsGGTGTGGG | CA1149039598 | SYT2 | c.*18_*25delinsCCCACACC (n.*18_*25delinsCCCACACC) | |
| 1 | g.202596734_202596739del | CA1333574 | SYT2 | c.*20_*25del (n.*20_*25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596733G>A | CA35574855 | SYT2 | c.*24C>T (n.*24C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596733G>C | CA2649903193 | SYT2 | c.*24C>G (n.*24C>G) | gnomAD v4 |
| 1 | g.202596733G= | CA2481403097 | SYT2 | c.*24C= (n.*24C=) | |
| 1 | g.202596734T>C | CA2649903198 | SYT2 | c.*23A>G (n.*23A>G) | gnomAD v4 |
| 1 | g.202596734T>G | CA2649903199 | SYT2 | c.*23A>C (n.*23A>C) | gnomAD v4 |
| 1 | g.202596735G>T | CA2649903201 | SYT2 | c.*22C>A (n.*22C>A) | gnomAD v4 |
| 1 | g.202596737G>T | CA2747381818 | SYT2 | c.*20C>A (n.*20C>A) | |
| 1 | g.202596738G>A | CA1333575 | SYT2 | c.*19C>T (n.*19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596738G>C | CA2649903204 | SYT2 | c.*19C>G (n.*19C>G) | gnomAD v4 |
| 1 | g.202596738G= | CA1147173508 | SYT2 | c.*19C= (n.*19C=) | |
| 1 | g.202596739G>C | CA2649903205 | SYT2 | c.*18C>G (n.*18C>G) | gnomAD v4 |
| 1 | g.202596740G>A | CA1333576 | SYT2 | c.*17C>T (n.*17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596740G= | CA1143445722 | SYT2 | c.*17C= (n.*17C=) | |
| 1 | g.202596740G>T | CA2573981456 | SYT2 | c.*17C>A (n.*17C>A) | gnomAD v4 |
| 1 | g.202596742C>G | CA2698124614 | SYT2 | c.*15G>C (n.*15G>C) | dbSNP |
| 1 | g.202596742C>T | CA2649903208 | SYT2 | c.*15G>A (n.*15G>A) | gnomAD v4 |
| 1 | g.202596744C= | CA2481403098 | SYT2 | c.*13G= (n.*13G=) | |
| 1 | g.202596744C>T | CA35574907 | SYT2 | c.*13G>A (n.*13G>A) | dbSNP |
| 1 | g.202596745A= | CA1143469210 | SYT2 | c.*12T= (n.*12T=) | |
| 1 | g.202596745A>G | CA1333577 | SYT2 | c.*12T>C (n.*12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596746G>A | CA2649903209 | SYT2 | c.*11C>T (n.*11C>T) | gnomAD v4 |
| 1 | g.202596747C= | CA2481403099 | SYT2 | c.*10G= (n.*10G=) | |
| 1 | g.202596747C>G | CA1333578 | SYT2 | c.*10G>C (n.*10G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596748C>A | CA2573981461 | SYT2 | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 1 | g.202596748C= | CA1142828030 | SYT2 | c.*9G= (n.*9G=) | |
| 1 | g.202596748C>T | CA1333579 | SYT2 | c.*9G>A (n.*9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.202596749G>A | CA1333580 | SYT2 | c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596749G= | CA1144152090 | SYT2 | c.*8C= (n.*8C=) | |
| 1 | g.202596749G>T | CA1333581 | SYT2 | c.*8C>A (n.*8C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596751T>G | CA2573981495 | SYT2 | c.*6A>C (n.*6A>C) | |
| 1 | g.202596752G>A | CA1011275216 | SYT2 | c.*5C>T (n.*5C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596752G= | CA2481403100 | SYT2 | c.*5C= (n.*5C=) | |
| 1 | g.202596752G>T | CA1011275219 | SYT2 | c.*5C>A (n.*5C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596754T>C | CA35574967 | SYT2 | c.*3A>G (n.*3A>G) | dbSNP gnomAD v4 |
| 1 | g.202596754T= | CA2481403101 | SYT2 | c.*3A= (n.*3A=) | |
| 1 | g.202596755G>A | CA2481403103 | SYT2 | c.*2C>T (n.*2C>T) | dbSNP gnomAD v4 |
| 1 | g.202596755G= | CA2481403102 | SYT2 | c.*2C= (n.*2C=) | |
| 1 | g.202596757C>A | CA344255555 | SYT2 | c.1260G>T (p.Ter420Tyr) c.1269G>T (p.Ter423Tyr) c.1440G>T (p.Ter480Tyr) c.1431G>T (p.Ter477Tyr) | |
| 1 | g.202596757C>G | CA344255556 | SYT2 | c.1260G>C (p.Ter420Tyr) c.1269G>C (p.Ter423Tyr) c.1440G>C (p.Ter480Tyr) c.1431G>C (p.Ter477Tyr) | |
| 1 | g.202596757C>T | CA422578063 | SYT2 | c.1260G>A (p.Ter420=) c.1269G>A (p.Ter423=) c.1440G>A (p.Ter480=) c.1431G>A (p.Ter477=) | |
| 1 | g.202596758T>A | CA344255557 | SYT2 | c.1259A>T (p.Ter420Leu) c.1268A>T (p.Ter423Leu) c.1439A>T (p.Ter480Leu) c.1430A>T (p.Ter477Leu) | |
| 1 | g.202596758T>C | CA344255559 | SYT2 | c.1259A>G (p.Ter420Trp) c.1268A>G (p.Ter423Trp) c.1439A>G (p.Ter480Trp) c.1430A>G (p.Ter477Trp) | |
| 1 | g.202596758T>G | CA344255561 | SYT2 | c.1259A>C (p.Ter420Ser) c.1268A>C (p.Ter423Ser) c.1439A>C (p.Ter480Ser) c.1430A>C (p.Ter477Ser) | |
| 1 | g.202596759A= | CA2481403104 | SYT2 | c.1258T= (p.Ter420=) c.1267T= (p.Ter423=) c.1438T= (p.Ter480=) c.1429T= (p.Ter477=) | |
| 1 | g.202596759A>C | CA344255566 | SYT2 | c.1258T>G (p.Ter420Glu) c.1267T>G (p.Ter423Glu) c.1438T>G (p.Ter480Glu) c.1429T>G (p.Ter477Glu) | dbSNP gnomAD v4 |
| 1 | g.202596759A>G | CA344255565 | SYT2 | c.1258T>C (p.Ter420Gln) c.1267T>C (p.Ter423Gln) c.1438T>C (p.Ter480Gln) c.1429T>C (p.Ter477Gln) | gnomAD v4 |
| 1 | g.202596759A>T | CA344255563 | SYT2 | c.1258T>A (p.Ter420Lys) c.1267T>A (p.Ter423Lys) c.1438T>A (p.Ter480Lys) c.1429T>A (p.Ter477Lys) | gnomAD v4 |
| 1 | g.202596760C>A | CA344255568 | SYT2 | c.1257G>T (p.Lys419Asn) c.1266G>T (p.Lys422Asn) c.1437G>T (p.Lys479Asn) c.1428G>T (p.Lys476Asn) | |
| 1 | g.202596760C= | CA2481403105 | SYT2 | c.1257G= (p.Lys419=) c.1266G= (p.Lys422=) c.1437G= (p.Lys479=) c.1428G= (p.Lys476=) | |
| 1 | g.202596760C>G | CA344255570 | SYT2 | c.1257G>C (p.Lys419Asn) c.1266G>C (p.Lys422Asn) c.1437G>C (p.Lys479Asn) c.1428G>C (p.Lys476Asn) | |
| 1 | g.202596760C>T | CA422578064 | SYT2 | c.1257G>A (p.Lys419=) c.1266G>A (p.Lys422=) c.1437G>A (p.Lys479=) c.1428G>A (p.Lys476=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596761T>A | CA344255572 | SYT2 | c.1256A>T (p.Lys419Met) c.1265A>T (p.Lys422Met) c.1436A>T (p.Lys479Met) c.1427A>T (p.Lys476Met) | |
| 1 | g.202596761T>C | CA344255574 | SYT2 | c.1256A>G (p.Lys419Arg) c.1265A>G (p.Lys422Arg) c.1436A>G (p.Lys479Arg) c.1427A>G (p.Lys476Arg) | |
| 1 | g.202596761T>G | CA344255576 | SYT2 | c.1256A>C (p.Lys419Thr) c.1265A>C (p.Lys422Thr) c.1436A>C (p.Lys479Thr) c.1427A>C (p.Lys476Thr) | |
| 1 | g.202596762T>A | CA344255577 | SYT2 | c.1255A>T (p.Lys419Ter) c.1264A>T (p.Lys422Ter) c.1435A>T (p.Lys479Ter) c.1426A>T (p.Lys476Ter) | |
| 1 | g.202596762T>C | CA344255579 | SYT2 | c.1255A>G (p.Lys419Glu) c.1264A>G (p.Lys422Glu) c.1435A>G (p.Lys479Glu) c.1426A>G (p.Lys476Glu) | |
| 1 | g.202596762T>G | CA344255581 | SYT2 | c.1255A>C (p.Lys419Gln) c.1264A>C (p.Lys422Gln) c.1435A>C (p.Lys479Gln) c.1426A>C (p.Lys476Gln) | |
| 1 | g.202596763G>A | CA1333582 | SYT2 | c.1254C>T (p.Asn418=) c.1263C>T (p.Asn421=) c.1434C>T (p.Asn478=) c.1425C>T (p.Asn475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596763G>C | CA1333583 | SYT2 | c.1254C>G (p.Asn418Lys) c.1263C>G (p.Asn421Lys) c.1434C>G (p.Asn478Lys) c.1425C>G (p.Asn475Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596763G= | CA1143398260 | SYT2 | c.1254C= (p.Asn418=) c.1263C= (p.Asn421=) c.1434C= (p.Asn478=) c.1425C= (p.Asn475=) | |
| 1 | g.202596763G>T | CA344255584 | SYT2 | c.1254C>A (p.Asn418Lys) c.1263C>A (p.Asn421Lys) c.1434C>A (p.Asn478Lys) c.1425C>A (p.Asn475Lys) | |
| 1 | g.202596764T>A | CA344255585 | SYT2 | c.1253A>T (p.Asn418Ile) c.1262A>T (p.Asn421Ile) c.1433A>T (p.Asn478Ile) c.1424A>T (p.Asn475Ile) | |
| 1 | g.202596764T>C | CA344255587 | SYT2 | c.1253A>G (p.Asn418Ser) c.1262A>G (p.Asn421Ser) c.1433A>G (p.Asn478Ser) c.1424A>G (p.Asn475Ser) | |
| 1 | g.202596764T>G | CA344255588 | SYT2 | c.1253A>C (p.Asn418Thr) c.1262A>C (p.Asn421Thr) c.1433A>C (p.Asn478Thr) c.1424A>C (p.Asn475Thr) | |
| 1 | g.202596765T>A | CA344255593 | SYT2 | c.1252A>T (p.Asn418Tyr) c.1261A>T (p.Asn421Tyr) c.1432A>T (p.Asn478Tyr) c.1423A>T (p.Asn475Tyr) | |
| 1 | g.202596765T>C | CA344255594 | SYT2 | c.1252A>G (p.Asn418Asp) c.1261A>G (p.Asn421Asp) c.1432A>G (p.Asn478Asp) c.1423A>G (p.Asn475Asp) | |
| 1 | g.202596765T>G | CA344255591 | SYT2 | c.1252A>C (p.Asn418His) c.1261A>C (p.Asn421His) c.1432A>C (p.Asn478His) c.1423A>C (p.Asn475His) | |
| 1 | g.202596766C>A | CA344255596 | SYT2 | c.1251G>T (p.Lys417Asn) c.1260G>T (p.Lys420Asn) c.1431G>T (p.Lys477Asn) c.1422G>T (p.Lys474Asn) | |
| 1 | g.202596766C= | CA2481403106 | SYT2 | c.1251G= (p.Lys417=) c.1260G= (p.Lys420=) c.1431G= (p.Lys477=) c.1422G= (p.Lys474=) | |
| 1 | g.202596766C>G | CA344255598 | SYT2 | c.1251G>C (p.Lys417Asn) c.1260G>C (p.Lys420Asn) c.1431G>C (p.Lys477Asn) c.1422G>C (p.Lys474Asn) | COSMIC |
| 1 | g.202596766C>T | CA422578067 | SYT2 | c.1251G>A (p.Lys417=) c.1260G>A (p.Lys420=) c.1431G>A (p.Lys477=) c.1422G>A (p.Lys474=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596767T>A | CA344255599 | SYT2 | c.1250A>T (p.Lys417Met) c.1259A>T (p.Lys420Met) c.1430A>T (p.Lys477Met) c.1421A>T (p.Lys474Met) | |
| 1 | g.202596767T>C | CA344255601 | SYT2 | c.1250A>G (p.Lys417Arg) c.1259A>G (p.Lys420Arg) c.1430A>G (p.Lys477Arg) c.1421A>G (p.Lys474Arg) | |
| 1 | g.202596767T>G | CA344255603 | SYT2 | c.1250A>C (p.Lys417Thr) c.1259A>C (p.Lys420Thr) c.1430A>C (p.Lys477Thr) c.1421A>C (p.Lys474Thr) | |
| 1 | g.202596768T>A | CA344255605 | SYT2 | c.1249A>T (p.Lys417Ter) c.1258A>T (p.Lys420Ter) c.1429A>T (p.Lys477Ter) c.1420A>T (p.Lys474Ter) | |
| 1 | g.202596768T>C | CA344255607 | SYT2 | c.1249A>G (p.Lys417Glu) c.1258A>G (p.Lys420Glu) c.1429A>G (p.Lys477Glu) c.1420A>G (p.Lys474Glu) | |
| 1 | g.202596768T>G | CA344255609 | SYT2 | c.1249A>C (p.Lys417Gln) c.1258A>C (p.Lys420Gln) c.1429A>C (p.Lys477Gln) c.1420A>C (p.Lys474Gln) | |
| 1 | g.202596769G>A | CA422578068 | SYT2 | c.1248C>T (p.Gly416=) c.1257C>T (p.Gly419=) c.1428C>T (p.Gly476=) c.1419C>T (p.Gly473=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.202596769G>C | CA422578069 | SYT2 | c.1248C>G (p.Gly416=) c.1257C>G (p.Gly419=) c.1428C>G (p.Gly476=) c.1419C>G (p.Gly473=) | gnomAD v4 |
| 1 | g.202596769G= | CA2481403107 | SYT2 | c.1248C= (p.Gly416=) c.1257C= (p.Gly419=) c.1428C= (p.Gly476=) c.1419C= (p.Gly473=) | |
| 1 | g.202596769G>T | CA422578070 | SYT2 | c.1248C>A (p.Gly416=) c.1257C>A (p.Gly419=) c.1428C>A (p.Gly476=) c.1419C>A (p.Gly473=) | |
| 1 | g.202596770C>A | CA344255610 | SYT2 | c.1247G>T (p.Gly416Val) c.1256G>T (p.Gly419Val) c.1427G>T (p.Gly476Val) c.1418G>T (p.Gly473Val) | |
| 1 | g.202596770C>G | CA344255612 | SYT2 | c.1247G>C (p.Gly416Ala) c.1256G>C (p.Gly419Ala) c.1427G>C (p.Gly476Ala) c.1418G>C (p.Gly473Ala) | gnomAD v4 |
| 1 | g.202596770C>T | CA344255614 | SYT2 | c.1247G>A (p.Gly416Asp) c.1256G>A (p.Gly419Asp) c.1427G>A (p.Gly476Asp) c.1418G>A (p.Gly473Asp) | |
| 1 | g.202596771C>A | CA344255619 | SYT2 | c.1246G>T (p.Gly416Cys) c.1255G>T (p.Gly419Cys) c.1426G>T (p.Gly476Cys) c.1417G>T (p.Gly473Cys) | |
| 1 | g.202596771C>G | CA344255617 | SYT2 | c.1246G>C (p.Gly416Arg) c.1255G>C (p.Gly419Arg) c.1426G>C (p.Gly476Arg) c.1417G>C (p.Gly473Arg) | |
| 1 | g.202596771C>T | CA344255616 | SYT2 | c.1246G>A (p.Gly416Ser) c.1255G>A (p.Gly419Ser) c.1426G>A (p.Gly476Ser) c.1417G>A (p.Gly473Ser) |