All transcript variants in gene HAPLN4

Information The variants shown are described using the NM_023002.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-19_-6del r.(=) p.(=) g.19373547_19373560del Copied from the Exome Variant Server HAPLN4_000034 10/12370 8/8176 2/4194
?/? c.3+46A>G r.(=) p.(=) g.19373493T>C Copied from the Exome Variant Server HAPLN4_000033 3/12998 0/8598 3/4400
?/? c.3+48C>G r.(=) p.(=) g.19373491G>C Copied from the Exome Variant Server HAPLN4_000032 1/12998 0/8598 1/4400
?/? c.3+57T>C r.(=) p.(=) g.19373482A>G Copied from the Exome Variant Server HAPLN4_000031 24/4566 21/3182 3/1384
?/? c.80C>A r.(?) p.(Ala27Glu) g.19372296G>T Copied from the Exome Variant Server HAPLN4_000030 9/12870 0/8510 9/4360
?/? c.95G>T r.(?) p.(Gly32Val) g.19372281C>A Copied from the Exome Variant Server HAPLN4_000029 1/12950 1/8564 0/4386
?/? c.190A>G r.(?) p.(Ile64Val) g.19371916T>C Copied from the Exome Variant Server HAPLN4_000028 3/12926 0/8552 3/4374
?/? c.268G>A r.(?) p.(Val90Met) g.19371838C>T Copied from the Exome Variant Server HAPLN4_000027 2/13004 0/8598 2/4406
?/? c.273C>T r.(=) p.(=) g.19371833G>A Copied from the Exome Variant Server HAPLN4_000026 1/13004 1/8598 0/4406
?/? c.293T>G r.(?) p.(Val98Gly) g.19371813A>C Copied from the Exome Variant Server HAPLN4_000025 1/13004 1/8598 0/4406
?/? c.321G>T r.(=) p.(=) g.19371785C>A Copied from the Exome Variant Server HAPLN4_000024 1/13004 1/8598 0/4406
?/? c.396C>T r.(=) p.(=) g.19371710G>A Copied from the Exome Variant Server HAPLN4_000023 1/13006 0/8600 1/4406
?/? c.397G>A r.(?) p.(Val133Ile) g.19371709C>T Copied from the Exome Variant Server HAPLN4_000022 7/13006 0/8600 7/4406
?/? c.418C>T r.(?) p.(Arg140Cys) g.19371688G>A Copied from the Exome Variant Server HAPLN4_000021 2/13006 0/8600 2/4406
?/? c.484+51C>T r.(=) p.(=) g.19371571G>A Copied from the Exome Variant Server HAPLN4_000020 1/13004 1/8598 0/4406
?/? c.485-6del r.(=) p.(=) g.19369670del Copied from the Exome Variant Server HAPLN4_000019 22/10988 13/7260 9/3728
?/? c.537G>A r.(=) p.(=) g.19369612C>T Copied from the Exome Variant Server HAPLN4_000018 1/12802 1/8462 0/4340
?/? c.558C>G r.(=) p.(=) g.19369591G>C Copied from the Exome Variant Server HAPLN4_000017 8/12908 7/8536 1/4372
?/? c.631G>C r.(?) p.(Ala211Pro) g.19369518C>G Copied from the Exome Variant Server HAPLN4_000016 1/12872 1/8496 0/4376
?/? c.648C>T r.(=) p.(=) g.19369501G>A Copied from the Exome Variant Server HAPLN4_000015 1/12862 0/8490 1/4372
?/? c.660A>G r.(=) p.(=) g.19369489T>C Copied from the Exome Variant Server HAPLN4_000014 105/12890 1/8508 104/4382
?/? c.681G>A r.(=) p.(=) g.19369468C>T Copied from the Exome Variant Server HAPLN4_000013 2/12942 1/8552 1/4390
?/? c.690C>T r.(=) p.(=) g.19369459G>A Copied from the Exome Variant Server HAPLN4_000012 1/12962 0/8568 1/4394
?/? c.709G>A r.(?) p.(Gly237Arg) g.19369440C>T Copied from the Exome Variant Server HAPLN4_000011 1/13002 0/8596 1/4406
?/? c.714T>C r.(=) p.(=) g.19369435A>G Copied from the Exome Variant Server HAPLN4_000010 3822/13002 1941/8596 1881/4406
?/? c.748C>A r.(?) p.(Arg250Ser) g.19369401G>T Copied from the Exome Variant Server HAPLN4_000009 2/13004 2/8598 0/4406
?/? c.764G>A r.(?) p.(Arg255His) g.19369385C>T Copied from the Exome Variant Server HAPLN4_000008 1/13006 1/8600 0/4406
?/? c.789C>T r.(=) p.(=) g.19369360G>A Copied from the Exome Variant Server HAPLN4_000007 10/13006 1/8600 9/4406
?/? c.817+11C>T r.(=) p.(=) g.19369321G>A Copied from the Exome Variant Server HAPLN4_000006 2/13006 1/8600 1/4406
?/? c.845G>A r.(?) p.(Arg282Gln) g.19368990C>T Copied from the Exome Variant Server HAPLN4_000005 3/11178 3/7360 0/3818
?/? c.881C>T r.(?) p.(Ala294Val) g.19368954G>A Copied from the Exome Variant Server HAPLN4_000004 1/11434 1/7552 0/3882
?/? c.884C>A r.(?) p.(Ala295Glu) g.19368951G>T Copied from the Exome Variant Server HAPLN4_000003 3/11418 2/7544 1/3874
?/? c.1074C>T r.(=) p.(=) g.19368761G>A Copied from the Exome Variant Server HAPLN4_000002 84/11268 0/7602 84/3666
?/? c.1156_1158del r.(?) p.(Gly386del) g.19368677_19368679del Copied from the Exome Variant Server HAPLN4_000001 56/4944 38/3562 18/1382
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